Mutations in TUBG1, DYNC1H1, KIF5C and KIF2A cause malformations of cortical development and microcephaly K Poirier, N Lebrun, L Broix, G Tian, Y Saillour, C Boscheron, E Parrini, ... Nature genetics 45 (6), 639-647, 2013 | 489 | 2013 |
Loss-of-function mutations in euchromatin histone methyl transferase 1 (EHMT1) cause the 9q34 subtelomeric deletion syndrome T Kleefstra, HG Brunner, J Amiel, AR Oudakker, WM Nillesen, A Magee, ... The American Journal of Human Genetics 79 (2), 370-377, 2006 | 427 | 2006 |
Lamin A and ZMPSTE24 (FACE-1) defects cause nuclear disorganization and identify restrictive dermopathy as a lethal neonatal laminopathy CL Navarro, A De Sandre-Giovannoli, R Bernard, I Boccaccio, A Boyer, ... Human molecular genetics 13 (20), 2493-2503, 2004 | 422 | 2004 |
Germline deletion of the miR-17∼ 92 cluster causes skeletal and growth defects in humans L de Pontual, E Yao, P Callier, L Faivre, V Drouin, S Cariou, ... Nature genetics 43 (10), 1026-1030, 2011 | 358 | 2011 |
Identification of MEFV-independent modifying genetic factors for familial Mediterranean fever C Cazeneuve, H Ajrapetyan, S Papin, F Roudot-Thoraval, D Geneviève, ... The American Journal of Human Genetics 67 (5), 1136-1143, 2000 | 319 | 2000 |
Mutations in the neuronal β-tubulin subunit TUBB3 result in malformation of cortical development and neuronal migration defects K Poirier, Y Saillour, N Bahi-Buisson, XH Jaglin, C Fallet-Bianco, ... Human molecular genetics 19 (22), 4462-4473, 2010 | 293 | 2010 |
Efficient strategy for the molecular diagnosis of intellectual disability using targeted high-throughput sequencing C Redin, B Gérard, J Lauer, Y Herenger, J Muller, A Quartier, ... Journal of medical genetics 51 (11), 724-736, 2014 | 291 | 2014 |
DYNC2H1 mutations cause asphyxiating thoracic dystrophy and short rib-polydactyly syndrome, type III N Dagoneau, M Goulet, D Geneviève, Y Sznajer, J Martinovic, S Smithson, ... The American Journal of Human Genetics 84 (5), 706-711, 2009 | 257 | 2009 |
Mutations in the TGFβ binding-protein-like domain 5 of FBN1 are responsible for acromicric and geleophysic dysplasias C Le Goff, C Mahaut, LW Wang, S Allali, A Abhyankar, S Jensen, ... The American Journal of Human Genetics 89 (1), 7-14, 2011 | 240 | 2011 |
A new autoinflammatory and autoimmune syndrome associated with NLRP1 mutations: NAIAD (NLRP1-associated autoinflammation with arthritis and dyskeratosis) S Grandemange, E Sanchez, P Louis-Plence, FT Mau-Them, D Bessis, ... Annals of the rheumatic diseases 76 (7), 1191-1198, 2017 | 220 | 2017 |
Evaluation of DNA methylation episignatures for diagnosis and phenotype correlations in 42 Mendelian neurodevelopmental disorders E Aref-Eshghi, J Kerkhof, VP Pedro, M Barat-Houari, N Ruiz-Pallares, ... The American Journal of Human Genetics 106 (3), 356-370, 2020 | 205 | 2020 |
Treacher Collins syndrome: a clinical and molecular study based on a large series of patients M Vincent, D Geneviève, A Ostertag, S Marlin, D Lacombe, ... Genetics in Medicine 18 (1), 49-56, 2016 | 177 | 2016 |
Mutation Update for Kabuki Syndrome Genes KMT2D and KDM6A and Further Delineation of X‐Linked Kabuki Syndrome Subtype 2 N Bögershausen, V Gatinois, V Riehmer, H Kayserili, J Becker, ... Human mutation 37 (9), 847-864, 2016 | 167 | 2016 |
Disruption of POGZ is associated with intellectual disability and autism spectrum disorders HAF Stessman, MH Willemsen, M Fenckova, O Penn, A Hoischen, ... The American Journal of Human Genetics 98 (3), 541-552, 2016 | 167 | 2016 |
Contiguous gene deletion within chromosome arm 10q is associated with juvenile polyposis of infancy, reflecting cooperation between the BMPR1A and PTEN tumor-suppressor genes C Delnatte, D Sanlaville, JF Mougenot, JR Vermeesch, C Houdayer, ... The American Journal of Human Genetics 78 (6), 1066-1074, 2006 | 147 | 2006 |
Deletion of the SIM1 gene (6q16. 2) in a patient with a Prader-Willi-like phenotype L Faivre, V Cormier-Daire, JM Lapierre, L Colleaux, S Jacquemont, ... Journal of medical genetics 39 (8), 594-596, 2002 | 147 | 2002 |
Mutation Update for COL2A1 Gene Variants Associated with Type II Collagenopathies M Barat‐Houari, G Sarrabay, V Gatinois, A Fabre, B Dumont, ... Human Mutation 37 (1), 7-15, 2016 | 135 | 2016 |
Phenotype and genotype in 52 patients with Rubinstein–Taybi syndrome caused by EP300 mutations P Fergelot, M Van Belzen, J Van Gils, A Afenjar, CM Armour, B Arveiler, ... American Journal of Medical Genetics Part A 170 (12), 3069-3082, 2016 | 128 | 2016 |
Molecular analysis of pericentrin gene (PCNT) in a series of 24 Seckel/microcephalic osteodysplastic primordial dwarfism type II (MOPD II) families M Willems, D Genevieve, G Borck, C Baumann, G Baujat, E Bieth, P Edery, ... Journal of medical genetics 47 (12), 797-802, 2010 | 122 | 2010 |
New insights into genotype–phenotype correlation for GLI3 mutations F Démurger, A Ichkou, S Mougou-Zerelli, M Le Merrer, G Goudefroye, ... European Journal of Human Genetics 23 (1), 92-102, 2015 | 119 | 2015 |