| 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 | 520 | 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 | 450 | 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 | 436 | 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 | 375 | 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 | 332 | 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 | 314 | 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 | 303 | 2014 |
| 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 | 283 | 2020 |
| 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 | 266 | 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 | 245 | 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 | 240 | 2017 |
| 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 | 196 | 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 | 194 | 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 | 181 | 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 | 155 | 2006 |
| Novel diagnostic DNA methylation episignatures expand and refine the epigenetic landscapes of Mendelian disorders MA Levy, H McConkey, J Kerkhof, M Barat-Houari, S Bargiacchi, ... Human Genetics and Genomics Advances 3 (1), 2022 | 154 | 2022 |
| 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 | 153 | 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 | 152 | 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 | 150 | 2016 |
| Molecular diagnosis of PIK3CA-related overgrowth spectrum (PROS) in 162 patients and recommendations for genetic testing P Kuentz, J St-Onge, Y Duffourd, JB Courcet, V Carmignac, T Jouan, ... Genetics in medicine 19 (9), 989-997, 2017 | 130 | 2017 |
