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KIF7 mutations cause fetal hydrolethalus and acrocallosal syndromes A Putoux, S Thomas, KLM Coene, EE Davis, Y Alanay, G Ogur, E Uz, ... Nature genetics 43 (6), 601-606, 2011 | 252 | 2011 |
AMPA receptor GluA2 subunit defects are a cause of neurodevelopmental disorders V Salpietro, CL Dixon, H Guo, OD Bello, J Vandrovcova, S Efthymiou, ... Nature communications 10 (1), 3094, 2019 | 187 | 2019 |
Loss-of-function mutations in WDR73 are responsible for microcephaly and steroid-resistant nephrotic syndrome: Galloway-Mowat syndrome E Colin, EH Cong, G Mollet, A Guichet, O Gribouval, C Arrondel, O Boyer, ... The American Journal of Human Genetics 95 (6), 637-648, 2014 | 136 | 2014 |
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Mutation Update of the CLCN5 Gene Responsible for Dent Disease 1 L Mansour‐Hendili, A Blanchard, N Le Pottier, I Roncelin, S Lourdel, ... Human mutation 36 (8), 743-752, 2015 | 90 | 2015 |
Hematopoietic stem cell transplantation in 29 patients hemizygous for hypomorphic IKBKG/NEMO mutations C Miot, K Imai, C Imai, AJ Mancini, ZY Kucuk, T Kawai, R Nishikomori, ... Blood, The Journal of the American Society of Hematology 130 (12), 1456-1467, 2017 | 89 | 2017 |
De novo missense mutations in DHX30 impair global translation and cause a neurodevelopmental disorder D Lessel, C Schob, S Küry, MRF Reijnders, T Harel, MK Eldomery, ... The American Journal of Human Genetics 101 (5), 716-724, 2017 | 85 | 2017 |
Mutations in WNT10A are frequently involved in oligodontia associated with minor signs of ectodermal dysplasia J Plaisancié, I Bailleul‐Forestier, V Gaston, F Vaysse, D Lacombe, ... American Journal of Medical Genetics Part A 161 (4), 671-678, 2013 | 85 | 2013 |
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Early-onset Behr syndrome due to compound heterozygous mutations in OPA1 D Bonneau, E Colin, F Oca, M Ferré, A Chevrollier, N Guéguen, ... Brain 137 (10), e301-e301, 2014 | 80 | 2014 |
A recurrent KCNQ2 pore mutation causing early onset epileptic encephalopathy has a moderate effect on M current but alters subcellular localization of Kv7 channels A Abidi, JJ Devaux, F Molinari, G Alcaraz, FX Michon, J Sutera-Sardo, ... Neurobiology of disease 80, 80-92, 2015 | 73 | 2015 |
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The CHD4-related syndrome: a comprehensive investigation of the clinical spectrum, genotype–phenotype correlations, and molecular basis K Weiss, HP Lazar, A Kurolap, AF Martinez, T Paperna, L Cohen, ... Genetics in Medicine 22 (2), 389-397, 2020 | 59 | 2020 |
Bioinformatics tools and databases to assess the pathogenicity of mitochondrial DNA variants in the field of next generation sequencing C Bris, D Goudenege, V Desquiret-Dumas, M Charif, E Colin, D Bonneau, ... Frontiers in genetics 9, 632, 2018 | 58 | 2018 |
eKLIPse: a sensitive tool for the detection and quantification of mitochondrial DNA deletions from next-generation sequencing data D Goudenège, C Bris, V Hoffmann, V Desquiret-Dumas, C Jardel, ... Genetics in Medicine 21 (6), 1407-1416, 2019 | 51 | 2019 |
De Novo Truncating Mutations in the Kinetochore‐Microtubules Attachment Gene CHAMP1 Cause Syndromic Intellectual Disability B Isidor, S Küry, JA Rosenfeld, T Besnard, S Schmitt, S Joss, SJ Davies, ... Human Mutation 37 (4), 354-358, 2016 | 51 | 2016 |
SLC24A5 mutations are associated with non-syndromic oculocutaneous albinism F Morice-Picard, E Lasseaux, S François, D Simon, C Rooryck, E Bieth, ... The Journal of investigative dermatology 134 (2), 568, 2014 | 50 | 2014 |