Publications équipe 1

Perrin A, Métay C, Savarese M, Ben Yaou R, Demidov G, Nelson I, Solé G, Péréon Y, Bertini ES, Fattori F, D’Amico A, Ricci F, Ginsberg M, Seferian A, Boespflug-Tanguy O, Servais L, Chapon F, Lagrange E, Gaudon K, Bloch A, Ghanem R, Guyant-Maréchal L, Johari M, Van Goethem C, Fardeau M, Morales RJ, Genetti CA, Marttila M, Koenig M, Beggs AH, Udd B, Bonne G, Cossée M. Titin copy number variations associated with dominant inherited phenotypes. J Med Genet. 2023 Dec 7:jmg-2023-109473. doi: 10.1136/jmg-2023-109473.
Benarroch L*, Madsen-Østerbye J*, Abdelhalim M, Mamchaoui K, Ohana J, Bigot A, Mouly V, Bonne G, Bertrand AT*, Collas P*. Cellular and Genomic Features of Muscle Differentiation from Isogenic Fibroblasts and Myoblasts. Cells. 2023 Aug 3;12(15):1995. doi: 10.3390/cells12151995. Co-first and Co-Last authors.
Gregory EF, Kalra S, Brock T, Bonne G, Luxton GWG, Hopkins C, Starr DA. Caenorhabditis elegans models for striated muscle disorders caused by missense variants of human LMNA. PLoS Genet. 2023 Aug 25;19(8):e1010895. doi: 10.1371/journal.pgen.1010895.
Cannie DE, Syrris P, Protonotarios A, Bakalakos A, Pruny JF, Ditaranto R, Martinez-Veira C, Larrañaga-Moreira JM, Medo K, Bermúdez-Jiménez FJ, Ben Yaou R, Leturq F, Mezcua AR, Marini-Bettolo C, Cabrera E, Reuter C, Limeres Freire J, Rodríguez-Palomares JF, Mestroni L, Taylor MRG, Parikh VN, Ashley EA, Barriales-Villa R, Jiménez-Jáimez J, Garcia-Pavia P, Charron P, Biagini E, García Pinilla JM, Bourke J, Savvatis K, Wahbi K, Elliott PM. Emery-Dreifuss Muscular Dystrophy 1 is associated with high risk of malignant ventricular arrhythmias and end-stage heart failure. Eur Heart J. 2023 Aug 28:ehad561. doi: 10.1093/eurheartj/ehad561.
Stojkovic T, Masingue M, Métay C, Romero NB, Eymard B, Ben Yaou R, Rialland L, Drunat S, Gartioux C, Nelson I, Allamand V, Bonne G, Villar-Quiles RN. LAMA2-Related Muscular Dystrophy: The Importance of Accurate Phenotyping and Brain Imaging in the Diagnosis of LGMD. J Neuromuscul Dis. 2023;10(1):125-133. doi: 10.3233/JND-221555.2022.
Denommé-Pichon AS, Matalonga L, de Boer E, Jackson A, Benetti E, Banka S, Bruel AL, Ciolfi A, Clayton-Smith J, Dallapiccola B, Duffourd Y, Ellwanger K, Fallerini C, Gilissen C, Graessner H, Haack TB, Havlovicova M, Hoischen A, Jean-Marçais N, Kleefstra T, López-Martín E, Macek M, Mencarelli MA, Moutton S, Pfundt R, Pizzi S, Posada M, Radio FC, Renieri A, Rooryck C, Ryba L, Safraou H, Schwarz M, Tartaglia M, Thauvin-Robinet C, Thevenon J, Tran Mau-Them F, Trimouille A, Votypka P, de Vries BBA, Willemsen MH, Zurek B, Verloes A, Philippe C; Solve-RD DITF-ITHACA; Solve-RD SNV-indel Working Group*; Solve-RD Consortia; Orphanomix Group; Vitobello A, Vissers LELM, Faivre L. A Solve-RD ClinVar-based reanalysis of 1522 index cases from ERN-ITHACA reveals common pitfalls and misinterpretations in exome sequencing. Genet Med. 2023 Apr;25(4):100018. doi: 10.1016/j.gim.2023.100018. *I. Nelson as I as part of Solve-RD SNV-indel Working Group*
Yaldiz B, Kucuk E, Hampstead J, Hofste T, Pfundt R, Corominas Galbany J, Rinne T, Yntema HG, Hoischen A, Nelen M, Gilissen C; Solve-RD consortium*. Twist exome capture allows for lower average sequence coverage in clinical exome sequencing. Hum Genomics. 2023 May 3;17(1):39. doi: 10.1186/s40246-023-00485-5. *G Bonne, T Evangelista, V Allamand, I Nelson, R Ben Yaou, C Metay, E Cohen, A Atalaia, T Stojkovic as part of Solve-RD consortium.
Jackson A, Lin SJ, Jones EA, Chandler KE, Orr D, Moss C, Haider Z, Ryan G, Holden S, Harrison M, Burrows N, Jones WD, Loveless M, Petree C, Stewart H, Low K, Donnelly D, Lovell S, Drosou K; Genomics England Research Consortium; Solve-RD consortium*; Varshney GK, Banka S. Clinical, genetic, epidemiologic, evolutionary, and functional delineation of TSPEAR-related autosomal recessive ectodermal dysplasia 14. HGG Adv. 2023 Mar 3;4(2):100186. doi: 10.1016/j.xhgg.2023.100186. *G Bonne, T Evangelista, V Allamand, I Nelson, R Ben Yaou, C Metay, E Cohen, A Atalaia, T Stojkovic as part of Solve-RD consortium