Publications on Pubmed

2025

Bergès C, Laffargue F, Dauphin C, Postma AV, Thambo JB, Rooryck C. A novel heterozygous pathogenic variant in HEY2 led to a familial form of non-syndromic Tetralogy of Fallot. Eur J Hum Genet. 2025 Aug;33(8):1072-1075. DOI: 10.1038/s41431-025-01880-3. Epub 2025 Jun 6.

Maino A, Manches O, Rodriguez L, Ivanovic Z, Gisler R, Saas P, Chaperot L. SEC Injectable Solution Preserves Activated T Cells in Hypothermic Condition. Stem Cell Rev Rep. 2025 Aug;21(6):1851-1854. DOI: 10.1007/s12015-025-10904-w . Epub 2025 Jun 13.

Lejoyeux R, Michaud V, Le Boité H, Plaisant C, Helot I, Philippe E, Lasseaux E, Vasseur V, Fessard K, Picard H, Le Cossec C, Bruneau S, Le Mer Y, Arveiler B, Couturier A, Bonnin S. Genetic analysis of participants with foveal hypoplasia. Ophthalmic Genet. 2025 Jun 23:1-4. · DOI: 10.1080/13816810.2025.2520411 . Epub ahead of print.

Bizot E, Jouni D, Rooryck C, Taylor J, Legendre M, Charbonnier L, Metreau J, Benaloun E, Pinson A, Quenum G, Bouligand J, Tachdjian G, Labrune P, Tosca L. Six New Cases of 22q13.2 Gain Including TFC20: First Report of Triplication and Smallest Duplication Associated With Neurodevelopmental Delays. Clin Genet. 2025 Jun 30. DOI: 10.1111/cge.14781 . Epub ahead of print.

Laurie S, Steyaert W, de Boer E, Polavarapu K, Schuermans N, Sommer AK, Demidov G, Ellwanger K, Paramonov I, Thomas C, Aretz S, Baets J, Benetti E, Bullich G, Chinnery PF, Clayton-Smith J, Cohen E, Danis D, de Sainte Agathe JM, Denommé-Pichon AS, Diaz-Manera J, Efthymiou S, Faivre L, Fernandez-Callejo M, Freeberg M, Garcia-Pelaez J, Guillot-Noel L, Haack TB, Hanna M, Hengel H, Horvath R, Houlden H, Jackson A, Johansson L, Johari M, Kamsteeg EJ, Kellner M, Kleefstra T, Lacombe D, Lochmüller H, López-Martín E, Macaya A, Marcé-Grau A, Maver A, Morsy H, Muntoni F, Musacchia F, Nelson I, Nigro V, Olimpio C, Oliveira C, Paulasová Schwabová J, Pauly MG, Peterlin B, Peters S, Pfundt R, Piluso G, Piscia D, Posada M, Reich S, Renieri A, Ryba L, Šablauskas K, Savarese M, Schöls L, Schütz L, Steinke-Lange V, Stevanin G, Straub V, Sturm M, Swertz MA, Tartaglia M, Te Paske IBAW, Thompson R, Torella A, Trainor C, Udd B, Van de Vondel L, van de Warrenburg B, van Reeuwijk J, Vandrovcova J, Vitobello A, Vos J, Vyhnálková E, Wijngaard R, Wilke C, William D, Xu J, Yaldiz B, Zalatnai L, Zurek B; Solve-RD DITF-GENTURIS; Solve-RD DITF-ITHACA; Solve-RD DITF-EURO-NMD; Solve-RD DITF-RND; Solve-RD consortium; Brookes AJ, Evangelista T, Gilissen C, Graessner H, Hoogerbrugge N, Ossowski S, Riess O, Schüle R, Synofzik M, Verloes A, Matalonga L, Brunner HG, Lohmann K, de Voer RM, Töpf A, Vissers LELM, Beltran S, Hoischen A. Genomic reanalysis of a pan-European rare-disease resource yields new diagnoses. Nat Med. 2025 Feb;31(2):478-489. doi: 10.1038/s41591-024-03420-w. Epub 2025 Jan 17. Erratum in: Nat Med. 2025 Aug;31(8):2819-2820 DOI: 10.1038/s41591-025-03754-z

Klein P, Guillorit H, Mora Charrot L, Laborde R, Dugot-Senant N, Izotte J, Rousseau B, Grosset CF. Design of a Neonatal Orthotopic Metastatic Xenograft Model of Hepatoblastoma in Mice. Oncology. 2025 Jul 18:1-15. DOI: 10.1159/000546028 . Epub ahead of print.

Al Kassir S, Mercé T, Pedemay S, Bourcier LM, Soares M, Le Mentec H, Podechard N, Knoll-Gellida A, Babin PJ. An optimized zebrafish obesogenic test protocol with an artificial intelligence-based analysis software for screening obesogens and anti-obesogens. Biol Methods Protoc. 2025 Jul 1;10(1):bpaf052. DOI: 10.1093/biomethods/bpaf052 .

Bourcier LM, Babin PJ. A cognitive and sensory approach based on workshops using the zebrafish model promotes the discovery of life sciences in the classroom. Biol Methods Protoc. 2024 Dec 6;9(1):bpae092. DOI: 10.1093/biomethods/bpae092

Lesbats J, Brillac A, Reisz JA, Mukherjee P, Lhuissier C, Fernández-Monreal M, Dupuy JW, Sequeira A, Tioli G, De La Calle Arregui C, Pinson B, Wendisch D, Rousseau B, Efeyan A, Sander LE, D’Alessandro A, Garaude J. Macrophages recycle phagocytosed bacteria to fuel immunometabolic responses. Nature. 2025 Apr;640(8058):524-533. DOI: 10.1038/s41586-025-08629-4

Domenach L, Rooryck C, Legendre M, Bouchghoul H, Beneteau C, Margot H. Antenatal phenotype associated with PAK2 pathogenic variants: bilateral pleural effusion as a warning sign. BMC Med Genomics. 2025 Feb 24;18(1):35. DOI: 10.1186/s12920-025-02096-6

Sequeira A, Sagardoy T, Bourgeade L, Lacombe D, Sarrazin E, Toutain A, Rooryck C. Novel variants in FOXI3 gene confirm its implication in Oculo-Auriculo-Vertebral spectrum. Eur J Hum Genet. 2025 May;33(5):683-687. DOI: 10.1038/s41431-025-01837-6

Degoutin M, Angelini C, Bar C, El Khedoud WA, Barnerias C, Boulariah-Hadjou R, Estiar MA, Ewenczyk C, Gan-Or Z, Lacombe D, Lefeuvre C, Majethia P, Messaoud-Khelifi M, Narayanan DL, Rouleau GA, Suchowersky O, Shukla A, Guillaud-Bataille M, Stevanin G, Goizet C. From spastic paraplegia to infantile neurodegenerative disorder: Expanding the phenotypic spectrum associated with biallelic SPAST variants. Eur J Neurol. 2025 Jan;32(1):e70025. DOI: 10.1111/ene.70025

2024

Courdier C, Dhaenens CM, Grunewald O, Guerrot AM, Audo I, Lecleire-Collet A, Amstutz-Montadert I, Gad S, Lapeyre G, Zanlonghi X, Bonneau D, Fradin M, Le Meur G, Marlin S, Blanc P, Roux AF, Meunier I, Michaud V. The phenotypic spectrum of CEP250 gene variants. Ophthalmic Genet. 2024 Nov 28:1-8. DOI: 10.1080/13816810.2024.2434045

Dousset L, Mahfouf W, Younes H, Fatrouni H, Faucheux C, Muzotte E, Khalife F, Rossignol R, Moisan F, Cario M, Claverol S, Favot-Laforge L, Nieminen AI, Vainio S, Ali N, Rezvani HR. Energy metabolism rewiring following acute UVB irradiation is largely dependent on nuclear DNA damage. Free Radic Biol Med. 2024 Dec 10;227:459-471. DOI: 10.1016/j.freeradbiomed.2024.12.030

Chevaleyre J, Rodriguez L, Attebi E, Duchez P, Ivanovic Z. An Injectable Solution for Preservation of Hematopoietic Stem and Progenitors Cells in Hypothermic Condition. Stem Cell Rev Rep. 2024 Dec 12. DOI: 10.1007/s12015-024-10829-w

Demidov G, Yaldiz B, Garcia-Pelaez J, de Boer E, Schuermans N, Van de Vondel L, Paramonov I, Johansson LF, Musacchia F, Benetti E, Bullich G, Sablauskas K, Beltran S, Gilissen C, Hoischen A, Ossowski S, de Voer R, Lohmann K, Oliveira C, Topf A, Vissers LELM; Solve-RD Consortium; Laurie S. Comprehensive reanalysis for CNVs in ES data from unsolved rare disease cases results in new diagnoses. NPJ Genom Med. 2024 Oct 26;9(1):49. DOI: 10.1038/s41525-024-00436-6

Sauvestre C, Boileau MJ, Caule C, Griffiths D, Schrub F, Chassaing N, Rooryck C. Radiculomegaly as a key clinical feature in oculo-facio-cardio-dental (OFCD) syndrome: a case report with a novel truncating variant in BCOR gene. Cardiol Young. 2024 Oct 11:1-4. DOI: 10.1017/S104795112402660X

Angelini C, Bar C, Baudier MP, Fergelot P, Lancelot G, Rooryck C, Germain DP, Jabbour F, Blanchet AS, Cauchie A, Sarrazin E, Bellance R, Lefaucheur JP, Bismuth J, Ranque-Garnier S, Corand V, Coupry I, Goizet C; DOUFABIS Consortium. Prevalence of Fabry disease in patients with chronic pain: Lessons from the DOUFAB and DOUFABIS studies. Eur J Pain. 2024 Aug 4. DOI: 10.1002/ejp.4708

Bianchi C, Margot H, Fernandes H, Pasquet M, Priqueler L, Roy-Peaud F, Bauduer F, Bayart S, Garnier N, Fain O, Van Gils J, Joly SB, Rialland F, Paillard C, Deparis M, Lambilliotte A, Leblanc T, Fahd M, Leverger G, Héritier S, Geneviève D, Rieux-Laucat F, Picard C, Neyraud C, Aladjidi N. Autoimmune cytopenia and Kabuki syndrome in paediatrics: Insights in 11 patients. Br J Haematol. 2024 May;204(5):1899-1907. DOI: 10.1111/bjh.19387

Billes A, Pujalte M, Jedraszak G, Amsallem D, Boudry-Labis E, Boute O, Bouquillon S, Brischoux-Boucher E, Callier P, Coutton C, Denizet AA, Dieterich K, Kuentz P, Lespinasse J, Mazel B, Morin G, Amram F, Pennamen P, Rio M, Piard J, Putoux A, Rama M, Roze-Guillaumey V, Schluth-Bolard C, Till M, Trouvé C, Vieville G, Rooryck C, Sanlaville D, Chatron N. Possible incomplete penetrance of Xq28 int22h-1/int22h-2 duplication. Clin Genet. 2024 Sep;106(3):234-246. DOI: 10.1111/cge.14525

Guissart C, De la Cruz E, Flabeau O, Grapperon AM, Corazza G, Junilhon L, Delmas JC, Millecamps S, Polge A, Amador MDM, Salachas F, Rochat J, Goizet C, Juntas Morales R, Lumbroso S, Philibert P, Cheillan D, Mouzat K. Heterozygous SPTLC1 p.Leu39del is a major cause of slow-progressing juvenile ALS. J Neurol Neurosurg Psychiatry. 2024 Feb 14;95(3):288-290. DOI: 10.1136/jnnp-2023-331753

Ha T, Morgan A, Bartos MN, Beatty K, Cogné B, Braun D, Gerber CB, Gaspar H, Kopps AM, Rieubland C, Hurst ACE, Amor DJ, Nizon M, Pasquier L, Pfundt R, Reis A, Siu VM, Tessarech M, Thompson ML, Vincent M, de Vries BBA, Walsh MB, Wechsler SB, Zweier C, Schnur RE, Guillen Sacoto MJ, Margot H, Masotto B, Palafoll MIV, Nawaz U, Voineagu I, Slavotinek A. De novo variants predicting haploinsufficiency for DIP2C are associated with expressive speech delay. Am J Med Genet A. 2024 Jul;194(7):e63559. doi: 10.1002/ajmg.a.63559. DOI: 10.1002/ajmg.a.63559

Henni Mansour AS, Ragues M, Brevier J, Borowczyk C, Grevelinger J, Laroche-Traineau J, Garaude J, Marais S, Jacobin-Valat MJ, Gerbaud E, Clofent-Sanchez G, Ottones F. Phenotypic, Metabolic, and Functional Characterization of Experimental Models of Foamy Macrophages: Toward Therapeutic Research in Atherosclerosis. Int J Mol Sci. 2024 Sep 21;25(18):10146. DOI: 10.3390/ijms251810146

Lebreton L, Hennart B, Baklouti S, Trimouille A, Boyer JC, Becquemont L, Dhaenens CM, Picard N. Pharmacogénétique de l’ototoxicité des aminosides : état des connaissances et des pratiques – recommandations du Réseau francophone de pharmacogénétique (RNPGx) [Pharmacogenetics of aminoglycoside ototoxicity: State of knowledge and practices – Recommendations of the Francophone Network of Pharmacogenetics (RNPGx)]. Therapie. 2024 Jun 5:S0040-5957(24)00068-4. French. doi: 10.1016/j.therap.2024.05.006. Epub ahead of print. PMID: 38876950. DOI: 10.1016/j.therap.2024.05.006

Marin V, Lebreton L, Guibet C, Mesli S, Redonnet-Vernhet I, Dexant M, Lamireau D, Roche S, Gaschignard M, Delmas J, Margot H, Bar C. Case report: Unveiling genetic and phenotypic variability in Nonketotic hyperglycinemia: an atypical early onset case associated with a novel GLRX5 variant. Front Genet. 2024 Sep 11;15:1432272. DOI: 10.3389/fgene.2024.1432272

Redonnet-Vernhet I, Mercié P, Lebreton L, Blouin JM, Bronnimann D, Mesli S, Guibet C, Ribeiro E, Gensous N, Duffau P, Gouya L, Richard E. Preventing hyperhomocysteinemia using vitamin B₆ supplementation in Givosiran-treated acute intermittent porphyria: Highlights from a case report and brief literature review. Mol Genet Metab Rep. 2024 Apr 4;39:101076. DOI: 10.1016/j.ymgmr.2024.101076

Sabbagh Q, Haghshenas S, Piard J, Trouvé C, Amiel J, Attié-Bitach T, Balci T, Barat-Houari M, Belonis A, Boute O, Brightman DS, Bruel AL, Caraffi SG, Chatron N, Collet C, Dufour W, Edery P, Fong CT, Fusco C, Gatinois V, Gouy E, Guerrot AM, Heide S, Joshi A, Karp N, Keren B, Lesieur-Sebellin M, Levy J, Levy MA, Lozano C, Lyonnet S, Margot H, Marzin P, McConkey H, Michaud V, Nicolas G, Nizard M, Paulet A, Peluso F, Pernin V, Perrin L, Philippe C, Prasad C, Prasad M, Relator R, Rio M, Rondeau S, Ruault V, Ruiz-Pallares N, Sanchez E, Shears D, Siu VM, Sorlin A, Tedder M, Tharreau M, Mau-Them FT, van der Laan L, Van Gils J, Verloes A, Whalen S, Willems M, Yauy K, Zuntini R, Kerkhof J, Sadikovic B, Geneviève D. Clinico-biological refinement of BCL11B-related disorder and identification of an episignature: A series of 20 unreported individuals. Genet Med. 2024 Jan;26(1):101007. DOI: 10.1016/j.gim.2023.101007

Margot H, Jones N, Matis T, Bonneau D, Busa T, Bonnet F, Conrad S, Crivelli L, Monin P, Fert-Ferrer S, Mortemousque I, Raad S, Lacombe D, Caux F, Sevenet N, Bubien V, Longy M; French Cowden Disease Network. Classification of PTEN germline non-truncating variants: a new approach to interpretation. J Med Genet. 2024 Oct 2:jmg-2024-109982. DOI: 10.1136/jmg-2024-109982

Refeyton A, Labat V, Mombled M, Vlaski-Lafarge M, Ivanovic Z. Functional single-cell analyses of mesenchymal stromal cell proliferation and differentiation using ALDH-activity and mitochondrial ROS content. Cytotherapy. 2024 Aug;26(8):813-824. DOI: 10.1016/j.jcyt.2024.04.003

Diallo M, Courdier C, Mercier E, Sequeira A, Defay-Stinat A, Plaisant C, Mesdaghi S, Rigden D, Javerzat S, Lasseaux E, Bourgeade L, Audebert-Bellanger S, Dollfus H, Hadj-Rabia S, Morice-Picard F, Philibert M, Sidibé MK, Smirnov V, Sylla O, Michaud V, Arveiler B. Functional Characterization of Splice Variants in the Diagnosis of Albinism. Int J Mol Sci. 2024 Aug 8;25(16):8657. DOI: 10.3390/ijms25168657

Smirnov VM, Lasseaux E, Michaud V, Courdier C, Meunier I, Arveiler B, Defoort-Dhellemmes S. Crossed VEP asymmetry in a patient with AHR-linked infantile nystagmus and foveal hypoplasia. Doc Ophthalmol. 2024 Aug;149(1):47-52. DOI: 10.1007/s10633-024-09979-6

Green DJ, Michaud V, Lasseaux E, Plaisant C; UK Biobank Eye and Vision Consortium; Fitzgerald T, Birney E, Black GC, Arveiler B, Sergouniotis PI. The co-occurrence of genetic variants in the TYR and OCA2 genes confers susceptibility to albinism. Nat Commun. 2024 Sep 30;15(1):8436. DOI: 10.1038/s41467-024-52763-y

Hermida A, Ader F, Millat G, Jedraszak G, Maury P, Cador R, Catalan PA, Clerici G, Combes N, De Groote P, Dupin-Deguine D, Eschalier R, Faivre L, Garcia P, Guillon B, Janin A, Kugener B, Lackmy M, Laredo M, Le Guillou X, Lesaffre F, Lucron H, Milhem A, Nadeau G, Nguyen K, Palmyre A, Perdreau E, Picard F, Rebotier N, Richard P, Rooryck C, Seitz J, Verloes A, Vernier A, Winum P, Yabeta GA, Bouchot O, Chevalier P, Charron P, Gandjbakhch E. NEXN Gene in Cardiomyopathies and Sudden Cardiac Deaths: Prevalence, Phenotypic Expression, and Prognosis. Circ Genom Precis Med. 2024 Feb;17(1):e004285. DOI: 10.1161/CIRCGEN.123.004285

Johansson LF, Laurie S, Spalding D, Gibson S, Ruvolo D, Thomas C, Piscia D, de Andrade F, Been G, Bijlsma M, Brunner H, Cimerman S, Dizjikan FY, Ellwanger K, Fernandez M, Freeberg M, van de Geijn GJ, Kanninga R, Maddi V, Mehtarizadeh M, Neerincx P, Ossowski S, Rath A, Roelofs-Prins D, Stok-Benjamins M, van der Velde KJ, Veal C, van der Vries G, Wadsley M, Warren G, Zurek B, Keane T, Graessner H, Beltran S, Swertz MA, Brookes AJ; Solve-RD consortium. An interconnected data infrastructure to support large-scale rare disease research. Gigascience. 2024 Jan 2;13:giae058. DOI: 10.1093/gigascience/giae058

Demidov G, Laurie S, Torella A, Piluso G, Scala M, Morleo M, Nigro V, Graessner H, Banka S; Solve-RD consortium; Lohmann K, Ossowski S. Structural variant calling and clinical interpretation in 6224 unsolved rare disease exomes. Eur J Hum Genet. 2024 Aug;32(8):998-1004. DOI: 10.1038/s41431-024-01637-4

Dollfus H, Lilien MR, Maffei P, Verloes A, Muller J, Bacci GM, Cetiner M, van den Akker ELT, Grudzinska Pechhacker M, Testa F, Lacombe D, Stokman MF, Simonelli F, Gouronc A, Gavard A, van Haelst MM, Koenig J, Rossignol S, Bergmann C, Zacchia M, Leroy BP, Mosbah H, Van Eerde AM, Mekahli D, Servais A, Poitou C, Valverde D. Bardet-Biedl syndrome improved diagnosis criteria and management: Inter European Reference Networks consensus statement and recommendations. Eur J Hum Genet. 2024 Jul 31. DOI: 10.1038/s41431-024-01634-7

Mauhin W, Guffon N, Vanier MT, Froissart R, Cano A, Douillard C, Lavigne C, Héron B, Belmatoug N, Uzunhan Y, Lacombe D, Levade T, Duvivier A, Pulikottil-Jacob R, Laredo F, Pichard S, Lidove O; ASSUR Study Group. Acid sphingomyelinase deficiency in France: a retrospective survival study. Orphanet J Rare Dis. 2024 Aug 5;19(1):289. DOI: 10.1186/s13023-024-03234-6

Fauqueux J, Boussion S, Thuillier C, Meurisse E, Lacombe D, Willems M, Piton A, Ait-Yahya E, Ghoumid J, Smol T. Splice site variants in the canonical donor site of MED13L exon 7 lead to intron retention in patients with MED13L syndrome. J Med Genet. 2024 Aug 24:jmg-2024-110154. DOI: 10.1136/jmg-2024-110154

Pierpont EI, Bennett AM, Schoyer L, Stronach B, Anschutz A, Borrie SC, Briggs B, Burkitt-Wright E, Castel P, Cirstea IC, Draaisma F, Ellis M, Fear VS, Frone MN, Flex E, Gelb BD, Green T, Gripp KW, Khoshkhoo S, Kieran MW, Kleemann K, Klein-Tasman BP, Kontaridis MI, Kruszka P, Leoni C, Liu CZ, Merchant N, Magoulas PL, Moertel C, Prada CE, Rauen KA, Roelofs R, Rossignol R, Sevilla C, Sevilla G, Sheedy R, Stieglitz E, Sun D, Tiemens D, White F, Wingbermühle E, Wolf C, Zenker M, Andelfinger G. The 8th International RASopathies Symposium: Expanding research and care practice through global collaboration and advocacy. Am J Med Genet A. 2024 Apr;194(4):e63477. DOI: 10.1002/ajmg.a.63477

Lacombe D, Bloch-Zupan A, Bredrup C, Cooper EB, Houge SD, García-Miñaúr S, Kayserili H, Larizza L, Lopez Gonzalez V, Menke LA, Milani D, Saettini F, Stevens CA, Tooke L, Van der Zee JA, Van Genderen MM, Van-Gils J, Waite J, Adrien JL, Bartsch O, Bitoun P, Bouts AHM, Cueto-González AM, Dominguez-Garrido E, Duijkers FA, Fergelot P, Halstead E, Huisman SA, Meossi C, Mullins J, Nikkel SM, Oliver C, Prada E, Rei A, Riddle I, Rodriguez-Fonseca C, Rodríguez Pena R, Russell J, Saba A, Santos-Simarro F, Simpson BN, Smith DF, Stevens MF, Szakszon K, Taupiac E, Totaro N, Valenzuena Palafoll I, Van Der Kaay DCM, Van Wijk MP, Vyshka K, Wiley S, Hennekam RC. Diagnosis and management in Rubinstein-Taybi syndrome: first international consensus statement. J Med Genet. 2024 May 21;61(6):503-519. DOI: 10.1136/jmg-2023-109438

Lacombe D, Cottet C, Laugel V. Élargir le dépistage néonatal [Expand neonatal screening]. Rev Prat. 2023 Dec;73(10):1047. French. PMID: 38294462.

Haghshenas S, Bout HJ, Schijns JM, Levy MA, Kerkhof J, Bhai P, McConkey H, Jenkins ZA, Williams EM, Halliday BJ, Huisman SA, Lauffer P, de Waard V, Witteveen L, Banka S, Brady AF, Galazzi E, van Gils J, Hurst ACE, Kaiser FJ, Lacombe D, Martinez-Monseny AF, Fergelot P, Monteiro FP, Parenti I, Persani L, Santos-Simarro F, Simpson BN; MKHK Research Consortium; Alders M, Robertson SP, Sadikovic B, Menke LA. Menke-Hennekam syndrome; delineation of domain-specific subtypes with distinct clinical and DNA methylation profiles. HGG Adv. 2024 Mar 29;5(3):100287. DOI: 10.1016/j.xhgg.2024.100287

Adamo-Croux M, Auger-Gilli A, Guyader GL, Aubin-Courjault J, Margot H, Bar C, Lacombe D, Van-Gils J, Legendre M, Binet A, Horn XLG. Care pathways in childhood neurodevelopmental disorders: Toward greater awareness of KBG syndrome among pediatricians. Arch Pediatr. 2024 May 7:S0929-693X(24)00062-9. DOI: 10.1016/j.arcped.2024.02.007

Bessis D, Bursztejn AC, Morice-Picard F, Capri Y, Barbarot S, Aubert H, Bodet D, Bourrat E, Chiaverini C, Poujade L, Willems M, Rouanet J, Dompmartin-Blanchère A, Geneviève D, Gerard M, Ginglinger E, Hadj-Rabia S, Martin L, Mazereeuw-Hautier J, Bibas N, Molinari N, Herman F, Phan A, Rod J, Roger H, Sigaudy S, Ziegler A, Vial Y, Verloes A, Cavé H, Lacombe D. Dermatological manifestations in Costello syndrome: A prospective multicentric study of 31 HRAS-positive variant patients. J Eur Acad Dermatol Venereol. 2024 Apr 10. DOI: 10.1111/jdv.19996

Mauhin W, Dzangue-Tchoupou G, Amelin D, Corneau A, Lamari F, Allenbach Y, Dussol B, Leguy-Seguin V, D’Halluin P, Matignon M, Maillot F, Ly KH, Besson G, Willems M, Labombarda F, Masseau A, Lavigne C, Lacombe D, Maillard H, Lidove O, Benveniste O. Mass cytometry reveals atypical immune profile notably impaired maturation of memory CD4 T with Gb3-related CD27 expression in CD4 T cells in Fabry disease. J Inherit Metab Dis. 2024 Apr 16. DOI: 10.1002/jimd.12727

Margot H, Pizano A, Amestoy A, Lacombe D, Berges C, Beneteau C, Innes AM. Investigations of an individual with a Marfanoid habitus, mild intellectual disability, and severe social anxiety identifies PCDHGA5 as a candidate neurodevelopmental disorder gene. Am J Med Genet C Semin Med Genet. 2024 Apr 9:e32087. DOI: 10.1002/ajmg.c.32087

Diallo M, Sylla O, Sidibé MK, Plaisant C, Mercier E, Sequeira A, Javerzat S, Hadid A, Lasseaux E, Michaud V, Arveiler B. Genotypic spectrum of albinism in Mali. Pigment Cell Melanoma Res. 2024 May 9. DOI: 10.1111/pcmr.13175

Fournier H, Hasdenteufel M, Garrouteigt C, Perie M, Gliksohn A, Jouanne B, Hadj-Rabia S, Arveiler B, Morice-Picard F, Quintard B. The experience of albinism in France: a qualitative study on dyads of parents and their adult child with albinism. BMC Med. 2024 Jan 29;22(1):40. DOI: 10.1186/s12916-024-03251-z

Cuinat S, Quélin C, Effray C, Dubourg C, Le Bouar G, Cabaret-Dufour AS, Loget P, Proisy M, Sauvestre F, Sarreau M, Martin-Berenguer S, Beneteau C, Naudion S, Michaud V, Arveiler B, Trimouille A, Macé P, Sigaudy S, Glazunova O, Torrents J, Raymond L, Saint-Frison MH, Attié-Bitach T, Lefebvre M, Capri Y, Bourgon N, Thauvin-Robinet C, Tran Mau-Them F, Bruel AL, Vitobello A, Denommé-Pichon AS, Faivre L, Brehin AC, Goldenberg A, Patrier-Sallebert S, Perani A, Dauriat B, Bourthoumieu S, Yardin C, Marquet V, Barnique M, Fiorenza-Gasq M, Marey I, Tournadre D, Doumit R, Nugues F, Barakat TS, Bustos F, Jaillard S, Launay E, Pasquier L, Odent S. Extending the clinical spectrum of X-linked Tonne-Kalscheuer syndrome (TOKAS): new insights from the fetal perspective. J Med Genet. 2024 Jun 7:jmg-2024-109854. DOI: 10.1136/jmg-2024-109854

Tal T, Myhre O, Fritsche E, Rüegg J, Craenen K, Aiello-Holden K, Agrillo C, Babin PJ, Escher BI, Dirven H, Hellsten K, Dolva K, Hessel E, Heusinkveld HJ, Hadzhiev Y, Hurem S, Jagiello K, Judzinska B, Klüver N, Knoll-Gellida A, Kühne BA, Leist M, Lislien M, Lyche JL, Müller F, Colbourne JK, Neuhaus W, Pallocca G, Seeger B, Scharkin I, Scholz S, Spjuth O, Torres-Ruiz M, Bartmann K. New approach methods to assess developmental and adult neurotoxicity for regulatory use: a PARC work package 5 project. Front Toxicol. 2024 Apr 26;6:1359507. DOI: 10.3389/ftox.2024.1359507

2023

Racine C, Denommé-Pichon AS, Engel C, Tran Mau-Them F, Bruel AL, Vitobello A, Safraou H, Sorlin A, Nambot S, Delanne J, Garde A, Colin E, Moutton S, Thevenon J, Jean-Marçais N, Willems M, Geneviève D, Pinson L, Perrin L, Laffargue F, Lespinasse J, Lacaze E, Molin A, Gerard M, Lambert L, Benigni C, Patat O; Orphanomix Physician’s Group; Bourgeois V, Poe C, Chevarin M, Couturier V, Garret P, Philippe C, Duffourd Y, Faivre L, Thauvin-Robinet C. Multiple molecular diagnoses in the field of intellectual disability and congenital anomalies: 3.5% of all positive cases. J Med Genet. 2023 Dec 21;61(1):36-46. DOI: 10.1136/jmg-2023-109170

de Sainte Agathe JM, Pode-Shakked B, Naudion S, Michaud V, Arveiler B, Fergelot P, Delmas J, Keren B, Poirsier C, Alkuraya FS, Tabarki B, Bend E, Davis K, Bebin M, Thompson ML, Bryant EM, Wagner M, Hannibal I, Lenberg J, Krenn M, Wigby KM, Friedman JR, Iascone M, Cereda A, Miao T, LeGuern E, Argilli E, Sherr E, Caluseriu O, Tidwell T, Bayrak-Toydemir P, Hagedorn C, Brugger M, Vill K, Morneau-Jacob FD, Chung W, Weaver KN, Owens JW, Husami A, Chaudhari BP, Stone BS, Burns K, Li R, de Lange IM, Biehler M, Ginglinger E, Gérard B, Stottmann RW, Trimouille A. ARF1-related disorder: phenotypic and molecular spectrum. J Med Genet. 2023 Oct;60(10):999-1005. Epub 2023 Apr 25. DOI: 10.1136/jmg-2022-108803

Sergouniotis PI, Michaud V, Lasseaux E, Campbell C, Plaisant C, Javerzat S, Birney E, Ramsden SC, Black GC, Arveiler B. A multilayered approach to the analysis of genetic data from individuals with suspected albinism. J Med Genet. 2023 Jul 17:jmg-2022-109088. Epub ahead of print. DOI: 10.1136/jmg-2022-109088

Seguy PH, Korobelnik JF, Delyfer MN, Michaud V, Arveiler B, Lasseaux E, Gattoussi S, Rougier MB, Trin K, Morice-Picard F, Ghomashchi N, Coste V. Ophthalmologic Phenotype-Genotype Correlations in Patients With Oculocutaneous Albinism Followed in a Reference Center. Invest Ophthalmol Vis Sci. 2023 Sep 1;64(12):26. DOI: 10.1167/iovs.64.12.26

Angelini C, Durand CM, Fergelot P, Deforges J, Vital A, Menegon P, Sarrazin E, Bellance R, Mathis S, Gonzalez V, Renaud M, Frismand S, Schmitt E, Rouanet M, Burglen L, Chabrol B, Desnous B, Arveiler B, Stevanin G, Coupry I, Goizet C. Autosomal Dominant MPAN: Mosaicism Expands the Clinical Spectrum to Atypical Late-Onset Phenotypes. Mov Disord. 2023 Aug 21. Epub ahead of print. DOI: 10.1002/mds.29576

Michaud V, Sequeira A, Mercier E, Lasseaux E, Plaisant C, Hadj-Rabia S, Whalen S, Bonneau D, Dieux-Coeslier A, Morice-Picard F, Coursimault J, Arveiler B, Javerzat S. Unsuspected consequences of synonymous and missense variants in OCA2 can be detected in blood cell RNA samples of patients with albinism. Pigment Cell Melanoma Res. 2023 Aug 31. Epub ahead of print. DOI: 10.1111/pcmr.13123

Denommé-Pichon AS, Matalonga L, de Boer E, Jackson A, Benetti E, Banka S, Bruel AL, Ciolfi A, Clayton-Smith J, Dallapiccola B, Duffourd Y, Ellwanger K, Fallerini C, Gilissen C, Graessner H, Haack TB, Havlovicova M, Hoischen A, Jean-Marçais N, Kleefstra T, López-Martín E, Macek M, Mencarelli MA, Moutton S, Pfundt R, Pizzi S, Posada M, Radio FC, Renieri A, Rooryck C, Ryba L, Safraou H, Schwarz M, Tartaglia M, Thauvin-Robinet C, Thevenon J, Tran Mau-Them F, Trimouille A, Votypka P, de Vries BBA, Willemsen MH, Zurek B, Verloes A, Philippe C; Solve-RD DITF-ITHACA; Solve-RD SNV-indel Working Group; Solve-RD Consortia; Orphanomix Group; Vitobello A, Vissers LELM, Faivre L. A Solve-RD ClinVar-based reanalysis of 1522 index cases from ERN-ITHACA reveals common pitfalls and misinterpretations in exome sequencing. Genet Med. 2023 Apr;25(4):100018. Epub 2023 Jan 20. DOI: 10.1016/j.gim.2023.100018

Kohaut E, Ader F, Rooryck C, Pelluard F, Bonnière M, André G, Sauvestre F, Roth P, Khraiche D, Bessières B, Attié-Bitach T, Richard P. Morphological and genetic causes of fetal cardiomyopathies. Clin Genet. 2023 Jul;104(1):63-72. Epub 2023 May 20. DOI: 10.1111/cge.14333

Vadrot N, Ader F, Moulin M, Merlant M, Chapon F, Gandjbakhch E, Labombarda F, Maragnes P, Réant P, Rooryck C, Probst V, Donal E, Richard P, Ferreiro A, Buendia B. Abnormal Cellular Phenotypes Induced by Three TMPO/LAP2 Variants Identified in Men with Cardiomyopathies. Cells. 2023 Jan 16;12(2):337. DOI: 10.3390/cells12020337

Jouret G, Egloff M, Landais E, Tassy O, Giuliano F, Karmous-Benailly H, Coutton C, Satre V, Devillard F, Dieterich K, Vieville G, Kuentz P, le Caignec C, Beneteau C, Isidor B, Nizon M, Callier P, Marquet V, Bieth E, Lévy J, Tabet AC, Lyonnet S, Baujat G, Rio M, Cartault F, Scheidecker S, Gouronc A, Schalk A, Jacquin C, Spodenkiewicz M, Angélini C, Pennamen P, Rooryck C, Doco-Fenzy M, Poirsier C. Clinical and genomic delineation of the new proximal 19p13.3 microduplication syndrome. Am J Med Genet A. 2023 Jan;191(1):52-63. Epub 2022 Oct 5. DOI: 10.1002/ajmg.a.62983

Courdier C, Boudjarane J, Malan V, Muti C, Sperelakis-Beedham B, Odent S, Jaillard S, Quelin C, Le Caignec C, Patat O, Dubucs C, Julia S, Schluth-Bolard C, Goumy C, Redon S, Gaillard JB, Huynh MT, Dupont C, Tabet AC, Cogan G, Vialard F, Dard R, Jedraszak G, Jobic F, Lefebvre M, Quenum G, Inai S, Rama M, Sauvestre F, Coatleven F, Thomas J, Rooryck C. Antenatal ultrasound features of isolated recurrent copy number variation in 7q11.23 (Williams syndrome and 7q11.23 duplication syndrome). Prenat Diagn. 2023 Jun;43(6):734-745. Epub 2023 Mar 23. DOI: 10.1002/pd.6340

De Vriendt M, Rooryck C, Coatleven F, Sarrau M, Vincienne M, Prier P, Naudion S, Sentilhes L, Bouchghoul H. Prise en charge de l’hyperclarté nucale isolée : enquête auprès des Centres pluridisciplinaires de diagnostic prénatal [Management of isolated increased nuchal translucency: survey among the Pluridisciplinary Centers for Prenatal Diagnosis]. Gynecol Obstet Fertil Senol. 2023 Jul-Aug;51(7-8):367-371. French. Epub 2023 Mar 20. DOI: 10.1016/j.gofs.2023.03.007

Tran Mau-Them F, Delanne J, Denommé-Pichon AS, Safraou H, Bruel AL, Vitobello A, Garde A, Nambot S, Bourgon N, Racine C, Sorlin A, Moutton S, Marle N, Rousseau T, Sagot P, Simon E, Vincent-Delorme C, Boute O, Colson C, Petit F, Legendre M, Naudion S, Rooryck C, Prouteau C, Colin E, Guichet A, Ziegler A, Bonneau D, Morel G, Fradin M, Lavillaureix A, Quelin C, Pasquier L, Odent S, Vera G, Goldenberg A, Guerrot AM, Brehin AC, Putoux A, Attia J, Abel C, Blanchet P, Wells CF, Deiller C, Nizon M, Mercier S, Vincent M, Isidor B, Amiel J, Dard R, Godin M, Gruchy N, Jeanne M, Schaeffer E, Maillard PY, Payet F, Jacquemont ML, Francannet C, Sigaudy S, Bergot M, Tisserant E, Ascencio ML, Binquet C, Duffourd Y, Philippe C, Faivre L, Thauvin-Robinet C. Prenatal diagnosis by trio exome sequencing in fetuses with ultrasound anomalies: A powerful diagnostic tool. Front Genet. 2023 Mar 23;14:1099995. DOI: 10.3389/fgene.2023.1099995

Gressens P, Lacombe D, Gobbo J, Garrido C, Westerheide SD, David L, Petitjean M, Taboureau O, Rodrigues-Lima F, Passemard S, Sabéran-Djoneidi D, Nguyen L, Lancaster M, Sistonen L, Mezger V. Author Correction: CBP-HSF2 structural and functional interplay in Rubinstein-Taybi neurodevelopmental disorder. Nat Commun. 2023 Sep 28;14(1):6067. doi: 10.1038/s41467-023-41869-4. Erratum for: Nat Commun. 2022 Nov 16;13(1):7002. DOI: 10.1038/s41467-023-41869-4 *

Lavie J, Lalou C, Mahfouf W, Dupuy JW, Lacaule A, Cywinska AA, Lacombe D, Duchêne AM, Raymond AA, Rezvani HR, Ngondo RP, Bénard G. The E3 ubiquitin ligase FBXL6 controls the quality of newly synthesized mitochondrial ribosomal proteins. Cell Rep. 2023 Jun 27;42(6):112579. Epub 2023 Jun 1. DOI: 10.1016/j.celrep.2023.112579

Courtois S, Angelini C, M Durand C, Dias Amoedo N, Courreges A, Dumon E, Le Quang M, Goizet C, Martin-Negrier ML, Rossignol R, Lacombe D, Coupry I, Trimouille A. Mutation on MT-CO2 gene induces mitochondrial disease associated with neurodegeneration and intracerebral iron accumulation (NBIA). Biochim Biophys Acta Mol Basis Dis. 2023 Aug 26;1870(1):166856. doi: 10.1016/j.bbadis.2023.166856. Epub ahead of print. DOI: 10.1016/j.bbadis.2023.166856

Jin D, Wek SA, Cordova RA, Wek RC, Lacombe D, Michaud V, Musier-Forsyth K. Aminoacylation-defective bi-allelic mutations in human EPRS1 associated with psychomotor developmental delay, epilepsy, and deafness. Clin Genet. 2023 Mar;103(3):358-363. Epub 2022 Dec 1. DOI: 10.1111/cge.14269

Levaillant L, Bouhours-Nouet N, Illouz F, Amsellem Jager J, Bachelot A, Barat P, Baron S, Bensignor C, Brac De La Perriere A, Braik Djellas Y, Caillot M, Caldagues E, Campas MN, Caquard M, Cartault A, Cheignon J, Decrequy A, Delemer B, Dieckmann K, Donzeau A, Doye E, Fradin M, Gaudillière M, Gatelais F, Gorce M, Hazart I, Houcinat N, Houdon L, Ister-Salome M, Jozwiak L, Jeannoel P, Labarthe F, Lacombe D, Lambert AS, Lefevre C, Leheup B, Leroy C, Maisonneuve B, Marchand I, Marquant E, Muszlak M, Pantalone L, Pochelu S, Quelin C, Radet C, Renoult-Pierre P, Reynaud R, Rouleau S, Teinturier C, Thevenon J, Turlotte C, Valle A, Vierge M, Villanueva C, Ziegler A, Dieu X, Bouzamondo N, Rodien P, Prunier-Mirebeau D, Coutant R. The Severity of Congenital Hypothyroidism With Gland-In-Situ Predicts Molecular Yield by Targeted Next-Generation Sequencing. J Clin Endocrinol Metab. 2023 Aug 18;108(9):e779-e788. DOI: 10.1210/clinem/dgad119

Faivre L, Crépin JC, Réda M, Nambot S, Carmignac V, Abadie C, Mirault T, Faure-Conter C, Mazereeuw-Hautier J, Maza A, Puzenat E, Collonge-Rame MA, Bursztejn AC, Philippe C, Thauvin-Robinet C, Chevarin M, Abasq-Thomas C, Amiel J, Arpin S, Barbarot S, Baujat G, Bessis D, Bourrat E, Boute O, Chassaing N, Coubes C, Demeer B, Edery P, El Chehadeh S, Goldenberg A, Hadj-Rabia S, Haye D, Isidor B, Jacquemont ML, Van Kien PK, Lacombe D, Lehalle D, Lambert L, Martin L, Maruani A, Morice-Picard F, Petit F, Phan A, Pinson L, Rossi M, Touraine R, Vanlerberghe C, Vincent M, Vincent-Delorme C, Whalen S, Willems M, Marle N, Verkarre V, Devalland C, Devouassoux-Shisheboran M, Abad M, Rioux-Leclercq N, Bonniaud B, Duffourd Y, Martel J, Binquet C, Kuentz P, Vabres P. Low risk of embryonic and other cancers in PIK3CA-related overgrowth spectrum: Impact on screening recommendations. Clin Genet. 2023 Nov;104(5):554-563. Epub 2023 Aug 14. DOI: 10.1111/cge.14410

Gardin A, Castelle M, Pichard S, Cano A, Chabrol B, Piarroux J, Roubertie A, Nadjar Y, Guemann AS, Tardieu M, Lacombe D, Robert MP, Caillaud C, Froissart R, Leboeuf V, Barbier V, Bouchereau J, Schiff M, Fauroux B, Thierry B, Luscan R, James S, de Saint-Denis T, Pannier S, Gitiaux C, Vergnaud E, Boddaert N, Lascourreges C, Lemoine M, Bonnet D, Blanche S, Dalle JH, Neven B, de Lonlay P, Brassier A. Long term follow-up after haematopoietic stem cell transplantation for mucopolysaccharidosis type I-H: a retrospective study of 51 patients. Bone Marrow Transplant. 2023 Mar;58(3):295-302. Epub 2022 Dec 9. DOI: 10.1038/s41409-022-01886-1

Husson T, Lecoquierre F, Nicolas G, Richard AC, Afenjar A, Audebert-Bellanger S, Badens C, Bilan F, Bizaoui V, Boland A, Bonnet-Dupeyron MN, Brischoux-Boucher E, Bonnet C, Bournez M, Boute O, Brunelle P, Caumes R, Charles P, Chassaing N, Chatron N, Cogné B, Colin E, Cormier-Daire V, Dard R, Dauriat B, Delanne J, Deleuze JF, Demurger F, Denommé-Pichon AS, Depienne C, Dieux A, Dubourg C, Edery P, El Chehadeh S, Faivre L, Fergelot P, Fradin M, Garde A, Geneviève D, Gilbert-Dussardier B, Goizet C, Goldenberg A, Gouy E, Guerrot AM, Guimier A, Harzalla I, Héron D, Isidor B, Lacombe D, Le Guillou Horn X, Keren B, Kuechler A, Lacaze E, Lavillaureix A, Lehalle D, Lesca G, Lespinasse J, Levy J, Lyonnet S, Morel G, Jean-Marçais N, Marlin S, Marsili L, Mignot C, Nambot S, Nizon M, Olaso R, Pasquier L, Perrin L, Petit F, Pingault V, Piton A, Prieur F, Putoux A, Planes M, Odent S, Quélin C, Quemener-Redon S, Rama M, Rio M, Rossi M, Schaefer E, Rondeau S, Saugier-Veber P, Smol T, Sigaudy S, Touraine R, Mau-Them FT, Trimouille A, Van Gils J, Vanlerberghe C, Vantalon V, Vera G, Vincent M, Ziegler A, Guillin O, Campion D, Charbonnier C. Episignatures in practice: independent evaluation of published episignatures for the molecular diagnostics of ten neurodevelopmental disorders. Eur J Hum Genet. 2023 Oct 23.. Epub ahead of print. DOI: 10.1038/s41431-023-01474-x

Schönauer R, Jin W, Findeisen C, Valenzuela I, Devlin LA, Murrell J, Bedoukian EC, Pöschla L, Hantmann E, Riedhammer KM, Hoefele J, Platzer K, Biemann R, Campeau PM, Münch J, Heyne H, Hoffmann A, Ghosh A, Sun W, Dong H, Noé F, Wolfrum C, Woods E, Parker MJ, Neatu R, Le Guyader G, Bruel AL, Perrin L, Spiewak H; Genomics England Research Consortium; Missotte I, Fourgeaud M, Michaud V, Lacombe D, Paolucci SA, Buchan JG, Glissmeyer M, Popp B, Blüher M, Sayer JA, Halbritter J. Monoallelic intragenic POU3F2 variants lead to neurodevelopmental delay and hyperphagic obesity, confirming the gene’s candidacy in 6q16.1 deletions. Am J Hum Genet. 2023 Jun 1;110(6):998-1007. Epub 2023 May 18. DOI: 10.1016/j.ajhg.2023.04.010

Wang Z, Henriques A, Rouvière L, Callizot N, Tan L, Hotchkin MT, Rossignol R, Mortenson MG, Dorfman AR, Ho KS, Wang H. A Mechanism Underpinning the Bioenergetic Metabolism-Regulating Function of Gold Nanocatalysts. Small. 2023 Sep 28:e2304082. Epub ahead of print. DOI: 10.1002/smll.202304082

Sheryazdanova A, Amoedo ND, Dufour S, Impens F, Rossignol R, Sablina A. The deubiquitinase OTUB1 governs lung cancer cell fitness by modulating proteostasis of OXPHOS proteins. Biochim Biophys Acta Mol Basis Dis. 2023 Oct;1869(7):166767. Epub 2023 May 26. DOI: 10.1016/j.bbadis.2023.166767

Guerville F, Vialemaringe M, Cognet C, Duffau P, Lazaro E, Cazanave C, Bonnet F, Leleux O, Rossignol R, Pinson B, Tumiotto C, Gabriel F, Appay V, Déchanet-Merville J, Wittkop L, Faustin B, Pellegrin I; on the behalf of ANRS CO3 Aquitaine / AquiVIH-NA study group. Mechanisms of systemic low-grade inflammation in HIV patients on long-term suppressive antiretroviral therapy: the inflammasome hypothesis. AIDS. 2023 Jun 1;37(7):1035-1046. Epub 2023 Mar 14. DOI: 10.1097/QAD.0000000000003546

Blachier J, Cleret A, Guerin N, Gil C, Fanjat JM, Tavernier F, Vidault L, Gallix F, Rama N, Rossignol R, Piedrahita D, Andrivon A, Châlons-Cottavoz M, Aguera K, Gay F, Horand F, Laperrousaz B. L-asparaginase anti-tumor activity in pancreatic cancer is dependent on its glutaminase activity and resistance is mediated by glutamine synthetase. Exp Cell Res. 2023 May 15;426(2):113568. Epub 2023 Mar 24. DOI: 10.1016/j.yexcr.2023.113568

Louis L, Margaux G, Claire G, Delphine L, Sandrine R, Emmanuel R, Cécile G, Samir M, Isabelle RV. Infantile primary carnitine deficiency: A severe cardiac presentation unresponsive to carnitine supplementation. JIMD Rep. 2022 Nov 9;64(1):35-41. DOI: 10.1002/jmd2.12346

Lechat T, d’Aprigny T, Henriot J, Arthur J, Sylla D, Bénard A, Nouette-Gaulain K. Quick Epidural Top-up with Alkalinized Lidocaine for emergent caesarean delivery (QETAL study): protocol for a randomized, controlled, bicentric trial. Trials. 2023 May 19;24(1):341 DOI: 10.1186/s13063-023-07366-1

Ivanovic Z. Mesenchymal – Stem and non-Stem – Cells: The name of the rose. Transfus Clin Biol. 2023 Aug;30(3):305-306. DOI: 10.1016/j.tracli.2023.03.006

Sentilhes L, Schmitz T, Madar H, Bouchghoul H, Fuchs F, Garabédian C, Korb D, Nouette-Gaulain K, Pécheux O, Sananès N, Sibiude J, Sénat MV, Goffinet F. [The cesarean procedure: Guidelines for clinical practice from the French College of Obstetricians and Gynecologists]. Gynecol Obstet Fertil Senol. 2023 Jan;51(1):7-34. DOI: 10.1016/j.gofs.2022.10.002

Jouret G, Egloff M, Landais E, Tassy O, Giuliano F, Karmous-Benailly H, Coutton C, Satre V, Devillard F, Dieterich K, Vieville G, Kuentz P, le Caignec C, Beneteau C, Isidor B, Nizon M, Callier P, Marquet V, Bieth E, Lévy J, Tabet AC, Lyonnet S, Baujat G, Rio M, Cartault F, Scheidecker S, Gouronc A, Schalk A, Jacquin C, Spodenkiewicz M, Angélini C, Pennamen P, Rooryck C, Doco-Fenzy M, Poirsier C. Clinical and genomic delineation of the new proximal 19p13.3 microduplication syndrome. Am J Med Genet A. 2023 Jan;191(1):52-63. DOI: 10.1002/ajmg.a.62983

2022

Liautard-Haag C, Durif G, VanGoethem C, Baux D, Louis A, Cayrefourcq L, Lamairia M, Willems M, Zordan C, Dorian V, Rooryck C, Goizet C, Chaussenot A, Monteil L, Calvas P, Miry C, Favre R, Le Boette E, Fradin M, Roux AF, Cossée M, Koenig M, Alix-Panabière C, Guissart C, Vincent MC. Noninvasive prenatal diagnosis of genetic diseases induced by triplet repeat expansion by linked read haplotyping and Bayesian approach. Sci Rep. 2022 Jul 6;12(1):11423. DOI: 10.1038/s41598-022-15307-2

Celse T, Tingaud-Sequeira A, Dieterich K, Siegfried G, Lecaignec C, Bouneau L, Fannemel M, Salaun G, Laffargue F, Martinez G, Satre V, Vieville G, Bidart M, Soussi Zander C, Turesson AC, Splitt M, Reboul D, Chiesa J, Khau Van Kien P, Godin M, Gruchy N, Goel H, Palmer E, Demetriou K, Shalhoub C, Rooryck C, Coutton C. OTX2 duplications: a recurrent cause of oculo-auriculo-vertebral spectrum. J Med Genet. 2022 Nov 11:jmedgenet-2022-108678. DOI: 10.1136/jmg-2022-108678

Schalk A, Cousin MA, Dsouza NR, Challman TD, Wain KE, Powis Z, Minks K, Trimouille A, Lasseaux E, Lacombe D, Angelini C, Michaud V, Van-Gils J, Spataro N, Ruiz A, Gabau E, Stolerman E, Washington C, Louie R, Lanpher BC, Kemppainen JL, Innes M, Kooy F, Meuwissen M, Goldenberg A, Lecoquierre F, Vera G, Diderich KEM, Sheidley B, El Achkar CM, Park M, Hamdan FF, Michaud JL, Lewis AJ, Zweier C, Reis A, Wagner M, Weigand H, Journel H, Keren B, Passemard S, Mignot C, van Gassen K, Brilstra EH, Itzikowitz G, O’Heir E, Allen J, Donald KA, Korf BR, Skelton T, Thompson M, Robin NH, Rudy NL, Dobyns WB, Foss K, Zarate YA, Bosanko KA, Alembik Y, Durand B, Tran Mau-Them F, Ranza E, Blanc X, Antonarakis SE, McWalter K, Torti E, Millan F, Dameron A, Tokita M, Zimmermann MT, Klee EW, Piton A, Gerard B. De novo coding variants in the AGO1 gene cause a neurodevelopmental disorder with intellectual disability. J Med Genet. 2022 Oct;59(10):965-975. DOI: 10.1136/jmedgenet-2021-107751

de Thonel A, Ahlskog JK, Daupin K, Dubreuil V, Berthelet J, Chaput C, Pires G, Leonetti C, Abane R, Barris LC, Leray I, Aalto AL, Naceri S, Cordonnier M, Benasolo C, Sanial M, Duchateau A, Vihervaara A, Puustinen MC, Miozzo F, Fergelot P, Lebigot É, Verloes A, Gressens P, Lacombe D, Gobbo J, Garrido C, Westerheide SD, David L, Petitjean M, Taboureau O, Rodrigues-Lima F, Passemard S, Sabéran-Djoneidi D, Nguyen L, Lancaster M, Sistonen L, Mezger V. CBP-HSF2 structural and functional interplay in Rubinstein-Taybi neurodevelopmental disorder. Nat Commun. 2022 Nov 16;13(1):7002. DOI: 10.1038/s41467-022-34476-2

Alvarez MS, Núñez E, Fuertes-Agudo M, Cucarella C, Fernandez-Velasco M, Boscá L, Vázquez J, Rossignol R, Martin-Sanz P, Casado M. Quantitative Proteomics Analysis Reveals That Cyclooxygenase-2 Modulates Mitochondrial Respiratory Chain Complex IV in Cardiomyocytes. Int J Mol Sci. 2022 Nov 3;23(21):13476. DOI: 10.3390/ijms232113476

Alannan M, Trézéguet V, Amoêdo ND, Rossignol R, Mahfouf W, Rezvani HR, Dittrich-Domergue F, Moreau P, Lacomme S, Gontier E, Grosset CF, Badran B, Fayyad-Kazan H, Merched AJ. Rewiring Lipid Metabolism by Targeting PCSK9 and HMGCR to Treat Liver Cancer. Cancers (Basel). 2022 Dec 20;15(1):3. DOI: 10.3390/cancers15010003

Tingaud-Sequeira A, Mercier E, Michaud V, Pinson B, Gazova I, Gontier E, Decoeur F, McKie L, Jackson IJ, Arveiler B, Javerzat S. The Dct-/- Mouse Model to Unravel Retinogenesis Misregulation in Patients with Albinism. Genes (Basel). 2022 Jun 27;13(7):1164. DOI: 10.3390/genes13071164

Michaud V, Lasseaux E, Green DJ, Gerrard DT, Plaisant C; UK Biobank Eye and Vision Consortium, Fitzgerald T, Birney E, Arveiler B, Black GC, Sergouniotis PI. The contribution of common regulatory and protein-coding TYR variants to the genetic architecture of albinism. Nat Commun. 2022 Jul 8;13(1):3939. DOI: 10.1038/s41467-022-31392-3

Lejoyeux R, Alonso AS, Lafolie J, Michaud V, Lasseaux E, Vasseur V, Derrien S, Robert MP, Le Mer Y, Tadayoni R, Arveiler B, Mauget-Faÿsse M. Foveal hypoplasia in parents of patients with albinism. Ophthalmic Genet. 2022 Sep 13:1-7. doi: 10.1080/13816810.2022.2121841. Epub ahead of print. DOI: 10.1080/13816810.2022.2121841

Denamur S, Touati G, Debelleix S, Damaj L, Barth M, Tardieu M, Gorce M, Broué P, Lacombe D, Labarthe F. Recommended respiratory tests are not routinely performed for mucopolysaccharidosis patients. ERJ Open Res. 2021 Feb 7;8(1):00567-2021. doi: 10.1183/23120541.00567-2021. DOI: 10.1183/23120541.00567-2021

Asquier-Khati A, Mauhin W, Michel G, Gendre A, Durant C, Lavigne C, Maillard H, Lacombe D, Willems M, Lidove O, Masseau A. Cochleovestibular involvement in patients with Fabry disease: data from the multicenter cohort FFABRY. Eur Arch Otorhinolaryngol. 2022 Mar;279(3):1639-1644. DOI: 10.1007/s00405-021-07173-x

Coursimault J, Cassinari K, Lecoquierre F, Quenez O, Coutant S, Derambure C, Vezain M, Drouot N, Vera G, Schaefer E, Philippe A, Doray B, Lambert L, Ghoumid J, Smol T, Rama M, Legendre M, Lacombe D, Fergelot P, Olaso R, Boland A, Deleuze JF, Goldenberg A, Saugier-Veber P, Nicolas G. Deep intronic NIPBL de novo mutations and differential diagnoses revealed by whole genome and RNA sequencing in Cornelia de Lange syndrome patients. Hum Mutat. 2022 Jul 16. doi: 10.1002/humu.24438. Epub ahead of print. DOI: 10.1002/humu.24438

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Chesneau B, Aubert-Mucca M, Fremont F, Pechmeja J, Soler V, Isidor B, Nizon M, Dollfus H, Kaplan J, Fares-Taie L, Rozet JM, Busa T, Lacombe D, Naudion S, Amiel J, Rio M, Attie-Bitach T, Lesage C, Thouvenin D, Odent S, Morel G, Vincent-Delorme C, Boute O, Vanlerberghe C, Dieux A, Boussion S, Faivre L, Pinson L, Laffargue F, Le Guyader G, Le Meur G, Prieur F, Lambert V, Laudier B, Cottereau E, Ayuso C, Corton-Pérez M, Bouneau L, Le Caignec C, Gaston V, Jeanton-Scaramouche C, Dupin-Deguine D, Calvas P, Chassaing N, Plaisancié J. First evidence of SOX2 mutations in Peters’ anomaly: Lessons from molecular screening of 95 patients. Clin Genet. 2022 May;101(5-6):494-506. DOI: 10.1111/cge.14123

Lacombe D, Van-Gils J, Lebrun M, Trimouille A, Michaud V, Cabet S, Chateil JF, Pedespan JM, Bar C, Lesca G. Hemidystonia with polymicrogyria is part of ATP1A3-related disorders. Brain Dev. 2022 May 24:S0387-7604(22)00082-1. DOI: 10.1016/j.braindev.2022.05.001

Tingaud-Sequeira A, Trimouille A, Sagardoy T, Lacombe D, Rooryck C. Oculo-auriculo-vertebral spectrum: new genes and literature review on a complex disease. J Med Genet. 2022 May;59(5):417-427. DOI: 10.1136/jmedgenet-2021-108219

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Douzgou S, Dell’Oro J, Fonseca CR, Rei A, Mullins J, Jusiewicz I, Huisman S, Simpson BN, Vyshka K, Milani D, Bartsch O, Lacombe D, García-Miñaúr S, Hennekam RCM. The natural history of adults with Rubinstein-Taybi syndrome: a families-reported experience. Eur J Hum Genet. 2022 Apr 6. DOI: 10.1038/s41431-022-01097-8

de Boer E, Yaldiz B, Denommé-Pichon AS, Matalonga L, Laurie S; Solve-RD SNV-indel working group; Solve-RD-DITF-ITHACA. Genome-wide variant calling in reanalysis of exome sequencing data uncovered a pathogenic TUBB3 variant. Eur J Med Genet. 2022 Jan;65(1):104402. DOI: 10.1016/j.ejmg.2021.104402

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Kassotis CD, Vom Saal FS, Babin PJ, Lagadic-Gossmann D, Le Mentec H, Blumberg B, Mohajer N, Legrand A, Munic Kos V, Martin-Chouly C, Podechard N, Langouët S, Touma C, Barouki R, Kim MJ, Audouze K, Choudhury M, Shree N, Bansal A, Howard S, Heindel JJ. Obesity III: Obesogen assays: Limitations, strengths, and new directions. Biochem Pharmacol. 2022 May;199:115014. DOI: 10.1016/j.bcp.2022.115014

Kassotis CD, Vom Saal FS, Babin PJ, Lagadic-Gossmann D, Le Mentec H, Blumberg B, Mohajer N, Legrand A, Munic Kos V, Martin-Chouly C, Podechard N, Langouët S, Touma C, Barouki R, Kim MJ, Audouze K, Choudhury M, Shree N, Bansal A, Howard S, Heindel JJ. Corrigendum to “Obesity III: Obesogen assays: Limitations, strengths, and new directions” [Biochem. Pharmacol. 199 (2022) 115014]. Biochem Pharmacol. 2022 Jun 15;202:115145. DOI: 10.1016/j.bcp.2022.115145

Mauhin W, Tebani A, Amelin D, Abily-Donval L, Lamari F, London J, Douillard C, Dussol B, Leguy-Seguin V, Noel E, Masseau A, Lacombe D, Maillard H, Bekri S, Lidove O, Benveniste O. Sphingosine-1-Phosphate Levels Are Higher in Male Patients with Non-Classic Fabry Disease. J Clin Med. 2022 Feb 24;11(5):1233. DOI: 10.3390/jcm11051233

Sarlak S, Lalou C, Sant’Anna-Silva ACB, Mafhouf W, De Luise M, Rousseau B, Izotte J, Claverol S, Lacombe D, Nikitopoulou E, Yang M, Oliveira M, Frezza C, Gasparre G, Rezvani HR, Amoedo ND, Rossignol R. Lung Tumor Growth Promotion by Tobacco-Specific Nitrosamines Involves the β2-Adrenergic Receptors-Dependent Stimulation of Mitochondrial REDOX Signaling. Antioxid Redox Signal. 2022 Mar;36(7-9):525-549. DOI: 10.1089/ars.2020.8259

Dard L, Hubert C, Esteves P, Blanchard W, Bou About G, Baldasseroni L, Dumon E, Angelini C, Delourme M, Guyonnet-Dupérat V, Claverol S, Fontenille L, Kissa K, Séguéla PE, Thambo JB, Nicolas L, Herault Y, Bellance N, Dias Amoedo N, Magdinier F, Sorg T, Lacombe D, Rossignol R. HRAS germline mutations impair LKB1/AMPK signaling and mitochondrial homeostasis in Costello syndrome models. J Clin Invest. 2022 Apr 15;132(8):e131053. DOI: 10.1172/JCI131053

Kruijt CC, Gradstein L, Bergen AA, Florijn RJ, Arveiler B, Lasseaux E, Zanlonghi X, Bagdonaite-Bejarano L, Fulton AB, Yahalom C, Blumenfeld A, Perez Y, Birk OS, de Wit GC, Schalij-Delfos NE, van Genderen MM. The Phenotypic and Mutational Spectrum of the FHONDA Syndrome and Oculocutaneous Albinism: Similarities and Differences. Invest Ophthalmol Vis Sci. 2022 Jan 3;63(1):19. DOI: 10.1167/iovs.63.1.19

Kuht HJ, Maconachie GDE, Han J, Kessel L, van Genderen MM, McLean RJ, Hisaund M, Tu Z, Hertle RW, Gronskov K, Bai D, Wei A, Li W, Jiao Y, Smirnov V, Choi JH, Tobin MD, Sheth V, Purohit R, Dawar B, Girach A, Strul S, May L, Chen FK, Heath Jeffery RC, Aamir A, Sano R, Jin J, Brooks BP, Kohl S, Arveiler B, Montoliu L, Engle EC, Proudlock FA, Nishad G, Pani P, Varma G, Gottlob I, Thomas MG. Genotypic and Phenotypic Spectrum of Foveal Hypoplasia: A Multicenter Study. Ophthalmology. 2022 Feb 11:S0161-6420(22)00126-9. DOI: 10.1016/j.ophtha.2022.02.010

Szenker-Ravi E, Ott T, Khatoo M, de Bellaing AM, Goh WX, Chong YL, Beckers A, Kannesan D, Louvel G, Anujan P, Ravi V, Bonnard C, Moutton S, Schoen P, Fradin M, Colin E, Megarbane A, Daou L, Chehab G, Di Filippo S, Rooryck C, Deleuze JF, Boland A, Arribard N, Eker R, Tohari S, Ng AY, Rio M, Lim CT, Eisenhaber B, Eisenhaber F, Venkatesh B, Amiel J, Crollius HR, Gordon CT, Gossler A, Roy S, Attie-Bitach T, Blum M, Bouvagnet P, Reversade B. Publisher Correction: Discovery of a genetic module essential for assigning left-right asymmetry in humans and ancestral vertebrates. Nat Genet. 2022 Mar 18. doi: 10.1038/s41588-022-01053-8. Epub ahead of print. Erratum for: Nat Genet. 2022 Jan;54(1):62-72. doi: 10.1038/s41588-022-01053-8. Online ahead of print.

Barc J, Tadros R, Glinge C, Chiang DY, Jouni M, Simonet F, Jurgens SJ, Baudic M, Nicastro M, Potet F, Offerhaus JA, Walsh R, Choi SH, Verkerk AO, Mizusawa Y, Anys S, Minois D, Arnaud M, Duchateau J, Wijeyeratne YD, Muir A, Papadakis M, Castelletti S, Torchio M, Ortuño CG, Lacunza J, Giachino DF, Cerrato N, Martins RP, Campuzano O, Van Dooren S, Thollet A, Kyndt F, Mazzanti A, Clémenty N, Bisson A, Corveleyn A, Stallmeyer B, Dittmann S, Saenen J, Noël A, Honarbakhsh S, Rudic B, Marzak H, Rowe MK, Federspiel C, Le Page S, Placide L, Milhem A, Barajas-Martinez H, Beckmann BM, Krapels IP, Steinfurt J, Winkel BG, Jabbari R, Shoemaker MB, Boukens BJ, Škorić-Milosavljević D, Bikker H, Manevy F, Lichtner P, Ribasés M, Meitinger T, Müller-Nurasyid M; KORA-Study Group, Veldink JH, van den Berg LH, Van Damme P, Cusi D, Lanzani C, Rigade S, Charpentier E, Baron E, Bonnaud S, Lecointe S, Donnart A, Le Marec H, Chatel S, Karakachoff M, Bézieau S, London B, Tfelt-Hansen J, Roden D, Odening KE, Cerrone M, Chinitz LA, Volders PG, van de Berg MP, Laurent G, Faivre L, Antzelevitch C, Kääb S, Arnaout AA, Dupuis JM, Pasquie JL, Billon O, Roberts JD, Jesel L, Borggrefe M, Lambiase PD, Mansourati J, Loeys B, Leenhardt A, Guicheney P, Maury P, Schulze-Bahr E, Robyns T, Breckpot J, Babuty D, Priori SG, Napolitano C; Nantes Referral Center for inherited cardiac arrhythmia, de Asmundis C, Brugada P, Brugada R, Arbelo E, Brugada J, Mabo P, Behar N, Giustetto C, Molina MS, Gimeno JR, Hasdemir C, Schwartz PJ, Crotti L, McKeown PP, Sharma S, Behr ER, Haissaguerre M, Sacher F, Rooryck C, Tan HL, Remme CA, Postema PG, Delmar M, Ellinor PT, Lubitz SA, Gourraud JB, Tanck MW, George AL Jr, MacRae CA, Burridge PW, Dina C, Probst V, Wilde AA, Schott JJ, Redon R, Bezzina CR. Genome-wide association analyses identify new Brugada syndrome risk loci and highlight a new mechanism of sodium channel regulation in disease susceptibility. Nat Genet. 2022 Mar;54(3):232-239. DOI: 10.1038/s41588-021-01007-6. Epub 2022 Feb 24.

Barc J, Tadros R, Glinge C, Chiang DY, Jouni M, Simonet F, Jurgens SJ, Baudic M, Nicastro M, Potet F, Offerhaus JA, Walsh R, Choi SH, Verkerk AO, Mizusawa Y, Anys S, Minois D, Arnaud M, Duchateau J, Wijeyeratne YD, Muir A, Papadakis M, Castelletti S, Torchio M, Ortuño CG, Lacunza J, Giachino DF, Cerrato N, Martins RP, Campuzano O, Van Dooren S, Thollet A, Kyndt F, Mazzanti A, Clémenty N, Bisson A, Corveleyn A, Stallmeyer B, Dittmann S, Saenen J, Noël A, Honarbakhsh S, Rudic B, Marzak H, Rowe MK, Federspiel C, Le Page S, Placide L, Milhem A, Barajas-Martinez H, Beckmann BM, Krapels IP, Steinfurt J, Winkel BG, Jabbari R, Shoemaker MB, Boukens BJ, Škorić-Milosavljević D, Bikker H, Manevy F, Lichtner P, Ribasés M, Meitinger T, Müller-Nurasyid M; KORA-Study Group, Veldink JH, van den Berg LH, Van Damme P, Cusi D, Lanzani C, Rigade S, Charpentier E, Baron E, Bonnaud S, Lecointe S, Donnart A, Le Marec H, Chatel S, Karakachoff M, Bézieau S, London B, Tfelt-Hansen J, Roden D, Odening KE, Cerrone M, Chinitz LA, Volders PG, van de Berg MP, Laurent G, Faivre L, Antzelevitch C, Kääb S, Arnaout AA, Dupuis JM, Pasquie JL, Billon O, Roberts JD, Jesel L, Borggrefe M, Lambiase PD, Mansourati J, Loeys B, Leenhardt A, Guicheney P, Maury P, Schulze-Bahr E, Robyns T, Breckpot J, Babuty D, Priori SG, Napolitano C; Nantes Referral Center for inherited cardiac arrhythmia, de Asmundis C, Brugada P, Brugada R, Arbelo E, Brugada J, Mabo P, Behar N, Giustetto C, Molina MS, Gimeno JR, Hasdemir C, Schwartz PJ, Crotti L, McKeown PP, Sharma S, Behr ER, Haissaguerre M, Sacher F, Rooryck C, Tan HL, Remme CA, Postema PG, Delmar M, Ellinor PT, Lubitz SA, Gourraud JB, Tanck MW, George AL Jr, MacRae CA, Burridge PW, Dina C, Probst V, Wilde AA, Schott JJ, Redon R, Bezzina CR. Author Correction: Genome-wide association analyses identify new Brugada syndrome risk loci and highlight a new mechanism of sodium channel regulation in disease susceptibility. Nat Genet. 2022 Apr 26. doi: 10.1038/s41588-022-01079-y. Epub ahead of print. Erratum for: Nat Genet. 2022 Mar;54(3):232-239. DOI: 10.1038/s41588-022-01079-y

Foroutan A, Haghshenas S, Bhai P, Levy MA, Kerkhof J, McConkey H, Niceta M, Ciolfi A, Pedace L, Miele E, Genevieve D, Heide S, Alders M, Zampino G, Merla G, Fradin M, Bieth E, Bonneau D, Dieterich K, Fergelot P, Schaefer E, Faivre L, Vitobello A, Maitz S, Fischetto R, Gervasini C, Piccione M, van de Laar I, Tartaglia M, Sadikovic B, Lebre AS. Clinical Utility of a Unique Genome-Wide DNA Methylation Signature for KMT2A-Related Syndrome. Int J Mol Sci. 2022 Feb 5;23(3):1815. DOI: 10.3390/ijms23031815

Mütze U, Gleich F, Garbade SF, Plisson C, Aldámiz-Echevarría L, Arrieta F, Ballhausen D, Zielonka M, Petković Ramadža D, Baumgartner MR, Cano A, García Jiménez MC, Dionisi-Vici C, Ješina P, Blom HJ, Couce ML, Meavilla Olivas S, Mention K, Mochel F, Morris AAM, Mundy H, Redonnet-Vernhet I, Santra S, Schiff M, Servais A, Vitoria I, Huemer M, Kožich V, Kölker S. Postauthorization safety study of betaine anhydrous. J Inherit Metab Dis. 2022 Mar 31. DOI: 10.1002/jimd.12499

Joannes-Boyau O, Dahyot-Fizelier C; SFAR Board; SFAR Critical Care Committee. Lack of vaccination in ventilated patients for SARS-CoV-2 in France. Anaesth Crit Care Pain Med. 2022 Apr;41(2):101021. DOI: 10.1016/j.accpm.2022.101021

Dahmani S, Laffargue A, Dadure C, De Queiroz M, Julien-Marsollier F, Michelet D, Veyckemans F, Amory C, Ludot H, Bert D, Godart J, Laffargue A, Dupont H, Urbina B, Baujard C, Roulleau P, Staiti G, Bordes M, Nouette Gaulain K, Hamonic Y, Semjen F, Jacqmarcq O, Lejus-Bourdeau C, Magne C, Petry L, Ros L, Zang A, Bennis M, Coustets B, Fesseau R, Constant I, Khalil E, Sabourdin N, Audren N, Descarpentries T, Fabre F, Legrand A, Druot E, Orliaguet G, Sabau L, Uhrig L, De La Briere F, Jonckheer K, Mission JP, Scordo L, Couchepin C, Dadure C, De La Arena P, Hertz L, Pirat P, Sola C, Bellon M, Depret-Donatien V, Lesage A. Epidemiology and complications of anaesthesia in the French centres that participated to NECTARINE: A secondary analysis. Anaesth Crit Care Pain Med. 2022 Apr;41(2):101036. DOI: 10.1016/j.accpm.2022.101036

Roullet S, Rivoire T, Houssin C, Labrouche S, Paquin S, Nouette-Gaulain K, Deneux-Tharaux C, Amiral J, James C, Sentilhes L. Hemostatic Effects of Tranexamic Acid in Cesarean Delivery: An Ancillary Study of the TRAAP2 Study. Thromb Haemost. 2022 Nov;122(11):1869-1878. DOI: 10.1055/s-0042-1755379

Bastier PL, Gallet de Santerre O, Bartier S, De Jong A, Trzepizur W, Nouette-Gaulain K, Bironneau V, Blumen M, Chabolle F, de Bonnecaze G, Dufour X, Ameline E, Kérimian M, Latournerie V, Monteyrol PJ, Thiery A, Tronche S, Vergez S, Bequignon E. Guidelines of the French Society of ENT (SFORL): Drug-induced sleep endoscopy in adult obstructive sleep apnea syndrome. Eur Ann Otorhinolaryngol Head Neck Dis. 2022 Aug;139(4):216-225. doi: 10.1016/j.anorl.2022.05.003. Epub 2022 Jul 22. PMID: 35871981. DOI: 10.1016/j.anorl.2022.05.003

Potvin J, Etchebarne I, Soubiron L, Biais M, Roullet S, Nouette-Gaulain K. Effects of capnometry monitoring during recovery in the post-anaesthesia care unit: a randomized controlled trial in adults (CAPNOSSPI). J Clin Monit Comput. 2022 Apr;36(2):379-385. DOI: 10.1007/s10877-021-00661-9

Bost M, Richard E, Redonnet-Vernhet I, Parant F, Boulet L, Dupré T, Collin-Chavagnac D, Mesli S, Beauvieux MC; Groupe de Travail de la SFBC « Marqueurs biochimiques de Covid-19 ». Revue des facteurs nutritionnels dans la Covid-19 : qu’en est-il des micronutriments ? [Review of nutritional components in Covid-19: what about micronutrients?]. Ann Biol Clin (Paris). 2022 Jul 1;80(4):319-331. French. DOI: 10.1684/abc.2022.1741

2021

Billon C, Adham S, Hernandez Poblete N, Legrand A, Frank M, Chiche L, Zuily S, Benistan K, Savale L, Zaafrane-Khachnaoui K, Brehin AC, Bal L, Busa T, Fradin M, Quelin C, Chesneau B, Wahl D, Fergelot P, Goizet C, Mirault T, Jeunemaitre X, Albuisson J; Bordeaux-cohort collaborators. Cardiovascular and connective tissue disorder features in FLNA-related PVNH patients: progress towards a refined delineation of this syndrome. Orphanet J Rare Dis. 4 décembre 2021;16(1):504. DOI : 10.1186/s13023-021-02128-1

Messiaen C, Racine C, Khatim A, Soussand L, Odent S, Lacombe D, Manouvrier S, Edery P, Sigaudy S, Geneviève D, Thauvin-Robinet C, Pasquier L, Petit F, Rossi M, Willems M, Attié-Bitach T, Roux-Levy PH, Demougeot L, Slama LB, Landais P; AnDDI-Rares network, Jannot AS, Binquet C, Sandrin A, Verloes A, Faivre L. 10 years of CEMARA database in the AnDDI-Rares network: a unique resource facilitating research and epidemiology in developmental disorders in France. Orphanet J Rare Dis 2021 Aug 4;16(1):345. DOI: 10.1186/s13023-021-01957-4

Angles E, Robin F, Moal B, Roy M, Sesay M, Ouattara A, Biais M, Roullet S, Saillour-Glénisson F, Nouette-Gaulain K. Pre-operative peripheral intravenous cannula insertion failure at the first attempt in adults: Development of the VENSCORE predictive scale and identification of risk factors. J Clin Anesth 2021 Dec;75:110435. DOI: 10.1016/j.jclinane.2021.110435

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Schneider AG, Picard W, Honoré PM, Dewitte A, Mesli S, Redonnet-Vernhet I, Fleureau C, Ouattara A, Berger MM, Joannes-Boyau O. Amino acids and vitamins status during continuous renal replacement therapy: An ancillary prospective observational study of a randomised control trial. Anaesth Crit Care Pain Med. 2021 Apr;40(2):100813 DOI: 10.1016/j.accpm.2021.100813

Nguyen TL, Nokin MJ, Terés S, Tomé M, Bodineau C, Galmar O, Pasquet JM, Rousseau B, van Liempd S, Falcon-Perez JM, Richard E, Muzotte E, Rezvani HR, Priault M, Bouchecareilh M, Redonnet-Vernhet I, Calvo J, Uzan B, Pflumio F, Fuentes P, Toribio ML, Khatib AM, Soubeyran P, Murdoch PDS, Durán RV. Downregulation of Glutamine Synthetase, not glutaminolysis, is responsible for glutamine addiction in Notch1-driven acute lymphoblastic leukemia. Mol Oncol. 2021 May;15(5):1412-1431. DOI: 10.1002/1878-0261.12877

Toquet S, Spodenkiewicz M, Douillard C, Maillot F, Arnoux JB, Damaj L, Odent S, Moreau C, Redonnet-Vernhet I, Mesli S, Servais A, Noel E, Charriere S, Rigalleau V, Lavigne C, Kaphan E, Roubertie A, Besson G, Bigot A, Servettaz A, Mochel F, Garnotel R. Adult-onset diagnosis of urea cycle disorders: Results of a French cohort of 71 patients. J Inherit Metab Dis. 2021 Sep;44(5):1199-1214. DOI: 10.1002/jimd.12403

Disma N, Virag K, Riva T, Kaufmann J, Engelhardt T, Habre W; NECTARINE Group of the European Society of Anaesthesiology Clinical Trial Network; AUSTRIA (Maria Vittinghoff); BELGIUM (Francis Veyckemans); CROATIA (Sandra Kralik); CZECH REPUBLIC (Jiří Žurek); DENMARK (Tom Hansen); ESTONIA (Reet Kikas); FINLAND (Tuula Manner); FRANCE (Christophe Dadure, Anne Lafargue); GERMANY (Karin Becke, Claudia Hoehne); GREECE (Anna Malisiova); HUNGARY (Andrea Székely); IRELAND (Brendan O’Hare); ITALY (Nicola Disma); LATVIA (Zane Straume); LITHUANIA (Laura Lukosiene); LUXEMBOURG (Bernd Schmitz); MALTA (Francis Borg); NETHERLANDS (Jurgen de Graaff); NORWAY (Wenche B Boerke); POLAND (Marzena Zielinska); PORTUGAL (Maria Domingas Patuleia); ROMANIA (Radu Tabacaru); SERBIA (Dusica Simic); SLOVAKIA (Miloslav Hanula); SLOVENIA (Jelena Berger); SPAIN (Ignacio Gálvez Escalera); SWEDEN (Albert Castellheim); SWITZERLAND (Walid Habre); TURKEY (Dilek Özcengiz – Zehra Hatipoğlu); UKRAINE (Dmytro Dmytriiev); UNITED KINGDOM (Thomas Engelhardt, Suellen Walker); Management Team. Difficult tracheal intubation in neonates and infants. NEonate and Children audiT of Anaesthesia pRactice IN Europe (NECTARINE): a prospective European multicentre observational study. Br J Anaesth. 2021 Jun;126(6):1173-1181. Erratum in: Br J Anaesth. 2021 Aug;127(2):326. DOI: 10.1016/j.bja.2021.02.021

Disma N, Virag K, Riva T, Kaufmann J, Engelhardt T, Habre W; NECTARINE Group of the European Society of Anaesthesiology Clinical Trial Network; AUSTRIA (Maria Vittinghoff); BELGIUM (Francis Veyckemans); CROATIA (Sandra Kralik); CZECH REPUBLIC (Jiří Žurek); DENMARK (Tom Hansen); ESTONIA (Reet Kikas); FINLAND (Tuula Manner); FRANCE (Christophe Dadure, Anne Lafargue); GERMANY (Karin Becke, Claudia Hoehne); GREECE (Anna Malisiova); HUNGARY (Andrea Székely); IRELAND (Brendan O’Hare); ITALY (Nicola Disma); LATVIA (Zane Straume); LITHUANIA (Laura Lukosiene); LUXEMBOURG (Bernd Schmitz); MALTA (Francis Borg); NETHERLANDS (Jurgen de Graaff); NORWAY (Wenche B Boerke); POLAND (Marzena Zielinska); PORTUGAL (Maria Domingas Patuleia); ROMANIA (Radu Tabacaru); SERBIA (Dusica Simic); SLOVAKIA (Miloslav Hanula); SLOVENIA (Jelena Berger); SPAIN (Ignacio Gálvez Escalera); SWEDEN (Albert Castellheim); SWITZERLAND (Walid Habre); TURKEY (Dilek Özcengiz – Zehra Hatipoğlu); UKRAINE (Dmytro Dmytriiev); UNITED KINGDOM (Thomas Engelhardt, Suellen Walker); Management Team. Corrigendum to ‘Difficult tracheal intubation in neonates and infants. NEonate and Children audiT of Anaesthesia pRactice IN Europe (NECTARINE): a prospective European multicentre observational study’ (Br J Anaesth 2021; 126: 1173-81). Br J Anaesth. 2021 Aug;127(2):326. Erratum for: Br J Anaesth. 2021 Jun;126(6):1173-1181. DOI: 10.1016/j.bja.2021.05.015

Kožich V, Sokolová J, Morris AAM, Pavlíková M, Gleich F, Kölker S, Krijt J, Dionisi-Vici C, Baumgartner MR, Blom HJ, Huemer M; E-HOD consortium. Cystathionine β-synthase deficiency in the E-HOD registry-part I: pyridoxine responsiveness as a determinant of biochemical and clinical phenotype at diagnosis. J Inherit Metab Dis. 2021 May;44(3):677-692. DOI: 10.1002/jimd.12338

2020

Bataille P, Michaud V, Robert MP, Bekel L, Leclerc-Mercier S, Harroche A, Célérier C, Lasseaux E, Borgel D, Bremond-Gignac D, Bodemer C, Arveiler B, Hadj-Rabia S. Clinical variability and probable founder effect in oculocutaneous albinism type 7. Clin Genet. 2020 Mar;97(3):527-528. DOI: 10.1111/cge.13655

Arveiler B, Michaud V, Lasseaux E. Albinism: An Underdiagnosed Condition. J Invest Dermatol. 2020 Jul;140(7):1449-1451. DOI: 10.1016/j.jid.2019.12.010

Pennamen P, Le L, Tingaud-Sequeira A, Fiore M, Bauters A, Van Duong Béatrice N, Coste V, Bordet JC, Plaisant C, Diallo M, Michaud V, Trimouille A, Lacombe D, Lasseaux E, Delevoye C, Morice-Picard F, Delobel B, Marks MS, Arveiler B. BLOC1S5 Pathogenic Variants Cause a New Type of Hermansky-Pudlak Syndrome. Genet Med. 2020 Oct;22(10):1613-1622. DOI: 10.1038/s41436-020-0867-5

Esteves P, Dard L, Brillac A, Hubert C, Sarlak S, Rousseau B, Dumon E, Izotte J, Bonneu M, Lacombe D, Dupuy JW, Amoedo N, Rossignol R. Nuclear control of lung cancer cells migration, invasion and bioenergetics by eukaryotic translation initiation factor 3F. Oncogene. 2020 Jan;39(3):617-636. DOI: 10.1038/s41388-019-1009-x

Bellance N#, Furt F, Melser S, Lalou C, Thoraval D, Maneta-Peyret L, Lacombe D, Moreau P, Rossignol R. Doxorubicin Inhibits Phosphatidylserine Decarboxylase and Modifies Mitochondrial Membrane Composition in HeLa Cells. Int J Mol Sci. 2020 Feb 15;21(4). (#, Corresponding author). DOI: 10.3390/ijms21041317

Dias Amoedo N, Dard L, Sarlak S, Mahfouf W, Rousseau B, Izotte J, Claverol S, Bonneu M, Lacombe D, Rezvani HR, Pierri CL and Rossignol R. Targeting human lung adenocarcinoma with a suppressor of mitochondrial superoxide production. Antioxydant & Redox Signaling. 2020 Nov 1;33(13):883-902. DOI: 10.1089/ars.2019.7892

Aurélien Trimouille , Angele Tingaud-Sequeira, Didier Lacombe, Tina Duelund Hjortshøj, Sven Kreiborg, Hanne Buciek Hove, Caroline Rooryck. Description of a family with X-linked OAVS associated with polyalanine tract expansion in ZIC3. Clin Genet. 2020 Jul 8. DOI: 10.1111/cge.13811

Tingaud-Sequeira A, Trimouille A, Marlin S, Lopez E, Berenguer M, Gherbi S, Arveiler B, Lacombe D, Rooryck C. Functional and genetic analyses of ZYG11B provide evidences for its involvement in OAVS. Molecular Genetics & Genomic Medicine 2020 Oct;8(10):e1375. DOI: 10.1002/mgg3.1375

Matis T, Michaud V, Van-Gils J, Raclet V, Plaisant C, Fergelot P, Lasseaux E, Arveiler B, Trimouille A. Triple diagnosis of Wiedemann-Steiner, Waardenburg and DLG3-related intellectual disability association found by WES: A case report. J Gene Med. 2020 Aug;22(8):e3197. DOI: 10.1002/jgm.3197

Agathe JS, Van-Gils J, Lasseaux E, Arveiler B, Lacombe D, Pfirrmann C, Raclet V, Gaston L, Plaisant C, Aupy J, Trimouille A. Defining the TRPM3 related spectrum: Possible ocular and joints defects, and inconstant epilepsy. Eur J Med Genet. 2020 May 18:103942. doi: 10.1016/j.ejmg.2020.103942. Online ahead of print.

Trimouille A, Marguet F, Sauvestre F, Lasseaux E, Pelluard F, Martin-Négrier ML, Plaisant C, Rooryck C, Lacombe D, Arveiler B, Boespflug-Tanguy O, Naudion S, Laquerrière A. Foetal onset of EIF2B related disorder in two siblings: cerebellar hypoplasia with absent Bergmann glia and severe hypomyelination. Acta Neuropathol Commun. 2020 Apr 15; 8(1):48. DOI: 10.1186/s40478-020-00929-2

de Sainte Agathe JM, Van-Gils J, Lasseaux E, Arveiler B, Lacombe D, Pfirrmann C, Raclet V, Gaston L, Plaisant C, Aupy J, Trimouille A. Confirmation and Expansion of the Phenotype Associated with the Recurrent p.Val837Met Variant in TRPM3. Eur J Med Genet. 2020;63(8):103942. DOI: 10.1016/j.ejmg.2020.103942

Cassereau J, Chevrollier A, Codron P, Goizet C, Gueguen N, Verny C, Reynier P, Bonneau D, Lenaers G, Procaccio V. Oxidative stress contributes differentially to the pathophysiology of Charcot-Marie-Tooth disease type 2K. Exp Neurol. 2020 Jan;323:113069. DOI: 10.1016/j.expneurol.2019.113069

Réant P, Testet E, Reynaud A, Bourque C, Michaud M, Rooryck C, Goizet C, Lacombe D, de-Précigout V, Peyrou J, Cochet H, Lafitte S. Characterization of Fabry Disease cardiac involvement according to longitudinal strain, cardiometabolic exercise test, and T1 mapping. Int J Cardiovasc Imaging. 2020 Jul;36(7):1333-1342. DOI: 10.1007/s10554-020-01823-7

Masingue M, Dufour L, Lenglet T, Saleille L, Goizet C, Ayrignac X, Ory-Magne F, Barth M, Lamari F, Mandia D, Caillaud C, Nadjar Y. Natural History of Adult Patients with GM2 Gangliosidosis. Ann Neurol. 2020 Apr;87(4):609-617. DOI: 10.1002/ana.25689

Chevarin M, Duffourd Y, A Barnard R, Moutton S, Lecoquierre F, Daoud F, Kuentz P, Cabret C, Thevenon J, Gautier E, Callier P, St-Onge J, Jouan T, Lacombe D, Delrue MA, Goizet C, Morice-Picard F, Van-Gils J, Munnich A, Lyonnet S, Cormier-Daire V, Baujat G, Holder M, Petit F, Leheup B, Odent S, Jouk PS, Lopez G, Geneviève D, Collignon P, Martin-Coignard D, Jacquette A, Perrin L, Putoux A, Sarrazin E, Amarof K, Missotte I, Coubes C, Jagadeesh S, Lapi E, Demurger F, Goldenberg A, Doco-Fenzy M, Mignot C, Héron D, Jean-Marçais N, Masurel A, El Chehadeh S, Marle N, Huet F, Binquet C, Collod-Beroud G, Arnaud P, Hanna N, Boileau C, Jondeau G, Olaso R, Lechner D, Poe C, Assoum M, Carmignac V, Duplomb L, Tran Mau-Them F, Philippe C, Vitobello A, Bruel AL, Boland A, Deleuze JF, Thauvin-Robinet C, Rivière JB, O’Roak BJ, Faivre L. Excess of de novo variants in genes involved in chromatin remodelling in patients with marfanoid habitus and intellectual disability. J Med Genet. 2020 Jul;57(7):466-474. DOI: 10.1136/jmedgenet-2019-106425

Boussion S, Escande F, Jourdain AS, Smol T, Brunelle P, Duhamel C, Alembik Y, Attié-Bitach T, Baujat G, Bazin A, Bonnière M, Carassou P, Carles D, Devisme L, Goizet C, Goldenberg A, Grotto S, Guichet A, Jouk PS, Loeuillet L, Mechler C, Michot C, Pelluard F, Putoux A, Whalen S, Ghoumid J, Manouvrier-Hanu S, Petit F. TAR syndrome: Clinical and molecular characterization of a cohort of 26 patients and description of novel noncoding variants of RBM8A. Hum Mutat. 2020 Jul;41(7):1220-1225. DOI: 10.1002/humu.24021

Angelini C, Thibaud M, Aladjidi N, Bessou P, Cabasson S, Colson C, Espil-Taris C, Goizet C, Husson M, Morice-Picard F, De Sandre-Giovannoli A, Pédespan JM. Expanding the Spectrum of Neurological Manifestations in Cutis Laxa, Autosomal Recessive, Type IIIA. Neuropediatrics. 2020 Aug;51(4):245-250. DOI: 10.1055/s-0040-1701671

Nabais Sá MJ, Venselaar H, Wiel L, Trimouille A, Lasseaux E, Naudion S, Lacombe D, Piton A, Vincent-Delorme C, Zweier C, Reis A, Trollmann R, Ruiz A, Gabau E, Vetro A, Guerrini R, Bakhtiari S, Kruer MC, Amor DJ, Cooper MS, Bijlsma EK, Barakat TS, van Dooren MF, van Slegtenhorst M, Pfundt R, Gilissen C, Willemsen MA, de Vries BBA, de Brouwer APM, Koolen DA. De novo CLTC variants are associated with a variable phenotype from mild to severe intellectual disability, microcephaly, hypoplasia of the corpus callosum, and epilepsy. Genet Med. 2020 Apr;22(4):797-802. DOI: 10.1038/s41436-019-0703-y

Ruault V, Corsini C, Duflos C, Akouete S, Georgescu V, Abaji M, Alembick Y, Alix E, Amiel J, Amouroux C, Barat-Houari M, Baumann C, Bonnard A, Boursier G, Boute O, Burglen L, Busa T, Cordier MP, Cormier-Daire V, Delrue MA, Doray B, Faivre L, Fradin M, Gilbert-Dussardier B, Giuliano F, Goldenberg A, Gorokhova S, Héron D, Isidor B, Jacquemont ML, Jacquette A, Jeandel C, Lacombe D, Le Merrer M, Sang KHLQ, Lyonnet S, Manouvrier S, Michot C, Moncla A, Moutton S, Odent S, Pelet A, Philip N, Pinson L, Reversat J, Roume J, Sanchez E, Sanlaville D, Sarda P, Schaefer E, Till M, Touitou I, Toutain A, Willems M, Gatinois V, Geneviève D. Growth charts in Kabuki syndrome 1. Am J Med Genet A. 2020 Mar;182(3):446-453. DOI: 10.1002/ajmg.a.61462

Velly L, Gayat E, Jong A, Quintard H, Weiss E, Cuvillon P, Audibert G, Amour J, Beaussier M, Biais M, Bloc S, Bonnet MP, Bouzat P, Brezac G, Dahyot-Fizelier C, Dahmani S, de Queiroz M, Maria SD, Ecoffey C, Futier E, Geeraerts T, Jaber H, Heyer L, Hoteit R, Joannes-Boyau O, Kern D, Langeron O, Lasocki S, Launey Y, Saché FL, Lukaszewicz AC, Maurice-Szamburski A, Mayeur N, Michel F, Minville V, Mirek S, Montravers P, Morau E, Muller L, Muret J, Nouette-Gaulain K, Orban JC, Orliaguet G, Perrigault PF, Plantet F, Pottecher J, Quesnel C, Reubrecht V, Rozec B, Tavernier B, Veber B, Veyckmans F, Charbonneau H, Constant I, Frasca D, Fischer MO, Huraux C, Blet A, Garnier M. Guidelines: Anaesthesia in the context of COVID-19 pandemic. Anaesth Crit Care Pain Med. 2020 Jun;39(3):395-415. DOI: 10.1016/j.accpm.2020.05.012

Aref-Eshghi E, Kerkhof J, Pedro VP; Groupe DI France, Barat-Houari M, Ruiz-Pallares N, Andrau JC, Lacombe D, Van-Gils J, Fergelot P, Dubourg C, Cormier-Daire V, Rondeau S, Lecoquierre F, Saugier-Veber P, Nicolas G, Lesca G, Chatron N, Sanlaville D, Vitobello A, Faivre L, Thauvin-Robinet C, Laumonnier F, Raynaud M, Alders M, Mannens M, Henneman P, Hennekam RC, Velasco G, Francastel C, Ulveling D, Ciolfi A, Pizzi S, Tartaglia M, Heide S, Héron D, Mignot C, Keren B, Whalen S, Afenjar A, Bienvenu T, Campeau PM, Rousseau J, Levy MA, Brick L, Kozenko M, Balci TB, Siu VM, Stuart A, Kadour M, Masters J, Takano K, Kleefstra T, de Leeuw N, Field M, Shaw M, Gecz J, Ainsworth PJ, Lin H, Rodenhiser DI, Friez MJ, Tedder M, Lee JA, DuPont BR, Stevenson RE, Skinner SA, Schwartz CE, Genevieve D, Sadikovic B. Evaluation of DNA Methylation Episignatures for Diagnosis and Phenotype Correlations in 42 Mendelian Neurodevelopmental Disorders. Am J Hum Genet. 2020 Mar 5;106(3):356-370. doi: 10.1016/j.ajhg.2020.01.019.

Nambot S, Faivre L, Mirzaa G, Thevenon J, Bruel AL, Mosca-Boidron AL, Masurel-Paulet A, Goldenberg A, Le Meur N, Charollais A, Mignot C, Petit F, Rossi M, Metreau J, Layet V, Amram D, Boute-Bénéjean O, Bhoj E, Cousin MA, Kruisselbrink TM, Lanpher BC, Klee EW, Fiala E, Grange DK, Meschino WS, Hiatt SM, Cooper GM, Olivié H, Smith WE, Dumas M, Lehman A; CAUSES Study, Inglese C, Nizon M, Guerrini R, Vetro A, Kaplan ES, Miramar D, Van Gils J, Fergelot P, Bodamer O, Herkert JC, Pajusalu S, Õunap K, Filiano JJ, Smol T, Piton A, Gérard B, Chantot-Bastaraud S, Bienvenu T, Li D, Juusola J, Devriendt K, Bilan F, Poé C, Chevarin M, Jouan T, Tisserant E, Rivière JB, Tran Mau-Them F, Philippe C, Duffourd Y, Dobyns WB, Hevner R, Thauvin-Robinet C. De novo TBR1 variants cause a neurocognitive phenotype with ID and autistic traits: report of 25 new individuals and review of the literature. Eur J Hum Genet. 2020 Jun;28(6):770-782. DOI: 10.1038/s41431-020-0571-6

Michaud V, Fiore M, Coste V, Huguenin Y, Bordet JC, Plaisant C, Lasseaux E, Morice-Picard F, Arveiler B. Hereditary Mucoepithelial Dysplasia Results from Heterozygous Variants at p.Arg557 Mutational Hotspot in SREBF1, Encoding a Transcription Factor Involved in Cholesterol Homeostasis. J Invest Dermatol. 2020 Jun;140(6):1289-1292.e2. DOI: 10.1016/j.jid.2019.10.014

Prudhomme L, Delleci C, Trimouille A, Chateil JF, Prodhomme O, Goizet C, Van Gils J. Severe Thoracic and Spinal Bone Abnormalities in neurofibromatosis type 1. Eur J Med Genet. 2020 Apr;63(4):103815. DOI: 10.1016/j.ejmg.2019.103815

Bakis H, Trimouille A, Vermorel A, Redonnet I, Goizet C, Boulestreau R, Lacombe D, Combe C, Martin-Négrier ML, Rigothier C. Adult onset tubulo-interstitial nephropathy in MT-ND5-related phenotypes. Clin Genet. 2020 Apr;97(4):628-633. DOI: 10.1111/cge.13670

Audouze K, Sarigiannis D, Alonso-Magdalena P, Brochot C, Casas M, Vrijheid M, Babin PJ, Karakitsios S, Coumoul X, Barouki R. Integrative Strategy of Testing Systems for Identification of Endocrine Disruptors Inducing Metabolic Disorders-An Introduction to the OBERON Project. Int J Mol Sci. 2020 Apr 23; 21(8):2988. DOI: 10.3390/ijms21082988

Mauhin W, Benveniste O, Amelin D, Montagner C, Lamari F, Caillaud C, Douillard C, Dussol B, Leguy-Seguin V, D’Halluin P, Noel E, Zenone T, Matignon M, Maillot F, Ly KH, Besson G, Willems M, Labombarda F, Masseau A, Lavigne C, Lacombe D, Maillard H, Lidove O. Cornea verticillata and acroparesthesia efficiently discriminate clusters of severity in Fabry disease. PLoS One. 2020 May 22;15(5): e0233460. DOI: 10.1371/journal.pone.0233460

Zampieri LX, Grasso D, Bouzin C, Brusa D, Rossignol R, Sonveaux P. Mitochondria participate in chemoresistance to cisplatin in human ovarian cancer cells. Mol Cancer Res. 2020 Sep;18(9):1379-1391. DOI: 10.1158/1541-7786.MCR-19-1145

Juven A, Nambot S, Piton A, Jean-Marçais N, Masurel A, Callier P, Marle N, Mosca-Boidron AL, Kuentz P, Philippe C, Chevarin M, Duffourd Y, Gautier E, Munnich A, Rio M, Rondeau S, El Chehadeh S, Schaefer É, Gérard B, Bouquillon S, Delorme CV, Francannet C, Laffargue F, Gouas L, Isidor B, Vincent M, Blesson S, Giuliano F, Pichon O, Le Caignec C, Journel H, Perrin-Sabourin L, Fabre-Teste J, Martin D, Vieville G, Dieterich K, Lacombe D, Denommé-Pichon AS, Thauvin-Robinet C, Faivre L. Primrose syndrome: a phenotypic comparison of patients with a ZBTB20 missense variant versus a 3q13.31 microdeletion including ZBTB20. Eur J Hum Genet. 2020 Aug, 28(8):1044-1055. DOI: 10.1038/s41431-020-0582-3

Dard L, Blanchard W, Hubert C, Lacombe D, Rossignol R. Mitochondrial Functions and Rare Diseases. Mol Aspects Med. 2020 Feb;71:100842. DOI: 10.1016/j.mam.2019.100842

Sarlak S, Lalou C, Amoedo ND, Rossignol R. Metabolic reprogramming by tobacco-specific nitrosamines (TSNAs) in cancer. Semin Cell Dev Biol. Feb 2020, Vol. 98, 154-166. DOI: 10.1016/j.semcdb.2019.09.001

Morice-Picard F, Michaud V, Lasseaux E, Rezvani HR, Plaisant C, Bessis D, Leauté-Labrèze C, Arveiler B, Taieb A, Trimouille A, Boralevi F. Hereditary mucoepithelial dysplasia results from heterozygous variants at p.Arg557 mutational hotspot in SREBF1, encoding a transcription factor involved in cholesterol homeostasis. J Invest Dermatol. J Invest Dermatol 2020 Jun;140(6): 1289-1292.e2. DOI: 10.1016/j.jid.2019.10.014

de Courson H, Michard F, Chavignier C, Verchère E, Nouette-Gaulain K, Biais M. Do changes in perfusion index reflect changes in stroke volume during preload-modifying manoeuvres? J Clin Monit Comput. 2020 Dec;34(6):1193-1198. DOI: 10.1007/s10877-019-00445-2

Margot H, Boursier G, Duflos C, Sanchez E, Amiel J, Andrau JC, Arpin S, Brischoux-Boucher E, Boute O, Burglen L, Caille C, Capri Y, Collignon P, Conrad S, Cormier-Daire V, Delplancq G, Dieterich K, Dollfus H, Fradin M, Faivre L, Fernandes H, Francannet C, Gatinois V, Gerard M, Goldenberg A, Ghoumid J, Grotto S, Guerrot AM, Guichet A, Isidor B, Jacquemont ML, Julia S, Khau Van Kien P, Legendre M, Le Quan Sang KH, Leheup B, Lyonnet S, Magry V, Manouvrier S, Martin D, Morel G, Munnich A, Naudion S, Odent S, Perrin L, Petit F, Philip N, Rio M, Robbe J, Rossi M, Sarrazin E, Toutain A, Van Gils J, Vera G, Verloes A, Weber S, Whalen S, Sanlaville D, Lacombe D, Aladjidi N, Geneviève D. Immunopathological manifestations in Kabuki syndrome: a registry study of 177 individuals. Genet Med. 2020 Jan;22(1):181-188. DOI: 10.1038/s41436-019-0623-x

Morice-Picard F, Letertre O, Lasseaux E, Cario-Andre M, Arveiler B, Taieb A. Lentiginosis and café-au-lait macules as part of the phenotypic spectrum of PAX3-related disorders. Clin Exp Dermatol. 2020 Jul;45(5):621-623. DOI: 10.1111/ced.14203

Le Dorze M, Kandelman S, Veber B; SFAR Ethics Committee. Deep continuous sedation maintained until death, in French Intensive Care Units. Anaesth Crit Care Pain Med. 2020 Feb;39(1):115-116. DOI: 10.1016/j.accpm.2019.07.008

Godier A, Nouette-Gaulain K, Cittanova ML, Beloeil H, Paugam-Burtz C, Lukaszewicz AC. Women in Anaesthesia and Intensive Care Medicine in France: Are we making any progress? Anaesth Crit Care Pain Med. 2020 Aug;39(4):507-511. DOI: 10.1016/j.accpm.2020.04.019

Robin F, De Courson H, Roy M, Lemeux J, Philip P, Bioulac S, Nouette-Gaulain K. EQSAR: A national survey of sleep duration among French Anaesthesiologists and Intensivists. Anaesth Crit Care Pain Med. 2020 Dec;39(6):759-764. DOI: 10.1016/j.accpm.2020.04.020

Dépret F, Farny B, Jeanne M, Klouche K, Leclerc T, Nouette-Gaulain K, Pantet O, Rémerand F, Roquilly A, Rousseau AF, Sztajnic S, Wiramus S, Vicaut E, Legrand M; A2B trial investigators. The A2B trial, antibiotic prophylaxis for excision-graft surgery in burn patients: a multicenter randomized double-blind study. Trials. 2020 Nov 25;21(1):973. DOI: 10.1186/s13063-020-04894-y

Pauchard JC, Gress G, Biais M, Beloeil H, Nouette-Gaulain K. Reducing the greenhouse gas emissions from halogenated agents in daily clinical practice: An audit at the University Hospital of Bordeaux. Anaesth Crit Care Pain Med. 2020 Oct;39(5):685-687. DOI: 10.1016/j.accpm.2020.08.005

de Courson H, Chauvet J, Le Gall L, Georges D, Boyer P, Verchère E, Nouette-Gaulain K, Biais M. Utility of changes in end-tidal carbon dioxide after volume expansion to assess fluid responsiveness in the operating room: a prospective observational study. Br J Anaesth. 2020 Nov;125(5):672-679. DOI: 10.1016/j.bja.2020.07.018

Beauvieux MC, Bérard AM, Aimone-Gastin I, Barbé F, Barguil Y, Collin-Chavagnac D, Delacour H, Delevallée C, Nivet-Antoine V, Peoc’h K, Poupon C, Schmitt F, Piéroni L, Sapin V; Membres du Groupe de travail SFBC « Marqueurs biochimiques de COVID-19 »; Sous-groupe Privés; Sous-groupe Outre-Mer (OM)/francophonie; Sous-groupe CH; Sous-groupe Hôpitaux d’instruction des armées (HIA); Sous-groupe CHU Nord-Est; Sous-groupe CHU Ouest; Sous-groupe CHU Assistance publique-Hôpitaux de Paris (AP-HP); Sous-groupe CHU Sud; Sous-groupe CHU Auvergne Rhône-Alpes-Bourgogne Franche-Comté (ARA-BFC). Groupe de travail SFBC « Marqueurs biochimiques de COVID-19 » [SFBC working group “Biochemical markers of COVID-19”]. Ann Biol Clin (Paris). 2020 Jun 1;78(3):269-277. French. DOI: 10.1684/abc.2020.1563

2019

Trimouille A, Tingaud-Sequeira A, Pennamen P, André G, Bouron J, Boucher C, Fergelot P, Lacombe D, Arveiler B, Rooryck C. Deletion in 2q35 excluding the IHH gene leads to fetal severe limb anomalies and suggests a disruption of chromatin Architecture. Eur J Hum Genet. 2019 Mar;27(3):384-388. DOI: 10.1038/s41431-018-0290-4

Angelini C, Van Gils J, Bigourdan A, Jouk PS, Lacombe D, Menegon P, Moutton S, Riant F, Sole G, Tournier-Lasserve E, Trimouille A, Vincent M, Goizet C. Major intra-familial phenotypic heterogeneity and incomplete penetrance due to a CACNA1A pathogenic variant. Eur J Med Genet 2019 Jun;62 (6),103530. DOI: 10.1016/j.ejmg.2018.08.011

Michaud V, Defoort-Dhellemmes S, Drumare I, Pennamen P, Plaisant C, Lasseaux E, Arveiler B. Clinical and molecular findings of FRMD7 related congenital nystagmus as a differential diagnosis of ocular albinism. Ophthalmic Genet. 2019 Apr;40(2):161-164. DOI: 10.1080/13816810.2019.1592201

Monfermé S, Lasseaux E, Duncombe-Poulet C, Hamel C, Defoort-Dhellemmes S, Drumare I, Zanlonghi X, Dollfus H, Perdomo Y, Bonneau D, Korobelnik JF, Plaisant C, Michaud V, Pennamen P, Rooryck-Thambo C, Morice-Picard F, Paya C, Arveiler B. Mild form of oculocutaneous albinism type 1: phenotypic analysis of compound heterozygous patients with the R402Q variant of the TYR gene. Br J Ophthalmol. 2019 Sep;103(9):1239-1247. DOI: 10.1136/bjophthalmol-2018-312729

Ndiaye R, Dia Y, Lasseaux E, Mbaye S, Plaisant C, Diop JPD, Ba SA, Mbengue B, Ly F, Arveiler B, Dieye A. A Novel Non-Sense Mutation in a Senegalese Patient with Hermansky-Pudlak Type 1 Syndrome. J Mol Genet Med 2019, 13: 415.

Van-Gils J, Naudion S, Toutain J, Lancelot G, Attié-Bitach T, Blesson S, Demeer B, Doray B, Gonzales M, Martinovic J, Whalen S, Taine L, Arveiler B, Lacombe D, Fergelot P. Fetal phenotype of Rubinstein-Taybi syndrome caused by CREBBP mutations. Clin Genet. 2019 Mar;95(3):420-426. DOI: 10.1111/cge.13493

El Khattabi LA, Brun S, Gueguen P, Chatron N, Guichoux E, Schutz S, Nectoux J, Sorlin A, Quere M, Boudjarane J, Tsatsaris V, Mandelbrot L, Schluth-Bolard C, Dupont JM, Rooryck C. Performance of semiconductor sequencing platform for non-invasive prenatal genetic screening for fetal aneuploidy: results from a multicenter prospective cohort study in a clinical setting. Ultrasound Obstet Gynecol. 2019 Aug;54(2):246-254. DOI: 10.1002/uog.20112

Deiller C, Van-Gils J, Zordan C, Tinat J, Loiseau H, Fabre T, Delleci C, Cohen J, Vidaud M, Parfait B, Goizet C. Coexistence of schwannomatosis and glioblastoma in two families. Eur J Med Genet. 2019 Aug;62(8):103680. DOI: 10.1016/j.ejmg.2019.103680

Zordan C, Monteil L, Haquet E, Cordier C, Toussaint E, Roche P, Dorian V, Maillard A, Lhomme E, Richert L, Pasquier L, Akloul L, Taris N, Lacombe D. Evaluation of the template letter regarding the disclosure of genetic information within the family in France. J Community Genet. 2019 Mar 27:10(4):489-499. DOI: 10.1007/s12687-019-00418-7

Papaxanthos-Roche A, Maillard A, Chansel-Debordeaux L, Albert M, Patrat C, Lidove O, Germain DP, Perez P, Lacombe D. Semen and male genital tract characteristics of patients with Fabry disease: the FERTIFABRY multicentre observational study. Basic Clin Androl. 2019 May 15; 29:7. DOI: 10.1186/s12610-019-0088-4

Germain DP, Fouilhoux A, Decramer S, Tardieu M, Pillet P, Fila M, Rivera S, Deschênes G, Lacombe D. Consensus recommendations for diagnosis, management and treatment of Fabry disease in paediatric patients. Clin Genet. 2019 Aug;96(2):107-117. DOI: 10.1111/cge.13546

Aubrun F, Nouette-Gaulain K, Fletcher D, Belbachir A, Beloeil H, Carles M, Cuvillon P, Dadure C, Lebuffe G, Marret E, Martinez V, Olivier M, Sabourdin N, Zetlaoui P. Revision of expert panel’s guidelines on postoperative pain management. Anaesth Crit Care Pain Med. 2019 Aug;38(4):405-411. DOI: 10.1016/j.accpm.2019.02.011

de Courson H, Ferrer L, Cane G, Verchère E, Sesay M, Nouette-Gaulain K, Biais M. Evaluation of least significant changes of pulse contour analysis-derived parameters. Ann Intensive Care. 2019 Oct 11; 9(1):116. DOI: 10.1186/s13613-019-0590-z

Zinan Zhang*, Florian Gothe*, Perrine Pennamen*, John James, David McDonald, Carlos Mata, Yorgo Modis, Anas Alazami, Meghan Acres, Wolfram Haller, Claire Bowen, Rainer Döffinger, Jan Sinclair, Shannon Brothers, Yu Zhang, Helen Matthews, Sophie Naudion, Fanny Pelluard, Huda Alajlan, Yasuhiro Yamazaki, Luigi Notarangelo, James Thaventhiran, Karin Engelhardt, Hamoud Al-Mousa, Sophie Hambleton, Caroline Rooryck*, Kenneth Smith*, and Michael Lenardo*. *co-premiers auteurs et co-derniers auteurs. Human interleukin-2 receptor beta mutations associated with defects in immunity and peripheral tolerance. J Exp Med. 2019 Jun 3;216(6):1311-1327. PMID: 31040185

Gentric G, Kieffer Y, Mieulet V, Goundiam O, Bonneau C, Nemati F, Hurbain I, Raposo G, Popova T, Stern MH, Lallemand-Breitenbach V, Müller S, Cañeque T, Rodriguez R, Vincent-Salomon A, de Thé H, Rossignol R, Mechta-Grigoriou F. PML-Regulated Mitochondrial Metabolism Enhances Chemosensitivity in Human Ovarian Cancers.Cell Metab. 2019 Jan 8;29(1):156-173.e10. DOI: 10.1016/j.cmet.2018.09.002

Raynal C, Girodon E, Audrezet MP, Cabet F, Pagin A, Reboul MP, Dufernez F, Fergelot P, Bergougnoux A, Fanen P, Ferec C, Bienvenu T. CFTR gene variants: a predisposition factor to aquagenic palmoplantar keratoderma. Br J Dermatol. 2019 Nov;181(5):1097-1099. DOI: 10.1111/bjd.18162

Valence S, Cochet E, Rougeot C, Garel C, Chantot-Bastaraud S, Lainey E, Afenjar A, Barthez MA, Bednarek N, Doummar D, Faivre L, Goizet C, Haye D, Heron B, Kemlin I, Lacombe D, Milh M, Moutard ML, Riant F, Robin S, Roubertie A, Sarda P, Toutain A, Villard L, Ville D, Billette de Villemeur T, Rodriguez D, Burglen L. Exome sequencing in congenital ataxia identifies two new candidate genes and highlights a pathophysiological link between some congenital ataxias and early infantile epileptic encephalopathies.Genet Med. 2019 Mar;21(3):553-563. DOI: 10.1038/s41436-018-0089-2

Donada A, Balayn N, Sliwa D, Lordier L, Ceglia V, Baschieri F, Goizet C, Favier R, Tosca L, Tachdjian G, Denis CV, Plo I, Vainchenker W, Debili N, Rosa JP, Bryckaert M, Raslova H. Increased RhoA activity due to a disrupted filamin A/?IIb?3 interaction induces macrothrombocytopenia. Blood. 2019 Apr 18;133(16):1778-1788. DOI: 10.1182/blood-2018-07-861427

Oosterloo M, Bijlsma EK, van Kuijk SM, Minkels F, de Die-Smulders CE; REGISTRY Investigators of the European Huntington’s Disease Network Goizet C); Registry Steering committee; Language coordinators; EHDN’s associate site in Singapore. Clinical and genetic characteristics of late-onset Huntington’s disease. Parkinsonism Relat. Disord.April 2019, 61 :101-105. DOI: 10.1016/j.parkreldis.2018.11.009

López-Sánchez U, Nicolas G, Richard AC, Maltête D, Charif M, Ayrignac X, Goizet C, Touhami J, Labesse G, Battini JL, Sitbon M. Characterization of XPR1/SLC53A1 variants located outside of the SPX domain in patients with primary familial brain calcification. Sci Rep. 2019 May 1;9(1):6776. DOI: 10.1038/s41598-019-43255-x

Tulli S, Del Bondio A, Baderna V, Mazza D, Codazzi F, Pierson TM, Ambrosi A, Nolte D, Goizet C, Toro C, Baets J, Deconinck T, DeJonghe P, Mandich P, Casari G, Maltecca F. Pathogenic variants in the AFG3L2 proteolytic domain cause SCA28 through haploinsufficiency and proteostatic stress-driven OMA1 activation. J Med Genet. 2019 Aug;56(8):499-511. DOI: 10.1136/jmedgenet-2018-105766

Peretti A, Perie M, Vincent D, Bouhour F, Dieterich K, Mallaret M, Duval F, Goizet C, Juntas-Morales R, Magy L, Solé G, Nollet S, Not A, Léonard-Louis S, Francou B, Leguern E, Lia AS, Magdelaine C, Latour P, Stojkovic T. LRSAM1 variants and founder effect in French families with ataxic form of Charcot-Marie-Tooth type 2. Eur J Hum Genet. 2019 Sep;27(9):1406-1418. DOI: 10.1038/s41431-019-0403-8

Lerat J, Magdelaine C, Roux AF, Darnaud L, Beauvais-Dzugan H, Naud S, Richard L, Derouault P, Ghorab K, Magy L, Vallat JM, Cintas P, Bieth E, Arne-Bes MC, Goizet C, Espil-Taris C, Journel H, Toutain A, Urtizberea JA, Boespflug-Tanguy O, Laffargue F, Corcia P, Pasquier L, Fradin M, Napuri S, Ciron J, Boulesteix JM, Sturtz F, Lia AS. Hearing loss in inherited peripheral neuropathies: Molecular diagnosis by NGS in a French series. Mol Genet Genomic Med. 2019 Sep;7(9): e839. DOI: 10.1002/mgg3.839

Lerat J, Magdelaine C, Lunati A, Dzugan H, Dejoie C, Rego M, Beze Beyrie P, Bieth E, Calvas P, Cintas P, Delaubrier A, Demurger F, Gilbert-Dussardier B, Goizet C, Journel H, Laffargue F, Magy L, Taithe F, Toutain A, Urtizberea JA, Sturtz F, Lia AS. Implication of the SH3TC2 gene in Charcot-Marie-Tooth disease associated with deafness and/or scoliosis: Illustration with four new pathogenic variants. J Neurol Sci. 2019 Nov 15; 406:116376. DOI: 10.1016/j.jns.2019.06.027

Bessis D, Morice-Picard F, Bourrat E, Abadie C, Aouinti S, Baumann C, Best M, Bursztejn AC, Capri Y, Chiaverini C, Coubes C, Giuliano F, Hadj-Rabia S, Jacquemont ML, Lacombe D, Lyonnet S, Mallet S, Mazereeuw-Hautier J, Miquel J, Molinari N, Parfait B, Pernet C, Philip N, Pinson L, Pouvreau N, Vial Y, Sarda P, Sigaudy S, Verloes A, Cavé H, Geneviève D. Dermatological manifestations in cardiofaciocutaneous syndrome: a prospective multicentric study of 45 mutation-positive patients. Br J Dermatol. 2019 Jan;180(1):172-180. DOI: 10.1111/bjd.17077

Arnaud P, Hanna N, Benarroch L, Aubart M, Bal L, Bouvagnet P, Busa T, Dulac Y, Dupuis-Girod S, Edouard T, Faivre L, Gouya L, Lacombe D, Langeois M, Leheup B, Milleron O, Naudion S, Odent S, Tchitchinadze M, Ropers J, Jondeau G, Boileau C. Genetic diversity and pathogenic variants as possible predictors of severity in a French sample of nonsyndromic heritable thoracic aortic aneurysms and dissections (nshTAAD). Genet Med. 2019 Feb 11,21(9):2015-2024. DOI: 10.1038/s41436-019-0444-y

Scappaticci C, Van-Gils J, Samaan S, Bessou P, Lacombe D, Chateil JF, Pedespan JM, Saves JL, Boespflug-Tanguy O, Goizet C. Confirmation of Atypical Presentation With Nonprogressive Leukodystrophy in eIF2B-Related Disorders. Pediatr Neurol.Nov2019, Vol. 100, p97-99. DOI: 10.1016/j.pediatrneurol.2019.02.005

Noël E, Dussol B, Lacombe D, Bedreddine N, Fouilhoux A, Ronco P, Genevaz D, Bekri S, Hagège A, Dupuis-Siméon F, Derrien Ansquer V, Germain DP, Lidove O. Treatment needs and expectations for Fabry disease in France: development of a new Patient Needs Questionnaire. Orphanet J Rare Dis. 2019 Dec 4;14(1):284. DOI: 10.1186/s13023-019-1254-7

Roullet S, Labrouche S, Chiche L, Nouette-Gaulain K, Laurent C, Freyburger G. The Thrombodynamics® analyzer: A new thrombin generation analyzer compared to the Calibrated Automated Thrombogram® in liver transplantation. Thromb Res. 2019 Mar;175: 37-39. DOI: 10.1016/j.thromres.2019.01.015

de Courson H, Boyer P, Grobost R, Lanchon R, Sesay M, Nouette-Gaulain K, Futier E, Biais M. Changes in dynamic arterial elastance induced by volume expansion and vasopressor in the operating room: a prospective bicentre study. Ann Intensive Care. 2019 Oct 11;9(1):117. DOI: 10.1186/s13613-019-0588-6

Carrié C, Chadefaux G, Sauvage N, de Courson H, Petit L, Nouette-Gaulain K, Pereira B, Biais M. Increased ?-Lactams dosing regimens improve clinical outcome in critically ill patients with augmented renal clearance treated for a first episode of hospital or ventilator-acquired pneumonia: a before and after study. Crit Care. 2019 Nov 27;23(1):379. DOI: 10.1186/s13054-019-2621-4

Dadure C, Sabourdin N, Veyckemans F, Babre F, Bourdaud N, Dahmani S, Queiroz M, Devys JM, Dubois MC, Kern D, Laffargue A, Laffon M, Lejus-Bourdeau C, Nouette-Gaulain K, Orliaguet G, Gayat E, Velly L, Salvi N, Sola C. Management of the child’s airway under anaesthesia: The French guidelines. Anaesth Crit Care Pain Med. 2019 Dec;38(6):681-693. DOI: 10.1016/j.accpm.2019.02.004

Cárdenas-de-la-Parra A, Martin-Brevet S, Moreau C, Rodriguez-Herreros B, Fonov VS, Maillard AM, Zürcher NR; 16p11.2 European Consortium dont Arveiler B, Hadjikhani N, Beckmann JS, Reymond A, Draganski B, Jacquemont S, Collins DL. Developmental Trajectories of Neuroanatomical Alterations Associated With the 16p11.2 Copy Number Variations. Neuroimage. 2019 Dec; 203:116155. doi: 10.1016/j.neuroimage.2019.116155. DOI: 10.1016/j.neuroimage.2019.116155

Mary L, Chennen K, Stoetzel C, Antin M, Leuvrey AS, Nourisson E, Alanio-Detton E, Antal MC, Attie-Bitach T, Bouvagnet P, Bouvier R, Buenerd A, Clémenson A, Devisme L, Gasser B, Gilbert-Dussardier B, Guimiot F, Khau Van Kien P, Leroy B, Loget P, Martinovic J, Pelluard F, Perez MJ, Petit F, Pinson L, Rooryck C, Poch O, Dollfus H, Schaefer E, Muller J. Bardet-Biedl syndrome – antenatal presentation of 45 fetuses with biallelic pathogenic variants in known BBS genes. Clin Genet. March 2019, Vol. 95 Issue 3, p 384-397. DOI: 10.1111/cge.13500

Cullot G, Boutin J, Toutain J, Prat F, Pennamen P, Rooryck C, Teichmann M, Rousseau E, Lamrissi-Garcia I, Guyonnet-Duperat V, Bibeyran A, Lalanne M, Prouzet-Mauléon V, Turcq B, Ged C, Blouin JM, Richard E, Dabernat S, Moreau-Gaudry F, Bedel A. CRISPR-Cas9 genome editing induces megabase-scale chromosomal truncations. Nat Commun. 2019 Mar 8;10(1):1136. DOI: 10.1038/s41467-019-09006-2

Clemens DJ, Tester DJ, Giudicessi JR, Bos JM, Rohatgi RK, Abrams DJ, Balaji S, Crotti L, Faure J, Napolitano C, Priori SG, Probst V, Rooryck-Thambo C, Roux-Buisson N, Sacher F, Schwartz PJ, Silka MJ, Walsh MA, Ackerman MJ. International Triadin Knockout Syndrome Registry: The Clinical Phenotype and Treatment Outcomes of Patients with Triadin Knockout Syndrome. Circ Genom Precis Med. 2019 Feb;12(2). DOI: 10.1161/CIRCGEN.118.002419

Hureaux M, Guterman S, Hervé B, Till M, Jaillard S, Redon S, Valduga M, Coutton C, Missirian C, Prieur F, Simon-Bouy B, Beneteau C, Kuentz P, Rooryck C, Gruchy N, Marle N, Plutino M, Tosca L, Dupont C, Puechberty J, Schluth-Bolard C, Salomon L, Sanlaville D, Malan V, Vialard F. Chromosomal microarray analysis in fetuses with an isolated congenital heart defect: a retrospective, nationwide, multicenter study in France. Prenat Diagn. 2019 May; Vol. 39 (6), pp. 464-470. DOI: 10.1002/pd.5449

Schluth-Bolard C, Diguet F, Chatron N, Rollat-Farnier PA, Bardel C, Afenjar A, Amblard F, Amiel J, Blesson S, Callier P, Capri Y, Collignon P, Cordier MP, Coubes C, Demeer B, Chaussenot A, Demurger F, Devillard F, Doco-Fenzy M, Dupont C, Dupont JM, Dupuis-Girod S, Faivre L, Gilbert-Dussardier B, Guerrot AM, Houlier M, Isidor B, Jaillard S, Joly-Hélas G, Kremer V, Lacombe D, Le Caignec C, Lebbar A, Lebrun M, Lesca G, Lespinasse J, Levy J, Malan V, Mathieu-Dramard M, Masson J, Masurel-Paulet A, Mignot C, Missirian C, Morice-Picard F, Moutton S, Nadeau G, Pebrel-Richard C, Odent S, Paquis-Flucklinger V, Pasquier L, Philip N, Plutino M, Pons L, Portnoï MF, Prieur F, Puechberty J, Putoux A, Rio M, Rooryck-Thambo C, Rossi M, Sarret C, Satre V, Siffroi JP, Till M, Touraine R, Toutain A, Toutain J, Valence S, Verloes A, Whalen S, Edery P, Tabet AC, Sanlaville D. Whole genome paired-end sequencing elucidates functional and phenotypic consequences of balanced chromosomal rearrangement in patients with developmental disorders. J Med Genet. 2019 Aug;56(8):526-535. DOI: 10.1136/jmedgenet-2018-105778

Hureaux M, Guterman S, Hervé B, Till M, Jaillard S, Redon S, Valduga M, Coutton C, Missirian C, Prieur F, Simon-Bouy B, Beneteau C, Kuentz P, Rooryck C, Gruchy N, Marle N, Plutino M, Tosca L, Dupont C, Puechberty J, Schluth-Bolard C, Salomon L, Sanlaville D, Malan V, Vialard F. Chromosomal microarray analysis in fetuses with an isolated congenital heart defect: A retrospective, nationwide, multicenter study in France. Prenat Diagn. 2019 May;39(6):464-470. DOI: 10.1002/pd.5449

Nguyen K, Roche S, Donal E, Odent S, Eicher JC, Faivre L, Millat G, Salgado D, Desvignes JP, Lavoute C, Haentjens J, Consolino É, Janin A, Cerino M, Réant P, Rooryck C, Charron P, Richard P, Casalta AC, Michel N, Magdinier F, Béroud C, Lévy N, Habib G. Whole Exome Sequencing Reveals a Large Genetic Heterogeneity and Revisits the Causes of Hypertrophic Cardiomyopathy. Circ Genom Precis Med. 2019 May;12(5): e002500. DOI: 10.1161/CIRCGEN.119.002500

Tabet AC, Rolland T, Ducloy M, Lévy J, Buratti J, Mathieu A, Haye D, Perrin L, Dupont C, Passemard S, Capri Y, Verloes A, Drunat S, Keren B, Mignot C, Marey I, Jacquette A, Whalen S, Pipiras E, Benzacken B, Chantot-Bastaraud S, Afenjar A, Héron D, Le Caignec C, Beneteau C, Pichon O, Isidor B, David A, El Khattabi L, Kemeny S, Gouas L, Vago P, Mosca-Boidron AL, Faivre L, Missirian C, Philip N, Sanlaville D, Edery P, Satre V, Coutton C, Devillard F, Dieterich K, Vuillaume ML, Rooryck C, Lacombe D, Pinson L, Gatinois V, Puechberty J, Chiesa J, Lespinasse J, Dubourg C, Quelin C, Fradin M, Journel H, Toutain A, Martin D, Benmansour A, Leblond CS, Toro R, Amsellem F, Delorme R, Bourgeron T. Erratum: Author Correction: A framework to identify contributing genes in patients with Phelan-McDermid syndrome.NPJ Genom Med. 2019 Jul 1;4:16. PMID: 31285849

van der Sluijs PJ, Jansen S, Vergano SA, Adachi-Fukuda M, Alanay Y, AlKindy A, Baban A, Bayat A, Beck-Wödl S, Berry K, Bijlsma EK, Bok LA, Brouwer AFJ, van der Burgt I, Campeau PM, Canham N, Chrzanowska K, Chu YWY, Chung BHY, Dahan K, De Rademaeker M, Destree A, Dudding-Byth T, Earl R, Elcioglu N, Elias ER, Fagerberg C, Gardham A, Gener B, Gerkes EH, Grasshoff U, van Haeringen A, Heitink KR, Herkert JC, den Hollander NS, Horn D, Hunt D, Kant SG, Kato M, Kayserili H, Kersseboom R, Kilic E, Krajewska-Walasek M, Lammers K, Laulund LW, Lederer D, Lees M, López-González V, Maas S, Mancini GMS, Marcelis C, Martinez F, Maystadt I, McGuire M, McKee S, Mehta S, Metcalfe K, Milunsky J, Mizuno S, Moeschler JB, Netzer C, Ockeloen CW, Oehl-Jaschkowitz B, Okamoto N, Olminkhof SNM, Orellana C, Pasquier L, Pottinger C, Riehmer V, Robertson SP, Roifman M, Rooryck C, Ropers FG, Rosello M, Ruivenkamp CAL, Sagiroglu MS, Sallevelt SCEH, Calvo AS, Simsek-Kiper PO, Soares G, Solaeche L, Sonmez FM, Splitt M, Steenbeek D, Stegmann APA, Stumpel CTRM, Tanabe S, Uctepe E, Utine GE, Veenstra-Knol HE, Venkateswaran S, Vilain C, Vincent-Delorme C, Vulto-van Silfhout AT, Wheeler P, Wilson GN, Wilson LC, Wollnik B, Kosho T, Wieczorek D, Eichler E, Pfundt R, de Vries BBA, Clayton-Smith J, Santen GWE.Correction: The ARID1B spectrum in 143 patients: from nonsyndromic intellectual disability to Coffin-Siris syndrome. Genet Med. 2019 Sep;21(9):2160-2161. PMID: 30696996

Vlaski-Lafarge M, Loncaric D, Perez L, Labat V, Debeissat C, Brunet de la Grange P, Rossignol R, Ivanovic Z, Bœuf H. Bioenergetic Changes Underline Plasticity of Murine Embryonic Stem Cells.Stem Cells. 2019 Apr;37(4):463-475. DOI: 10.1002/stem.2965

Roullet S, Labrouche S, Mouton C, Quinart A, Nouette-Gaulain K, Laurent C, Freyburger G. Lysis Timer: a new sensitive tool to diagnose hyperfibrinolysis in liver transplantation. J Clin Pathol. 2019 Jan;72(1):58-65. DOI: 10.1136/jclinpath-2018-205280

Hosseini M, Dousset L, Michon P, Mahfouf W, Muzotte E, Bergeron V, Bortolotto D, Rossignol R, Moisan F, Taieb A, Bouzier-Sore AK, Rezvani HR. UVB-induced DHODH upregulation, which is driven by STAT3, is a promising target for chemoprevention and combination therapy of photocarcinogenesis. Oncogenesis. 2019 Sep 24;8(10):52. DOI: 10.1038/s41389-019-0161-z

Garaude J. Reprogramming of mitochondrial metabolism by innate immunity. Current Opinion in Immunlogy, Volume 56, February 2019, 17-23. DOI: 10.1016/j.coi.2018.09.010

Mathis S, Goizet C, Soulages A, Vallat JM, Masson GL. Genetics of amyotrophic lateral sclerosis: A review. J Neurol Sci. 2019 Apr. DOI: 10.1016/j.jns.2019.02.030

Bonnemason-Carrere P, Morice-Picard F, Pennamen P, Arveiler B, Fergelot P, Goizet C, Hellegouarch M, Lacombe D, Plaisant C, Raclet V, Rooryck C, Lasseaux E, Trimouille A. PADDAS syndrome associated with hair dysplasia caused by a de novo missense variant of PUM1. Am J Med Genet A. 2019 Jun;179(6):1030-1033. DOI: 10.1002/ajmg.a.61127

Molliex S, Passot S, Morel J, Futier E, Lefrant JY, Constantin JM, Le Manach Y, Pereira B; Opti-Aged group, Azurea clinical research Network. A multicentre observational study on management of general anaesthesia in elderly patients at high-risk of postoperative adverse outcomes. Anaesth Crit Care Pain Med. 2019 Feb;38(1):15-23. DOI: 10.1016/j.accpm.2018.05.012

Carrié C, Chadefaux G, Sauvage N, de Courson H, Petit L, Nouette-Gaulain K, Pereira B, Biais M. Increased β-Lactams dosing regimens improve clinical outcome in critically ill patients with augmented renal clearance treated for a first episode of hospital or ventilator-acquired pneumonia: a before and after study. Crit Care. 2019 Nov 27;23(1):379. DOI: 10.1186/s13054-019-2621-4

2018

Petre J, Lasseaux E, Ged C, Arveiler B, Taïeb A, Morice-Picard F. ADAR1 splicing mutation leading to dyschromatosis hereditaria in a Caucasian patient. J Eur Acad Dermatol Venereol. 2018 Feb;32(2):e79-e80. https://doi.org/10.1111/jdv.14530

Marti A, Lasseaux E, Ezzedine K, Léauté-Labrèze C, Boralevi F, Paya C, Coste V, Deroissart V, Arveiler B, Taieb A, Morice-Picard F. Lessons of a day hospital: Comprehensive assessment of patients with albinism in a European setting. Pigment Cell Melanoma Res. 2018 Mar;31(2):318-329. https://doi.org/10.1111/pcmr.12651

Arveiler B. Genomics in service delivery in France. Med Sci (Paris). 2018 May;34 Hors série n°1:41-42. https://doi.org/10.1051/medsci/201834s122

Lalou C. and Bellance N. Regulation of Mitochondrial Energy Metabolism. eLS. 2018 April 27. https://doi.org/10.1002/9780470015902

Dard L, Bellance N, Lacombe D, Rossignol R. RAS signalling in energy metabolism and rare human diseases. Biochim Biophys Acta Bioenerg. 2018 Sep; 1859(9):845-867. https://doi.org/10.1016/j.bbabio.2018.05.003

Lavie J, De Belvalet H, Sonon S, Ion AM, Dumon E, Melser S, Lacombe D, Dupuy JW, Lalou C, Bénard G. Ubiquitin-Dependent Degradation of Mitochondrial Proteins Regulates Energy Metabolism. Cell Rep. 2018 Jun 5;23(10):2852-2863. https://doi.org/10.1016/j.celrep.2018.05.013

Durand CM, Dhers L, Tesson C, Tessa A, Fouillen L, Jacqueré S, Raymond L, Coupry I, Bénard G, Darios F, El-Hachimi KH, Astrea G, Rivier F, Banneau G, Pujol C, Lacombe D, Durr A, Babin PJ, Santorelli FM, Pietrancosta N, Boucher JL, Mansuy D, Stevanin G, Goizet CYP2U1 activity is altered by missense mutations in hereditary spastic paraplegia 56. C. Hum Mutat. 2018 Jan;39(1):140-151. https://doi.org/10.1002/humu.23359

Trimouille A, Houcinat N, Vuillaume ML, Fergelot P, Boucher C, Toutain J, Caignec CL, Vincent M, Nizon M, Andrieux J, Vanlerberghe C, Delobel B, Duban B, Mansour S, Baple E, McKeown C, Poke G, Robertshaw K, Fifield E, Fabretto A, Pecile V, Gasparini P, Carrozzi M, Lacombe D, Arveiler B, Rooryck C, Moutton S. 19p13 microduplications encompassing NFIX are responsible for intellectual disability, short stature and small head circumference. Eur J Hum Genet. 2018 Jan;26(1):85-93. https://doi.org/10.1038/s41431-017-0037-7

Trimouille A, Tingaud-Sequeira A, Pennamen P, André G, Bouron J, Boucher C, Fergelot P, Lacombe D, Arveiler B, Rooryck C. Deletion in 2q35 excluding the IHH gene leads to fetal severe limb anomalies and suggests a disruption of chromatin architecture. Eur J Hum Genet. 2018 Oct 29. https://doi.org/10.1038/s41431-018-0290-4

Benmoussa, K., Garaude J. and Acín-Pérez, R. How mitochondrial metabolism contributes to macrophage functions. Journal of Molecular Biology,2018. https://doi.org/10.1016/j.jmb.2018.07.003

Garaude J. Reprogramming of mitochondrial metabolism by innate immunity. Current Opinion in Immunoogyl,2018. https://doi.org/10.1016/j.coi.2018.09.010

Khan AUH, Allende-Vega N, Gitenay D, Garaude J, Vo DN, Belkhala S, Gerbal-Chaloin S, Gondeau C, Daujat-Chavanieu M, Delettre C, Orecchioni S, Talarico G, Bertolini F, Anel A, Cuezva JM, Enriquez JA, Cartron G, Lecellier CH, Hernandez J, Villalba M. Mitochondrial Complex I activity signals antioxidant response through ERK5. Science Report,2018. https://doi.org/10.1038/s41598-018-23884-4

Torralba D, Baixauli F, Villarroya-Beltri C, Fernández-Delgado I, Latorre-Pellicer A, Acín-Pérez R, Martín-Cófreces NB, Jaso-Tamame ÁL, Iborra S, Jorge I, González-Aseguinolaza G, Garaude J, Vicente-Manzanares M, Enríquez JA, Mittelbrunn M, Sánchez-Madrid F. Priming of dendritic cells by DNA-containing extracellular vesicles from activated T cells through antigen-driven contacts. Nat Commun. 2018. https://doi.org/10.1038/s41467-018-05077-9

Kuster A, Arnoux JB, Barth M, Lamireau D, Houcinat N, Goizet C, Doray B, Gobin S, Schiff M, Cano A, Amsallem D, Barnerias C, Chaumette B, Plaze M, Slama A, Ioos C, Desguerre I, Lebre AS, de Lonlay P, Christa L. Diagnostic approach to neurotransmitter monoamine disorders: experience from clinical, biochemical, and genetic profiles. J. Inherit. Metab. Dis. 2018, 41 :129-139. https://doi.org/10.1007/s10545-017-0079-6

Mathis S, Tazir M, Magy L, Duval F, Le Masson G, Duchesne M, Couratier P, Ghorab K, Solé G, Lacoste I, Goizet C, Vallat JM. History and current difficulties in classifying inherited myopathies and muscular dystrophies. J. Neurol. Sci. 2018, 384 : 50-54. https://doi.org/10.1016/j.jns.2017.10.051

Trimouille A, Obre É, Banneau G, Durr A, Stevanin G, Clot F, Pennamen P, Perez JT, Bailly-Scappaticci C, Rouanet M, Delleci C, Sole G, Mathis S, Goizet C. An in-frame deletion in BICD2 associated with a non-progressive form of SMALED. Clin. Neurol. Neurosurg. 2018, 166 : 1-3. https://doi.org/10.1016/j.clineuro.2018.01.013

Renaud M, Moreira MC, Ben Monga B, Rodriguez D, Debs R, Charles P, Chaouch M, Ferrat F, Laurencin C, Vercueil L, Mallaret M, M’Zahem A, Pacha LA, Tazir M, Tilikete C, Ollagnon E, Ochsner F, Kuntzer T, Jung HH, Beis JM, Netter JC, Djamshidian A, Bower M, Bottani A, Walsh R, Murphy S, Reiley T, Bieth É, Roelens F, Poll-The BT, Lourenço CM, Jardim LB, Straussberg R, Landrieu P, Roze E, Thobois S, Pouget J, Guissart C, Goizet C, Dürr A, Tranchant C, Koenig M, Anheim M. Clinical, Biomarker, and Molecular Delineations and Genotype-Phenotype Correlations of Ataxia With Oculomotor Apraxia Type 1. JAMA Neurol. 2018, 75 : 495-502. https://doi.org/10.1001/jamaneurol.2017.4373

Louvrier C, Pasmant E, Briand-Suleau A, Cohen J, Nitschké P, Nectoux J, Orhant L, Zordan C, Goizet C, Goutagny S, Lallemand D, Vidaud M, Vidaud D, Kalamarides M, Parfait B. Targeted next-generation sequencing for differential diagnosis of neurofibromatosis type 2, schwannomatosis, and meningiomatosis. Neuro. Oncol. 2018, 20 : 917-929. https://doi.org/10.1093/neuonc/noy009

Magy L, Mathis S, Le Masson G, Goizet C, Tazir M, Vallat JM. Updating the classification of inherited neuropathies: Results of an international survey. Neurology. 2018, 90 : e870-e876. https://doi.org/10.1212/WNL.05074

Roubertie A, Hieu N, Roux CJ, Leboucq N, Manes G, Charif M, Echenne B, Goizet C, Guissart C, Meyer P, Marelli C, Rivier F, Burglen L, Horvath R, Hamel CP, Lenaers G. AP4 deficiency: A novel form of neurodegeneration with brain iron accumulation? Neurol. Genet. 2018, 4 : e217. https://doi.org/10.1212/NXG.000217

Coutelier M, Hammer MB, Stevanin G, Monin ML, Davoine CS, Mochel F, Labauge P, Ewenczyk C, Ding J, Gibbs JR, Hannequin D, Melki J, Toutain A, Laugel V, Forlani S, Charles P, Broussolle E, Thobois S, Afenjar A, Anheim M, Calvas P, Castelnovo G, de Broucker T, Vidailhet M, Moulignier A, Ghnassia RT, Tallaksen C, Mignot C, Goizet C, Le Ber I, Ollagnon-Roman E, Pouget J, Brice A, Singleton A, Durr A; Spastic Paraplegia and Ataxia Network. Efficacy of Exome-Targeted Capture Sequencing to Detect Mutations in Known Cerebellar Ataxia Genes. JAMA Neurol. 2018, 75 : 591-599. https://doi.org/10.1001/jamaneurol.2017.5121

Moutton S, Bruel AL, Assoum M, Chevarin M, Sarrazin E, Goizet C, Guerrot AM, Charollais A, Charles P, Heron D, Faudet A, Houcinat N, Vitobello A, Tran-Mau-Them F, Philippe C, Duffourd Y, Thauvin-Robinet C, Faivre L. Truncating variants of the DLG4 gene are responsible for intellectual disability with marfanoid features. Clin. Genet. 2018, 93 : 1172-1178. https://doi.org/10.1111/cge.13243

Hilz MJ, Arbustini E, Dagna L, Gasbarrini A, Goizet C, Lacombe D, Liguori R, Manna R, Politei J, Spada M, Burlina A. Non-specific gastrointestinal features: Could it be Fabry disease? Dig. Liver Dis. 2018, 50 : 429-437. https://doi.org/10.1016/j.dld.2018.02.011

Miguet M, Faivre L, Amiel J, Nizon M, Touraine R, Prieur F, Pasquier L, Lefebvre M, Thevenon J, Dubourg C, Julia S, Sarret C, Remerand G, Francannet C, Laffargue F, Boespflug-Tanguy O, David A, Isidor B, Vigneron J, Leheup B, Lambert L, Philippe C, Béri-Dexheimer M, Cuisset JM, Andrieux J, Plessis G, Toutain A, Guibaud L, Cormier-Daire V, Rio M, Bonnefont JP, Echenne B, Journel H, Burglen L, Chantot-Bastaraud S, Bienvenu T, Baumann C, Perrin L, Drunat S, Jouk PS, Dieterich K, Devillard F, Lacombe D, Philip N, Sigaudy S, Moncla A, Missirian C, Badens C, Perreton N, Thauvin-Robinet C, AChro-Puce R, Pedespan JM, Rooryck C, Goizet C, Vincent-Delorme C, Duban-Bedu B, Bahi-Buisson N, Afenjar A, Maincent K, Héron D, Alessandri JL, Martin-Coignard D, Lesca G, Rossi M, Raynaud M, Callier P, Mosca-Boidron AL, Marle N, Coutton C, Satre V, Caignec CL, Malan V, Romana S, Keren B, Tabet AC, Kremer V, Scheidecker S, Vigouroux A, Lackmy-Port-Lis M, Sanlaville D, Till M, Carneiro M, Gilbert-Dussardier B, Willems M, Van Esch H, Portes VD, El Chehadeh S. Further delineation of the MECP2 duplication syndrome phenotype in 59 French male patients, with a particular focus on morphological and neurological features. J. Med. Genet. 2018, 55 : 359-371. https://doi.org/10.1136/jmedgenet-104956

Zenagui R, Lacourt D, Pegeot H, Yauy K, Juntas Morales R, Theze C, Rivier F, Cances C, Sole G, Renard D, Walther-Louvier U, Ferrer-Monasterio X, Espil C, Arné-Bes MC, Cintas P, Uro-Coste E, Martin Negrier ML, Rigau V, Bieth E, Goizet C, Claustres M, Koenig M, Cossée M. A Reliable Targeted Next-Generation Sequencing Strategy for Diagnosis of Myopathies and Muscular Dystrophies, Especially for the Giant Titin and Nebulin Genes. J. Mol. Diagn. 2018, 20 : 533-549. https://doi.org/10.1016/j.jmoldx18.04.001

Mirchi A, Pelletier F, Tran LT, Keller S, Braverman N, Tonduti D, Vanderver A, Pizzino A, Dilenge ME, Poulin C, Shevell M, Majnemer A, Sébire G, Srour M, Osterman B, Boucher RM, Vanasse M, Rossignol E, Mitchell J, Venkateswaran S, Pohl D, Kauffman M, Schiffmann R, Goizet C, Moutton S, Roncarolo F, Bernard G. Health-Related Quality of Life for Patients With Genetically Determined Leukoencephalopathy. Pediatr. Neurol. 2018, 84 : 21-26. https://doi.org/10.1016/j.pediatrneurol015

Aupy J, Chaumont H, Bestaven E, Guillaud E, Cuny E, Goizet C, Burbaud P, Guehl D. Globus pallidus internus stimulation in spino-cerebellar ataxia type 3. J. Neurol. 2018 Jun 6. https://doi.org/10.1007/s00415-018

Seren S, Rashed Abouzaid M, Eulenberg-Gustavus C, Hirschfeld J, Soliman H, Jerke U, N’Guessan K, Dallet-Choisy S, Lesner A, Lauritzen C, Schacher B, Eickholz P, Nagy N, Szell M, Croix C, Viaud-Massuard MC, Al Farraj Aldosari A, Ragunatha S, Ibrahim Mostafa M, Giampieri F, Battino M, Cornillier H, Lorette G, Stephan JL, Goizet C, Pedersen J, Gauthier F, Jenne DE, Marchand-Adam S, Chapple IL, Kettritz R, Korkmaz B. Consequences of cathepsin C inactivation on membrane exposure of proteinase 3, the target antigen in autoimmune vasculitis. J. Biol. Chem. 2018, 293 : 12415-12428. https://doi.org/10.1074/jbc.RA118.1922

Ramos EM, Carecchio M, Lemos R, Ferreira J, Legati A, Sears RL, Hsu SC, Panteghini C, Magistrelli L, Salsano E, Esposito S, Taroni F, Richard AC, Tranchant C, Anheim M, Ayrignac X, Goizet C, Vidailhet M, Maltete D, Wallon D, Frebourg T, Pimentel L, Geschwind DH, Vanakker O, Galasko D, Fogel BL, Innes AM, Ross A, Dobyns WB, Alcantara D, O’Driscoll M, Hannequin D, Campion D; French PFBC study group, Oliveira JR, Garavaglia B, Coppola G, Nicolas G. Primary brain calcification: an international study reporting novel variants and associated phenotypes. Eur. J. Hum. Genet. 2018, 26 : 1462-1477. https://doi.org/10.1038/s41431-018-0185-4

Valence S, Cochet E, Rougeot C, Garel C, Chantot-Bastaraud S, Lainey E, Afenjar A, Barthez MA, Bednarek N, Doummar D, Faivre L, Goizet C, Haye D, Heron B, Kemlin I, Lacombe D, Milh M, Moutard ML, Riant F, Robin S, Roubertie A, Sarda P, Toutain A, Villard L, Ville D, Billette de Villemeur T, Rodriguez D, Burglen L. Exome sequencing in congenital ataxia identifies two new candidate genes and highlights a pathophysiological link between some congenital ataxias and early infantile epileptic encephalopathies. Genet. Med. 2018 Jul 12. https://doi.org/10.1038/s41436-018

McNulty P, Pilcher R, Ramesh R, Necuiniate R, Hughes A, Farewell D, Holmans P, Jones L; REGISTRY Investigators of the European Huntington’s Disease Network. Reduced Cancer Incidence in Huntington’s Disease: Analysis in the Registry Study. J. Huntingtons Dis. 2018, 7 : 209-222.

Mathis S, Tazir M, Solé G, Magy L, Le Masson G, Couratier P, Ghorab K, Duval F, Lacoste I, Goizet C, Vallat JM. Some new proposals for the classification of inherited myopathies. J. Neurol. Sci. 2018, 391 : 118-119. https://doi.org/10.1016/j.jns.2018.06.014

Angelini C, Van Gils J, Bigourdan A, Jouk PS, Lacombe D, Menegon P, Moutton S, Riant F, Sole G, Tournier-Lasserve E, Trimouille A, Vincent M, Goizet C. Major intra-familial phenotypic heterogeneity and incomplete penetrance due to a CACNA1A pathogenic variant. Eur. J. Med. Genet. 2018 Aug 22. https://doi.org/10.1016/j.ejmg.2018.08.011

Nadjar Y, Hütter-Moncada AL, Latour P, Ayrignac X, Kaphan E, Tranchant C, Cintas P, Degardin A, Goizet C, Laurencin C, Martzolff L, Tilikete C, Anheim M, Audoin B, Deramecourt V, De Gaillarbois TD, Roze E, Lamari F, Vanier MT, Héron B. Adult Niemann-Pick disease type C in France: clinical phenotypes and long-term miglustat treatment effect. Orphanet J. Rare Dis. 2018, 13 : 175. https://doi.org/10.1186/s13023-0913-4

Parodi L, Fenu S, Barbier M, Banneau G, Duyckaerts C, Tezenas du Montcel S, Monin ML, Ait Said S, Guegan J, Tallaksen CME, Sablonniere B, Brice A, Stevanin G, Depienne C, Durr A; SPATAX network. Spastic paraplegia due to SPAST mutations is modified by the underlying mutation and sex. Brain 2018,141 : 3331-3342. https://doi.org/10.1093/brain/awy285

Oosterloo M, Bijlsma EK, van Kuijk SM, Minkels F, de Die-Smulders CE; REGISTRY Investigators of the European Huntington’s Disease Network; Registry Steering committee; Language coordinators; EHDN’s associate site in Singapore. Clinical and genetic characteristics of late-onset Huntington’s disease. Parkinsonism Relat. Disord. 2018 Nov 29. https://doi.org/10.1016/2018.11.009

Dorval G, Gribouval O, Martinez-Barquero V, Machuca E, Tête MJ, Baudouin V, Benoit S, Chabchoub I, Champion G, Chauveau D, Chehade H, Chouchane C, Cloarec S, Cochat P, Dahan K, Dantal J, Delmas Y, Deschênes G, Dolhem P, Durand D, Ekinci Z, El Karoui K, Fischbach M, Grunfeld JP, Guigonis V, Hachicha M, Hogan J, Hourmant M, Hummel A, Kamar N, Krummel T, Lacombe D, Llanas B, Mesnard L, Mohsin N, Niaudet P, Nivet H, Parvex P, Pietrement C, de Pontual L, Noble CP, Ribes D, Ronco P, Rondeau E, Sallee M, Tsimaratos M, Ulinski T, Salomon R, Antignac C, Boyer O. Clinical and genetic heterogeneity in familial steroid-sensitive nephrotic syndrome. Pediatr Nephrol. 2018 Mar;33(3):473-483. https://doi.org/10.1007/s00467-3819-9

Szelechowski M, Amoedo N, Obre E, Léger C, Allard L, Bonneu M, Claverol S, Lacombe D, Oliet S, Chevallier S, Le Masson G, Rossignol R. Metabolic Reprogramming in Amyotrophic Lateral Sclerosis. Sci Rep. 2018 Mar 2;8(1):3953. https://doi.org/10.1038/s41598-018-22318-5

Chartier S, Alby C, Boutaud L, Thomas S, Elkhartoufi N, Martinovic J, Kaplan J, Benachi A, Lacombe D, Sonigo P, Drunat S, Vekemans M, Agenor J, Encha Razavi F, Attie-Bitach T. A neuropathological study of novel RTTN gene mutations causing a familial microcephaly with simplified gyral pattern. Birth Defects Res. 2018 Apr 17;110(7):598-602 https://doi.org/10.1002/bdr2.1204

Lefebvre M, Dieux-Coeslier A, Baujat G, Schaefer E, Judith SO, Bazin A, Pinson L, Attie-Bitach T, Baumann C, Fradin M, Pierquin G, Julia S, Quélin C, Doray B, Berg S, Vincent-Delorme C, Lambert L, Bachmann N, Lacombe D, Isidor B, Laurent N, Joelle R, Blanchet P, Odent S, Kervran D, Leporrier N, Abel C, Segers K, Guiliano F, Ginglinger-Fabre E, Selicorni A, Goldenberg A, El Chehadeh S, Francannet C, Demeer B, Duffourd Y, Thauvin-Robinet C, Verloes A, Cormier-Daire V, Riviere JB, Faivre L, Thevenon J. Diagnostic strategy in segmentation defect of the vertebrae: a retrospective study of 73 patients. J Med Genet. 2018 Jun;55(6):422-429. https://doi.org/10.1136/jmedgenet-104939

Baer S, Afenjar A, Smol T, Piton A, Gérard B, Alembik Y, Bienvenu T, Boursier G, Boute O, Colson C, Cordier MP, Cormier-Daire V, Delobel B, Doco-Fenzy M, Duban-Bedu B, Fradin M, Geneviève D, Goldenberg A, Grelet M, Haye D, Heron D, Isidor B, Keren B, Lacombe D, Lèbre AS, Lesca G, Masurel A, Mathieu-Dramard M, Nava C, Pasquier L, Petit A, Philip N, Piard J, Rondeau S, Saugier-Veber P, Sukno S, Thevenon J, Van-Gils J, Vincent-Delorme C, Willems M, Schaefer E, Morin G. Wiedemann-Steiner syndrome as a major cause of syndromic intellectual disability: A study of 33 French cases. Clin Genet. 2018 Jul;94(1):141-152. https://doi.org/10.1111/cge.13254

Mauhin W, Lidove O, Amelin D, Lamari F, Caillaud C, Mingozzi F, Dzangué-Tchoupou G, Arouche-Delaperche L, Douillard C, Dussol B, Leguy-Seguin V, D’Halluin P, Noel E, Zenone T, Matignon M, Maillot F, Ly KH, Besson G, Willems M, Labombarda F, Masseau A, Lavigne C, Froissart R, Lacombe D, Ziza JM, Hachulla E, Benveniste O. Deep characterization of the anti-drug antibodies developed in Fabry disease patients, a prospective analysis from the French multicenter cohort FFABRY. Orphanet J Rare Dis. 2018 Jul 31;13(1):127. https://doi.org/10.1186/s13023-018-0877-4

Ivanovski I, Djuric O, Caraffi SG, Santodirocco D, Pollazzon M, Rosato S, Cordelli DM, Abdalla E, Accorsi P, Adam MP, Ajmone PF, Badura-Stronka M, Baldo C, Baldi M, Bayat A, Bigoni S, Bonvicini F, Breckpot J, Callewaert B, Cocchi G, Cuturilo G, De Brasi D, Devriendt K, Dinulos MB, Hjortshøj TD, Epifanio R, Faravelli F, Fiumara A, Formisano D, Giordano L, Grasso M, Grønborg S, Iodice A, Iughetti L, Kuburovic V, Kutkowska-Kazmierczak A, Lacombe D, Lo Rizzo C, Luchetti A, Malbora B, Mammi I, Mari F, Montorsi G, Moutton S, Møller RS, Muschke P, Nielsen JEK, Obersztyn E, Pantaleoni C, Pellicciari A, Pisanti MA, Prpic I, Poch-Olive ML, Raviglione F, Renieri A, Ricci E, Rivieri F, Santen GW, Savasta S, Scarano G, Schanze I, Selicorni A, Silengo M, Smigiel R, Spaccini L, Sorge G, Szczaluba K, Tarani L, Tone LG, Toutain A, Trimouille A, Valera ET, Vergano SS, Zanotta N, Zenker M, Conidi A, Zollino M, Rauch A, Zweier C, Garavelli L. Phenotype and genotype of 87 patients with Mowat-Wilson syndrome and recommendations for care. Genet Med. 2018 Sep;20(9):965-975. https://doi.org/10.1038/gim.2017.221

Jose C, Hebert-Chatelain E, Dias Amoedo N, Roche E, Obre E, Lacombe D, Rezvani HR, Pourquier P, Nouette-Gaulain K, Rossignol R. Redox mechanism of levobupivacaine cytostatic effect on human prostate cancer cells. Redox Biol. 2018 Sep;18:33-42. https://doi.org/10.1016/j.redox.2018.05.014

Brischoux-Boucher E, Trimouille A, Baujat G, Goldenberg A, Schaefer E, Guichard B, Hannequin P, Paternoster G, Baer S, Cabrol C, Weber E, Godfrin G, Lenoir M, Lacombe D, Collet C, Van Maldergem L. IL11RA-related Crouzon-like autosomal recessive craniosynostosis in 10 new patients: Resemblances and differences. Clin Genet. 2018 Oct;94(3-4):373-380. https://doi.org/10.1111/cge.13409

Bessis D, Miquel J, Bourrat E, Chiaverini C, Morice-Picard F, Abadie C, Manna F, Baumann C, Best M, Blanchet P, Bursztejn AC, Capri Y, Coubes C, Giuliano F, Guillaumont S, Hadj-Rabia S, Jacquemont ML, Jeandel C, Lacombe D, Mallet S, Mazereeuw-Hautier J, Molinari N, Pallure V, Pernet C, Philip N, Pinson L, Sarda P, Sigaudy S, Vial Y, Willems M, Geneviève D, Verloes A, Cavé H. Dermatological manifestations in Noonan syndrome: a prospective multicentric study of 129 patients positive for mutation. Br J Dermatol. 2018 Nov 12. https://doi.org/10.1111/bjd.17404

Lebrun N, Mehler-Jacob C, Poirier K, Zordan C, Lacombe D, Carion N, Billuart P, Bienvenu T. Novel KDM5B splice variants identified in patients with developmental disorders: Functional consequences. Gene. 2018 Dec 30;679:305-313. https://doi.org/10.1016/j.gene.2018.09.016

de Taffin de Tilques M, Lasserre JP, Godard F, Sardin E, Bouhier M, Le Guedard M, Kucharczyk R, Petit PX, Testet E, di Rago JP, Tribouillard-Tanvier D. (2018) Decreasing cytosolic translation is beneficial to yeast and human Tafazzin-deficient cells. Microb Cell. 5(5):220-232. https://doi.org/10.15698/mic2018.05.629

Skoczeń N, Dautant A, Binko K, Godard F, Bouhier M, Su X, Lasserre JP, Giraud MF, Tribouillard-Tanvier D, Chen H, di Rago JP, Kucharczyk R. Molecular basis of diseases caused by the mtDNA mutation m.8969G>A in the subunit a of ATP synthase. Biochim Biophys Acta Bioenerg. (2018) 1859(8):602-611. https://doi.org/10.1016/j.bbabio.2018.05.009

Reant P, Dufour M, Peyrou J, Reynaud A, Rooryck C, Dijos M, Vincent C, Cornolle C, Roudaut R, Lafitte S. Upright treadmill vs. semi-supine bicycle exercise echocardiography to provoke obstruction in symptomatic hypertrophic cardiomyopathy: a pilot study. Eur Heart J Cardiovasc Imaging. 2018 Jan 1;19(1):31-38. https://doi.org/10.1093/ehjci/jew313

Lasseaux E, Plaisant C, Michaud V, Pennamen P, Trimouille A, Gaston L, Monfermé S, Lacombe D, Rooryck C, Morice-Picard F, Arveiler B. Molecular characterization of a series of 990 index patients with albinism. Pigment Cell Melanoma Res. 2018 Jul;31(4):466-474. https://doi.org/10.1111/pcmr.12688

Vergé MP, Cochet H, Reynaud A, Morlon L, Peyrou J, Vincent C, Rooryck C, Ritter P, Lafitte S, Réant P. Characterization of hypertrophic cardiomyopathy according to global, regional, and multi-layer longitudinal strain analysis, and prediction of sudden cardiac death. Int J Cardiovasc Imaging. 2018 Jul;34(7):1091-1098. https://doi.org/10.1007/s10554-018-1323-3

Martin-Brevet S, Rodríguez-Herreros B, Nielsen JA, Moreau C, Modenato C, Maillard AM, Pain A, Richetin S, Jønch AE, Qureshi AY, Zürcher NR, Conus P; 16p11.2 European Consortium; Simons Variation in Individuals Project (VIP) Consortium including Rooryck C, Chung WK, Sherr EH, Spiro JE, Kherif F, Beckmann JS, Hadjikhani N, Reymond A, Buckner RL, Draganski B, Jacquemont S. Quantifying the Effects of 16p11.2 Copy Number Variants on Brain Structure: A Multisite Genetic-First Study. Biol Psychiatry. 2018 Aug 15;84(4):253-264. https://doi.org/10.1016/j.biopsych.2018.02.1176

Allach El Khattabi L, Brun S, Gueguen P, Chatron N, Guichoux E, Schutz S, Nectoux J, Sorlin A, Quere M, Boudjarane J, Tsatsaris V, Mandelbrot L, Schluth-Bolard C, Dupont JM, Rooryck C; H+ Consortium. Performance of Semiconductor sequencing platform for non-invasive prenatal genetic screening for fetal aneuploidies: results from a multicenter prospective cohort study in a clinical setting. Ultrasound Obstet Gynecol. 2018 Sep 6. https://doi.org/10.1002/uog.20112

Dubes V, Benoist D, Roubertie F, Gilbert SH, Constantin M, Charron S, Elbes D, Vieillot D, Quesson B, Cochet H, Haïssaguerre M, Rooryck C, Bordachar P, Thambo JB, Bernus O. Arrhythmogenic Remodeling of the Left Ventricle in a Porcine Model of Repaired Tetralogy of Fallot. Circ Arrhythm Electrophysiol. 2018 Oct;11(10). https://doi.org/10.1161/CIRCEP.117.006059

van der Sluijs EPJ, Jansen S, Vergano SA, Adachi-Fukuda M, Alanay Y, AlKindy A, Baban A, Bayat A, Beck-Wödl S, Berry K, Bijlsma EK, Bok LA, Brouwer AFJ, van der Burgt I, Campeau PM, Canham N, Chrzanowska K, Chu YWY, Chung BHY, Dahan K, De Rademaeker M, Destree A, Dudding-Byth T, Earl R, Elcioglu N, Elias ER, Fagerberg C, Gardham A, Gener B, Gerkes EH, Grasshoff U, van Haeringen A, Heitink KR, Herkert JC, den Hollander NS, Horn D, Hunt D, Kant SG, Kato M, Kayserili H, Kersseboom R, Kilic E, Krajewska-Walasek M, Lammers K, Laulund LW, Lederer D, Lees M, López-González V, Maas S, Mancini GMS, Marcelis C, Martinez F, Maystadt I, McGuire M, McKee S, Mehta S, Metcalfe K, Milunsky J, Mizuno S, Moeschler JB, Netzer C, Ockeloen CW, Oehl-Jaschkowitz B, Okamoto N, Olminkhof SNM, Orellana C, Pasquier L, Pottinger C, Riehmer V, Robertson SP, Roifman M, Rooryck C, Ropers FG, Rosello M, Ruivenkamp CAL, Sagiroglu MS, Sallevelt SCEH, Sanchis Calvo A, Simsek-Kiper PO, Soares G, Solaeche L, Mujgan Sonmez F, Splitt M, Steenbeek D, Stegmann APA, Stumpel CTRM, Tanabe S, Uctepe E, Utine GE, Veenstra-Knol HE, Venkateswaran S, Vilain C, Vincent-Delorme C, Vulto-van Silfhout AT, Wheeler P, Wilson GN, Wilson LC, Wollnik B, Kosho T, Wieczorek D, Eichler E, Pfundt R, de Vries BBA, Clayton-Smith J, Santen GWE. The ARID1B spectrum in 143 patients: from nonsyndromic intellectual disability to Coffin-Siris syndrome. Genet Med. 2018 Nov 8. https://doi.org/10.1038/s41436-018-0330-z

Monfermé S, Lasseaux E, Duncombe-Poulet C, Hamel C, Defoort-Dhellemmes S, Drumare I, Zanlonghi X, Dollfus H, Perdomo Y, Bonneau D, Korobelnik JF, Plaisant C, Michaud V, Pennamen P, Rooryck-Thambo C, Morice-Picard F, Paya C, Arveiler B. Mild form of oculocutaneous albinism type 1: phenotypic analysis of compound heterozygous patients with the R402Q variant of the TYR gene. Br J Ophthalmol. 2018 Nov 24. https://doi.org/10.1136/bjophthalmol-2018-312729

Berenguer M, Darnaudery M, Claverol S, Bonneu M, Lacombe D, Rooryck C. Prenatal retinoic acid exposure reveals candidate genes for craniofacial disorders. Sci Rep. 2018 Nov 30;8(1):17492. https://doi.org/10.1038/s41598-018-35681-0

Brun S, Pennamen P, Mattuizzi A, Coatleven F, Vuillaume ML, Lacombe D, Arveiler B, Toutain J, Rooryck C. Interest of Chromosomal Microarray Analysis in the prenatal diagnosis of fetal intrauterine growth restriction. Prenat Diagn. 2018 Dec;38(13):1111-1119. https://doi.org/10.1002/pd.5372

Hosseini M, Dousset L, Mahfouf W, Serrano-Sanchez M, Redonnet-Vernhet I, Mesli S, Kasraian Z, Obre E, Bonneu M, Claverol S, Vlaski M, Ivanovic Z, Rachidi W, Douki T, Taieb A, Bouzier-Sore AK, Rossignol R, Rezvani HR. Energy Metabolism Rewiring Precedes UVB-Induced Primary Skin Tumor Formation. Cell Rep. 2018 Jun 19;23(12):3621-3634. https://doi.org/10.1016/j.celrep.2018.05.060

Vlaski-Lafarge M, Loncaric D, Perez L, Labat V, Debeissat C, Brunet de la Grange P, Rossignol R, Ivanovic Z, Bœuf H. Bioenergetic Changes Underline Plasticity of Murine Embryonic Stem Cells. Stem Cells. 2018 Dec 31. https://doi.org/10.1002/stem.2965

Langeron O, Bourgain JL, Francon D, Amour J, Baillard C, Bouroche G, Chollet Rivier M, Lenfant F, Plaud B, Schoettker P, Fletcher D, Velly L, Nouette-Gaulain K. Difficult intubation and extubation in adult anaesthesia. Anaesth Crit Care Pain Med. 2018 Dec;37(6):639-651. DOI: 10.1016/j.accpm.2018.03.013

de Courson H, Sesay M, Nouette-Gaulain K, Biais M. In Reply. Anesthesiology. 2018 May;128(5):1044. DOI: 10.1097/ALN.0000000000002142

Giraudon A, Bordes-Demolis M, Semjen F, Biais M, Nouette-Gaulain K. Comparing McGrath^® MAC video laryngoscope with Macintosh direct laryngoscopy for novice laryngoscopists in children. Reply. Anaesth Crit Care Pain Med. 2018 Oct;37(5):473. DOI: 10.1016/j.accpm.2017.10.003

2017

Arveiler B, Lasseaux E, Morice-Picard F. Clinical and genetic aspects of albinism. Presse Med. 2017 Jul – Aug;46(7-8 Pt 1):648-654.

Loviglio MN, Arbogast T, Jønch AE, Collins SC, Popadin K, Bonnet CS, Giannuzzi G, Maillard AM, Jacquemont S; 16p11.2 Consortium, Yalcin B, Katsanis N, Golzio C, Reymond A. The Immune Signaling Adaptor LAT Contributes to the Neuroanatomical Phenotype of 16p11.2 BP2-BP3 CNVs. Am J Hum Genet. 2017 Oct 5;101(4):564-577.

Lutfi E, Babin PJ, Gutiérrez J, Capilla E, Navarro I. Caffeic acid and hydroxytyrosol have anti-obesogenic properties in zebrafish and rainbow trout models. PLoS One 12:e0178833, 2017.

Tingaud-Sequeira A, Raldúa D, Lavie J, Mathieu G, Bordier M, Knoll-Gellida A, Rambeau P, Coupry I, André M, Malm E, Möller C, Andreasson S, Rendtorff ND, Tranebjærg L, Koenig M, Lacombe D, Goizet C, Babin PJ. Functional validation of ABHD12 mutations in the neurodegenerative disease PHARC. Neurobiology of Disease 98, 36-51, 2017.

Imasawa T, Obre E, Bellance N, Lavie J, Imasawa T, Rigothier C, Delmas Y, Combe C, Lacombe D, Benard G, Claverol S, Bonneu M, Rossignol R. High glucose repatterns human podocyte energy metabolism during differentiation and diabetic nephropathy. FASEB J. 2017 Jan;31(1):294-307.

Lavie J, Serrat R, Bellance N, Courtand G, Dupuy JW, Tesson C, Coupry I, Brice A, Lacombe D, Durr A, Stevanin G, Darios F, Rossignol R, Goizet C, Bénard G. Mitochondrial morphology and cellular distribution are altered in SPG31 patients and are linked to DRP1 hyperphosphorylation. Hum Mol Genet. 2017 Feb 15;26(4):674-685.

Berrou E, Adam F, Lebret M, Planche V, Fergelot P, Issertial O, Coupry I, Bordet JC, Nurden P, Bonneau D, Colin E, Goizet C, Rosa JP, Bryckaert M. Gain-of-Function Mutation in Filamin A Potentiates Platelet Integrin αIIbβ3 Activation. Arterioscler Thromb Vasc Biol. 2017 Jun;37(6):1087-1097.

Michaud V, Lasseaux E, Plaisant C, Verloes A, Perdomo-Trujillo Y, Hamel C, Elcioglu NH, Leroy B, Kaplan J, Jouk PS, Lacombe D, Fergelot P, Morice-Picard F, Arveiler B. Clinico-molecular analysis of eleven patients with Hermansky-Pudlak type 5 syndrome, a mild form of HPS. Pigment Cell Melanoma Res. 2017 Jan;30(6):563-570.

Hinzpeter A, Reboul MP, Callebaut I, Zordan C, Costes B, Guichoux J, Iron A, Lacombe D, Martin N, Arveiler B, Fanen P, Fergelot P, Girodon E. The importance of functional tests to assess the effect of a new CFTR variant when genotype-phenotype correlation is not possible. Clin Case Rep. 2017 Mar 30;5(5):658-663.

Martinho S, Levade T, Fergelot P, Stephan JL. Papillon-Lefèvre syndrome: A new case. Arch Pediatr. 2017 Apr;24(4):360-362.

Joly P, Vignaud H, Di Martino J, Ruiz M, Garin R, Restier L, Belmalih A, Marchal C, Cullin C, Arveiler B, Fergelot P, Gitler AD, Lachaux A, Couthouis J, Bouchecareilh M. ERAD defects and the HFE-H63D variant are associated with increased risk of liver damages in Alpha 1-Antitrypsin Deficiency. PLoS One. 2017Jun 15;12(6):e0179369.

Berrou E, Adam F, Lebret M, Planche V, Fergelot P, Issertial O, Coupry I, Bordet JC, Nurden P, Bonneau D, Colin E, Goizet C, Rosa JP, Bryckaert M. Gain-of-Function Mutation in Filamin A Potentiates Platelet Integrin α(IIb)β(3) Activation. Arterioscler Thromb Vasc Biol. 2017 Jun;37(6):1087-1097.

Claustres M, Thèze C, des Georges M, Baux D, Girodon E, Bienvenu T, Audrezet MP, Dugueperoux I, Férec C, Lalau G, Pagin A, Kitzis A, Thoreau V, Gaston V, Bieth E, Malinge MC, Reboul MP, Fergelot P, Lemonnier L, Mekki C, Fanen P, Bergougnoux A, Sasorith S, Raynal C, Bareil C. CFTR-France, a national relational patient database for sharing genetic and phenotypic data associated with rare CFTR variants. Hum Mutat. 2017 Oct;38(10):1297-1315.

Trimouille A, Barouk-Simonet E, Charron S, Bouron J, Bernhard JC, Lacombe D, Fergelot P, Rooryck C. Deletion of the transcription factor SOX4 is implicated insyndromic nephroblastoma. Clin Genet. 2017 Oct;92(4):449-450.

Cazalets JR, Bestaven E, Doat E, Baudier MP, Gallot C, Amestoy A, Bouvard M, Guillaud E, Guillain I, Grech E, Van-Gils J, Fergelot P, Fraisse S, Taupiac E, Arveiler B, Lacombe D. Evaluation of Motor Skills in Children with Rubinstein-Taybi Syndrome. J Autism Dev Disord. 2017 Nov;47(11):3321-3332.

Sancho D., Enamorado M., Garaude J. Innate immune function of mitochondrial metabolism. Frontiers in Immunology, 2017 May8;8:527.

Sander L.E. and Garaude J., The mitochondrial respiratory chain: a metabolic rheostat of antibacterial immunity. Mitochondrion, 2017 Oct 17.

Lidove O, Belmatoug N, Froissart R, Lavigne C, Durieu I, Mazodier K, Serratrice C, Douillard C, Goizet C, Cathebras P, Besson G, Amoura Z, Tazi A, Gatfossé M, Rivière S, Sené T, Vanier MT, Ziza JM. Acid sphingomyelinase deficiency (Niemann-Pick disease type B) in adulthood: A retrospective multicentric study of 28 adult cases. Rev. Med. Interne 2017, 38 : 291-299.

Contis A, Gensous N, Viallard JF, Goizet C, Léauté-Labrèze C, Duffau P. Efficacy and safety of propranolol for epistaxis in Hereditary Hemorrhagic Telangiectasia (HHT); retrospective, then prospective study, in a total of 21 patients. Clin. Otolaryngol. 2017, 42 : 911-917.

Echaniz-Laguna A, Geuens T, Petiot P, Péréon Y, Adriaenssens E, Haidar M, Capponi S, Maisonobe T, Fournier E, Dubourg O, Degos B, Salachas F, Lenglet T, Eymard B, Delmont E, Pouget J, Morales R, Goizet C, Latour P, Timmerman V, Stojkovic T. Axonal Neuropathies due to Mutations in Small Heat Shock Proteins: Clinical, Genetic and Functional Insights into Novel Mutations. Hum. Mutat. 2017, 38 : 556-568.

Nambot S, Gavrilov D, Thevenon J, Bruel AL, Bainbridge M, Rio M, Goizet C, Rötig A, Jaeken J, Niu N, Xia F, Vital A, Houcinat N, Mochel F, Kuentz P, Lehalle D, Duffourd Y, Rivière JB, Thauvin-Robinet C, Beaudet AL, Faivre L. Further delineation of a rare recessive encephalomyopathy linked to mutations in GFER thanks to Data Sharing of whole exome sequencing data. Clin. Genet. 2017, 92 : 188-198.

Lacalm A, Mazery AC, Visier A, Baumann C, Lachesnais D, Capri Y, Toutain A, Odent S, Mikaty M, Goizet C, Taupiac E, Jacquemont ML, Sanchez E, Schaefer E, Gatinois V, Faivre L, Minot D, Kayirangwa H, Sang KLQ, Boddaert N, Bayard S, Lacombe D, Moutton S, Touitou I, Rio M, Amiel J, Lyonnet S, Sanlaville D, Picot MC, Geneviève D. Molecular, clinical and neuropsychological study in 31 patients with Kabuki syndrome and KMT2D mutations. Clin. Genet. 2017, 92 : 298-305.

Contis A, Mitrovic S, Lavie J, Douchet I, Lazaro E, Truchetet ME, Goizet C, Contin-Bordes C, Schaeverbeke T, Blanco P, Rossignol R, Faustin B, Richez C, Duffau P. Neutrophil-derived mitochondrial DNA promotes receptor activator of nuclear factor κB and its ligand signalling in rheumatoid arthritis. Rheumatology (Oxford). 2017, 56:1200-1205.

Verny C, Bachoud-Lévi AC, Durr A, Goizet C, Azulay JP, Simonin C, Tranchant C, Calvas F, Krystkowiak P, Charles P, Youssov K, Scherer C, Prundean A, Olivier A, Reynier P, Saudou F, Maison P, Allain P, von Studnitz E, Bonneau D; CYST-HD Study Group. A randomized, double-blind, placebo-controlled trial evaluating cysteamine in Huntington’s disease. Mov. Disord. 2017, 32 : 932-936.

Coutelier M, Coarelli G, Monin ML, Konop J, Davoine CS, Tesson C, Valter R, Anheim M, Behin A, Castelnovo G, Charles P, David A, Ewenczyk C, Fradin M, Goizet C, Hannequin D, Labauge P, Riant F, Sarda P, Sznajer Y, Tison F, Ullmann U, Van Maldergem L, Mochel F, Brice A, Stevanin G, Durr A; SPATAX network. A panel study on patients with dominant cerebellar ataxia highlights the frequency of channelopathies. Brain 2017, 140 : 1579-1594.

Moss DJH, Pardiñas AF, Langbehn D, Lo K, Leavitt BR, Roos R, Durr A, Mead S; TRACK-HD investigators; REGISTRY investigators, Holmans P, Jones L, Tabrizi SJ. Identification of genetic variants associated with Huntington’s disease progression: a genome-wide association study. Lancet Neurol. 2017, 16 : 701-711.

Arnaud P, Hanna N, Aubart M, Leheup B, Dupuis-Girod S, Naudion S, Lacombe D, Milleron O, Odent S, Faivre L, Bal L, Edouard T, Collod-Beroud G, Langeois M, Spentchian M, Gouya L, Jondeau G, Boileau C. Homozygous and compound heterozygous mutations in the FBN1 gene: unexpected findings in molecular diagnosis of Marfan syndrome. J Med Genet. 2017 Feb;54(2):100-103.

Lacalm A, Fichez A, Broussin B, Abel C, Lacombe D, Guibaud L. Prenatal diagnosis of cerebral and Extra-cerebral High-flow lesion revealing unknown familial Cm-avm syndrome. Ultrasound Obstet Gynecol. 2017 Mar 13.

Ralser DJ, Basmanav FB, Tafazzoli A, Wititsuwannakul J, Delker S, Danda S, Thiele H, Wolf S, Busch M, Pulimood SA, Altmüller J, Nürnberg P, Lacombe D, Hillen U, Wenzel J, Frank J, Odermatt B, Betz RC. Mutations in γ-secretase subunit-encoding PSENEN underlie Dowling-Degos disease associated with acne inversa. J Clin Invest. 2017 Apr 3;127(4):1485-1490.

Cottineau J, Kottemann MC, Lach FP, Kang YH, Vély F, Deenick EK, Lazarov T, Gineau L, Wang Y, Farina A, Chansel M, Lorenzo L, Piperoglou C, Ma CS, Nitschke P, Belkadi A, Itan Y, Boisson B, Jabot-Hanin F, Picard C, Bustamante J, Eidenschenk C, Boucherit S, Aladjidi N, Lacombe D, Barat P, Qasim W, Hurst JA, Pollard AJ, Uhlig HH, Fieschi C, Michon J, Bermudez VP, Abel L, de Villartay JP, Geissmann F, Tangye SG, Hurwitz J, Vivier E, Casanova JL, Smogorzewska A, Jouanguy E. Inherited GINS1 deficiency underlies growth retardation along with neutropenia and NK cell deficiency. J Clin Invest. 2017 May 1; 127(5):1991-2006.

Garavelli L, Ivanovski I, Caraffi SG, Santodirocco D, Pollazzon M, Cordelli DM, Abdalla E, Accorsi P, Adam MP, Baldo C, Bayat A, Belligni E, Bonvicini F, Breckpot J, Callewaert B, Cocchi G, Cuturilo G, Devriendt K, Dinulos MB, Djuric O, Epifanio R, Faravelli F, Formisano D, Giordano L, Grasso M, Grønborg S, Iodice A, Iughetti L, Lacombe D, Maggi M, Malbora B, Mammi I, Moutton S, Møller R, Muschke P, Napoli M, Pantaleoni C, Pascarella R, Pellicciari A, Poch-Olive ML, Raviglione F, Rivieri F, Russo C, Savasta S, Scarano G, Selicorni A, Silengo M, Sorge G, Tarani L, Tone LG, Toutain A, Trimouille A, Valera ET, Vergano SS, Zanotta N, Zollino M, Dobyns WB, Paciorkowski AR. Neuroimaging findings in Mowat-Wilson syndrome: a study of 54 patients. Genet Med. 2017 Jun;19(6):691-700.

Kuentz P, St-Onge J, Duffourd Y, Courcet JB, Carmignac V, Jouan T, Sorlin A, Abasq-Thomas C, Albuisson J, Amiel J, Amram D, Arpin S, Attie-Bitach T, Bahi-Buisson N, Barbarot S, Baujat G, Bessis D, Boccara O, Bonnière M, Boute O, Bursztejn AC, Chiaverini C, Cormier-Daire V, Coubes C, Delobel B, Edery P, Chehadeh SE, Francannet C, Geneviève D, Goldenberg A, Haye D, Isidor B, Jacquemont ML, Khau Van Kien P, Lacombe D, Martin L, Martinovic J, Maruani A, Mathieu-Dramard M, Mazereeuw-Hautier J, Michot C, Mignot C, Miquel J, Morice-Picard F, Petit F, Phan A, Rossi M, Touraine R, Verloes A, Vincent M, Vincent-Delorme C, Whalen S, Willems M, Marle N, Lehalle D, Thevenon J, Thauvin-Robinet C, Hadj-Rabia S, Faivre L, Vabres P, Rivière JB. Molecular diagnosis of PIK3CA-related overgrowth spectrum (PROS) in 162 patients and recommendations for genetic testing. Genet Med. 2017 Sep;19(9):989-997.

Manna R, Cauda R, Feriozzi S, Gambaro G, Gasbarrini A, Lacombe D, Livneh A, Martini A, Ozdogan H, Pisani A, Riccio E, Verrecchia E, Dagna L; International Panel for RAre recurrent FUO-IPRAFUO. Recommendations for the inclusion of Fabry disease as a rare febrile condition in existing algorithms for fever of unknown origin. Intern Emerg Med. 2017 Oct;12(7):1059-1067.

Legendre M, Abadie V, Attié-Bitach T, Philip N, Busa T, Bonneau D, Colin E, Dollfus H, Lacombe D, Toutain A, Blesson S, Julia S, Martin-Coignard D, Geneviève D, Leheup B, Odent S, Jouk PS, Mercier S, Faivre L, Vincent-Delorme C, Francannet C, Naudion S, Mathieu-Dramard M, Delrue MA, Goldenberg A, Héron D, Parent P, Touraine R, Layet V, Sanlaville D, Quélin C, Moutton S, Fradin M, Jacquette A, Sigaudy S, Pinson L, Sarda P, Guerrot AM, Rossi M, Masurel-Paulet A, El Chehadeh S, Piguel X, Rodriguez-Ballesteros M, Ragot S, Lyonnet S, Bilan F, Gilbert-Dussardier B. Phenotype and genotype analysis of a French cohort of 119 patients with CHARGE syndrome. Am J Med Genet C Semin Med Genet. 2017 Dec;175(4):417-430.

de Taffin de Tilques M, Tribouillard-Tanvier D, Tétaud E, Testet E, di Rago JP, Lasserre JP. (2017) Overexpression of mitochondrial oxodicarboxylate carrier (ODC1) preserves oxidative phosphorylation in a yeast model of Barth syndrome. Dis Model Mech. 10(4):439-450.

Richard S, Lavie J, Banneau G, Voirand N, Lavandier K, Debouverie M. Hereditary spastic paraplegia due to a novel mutation of the REEP1 gene: Case report and literature review. Medicine (Baltimore). 2017 Jan;96(3):e5911.

Biais M, Lanchon R, Sesay M, Le Gall L, Pereira B, Futier E, Nouette-Gaulain K. Changes in Stroke Volume Induced by Lung Recruitment Maneuver Predict Fluid Responsiveness in Mechanically Ventilated Patients in the Operating Room. Anesthesiology. 2017 Feb;126(2):260-267.

Biais M, de Courson H, Lanchon R, Pereira B, Bardonneau G, Griton M, Sesay M, Nouette-Gaulain K. Mini-fluid Challenge of 100 ml of Crystalloid Predicts Fluid Responsiveness in the Operating Room. Anesthesiology. 2017 Sep;127(3):450-456.

Dessein AF, Fontaine M, Joncquel-Chevalier Curt M, Briand G, Sechter C, Mention-Mulliez K, Dobbelaere D, Douillard C, Lacour A, Redonnet-Vernhet I, Lamireau D, Barth M, Minot-Myhié MC, Kuster A, de Lonlay P, Gregersen N, Acquaviva C, Vianey-Saban C, Vamecq J. Fluxomic evidence for impaired contribution of short-chain acyl-CoA dehydrogenase to mitochondrial palmitate β-oxidation in symptomatic patients with ACADS gene susceptibility variants. Clin Chim Acta. 2017 Aug;471:101-106.

Küry S, Besnard T, Ebstein F, Khan TN, Gambin T, Douglas J, Bacino CA, Sanders SJ, Lehmann A, Latypova X, Khan K, Pacault M, Sacharow S, Glaser K, Bieth E, Perrin-Sabourin L, Jacquemont ML, Cho MT, Roeder E, Denommé-Pichon AS, Monaghan KG, Yuan B, Xia F, Simon S, Bonneau D, Parent P, Gilbert-Dussardier B, Odent S, Toutain A, Pasquier L, Barbouth D, Shaw CA, Patel A, Smith JL, Bi W, Schmitt S, Deb W, Nizon M, Mercier S, Vincent M, Rooryck C, Malan V, Briceño I, Gómez A, Nugent KM, Gibson JB, Cogné B, Lupski JR, Stessman HA, Eichler EE, Retterer K, Yang Y, Redon R, Katsanis N, Rosenfeld JA, Kloetzel PM, Golzio C, Bézieau S, Stankiewicz P, Isidor B. De Novo Disruption of the Proteasome Regulatory Subunit PSMD12 Causes a Syndromic Neurodevelopmental Disorder. Am J Hum Genet. 2017 Feb 2;100(2):352-363.

Benoist D, Dubes V, Roubertie F, Gilbert SH, Charron S, Constantin M, Elbes D, Vieillot D, Quesson B, Cochet H, Haïssaguerre M, Rooryck C, Bordachar P, Thambo JB, Bernus O. Proarrhythmic remodelling of the right ventricle in a porcine model of repaired tetralogy of Fallot. Heart. 2017 Mar;103(5):347-354.

Heide S, Keren B, Billette de Villemeur T, Chantot-Bastaraud S, Depienne C, Nava C, Mignot C, Jacquette A, Fonteneau E, Lejeune E, Mach C, Marey I, Whalen S, Lacombe D, Naudion S, Rooryck C, Toutain A, Caignec CL, Haye D, Olivier-Faivre L, Masurel-Paulet A, Thauvin-Robinet C, Lesne F, Faudet A, Ville D, des Portes V, Sanlaville D, Siffroi JP, Moutard ML, Héron D. Copy Number Variations Found in Patients with a Corpus Callosum Abnormality and Intellectual Disability. J Pediatr. 2017 Jun;185:160-166.

Trimouille A, Lasseaux E, Barat P, Deiller C, Drunat S, Rooryck C, Arveiler B, Lacombe D. Further delineation of the phenotype caused by biallelic variants in the WDR4 gene. Clin Genet. 2017 Jun 15;93:374 7.

Le Gall J, Nizon M, Pichon O, Andrieux J, Audebert-Bellanger S, Baron S, Beneteau C, Bilan F, Boute O, Busa T, Cormier-Daire V, Ferec C, Fradin M, Gilbert-Dussardier B, Jaillard S, Jønch A, Martin-Coignard D, Mercier S, Moutton S, Rooryck C, Schaefer E, Vincent M, Sanlaville D, Le Caignec C, Jacquemont S, David A, Isidor B. Sex chromosome aneuploidies and copy-number variants: a further explanation for neurodevelopmental prognosis variability? Eur J Hum Genet. 2017 Aug;25(8):930-934.

Berenguer M, Tingaud-Sequeira A, Colovati M, Melaragno MI, Bragagnolo S, Perez ABA, Arveiler B, Lacombe D, Rooryck C. A novel de novo mutation in MYT1, the unique OAVS gene identified so far. Eur J Hum Genet. 2017 Sep;25(9):1083-1086.

Vuillaume ML, Valard AG, Houcinat N, Bouron J, Boucher C, Deves S, Toutain J, Schaub B, Adenet C, Lacombe D, Gueneret M, Rooryck C. First female prenatal case of osteopathia striata with cranial sclerosis in a fetus carrying a de-novo 1.9 Mbp interstitial deletion at Xq11.1q11.2. Clin Dysmorphol. 2017 Oct;26(4):231-234.

Tabet AC, Rolland T, Ducloy M, Lévy J, Buratti J, Mathieu A, Haye D, Perrin L, Dupont C, Passemard S, Capri Y, Verloes A, Drunat S, Keren B, Mignot C, Marey I, Jacquette A, Whalen S, Pipiras E, Benzacken B, Chantot-Bastaraud S, Afenjar A, Héron D, Le Caignec C, Beneteau C, Pichon O, Isidor B, David A, El Khattabi L, Kemeny S, Gouas L, Vago P, Mosca-Boidron AL, Faivre L, Missirian C, Philip N, Sanlaville D, Edery P, Satre V, Coutton C, Devillard F, Dieterich K, Vuillaume ML, Rooryck C, Lacombe D, Pinson L, Gatinois V, Puechberty J, Chiesa J, Lespinasse J, Dubourg C, Quelin C, Fradin M, Journel H, Toutain A, Martin D, Benmansour A, Leblond CS, Toro R, Amsellem F, Delorme R, Bourgeron T. A framework to identify contributing genes in patients with Phelan-McDermid syndrome. NPJ Genom Med. 2017 Oct 23;2:32.

Sauvestre F, Marguet F, Rooryck C, Vuillaume ML, Cardinaud F, Laquerrière A, André G, Pelluard F. Early fetal presentation of Koolen-de Vries: Case report with literature review. Eur J Med Genet. 2017 Nov;60(11):605-609.

Genet N, Billaud M, Rossignol R, Dubois M, Gillibert-Duplantier J, Isakson BE, Marthan R, Savineau JP, Guibert C. Signaling Pathways Linked to Serotonin-Induced Superoxide Anion Production: A Physiological Role for Mitochondria in Pulmonary Arteries. Front Physiol. 2017 Feb 9;8:76.

Amoedo ND, Obre E, Rossignol R. Drug discovery strategies in the field of tumor energy metabolism: Limitations by metabolic flexibility and metabolic resistance to chemotherapy. Biochim Biophys Acta Bioenerg. 2017 Aug;1858(8):674-685.

Gasparre G, Rossignol R, Sonveaux P. Mitochondria in cancer. Biochim Biophys Acta Bioenerg. 2017 Aug;1858(8):553-555.

Hosseini M, Dousset L, Mahfouf W, Serrano-Sanchez M, Redonnet-Vernhet I, Mesli S, Kasraian Z, Obre E, Bonneu M, Claverol S, Vlaski M, Ivanovic Z, Rachidi W, Douki T, Taieb A, Bouzier-Sore AK, Rossignol R, Rezvani HR. Energy Metabolism Rewiring Precedes UVB-Induced Primary Skin Tumor Formation. Cell Rep. 2018 Jun 19;23(12):3621-3634. DOI: 10.1016/j.celrep.2018.05.060

2016

Bertolotti A, Lasseaux E, Plaisant C, Trimouille A, Morice-Picard F, Rooryck C, Lacombe D, Couppie P, Arveiler B. Identification of a homozygous mutation of SLC24A5 (OCA6) in two patients with oculocutaneous albinism from French Guiana. Pigment Cell Melanoma Res. 2016 Jan;29(1):104-6.

Goldman-Levy G, de la Fouchardiere A, Hamel CP, Lasseaux E, Yordanova Y, Guillot B, Bessis D, Pernet C, Frouin E, Boulle N, Haddad V, Pissaloux D, Costes V, Arveiler B, Rigau V. Primary leptomeningeal melanocytic tumour with a plaque-like blue nevus in a patient with ocular albinism. Eur J Dermatol. 2016 Oct 1;26(5):496-498.

Lopez E, Berenguer M, Tingaud-Sequeira A, Marlin S, Toutain A, Denoyelle F, Picard A, Charron S, Mathieu G, de Belvalet H, Arveiler B, Babin PJ, Lacombe D, Rooryck C. Mutations in MYT1, encoding the myelin transcription factor 1, are a rare cause of OAVS. J Med Genet. 2016 Nov;53(11):752-760.

Esteves A, Knoll-Gellida A, Canclini L, Silvarrey MC, André M, Babin PJ. Fatty acid-binding proteins have the potential to channel dietary fatty acids into enterocyte nuclei. Journal of Lipid Research 57, 219-232, 2016.

Ouadah-Boussouf N, Babin PJ. Pharmacological evaluation of the mechanisms involved in increased adiposity in live zebrafish triggered by the environmental contaminant tributyltin. Toxicology and Applied Pharmacology 294, 32-42, 2016.

Bénard G, Bezard E, Marsicano G, Pouvreau S. MitoBrain, Putting energy into the brain. Neurobiol Dis. 2016 Jun;90:1-2.

Hebert-Chatelain E, Desprez T, Serrat R, Bellocchio L, Soria-Gomez E, Busquets-Garcia A, Pagano Zottola AC, Delamarre A, Cannich A, Vincent P, Varilh M, Robin LM, Terral G, García-Fernández MD, Colavita M, Mazier W, Drago F, Puente N, Reguero L, Elezgarai I, Dupuy JW, Cota D, Lopez-Rodriguez ML, Barreda-Gómez G, Massa F, Grandes P, Bénard G, Marsicano G. A cannabinoid link between mitochondria and memory. Nature. 2016 Nov 24;539(7630):555-559.

Mendizabal-Zubiaga J, Melser S, Bénard G, Ramos A, Reguero L, Arrabal S, Elezgarai I, Gerrikagoitia I, Suarez J, Rodríguez De Fonseca F, Puente N, Marsicano G, Grandes P. Cannabinoid CB1 Receptors Are Localized in Striated Muscle Mitochondria and Regulate mitochondrial Respiration. Front Physiol. 2016 Oct 25;7:476.

Klionsky D et al. Guidelines for the use and interpretation of assays for monitoring autophagy (3rd edition). Autophagy. 2016;12(1):1-222.

Naudion S, Moutton S, Coupry I, Sole G, Deforges J, Guerineau E, Hubert C, Deves S, Pilliod J, Rooryck C, Abel C, Le Breton F, Collardeau-Frachon S, Cordier MP, Delezoide AL, Goldenberg A, Loget P, Melki J, Odent S, Patrier S, Verloes A, Viot G, Blesson S, Bessières B, Lacombe D, Arveiler B, Goizet C, Fergelot P. Fetal phenotypes in otopalatodigital spectrum disorders. Clin Genet. 2016 Mar;89(3):371-7.

Moutton S, Fergelot P, Naudion S, Cordier MP, Solé G, Guerineau E, Hubert C, Rooryck C, Vuillaume ML, Houcinat N, Deforges J, Bouron J, Devès S, Le Merrer M, David A, Geneviève D, Giuliano F, Journel H, Megarbane A, Faivre L, Chassaing N, Francannet C, Sarrazin E, Stattin EL, Vigneron J, Leclair D, Abadie C, Sarda P, Baumann C, Delrue MA, Arveiler B, Lacombe D, Goizet C, Coupry I. Otopalatodigital spectrum disorders: refinement of the phenotypic and mutational spectrum. J Hum Genet. 2016 Aug;61(8):693-9.

Hamon Y, Legowska M, Fergelot P, Dallet-Choisy S, Newell L, Vanderlynden L, Kord Valeshabad A, Acrich K, Kord H, Charalampos T, Morice-Picard F, Surplice I, Zoidakis J, David K, Vlahou A, Ragunatha S, Nagy N, Farkas K, Széll M, Goizet C, Schacher B, Battino M, Al Farraj Aldosari A, Wang X, Liu Y, Marchand-Adam S, Lesner A, Kara E, Korkmaz-Icöz S, Moss C, Eickholz P, Taieb A, Kavukcu S, Jenne
DE, Gauthier F, Korkmaz B. Analysis of urinary cathepsin C for diagnosing Papillon-Lefèvre syndrome. FEBS J. 2016 Feb;283(3):498-509.

Menke LA, van Belzen MJ, Alders M, Cristofoli F; DDD Study, Ehmke N, Fergelot P, Foster A, Gerkes EH, Hoffer MJ, Horn D, Kant SG, Lacombe D, Leon E, Maas SM, Melis D, Muto V, Park SM, Peeters H, Peters DJ, Pfundt R, van Ravenswaaij-Arts CM, Tartaglia M, Hennekam RC. CREBBP mutations in individuals without Rubinstein-Taybi syndrome phenotype. Am J Med Genet A. 2016 Oct;170(10):2681-93.

Fergelot P, Van Belzen M, Van Gils J, Afenjar A, Armour CM, Arveiler B, Beets L, Burglen L, Busa T, Collet M, Deforges J, de Vries BB, Dominguez Garrido E, Dorison N, Dupont J, Francannet C, Garciá-Minaúr S, Gabau Vila E, Gebre-Medhin S, Gener Querol B, Geneviève D, Gérard M, Gervasini CG, Goldenberg A, Josifova D, Lachlan K, Maas S, Maranda B, Moilanen JS, Nordgren A, Parent P, Rankin J, Reardon W, Rio M, Roume J, Shaw A, Smigiel R, Sojo A, Solomon B, Stembalska A, Stumpel C, Suarez F, Terhal P, Thomas S, Touraine R, Verloes A, Vincent-Delorme C, Wincent J, Peters DJ, Bartsch O, Larizza L, Lacombe D, Hennekam RC. Phenotype and genotype in 52 patients with Rubinstein-Taybi syndrome caused by EP300 mutations. Am J Med Genet A. 2016 Dec;170(12):3069-3082.

Garaude J., Acín-Pérez R., Martínez-Cano S.,Enamorado M., Ugolini M., Nistal-Villán E., Hervás-Stubbs S, Pelegrín P., Sander L.E., Enríquez J.A., Sancho D.. Mitochondrial respiratory-chain adaptions in macrophages contribute to antibacterial host defence. Nature Immunology, 2016.

Vincent M, Geneviève D, Ostertag A, Marlin S, Lacombe D, Martin-Coignard D, Coubes C, David A, Lyonnet S, Vilain C, Dieux-Coeslier A, Manouvrier S, Isidor B, Jacquemont ML, Julia S, Layet V, Naudion S, Odent S, Pasquier L, Pelras S, Philip N, Pierquin G, Prieur F, Aboussair N, Attie-Bitach T, Baujat G, Blanchet P, Blanchet C, Dollfus H, Doray B, Schaefer E, Edery P, Giuliano F, Goldenberg A, Goizet C, Guichet A, Herlin C, Lambert L, Leheup B, Martinovic J, Mercier S, Mignot C, Moutard ML, Perez MJ, Pinson L, Puechberty J, Willems M, Randrianaivo H, Szaskon K, Toutain A, Verloes A, Vigneron J, Sanchez E, Sarda P, Laplanche JL, Collet C. Treacher Collins syndrome: a clinical and molecular study based on a large series of patients. Genet. Med. 2016, 18 : 49-56.

Lecocq C, Charles P, Azulay JP, Meissner W, Rai M, N’Guyen K, Péréon Y, Fabre N, Robin E, Courtois S, Guyant-Maréchal L, Zagnoli F, Rudolf G, Renaud M, Sévin-Allouet M, Lesne F, Alaerts N, Goizet C, Calvas P, Eusebio A, Guissart C, Derkinderen P, Tison F, Brice A, Koenig M, Pandolfo M, Tranchant C, Dürr A, Anheim M. Delayed-onset Friedreich’s ataxia revisited. Mov. Disord. 2016, 31 : 62-9.

Vallat JM, Goizet C, Magy L, Mathis S. Too many numbers and complexity: time to update the classifications of neurogenetic disorders? J. Med. Genet. 2016, 53 : 647-50.

Hamon Y, Legowska M, Fergelot P, Dallet-Choisy S, Newell L, Vanderlynden L, Kord Valeshabad A, Acrich K, Kord H, Charalampos T, Morice-Picard F, Surplice I, Zoidakis J, David K, Vlahou A, Ragunatha S, Nagy N, Farkas K, Széll M, Goizet C, Schacher B, Battino M, Al Farraj Aldosari A, Wang X, Liu Y, Marchand-Adam S, Lesner A, Kara E, Korkmaz-Icöz S, Moss C, Eickholz P, Taieb A, Kavukcu S, Jenne DE, Gauthier F, Korkmaz B. Analysis of urinary cathepsin C for diagnosing Papillon-Lefèvre syndrome. FEBS. J. 2016, 283 : 498-509.

Le Guennec K, Nicolas G, Quenez O, Charbonnier C, Wallon D, Bellenguez C, Grenier-Boley B, Rousseau S, Richard AC, Rovelet-Lecrux A, Bacq D, Garnier JG, Olaso R, Boland A, Meyer V, Deleuze JF, Amouyel P, Munter HM, Bourque G, Lathrop M, Frebourg T, Redon R, Letenneur L, Dartigues JF, Pasquier F, Rollin-Sillaire A, Génin E, Lambert JC, Hannequin D, Campion D; CNR-MAJ collaborators (including Goizet C). ABCA7 rare variants and Alzheimer disease risk. Neurology 2016, 86 : 2134-7.

Bettencourt C, Moss DH, Flower M, Wiethoff S, Brice A, Goizet C, Stevanin G, Koutsis G, Karadima G, Panas M, Yescas-Gómez P, García-Velázquez LE, Alonso-Vilatela ME, Lima M, Raposo M, Traynor B, Sweeney M, Wood N, Giunti P; SPATAX network, Durr A, Holmans P, Houlden H, Tabrizi SJ, Jones L. DNA repair pathways underlie a common genetic mechanism modulating onset in polyglutamine diseases. Ann. Neurol. 2016, 79 : 983-90.

Vallat JM, Goizet C, Tazir M, Couratier P, Magy L, Mathis S. Classifications of neurogenetic diseases: An increasingly complex problem. Rev. Neurol. (Paris) 2016, 172 : 339-49.

Politei JM, Bouhassira D, Germain DP, Goizet C, Guerrero-Sola A, Hilz MJ, Hutton EJ, Karaa A, Liguori R, Üçeyler N, Zeltzer LK, Burlina A. Pain in Fabry Disease: Practical Recommendations for Diagnosis and Treatment. CNS Neurosci. Ther. 2016, 22 : 568-76.

Vanier MT, Gissen P, Bauer P, Coll MJ, Burlina A, Hendriksz CJ, Latour P, Goizet C, Welford RW, Marquardt T, Kolb SA. Diagnostic tests for Niemann-Pick disease type C (NP-C): A critical review. Mol. Genet. Metab. 2016, 118 : 244-54.

Cubo E, Ramos-Arroyo MA, Martinez-Horta S, Martínez-Descalls A, Calvo S, Gil-Polo C; European HD Network. Clinical manifestations of intermediate allele carriers in Huntington disease. Neurology 2016, 87 : 571-8

Mathis S, Goizet C, Tazir M, Magy L, Vallat JM. Reasons Charcot-Marie-Tooth disease due to mutations in the MME gene should not be named AR-CMT2T. Ann. Neurol. 2016, 80 : 477.

Marelli C, Guissart C, Hubsch C, Renaud M, Villemin JP, Larrieu L, Charles P, Ayrignac X, Sacconi S, Collignon P, Cuntz-Shadfar D, Perrin L, Benarrosh A, Degardin A, Lagha-Boukbiza O, Mutez E, Carlander B, Morales RJ, Gonzalez V, Carra-Dalliere C, Azakri S, Mignard C, Ollagnon E, Pageot N, Chretien D, Geny C, Azulay JP, Tranchant C, Claustres M, Labauge P, Anheim M, Goizet C, Calvas P, Koenig M. Mini-Exome Coupled to Read-Depth Based Copy Number Variation Analysis in Patients with Inherited Ataxias. Hum. Mutat. 2016, 37 : 1340-1353.

Lerat J, Jonard L, Loundon N, Christin-Maitre S, Lacombe D, Goizet C, Rouzier C, Van Maldergem L, Gherbi S, Garabedian EN, Bonnefont JP, Touraine P, Mosnier I, Munnich A, Denoyelle F, Marlin S. An Application of NGS for Molecular Investigations in Perrault Syndrome: Study of 14 Families and Review of the Literature. Hum. Mutat. 2016, 37 : 1354-1362.

de Diego-Balaguer R, Schramm C, Rebeix I, Dupoux E, Durr A, Brice A, Charles P, Cleret de Langavant L, Youssov K, Verny C, Damotte V, Azulay JP, Goizet C, Simonin C, Tranchant C, Maison P, Rialland A, Schmitz D, Jacquemot C, Fontaine B, Bachoud-Lévi AC; French Speaking Huntington Group. COMT Val158Met Polymorphism Modulates Huntington’s Disease Progression. PLoS One 2016, 11 : e0161106.

El Chehadeh S, Faivre L, Mosca-Boidron AL, Malan V, Amiel J, Nizon M, Touraine R, Prieur F, Pasquier L, Callier P, Lefebvre M, Marle N, Dubourg C, Julia S, Sarret C, Francannet C, Laffargue F, Boespflug-Tanguy O, David A, Isidor B, Le Caignec C, Vigneron J, Leheup B, Lambert L, Philippe C, Cuisset JM, Andrieux J, Plessis G, Toutain A, Goldenberg A, Cormier-Daire V, Rio M, Bonnefont JP, Thevenon J, Echenne B, Journel H, Afenjar A, Burglen L, Bienvenu T, Addor MC, Lebon S, Martinet D, Baumann C, Perrin L, Drunat S, Jouk PS, Devillard F, Coutton C, Lacombe D, Delrue MA, Philip N, Moncla A, Badens C, Perreton N, Masurel A, Thauvin-Robinet C, Portes VD, Guibaud L. Large national series of patients with Xq28 duplication involving MECP2: Delineation of brain MRI abnormalities in 30 affected patients. Am J Med Genet A. 2016 Jan;170(1):116-29.

D’Angelo D, Lebon S, Chen Q, Martin-Brevet S, Snyder LG, Hippolyte L, Hanson E, Maillard AM, Faucett WA, Macé A, Pain A, Bernier R, Chawner SJ, David A, Andrieux J, Aylward E, Baujat G, Caldeira I, Conus P, Ferrari C, Forzano F, Gérard M, Goin-Kochel RP, Grant E, Hunter JV, Isidor B, Jacquette A, Jønch AE, Keren B, Lacombe D, Le Caignec C, Martin CL, Männik K, Metspalu A, Mignot C, Mukherjee P, Owen MJ, Passeggeri M, Rooryck-Thambo C, Rosenfeld JA, Spence SJ, Steinman KJ, Tjernagel J, Van Haelst M, Shen Y, Draganski B, Sherr EH, Ledbetter DH, van den Bree MB, Beckmann JS, Spiro JE, Reymond A, Jacquemont S, Chung WK; Cardiff University Experiences of Children With Copy Number Variants (ECHO) Study, the 16p11.2 European Consortium, and the Simons Variation in Individuals Project (VIP) Consortium. Defining the Effect of the 16p11.2 Duplication on Cognition, Behavior, and Medical Comorbidities. JAMA Psychiatry. 2016 Jan 1;73(1):20-30.

Chassaing N, Davis EE, McKnight KL, Niederriter AR, Causse A, David V, Desmaison A, Lamarre S, Vincent-Delorme C, Pasquier L, Coubes C, Lacombe D, Rossi M, Dufier JL, Dollfus H, Kaplan J, Katsanis N, Etchevers HC, Faguer S, Calvas P. Targeted resequencing identifies PTCH1 as a major contributor to ocular developmental anomalies and extends the SOX2 regulatory network. Genome Res. 2016 Apr;26(4):474-85.

Schaefer E, Stoetzel C, Scheidecker S, Geoffroy V, Prasad MK, Redin C, Missotte I, Lacombe D, Mandel JL, Muller J, Dollfus H. Identification of a novel mutation confirms the implication of IFT172 (BBS20) in Bardet-Biedl syndrome. J Hum Genet. 2016 May;61(5):447-50.

Cessans C, Ehlinger V, Arnaud C, Yart A, Capri Y, Barat P, Cammas B, Lacombe D, Coutant R, David A, Baron S, Weill J, Leheup B, Nicolino M, Salles JP, Verloes A, Tauber M, Cavé H, Edouard T. Growth patterns of patients with Noonan syndrome: correlation with age and genotype. Eur J Endocrinol. 2016 May;174(5):641-50.

Cavé H, Caye A, Ghedira N, Capri Y, Pouvreau N, Fillot N, Trimouille A, Vignal C, Fenneteau O, Alembik Y, Alessandri JL, Blanchet P, Boute O, Bouvagnet P, David A, Dieux Coeslier A, Doray B, Dulac O, Drouin-Garraud V, Gérard M, Héron D, Isidor B, Lacombe D, Lyonnet S, Perrin L, Rio M, Roume J, Sauvion S, Toutain A, Vincent-Delorme C, Willems M, Baumann C, Verloes A. Mutations in RIT1 cause Noonan syndrome with possible juvenile myelomonocytic leukemia but are not involved in acute lymphoblastic leukemia. Eur J Hum Genet. 2016 Aug;24(8):1124-31.

Bögershausen N, Gatinois V, Riehmer V, Kayserili H, Becker J, Thoenes M, Simsek-Kiper PÖ, Barat-Houari M, Elcioglu NH, Wieczorek D, Tinschert S, Sarrabay G, Strom TM, Fabre A, Baynam G, Sanchez E, Nürnberg G, Altunoglu U, Capri Y, Isidor B, Lacombe D, Corsini C, Cormier-Daire V, Sanlaville D, Giuliano F, Le Quan Sang KH, Kayirangwa H, Nürnberg P, Meitinger T, Boduroglu K, Zoll B, Lyonnet S, Tzschach A, Verloes A, Di Donato N, Touitou I, Netzer C, Li Y, Geneviève D, Yigit G, Wollnik B. Mutation Update for Kabuki Syndrome Genes KMT2D and KDM6A and Further Delineation of X-Linked Kabuki Syndrome Subtype 2. Hum Mutat. 2016 Sep;37(9):847-64.

Amoedo ND, Punzi G, Obre E, Lacombe D, De Grassi A, Pierri CL, Rossignol R. AGC1/2, the mitochondrial aspartate-glutamate carriers. Biochim Biophys Acta. 2016 Oct;1863(10):2394-412.

Tlemsani C, Luscan A, Leulliot N, Bieth E, Afenjar A, Baujat G, Doco-Fenzy M, Goldenberg A, Lacombe D, Lambert L, Odent S, Pasche J, Sigaudy S, Buffet A, Violle-Poirsier C, Briand-Suleau A, Laurendeau I, Chin M, Saugier-Veber P, Vidaud D, Cormier-Daire V, Vidaud M, Pasmant E, Burglen L. SETD2 and DNMT3A screen in the Sotos-like syndrome French cohort. J Med Genet. 2016 Nov;53(11):743-751.

Mignot C, Moutard ML, Rastetter A, Boutaud L, Heide S, Billette T, Doummar D, Garel C, Afenjar A, Jacquette A, Lacombe D, Verloes A, Bole-Feysot C, Nitschké P, Masson C, Faudet A, Lesne F, Bienvenu T, Alby C, Attié-Bitach T, Depienne C, Nava C, Héron D. ARID1B mutations are the major genetic cause of corpus callosum anomalies in patients with intellectual disability. Brain. 2016 Nov 1;139(11):e64.

Margot H, Geneviève D, Gatinois V, Arveiler B, Moutton S, Touitou I, Lacombe D. Typical facial gestalt in X-linked Kabuki syndrome. Am J Med Genet A. 2016 Dec;170(12):3363-3364.

Sellem CH, di Rago JP, Lasserre JP, Ackerman SH, Sainsard-Chanet A. (2016) Regulation of Aerobic Energy Metabolism in Podospora anserina by Two Paralogous Genes Encoding Structurally Different c-Subunits of ATP Synthase. PLoS Genet. 12(7):e1006161.

Niedzwiecka K, Kabala AM, Lasserre JP, Tribouillard-Tanvier D, Golik P, Dautant A, di Rago JP, Kucharczyk R. (2016) Yeast models of mutations in the mitochondrial ATP6 gene found in human cancer cells. Mitochondrion. 29:7-17.

Beaumatin F, El Dhaybi M, Lasserre JP, Salin B, Moyer MP, Verdier M, Manon S, Priault M. (2016) N52 monodeamidated Bcl‑xL shows impaired oncogenic properties in vivo and in vitro. Oncotarget. 7(13):17129-43.

Flöttmann R, Sowinska-Seidler A, Lavie J, Chateil JF, Lacombe D, Mundlos S, Horn D, Spielmann M. Duplication of PTHLH causes osteochondroplasia with a combined brachydactyly type E/A1 phenotype with disturbed bone maturation and rhizomelia. Eur J Hum Genet. 2016 Aug;24(8):1132-6.

Carrozzo R, Verrigni D, Rasmussen M, de Coo R, Amartino H, Bianchi M, Buhas D, Mesli S, Naess K, Born AP, Woldseth B, Prontera P, Batbayli M, Ravn K, Joensen F, Cordelli DM, Santorelli FM, Tulinius M, Darin N, Duno M, Jouvencel P, Burlina A, Stangoni G, Bertini E, Redonnet-Vernhet I, Wibrand F, Dionisi-Vici C, Uusimaa J, Vieira P, Osorio AN, McFarland R, Taylor RW, Holme E, Ostergaard E. Succinate-CoA ligase deficiency due to mutations in SUCLA2 and SUCLG1: phenotype and genotype correlations in 71 patients. J Inherit Metab Dis. 2016 Mar;39(2):243-52.

Fossard G, Blond E, Balsat M, Morisset S, Giraudier S, Escoffre-Barbe M, Labussière-Wallet H, Heiblig M, Bert A, Etienne M, Drai J, Sobh M, Redonnet-Vernhet I, Lega JC, Mahon FX, Etienne G, Nicolini FE. Hyperhomocysteinemia and high doses of nilotinib favor cardiovascular events in chronic phase Chronic Myelogenous Leukemia patients. Haematologica. 2016 Mar;101(3):e86-90.

Treiber G, Baillet-Blanco L, Hugo M, Pupier E, Redonnet-Vernhet I, Cambos S, Rigalleau V. Comment on Almurdhi et al. Reduced Lower-Limb Muscle Strength and Volume in Patients With Type 2 Diabetes in Relation to Neuropathy, Intramuscular Fat, and Vitamin D Levels. Diabetes Care 2016;39:441-447. Diabetes Care. 2016 Oct;39(10):e183.

Morice-Picard F, Bénard G, Rezvani HR, Lasseaux E, Simon D, Moutton S, Rooryck C, Lacombe D, Baumann C, Arveiler B. Complete loss of function of the ubiquitin ligase HERC2 causes a severe neurodevelopmental phenotype. Eur J Hum Genet. 2016 Jan;25(1):52-58.

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