2019

Pauline Esteves, Laetitia Dard, Aurélia Brillac, Christophe Hubert, Saharnaz Sarlak, Benoît Rousseau, Elodie Dumon, Julien Izotte, Marc Bonneu, Didier Lacombe, Jean-William Dupuy, Nivea Amoedo and Rodrigue Rossignol. Nuclear control of lung cancer cells migration, invasion and bioenergetics by eukaryotic translation initiation factor 3F. Oncogene (2019). https://doi.org/10.1038/s41388-019-1009-x

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. https://doi.org/10.1038/s41436-019-0444-y

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. https://doi.org/10.1111/bjd.17077

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 Jan 16. https://doi.org/10.1161/CIRCGEN.118.002419

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 Jan 11. https://doi.org/10.1111/cge.13493

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. https://doi.org/10.1016/j.cmet.2018.09.002

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. 2019 Jan 7. https://doi.org/10.1111/cge.13500

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/αIIbβ3 interaction induces macrothrombocytopenia. Blood. 2019 Jan 2. https://doi.org/10.1182/blood-2018-07-861427

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.

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.

Arveiler B. Genomics in service delivery in France. Med Sci (Paris). 2018 May;34 Hors série n°1:41-42.

Lalou C. and Bellance N. Regulation of Mitochondrial Energy Metabolism. eLS. 2018 April 27.

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.

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.

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.

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.

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.

Benmoussa, K., Garaude J. and Acín-Pérez, R. How mitochondrial metabolism contributes to macrophage functions. Journal of Molecular Biology,2018.

Garaude J. Reprogramming of mitochondrial metabolism by innate immunity. Current Opinion in Immunoogyl,2018.

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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

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

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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

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. Molecular characterization of a series of 990 index patients with albinism. Pigment Cell Melanoma Res. 2018 Jul;31(4):466-474.

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.

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.

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.

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).

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.

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.

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.

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.

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.

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.

2017

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

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

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

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

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

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

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.