2022

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

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

Perrin-Cocon L, Vidalain PO, Jacquemin C, Aublin-Gex A, Olmstead K, Panthu B, Rautureau GJP, André P, Nyczka P, Hütt MT, Amoedo N, Rossignol R, Filipp FV, Lotteau V, Diaz O. A hexokinase isoenzyme switch in human liver cancer cells promotes lipogenesis and enhances innate immunity. Commun Biol 2021 Feb 16;4(1):217. DOI: 10.1038/s42003-021-01749-3

Esteves P, Blanc L, Celle A, Dupin I, Maurat E, Amoedo N, Cardouat G, Ousova O, Gales L, Bellvert F, Begueret H, Thumerel M, Dupuy JW, Desbenoit N, Marthan R, Girodet PO, Rossignol R, Berger P, Trian T. Crucial role of fatty acid oxidation in asthmatic bronchial smooth muscle remodelling. Eur Respir J. 2021 Nov 25;58(5):2004252. DOI: 10.1183/13993003.04252-2020

Roux-Levy PH, Sanlaville D, De Freminville B, Touraine R, Masurel A, Gueneau I, Cotinaud-Ricou A, Chancenotte S, Debomy F, Minot D, Bournez M, Rousseau I, Daniel S, Gautier E, Lacombe D, Taupiac E, Odent S, Mikaty M, Manouvrier S, Ghoumid J, Geneviève D, Lehman N, Busa T, Edery CP, Cornaton J, Gallard J, Héron D, Rastel C, Thauvin-Robinet C, Verloes A, Binquet C, Faivre L, Lejeune C. Care management in a French cohort with Down syndrome from the AnDDI-Rares/CNSA study. Eur J Med Genet. 2021 Oct;64(10):104290. DOI: 10.1016/j.ejmg.2021.104290

Palmer EE, Whitton C, Hashem MO, Clark RD, Ramanathan S, Starr LJ, Velasco D, De Dios JK, Singh E, Cormier-Daire V, Chopra M, Rodan LH, Nellaker C, Lakhani S, Mallack EJ, Panzer K, Sidhu A, Wentzensen IM, Lacombe D, Michaud V, Alkuraya FS. CHEDDA syndrome is an underrecognized neurodevelopmental disorder with a highly restricted ATN1 mutation spectrum. Clin Genet. 2021 Oct;100(4):468-477. DOI: 10.1111/cge.14022

Riccardi F, Astier A, Grisval M, Maillard A, Michaud V, Badens C, Gordon CT, Trimouille A, Faivre L, Amiel J, Sigaudy S, Gorokhova S. Correspondence on “De novo variants in MED12 cause X-linked syndromic neurodevelopmental disorders in 18 females” by Polla et al. Genet Med. 2021 Oct;23(10):2003-2004. DOI: 10.1038/s41436-021-01208-8

Roux T, Barbier M, Papin M, Davoine CS, Sayah S, Coarelli G, Charles P, Marelli C, Parodi L, Tranchant C, Goizet C, Klebe S, Lohmann E, Van Maldergem L, van Broeckhoven C, Coutelier M, Tesson C, Stevanin G, Duyckaerts C, Brice A, Durr A; SPATAX network. Correction: Clinical, neuropathological, and genetic characterization of STUB1 variants in cerebellar ataxias: a frequent cause of predominant cognitive impairment. Genet Med. 2021 Oct;23(10):2021. DOI: 10.1038/s41436-020-01064-y

Schüle R, Timmann D, Erasmus CE, Reichbauer J, Wayand M; Solve-RD-DITF-RND, van de Warrenburg B, Schöls L, Wilke C, Bevot A, Zuchner S, Beltran S, Laurie S, Matalonga L, Graessner H, Synofzik M; Solve-RD Consortium. Correction: Solving unsolved rare neurological diseases-a Solve-RD viewpoint. Eur J Hum Genet. 2021 Sep;29(9):1462-1465. DOI: 10.1038/s41431-021-00935-5

de Boer E, Ockeloen CW, Matalonga L, Horvath R; Solve-RD SNV-indel working group, Rodenburg RJ, Coenen MJH, Janssen M, Henssen D, Gilissen C, Steyaert W, Paramonov I; Solve-RD-DITF-ITHACA, Trimouille A, Kleefstra T, Verloes A, Vissers LELM. Correction: A MT-TL1 variant identified by whole exome sequencing in an individual with intellectual disability, epilepsy, and spastic tetraparesis. Eur J Hum Genet. 2021 Sep;29(9):1470-1471. DOI: 10.1038/s41431-021-00937-3

Zurek B, Ellwanger K, Vissers LELM, Schüle R, Synofzik M, Töpf A, de Voer RM, Laurie S, Matalonga L, Gilissen C, Ossowski S, ‘t Hoen PAC, Vitobello A, Schulze-Hentrich JM, Riess O, Brunner HG, Brookes AJ, Rath A, Bonne G, Gumus G, Verloes A, Hoogerbrugge N, Evangelista T, Harmuth T, Swertz M, Spalding D, Hoischen A, Beltran S, Graessner H; Solve-RD consortium. Correction to: Solve-RD: systematic pan-European data sharing and collaborative analysis to solve rare diseases. Eur J Hum Genet. 2021 Sep;29(9):1459-1461. DOI: 10.1038/s41431-021-00936-4

Matalonga L, Hernández-Ferrer C, Piscia D; Solve-RD SNV-indel working group, Schüle R, Synofzik M, Töpf A, Vissers LELM, de Voer R; Solve-RD DITF-GENTURIS; Solve-RD DITF-ITHACA; Solve-RD DITF-euroNMD; Solve-RD DITF-RND, Tonda R, Laurie S, Fernandez-Callejo M, Picó D, Garcia-Linares C, Papakonstantinou A, Corvó A, Joshi R, Diez H, Gut I, Hoischen A, Graessner H, Beltran S; Solve-RD Consortium. Correction to: Solving patients with rare diseases through programmatic reanalysis of genome-phenome data. Eur J Hum Genet. 2021 Sep;29(9):1466-1469. DOI: 10.1038/s41431-021-00934-6

Harly C, Joyce SP, Domblides C, Bachelet T, Pitard V, Mannat C, Pappalardo A, Couzi L, Netzer S, Massara L, Obre E, Hawchar O, Lartigue L, Claverol S, Cano C, Moreau JF, Mahouche I, Soubeyran I, Rossignol R, Viollet B, Willcox CR, Mohammed F, Willcox BE, Faustin B, Déchanet-Merville J. Human γδ T cell sensing of AMPK-dependent metabolic tumor reprogramming through TCR recognition of EphA2. Sci Immunol. 2021 Jul 30;6(61):eaba9010. DOI: 10.1126/sciimmunol.aba9010

Moreno-Artero E, Morice-Picard F, Bremond-Gignac D, Drumare-Bouvet I, Duncombe-Poulet C, Leclerc-Mercier S, Dufresne H, Kaplan J, Jouanne B, Arveiler B, Taieb A, Hadj-Rabia S. Management of albinism: French guidelines for diagnosis and care. J Eur Acad Dermatol Venereol. 2021 Jul;35(7):1449-1459. DOI: 10.1111/jdv.17275

Angelini C, Goizet C, Said SA, Camu W, Depienne C, Heron B, Kol B, Guillaud-Bataille M, Pennamen P, Rooryck C, Scherer-Gagou C, Tissier L, Stevanin G, Leguern E, Banneau G. Evidence of mosaicism in SPAST variant carriers in four French families. Eur J Hum Genet. 2021 Jul;29(7):1158-1163. DOI: 10.1038/s41431-021-00847-4

Pacot L, Vidaud D, Sabbagh A, Laurendeau I, Briand-Suleau A, Coustier A, Maillard T, Barbance C, Morice-Picard F, Sigaudy S, Glazunova OO, Damaj L, Layet V, Quelin C, Gilbert-Dussardier B, Audic F, Dollfus H, Guerrot AM, Lespinasse J, Julia S, Vantyghem MC, Drouard M, Lackmy M, Leheup B, Alembik Y, Lemaire A, Nitschké P, Petit F, Dieux Coeslier A, Mutez E, Taieb A, Fradin M, Capri Y, Nasser H, Ruaud L, Dauriat B, Bourthoumieu S, Geneviève D, Audebert-Bellanger S, Nizon M, Stoeva R, Hickman G, Nicolas G, Mazereeuw-Hautier J, Jannic A, Ferkal S, Parfait B, Vidaud M, Members Of The Nf France Network, Wolkenstein P, Pasmant E. Severe Phenotype in Patients with Large Deletions of NF1. Cancers (Basel). 2021 Jun 13;13(12):2963. DOI: 10.3390/cancers13122963

Elalaoui SC, Smaili W, Van-Gils J, Fergelot P, Ratbi I, Tajir M, Arveiler B, Lacombe D, Sefiani A. Clinical description and mutational profile of a Moroccan series of patients with Rubinstein Taybi syndrome. Afr Health Sci. 2021 Jun;21(2):960-967. DOI: 10.4314/ahs.v21i2.58

Carlier J, Robin F, Pages N, Quinart A, Roy M, Pauchard JC, Quintana I, Nouette-Gaulain K. Pain evaluation after day-surgery using a mobile phone application. Anaesth Crit Care Pain Med. 2021 Jun;40(3):100879. DOI: 10.1016/j.accpm.2021.100879

Tingaud-Sequeira A, Trimouille A, Salaria M, Stapleton R, Claverol S, Plaisant C, Bonneu M, Lopez E, Arveiler B, Lacombe D, Rooryck C. A recurrent missense variant in EYA3 gene is associated with oculo-auriculo-vertebral spectrum. Hum Genet. 2021 Jun;140(6):933-944. DOI: 10.1007/s00439-021-02255-6

Legrand A, Pujol C, Durand CM, Mesnil A, Rubera I, Duranton C, Zuily S, Sousa AB, Renaud M, Boucher JL, Pietrancosta N, Adham S, Orssaud C, Marelli C, Casali C, Ziccardi L, Villain N, Ewenczyk C, Durr A, Mignot C, Stevanin G, Billon C, Hureaux M, Jeunemaitre X, Goizet C, Albuisson J. Pseudoxanthoma elasticum overlaps hereditary spastic paraplegia type 56. J Intern Med. 2021 May;289(5):709-725. DOI: 10.1111/joim.13193

Garde A, Guibaud L, Goldenberg A, Petit F, Dard R, Roume J, Mazereeuw-Hautier J, Chassaing N, Lacombe D, Morice-Picard F, Toutain A, Arpin S, Boccara O, Touraine R, Blanchet P, Coubes C, Willems M, Pinson L, Van Kien PK, Chiaverini C, Giuliano F, Alessandri JL, Mathieu-Dramard M, Morin G, Bursztejn AC, Mignot C, Doummar D, Di Rocco F, Cornaton J, Nicolas C, Gautier E, Luu M, Bardou M, Sorlin A, Philippe C, Edery P, Rossi M, Carmignac V, Thauvin-Robinet C, Vabres P, Faivre L. Clinical and neuroimaging findings in 33 patients with MCAP syndrome: A survey to evaluate relevant endpoints for future clinical trials. Clin Genet. 2021 May;99(5):650-661. DOI: 10.1111/cge.13918

Marelli C, Lavigne C, Stepien KM, Janssen MCH, Feillet F, Kožich V, Jesina P, Schule R, Kessler C, Redonnet-Vernhet I, Regnier A, Burda P, Baumgartner M, Benoist JF, Huemer M, Mochel F; E-HOD Consortium. Clinical and molecular characterization of adult patients with late-onset MTHFR deficiency. J Inherit Metab Dis. 2021 May;44(3):777-786. DOI: 10.1002/jimd.12323

Sant’Anna-Silva ACB, Perez-Valencia JA, Sciacovelli M, Lalou C, Sarlak S, Tronci L, Nikitopoulou E, Meszaros AT, Frezza C, Rossignol R, Gnaiger E, Klocker H. Succinate Anaplerosis Has an Onco-Driving Potential in Prostate Cancer Cells. Cancers (Basel). 2021 Apr 6;13(7):1727. DOI: 10.3390/cancers13071727

Angelini C, Trimouille A, Arveiler B, Espil-Taris C, Ichinose N, Lasseaux E, Tourdias T, Lacombe D. CHN1 and duane retraction syndrome: Expanding the phenotype to cranial nerves development disease. Eur J Med Genet. 2021 Apr;64(4):104188. DOI: 10.1016/j.ejmg.2021.104188

Méreaux JL, Firanescu C, Coarelli G, Kvarnung M, Rodrigues R, Pegoraro E, Tazir M, Taithe F, Valter R, Huin V, Lidström K, Banneau G, Morais S, Parodi L, Coutelier M, Papin M, Svenningsson P, Azulay JP, Alonso I, Nilsson D, Brice A, Le Guern E, Press R, Vazza G, Loureiro JL, Goizet C, Durr A, Paucar M, Stevanin G. Increasing involvement of CAPN1 variants in spastic ataxias and phenotype-genotype correlations. Neurogenetics. 2021 Mar;22(1):71-79. DOI: 10.1007/s10048-020-00633-2

Pennamen P, Tingaud-Sequeira A, Gazova I, Keighren M, McKie L, Marlin S, Gherbi Halem S, Kaplan J, Delevoye C, Lacombe D, Plaisant C, Michaud V, Lasseaux E, Javerzat S, Jackson I, Arveiler B. Dopachrome tautomerase variants in patients with oculocutaneous albinism. Genet Med. 2021 Mar;23(3):479-487. DOI: 10.1038/s41436-020-00997-8

Pelletier F, Perrier S, Cayami FK, Mirchi A, Saikali S, Tran LT, Ulrick N, Guerrero K, Rampakakis E, van Spaendonk RML, Naidu S, Pohl D, Gibson WT, Demos M, Goizet C, Tejera-Martin I, Potic A, Fogel BL, Brais B, Sylvain M, Sébire G, Lourenço CM, Bonkowsky JL, Catsman-Berrevoets C, Pinto PS, Tirupathi S, Strømme P, de Grauw T, Gieruszczak-Bialek D, Krägeloh-Mann I, Mierzewska H, Philippi H, Rankin J, Atik T, Banwell B, Benko WS, Blaschek A, Bley A, Boltshauser E, Bratkovic D, Brozova K, Cimas I, Clough C, Corenblum B, Dinopoulos A, Dolan G, Faletra F, Fernandez R, Fletcher J, Garcia Garcia ME, Gasparini P, Gburek-Augustat J, Gonzalez Moron D, Hamati A, Harting I, Hertzberg C, Hill A, Hobson GM, Innes AM, Kauffman M, Kirwin SM, Kluger G, Kolditz P, Kotzaeridou U, La Piana R, Liston E, McClintock W, McEntagart M, McKenzie F, Melançon S, Misbahuddin A, Suri M, Monton FI, Moutton S, Murphy RPJ, Nickel M, Onay H, Orcesi S, Özkınay F, Patzer S, Pedro H, Pekic S, Pineda Marfa M, Pizzino A, Plecko B, Poll-The BT, Popovic V, Rating D, Rioux MF, Rodriguez Espinosa N, Ronan A, Ostergaard JR, Rossignol E, Sanchez-Carpintero R, Schossig A, Senbil N, Sønderberg Roos LK, Stevens CA, Synofzik M, Sztriha L, Tibussek D, Timmann D, Tonduti D, van de Warrenburg BP, Vázquez-López M, Venkateswaran S, Wasling P, Wassmer E, Webster RI, Wiegand G, Yoon G, Rotteveel J, Schiffmann R, van der Knaap MS, Vanderver A, Martos-Moreno GÁ, Polychronakos C, Wolf NI, Bernard G. Endocrine and Growth Abnormalities in 4H Leukodystrophy Caused by Variants in POLR3A, POLR3B, and POLR1C. J Clin Endocrinol Metab. 2021 Jan 23;106(2):e660-e674. DOI: 10.1210/clinem/dgaa700

Amoedo ND, Sarlak S, Obre E, Esteves P, Bégueret H, Kieffer Y, Rousseau B, Dupis A, Izotte J, Bellance N, Dard L, Redonnet-Vernhet I, Punzi G, Rodrigues MF, Dumon E, Mafhouf W, Guyonnet-Dupérat V, Gales L, Palama T, Bellvert F, Dugot-Senan N, Claverol S, Baste JM, Lacombe D, Rezvani HR, Pierri CL, Mechta-Grigoriou F, Thumerel M, Rossignol R. Targeting the mitochondrial trifunctional protein restrains tumor growth in oxidative lung carcinomas. J Clin Invest. 2021 Jan 4;131(1):e133081. DOI: 10.1172/JCI133081

Germain DP, Levade T, Hachulla E, Knebelmann B, Lacombe D, Seguin VL, Nguyen K, Noël E, Rabès JP. Challenging the traditional approach for interpreting genetic variants: Lessons from Fabry disease. Clin Genet. 2021 Dec 20. DOI: 10.1111/cge.14102

Rouxel F, Yauy K, Boursier G, Gatinois V, Barat-Houari M, Sanchez E, Lacombe D, Arpin S, Giuliano F, Haye D, Rio M, Toutain A, Dieterich K, Brischoux-Boucher E, Julia S, Nizon M, Afenjar A, Keren B, Jacquette A, Moutton S, Jacquemont ML, Duflos C, Capri Y, Amiel J, Blanchet P, Lyonnet S, Sanlaville D, Genevieve D. Using deep-neural-network-driven facial recognition to identify distinct Kabuki syndrome 1 and 2 gestalt. Eur J Hum Genet. 2021 Nov 22. DOI: 10.1038/s41431-021-00994-8

Giguet-Valard AG, Bellance R, Jeannin S, Duclos S, Olive P, Allard-Saint-Albin O, Cazeneuve C, Clot F, Sophie PV, Barnetche T, Smith-Ravin J, Goizet C. SOD1-related ALS with anticipation in a large family from Martinique. Amyotroph Lateral Scler Frontotemporal Degener. 2021 Nov;22(7-8):545-551. DOI: 10.1080/21678421.2021.1900870

Dai W, Amoedo ND, Perry J, Le Grand B, Boucard A, Carreno J, Zhao L, Brown DA, Rossignol R, Kloner RA. Effects of OP2113 on Myocardial Infarct Size and No Reflow in a Rat Myocardial Ischemia/Reperfusion Model. Cardiovasc Drugs Ther. 2021 Feb 8. Online ahead of print. DOI: 10.1007/s10557-020-07113-7

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. 2021 Feb 7. Online ahead of print. DOI: 10.1007/s10877-021-00661-9

Goizet C. Late-onset presentation of neurometabolic diseases: diagnostic flowchart revisited. J Neurol Neurosurg Psychiatry. 2020 Oct 21:jnnp-2020-324033. Online ahead of print. DOI: 10.1136/jnnp-2020-324033

Pennamen P, Tingaud-Sequeira A, Michaud V, Morice-Picard F, Plaisant C, Vincent-Delorme C, Giuliano F, Azarnoush S, Capri Y, Marçon C, Lacombe D, Lasseaux E, Arveiler B. Novel variants in the BLOC1S3 gene in patients presenting a mild form of Hermansky-Pudlak syndrome. Pigment Cell Melanoma Res. 2021 Jan;34(1):132-135. DOI: 10.1111/pcmr.12915

Michaud V, Fiore M, Coste V, Huguenin Y, Bordet JC, Plaisant C, Lasseaux E, Morice-Picard F, Arveiler B. A new case with Hermansky-Pudlak syndrome type 9, a rare cause of syndromic albinism with severe defect of platelets dense bodies. Platelets. 2021 Apr 3;32(3):420-423. DOI: 10.1080/09537104.2020.1742315

Boutin J, Rosier J, Cappellen D, Prat F, Toutain J, Pennamen P, Bouron J, Rooryck C, Merlio JP, Lamrissi-Garcia I, Cullot G, Amintas S, Guyonnet-Duperat V, Ged C, Blouin JM, Richard E, Dabernat S, Moreau-Gaudry F, Bedel A. CRISPR-Cas9 globin editing can induce megabase-scale copy-neutral losses of heterozygosity in hematopoietic cells. Nat Commun. 2021 Aug 13;12(1):4922. DOI: 10.1038/s41467-021-25190-6

Zampieri LX, Sboarina M, Cacace A, Grasso D, Thabault L, Hamelin L, Vazeille T, Dumon E, Rossignol R, Frédérick R, Sonveaux E, Lefranc F, Sonveaux P. Olaparib Is a Mitochondrial Complex I Inhibitor That Kills Temozolomide-Resistant Human Glioblastoma Cells. Int J Mol Sci. 2021 Nov 3;22(21):11938. DOI: 10.3390/ijms222111938

Imasawa T, Claverol S, Lacombe D, Amoedo ND, Rossignol R. Proteomic Study of Low-Birth-Weight Nephropathy in Rats. Int J Mol Sci. 2021 Sep 24;22(19):10294. DOI: 10.3390/ijms221910294

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. Discovery of a genetic module essential for assigning left-right asymmetry in humans and ancestral vertebrates. Nat Genet. 2022 Jan;54(1):62-72. DOI: 10.1038/s41588-021-00970-4

Abdel Hadi N, Boet E, Lahalle A, Lauture L, Refeyton A, Reyes-Castellanos G, Caplet N, Carrier A, Le Cam L, Mazure NM, Ricci JE, Rocchi S, Sarry JE, Vasseur S, Vlaski-Lafarge M, Rossignol R, Bost F. Meeting report of the 4th biennial Metabolism and Cancer symposium. FEBS J. 2021 Nov 24. Online ahead of print. DOI: 10.1111/febs.16295

Nuber F, Schimpf J, di Rago JP, Tribouillard-Tanvier D, Procaccio V, Martin-Negrier ML, Trimouille A, Biner O, von Ballmoos C, Friedrich T. Biochemical consequences of two clinically relevant ND-gene mutations in Escherichia coli respiratory complex I. Sci Rep. 2021 Jun 16;11(1):12641. DOI: 10.1038/s41598-021-91631-3

Adrien JL, Taupiac E, Thiébaut E, Paulais MA, Van-Gils J, Kaye K, Blanc R, Gattegno MP, Contejean Y, Michel G, Dean A, Barthélémy C, Lacombe D. A comparative study of cognitive and socio-emotional development in children with Rubinstein-Taybi syndrome and children with Autism Spectrum Disorder associated with a severe intellectual disability, and in young typically developing children with matched developmental ages. Res Dev Disabil. 2021 Sep;116:104029. DOI: 10.1016/j.ridd.2021.104029

Dubucs C, Chassaing N, Sergi C, Aubert-Mucca M, Attié-Bitach T, Lacombe D, Thauvin-Robinet C, Arpin S, Perez MJ, Cabrol C, Chen CP, Aziza J, Colin E, Martinovic J, Calvas P, Plaisancié. Re-focusing on Agnathia-Otocephaly complex. J. Clin Oral Investig. 2021 Mar;25(3):1353-1362. DOI: 10.1007/s00784-020-03443-w

Dubrana LE, Knoll-Gellida A, Bourcier LM, Mercé T, Pedemay S, Nachon F, Calas AG, Baati R, Soares M, Babin PJ. An Antidote Screening System for Organophosphorus Poisoning Using Zebrafish Larvae. ACS Chem Neurosci. 2021 Aug 4;12(15):2865-2877. DOI: 10.1021/acschemneuro.1c00251

Knoll-Gellida A, Dubrana LE, Bourcier LM, Mercé T, Gruel G, Soares M, Babin PJ. Hyperactivity and Seizure Induced by Tricresyl Phosphate Are Isomer Specific and Not Linked to Phenyl Valerate-Neuropathy Target Esterase Activity Inhibition in Zebrafish. Toxicol Sci. 2021 Feb 26;180(1):160-174. DOI: 10.1093/toxsci/kfab006

Van Gils J, Magdinier F, Fergelot P, Lacombe D. Rubinstein-Taybi Syndrome: A Model of Epigenetic Disorder. Genes (Basel). 2021 Jun 24;12(7):968. DOI: 10.3390/genes12070968

Modenato C, Kumar K, Moreau C, Martin-Brevet S, Huguet G, Schramm C, Jean-Louis M, Martin CO, Younis N, Tamer P, Douard E, Thébault-Dagher F, Côté V, Charlebois AR, Deguire F, Maillard AM, Rodriguez-Herreros B, Pain A, Richetin S; 16p11.2 European Consortium; Simons Searchlight Consortium, Melie-Garcia L, Kushan L, Silva AI, van den Bree MBM, Linden DEJ, Owen MJ, Hall J, Lippé S, Chakravarty M, Bzdok D, Bearden CE, Draganski B, Jacquemont S. Effects of eight neuropsychiatric copy number variants on human brain structure. Transl Psychiatry. 2021 Jul 20;11(1):399. DOI: 10.1038/s41398-021-01490-9

Lapaillerie D, Lelandais B, Mauro E, Lagadec F, Tumiotto C, Miskey C, Ferran G, Kuschner N, Calmels C, Métifiot M, Rooryck C, Ivics Z, Ruff M, Zimmer C, Lesbats P, Toutain J, Parissi V. Modulation of the intrinsic chromatin binding property of HIV-1 integrase by LEDGF/p75. Nucleic Acids Res. 2021 Nov 8;49(19):11241-11256. DOI: 10.1093/nar/gkab886

Aref-Eshghi E, Kerkhof J, Pedro VP, France GD, 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. 2021 Jun 3;108(6):1161-1163. doi: 10.1016/j.ajhg.2021.04.022. Erratum for: Am J Hum Genet. 2020 Mar 5;106(3):356-370. doi: 10.1016/j.ajhg.2021.04.022

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. 2021 Dec 4;16(1):504. DOI: 10.1186/s13023-021-02128-1

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

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

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

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

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

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

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

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

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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.

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. Neurobiol Dis. 2017 Feb;98:36-51.

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.

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, 37 : 1087-1097.

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.

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.

Roubertie F, Eschalier R, Zemmoura A, Thambo JB, Rooryck C, Labrousse L, Ploux S, Ritter P, Haïssaguerre M, Dos Santos P, Bordachar P. Cardiac Contractility Modulation in a Model of Repaired Tetralogy of Fallot: A Sheep Model. Pediatr Cardiol. 2016 Jun;37(5):826-33.

Peyrou J, Réant P, Reynaud A, Cornolle C, Dijos M, Rooryck-Thambo C, Landelle M, Montaudon M, Laurent F, Roudaut R, Lafitte S. Morphological and functional abnormalities pattern in hypertrophy-free HCM mutation carriers detected with echocardiography. Int J Cardiovasc Imaging. 2016 Sep;32(9):1379-1389.

Rodrigues MF, Obre E, de Melo FH, Santos GC Jr, Galina A, Jasiulionis MG, Rossignol R, Rumjanek FD, Amoêdo ND. Enhanced OXPHOS, glutaminolysis and β-oxidation constitute the metastatic phenotype of melanoma cells. Biochem J. 2016 Mar 15;473(6):703-15.