| Human Ehlers-Danlos syndrome type VII C and bovine dermatosparaxis are caused by mutations in the procollagen I N-proteinase gene A Colige, AL Sieron, SW Li, U Schwarze, E Petty, W Wertelecki, W Wilcox, ... The American Journal of Human Genetics 65 (2), 308-317, 1999 | 438 | 1999 |
| Williams syndrome: use of chromosomal microdeletions as a tool to dissect cognitive and physical phenotypes M Tassabehji, K Metcalfe, A Karmiloff-Smith, MJ Carette, J Grant, ... The American Journal of Human Genetics 64 (1), 118-125, 1999 | 324 | 1999 |
| CDH23 mutation and phenotype heterogeneity: a profile of 107 diverse families with Usher syndrome and nonsyndromic deafness LM Astuto, JM Bork, MD Weston, JW Askew, RR Fields, DJ Orten, ... The American Journal of Human Genetics 71 (2), 262-275, 2002 | 250 | 2002 |
| Overlapping spectra of SMAD4 mutations in juvenile polyposis (JP) and JP–HHT syndrome C Gallione, AS Aylsworth, J Beis, T Berk, B Bernhardt, RD Clark, ... American journal of medical genetics Part A 152 (2), 333-339, 2010 | 183 | 2010 |
| Gain-of-function mutations of ARHGAP31, a Cdc42/Rac1 GTPase regulator, cause syndromic cutis aplasia and limb anomalies L Southgate, RD Machado, KM Snape, M Primeau, D Dafou, DM Ruddy, ... The American Journal of Human Genetics 88 (5), 574-585, 2011 | 131 | 2011 |
| 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 | 130 | 2016 |
| MLL2 mutation detection in 86 patients with Kabuki syndrome: a genotype–phenotype study P Makrythanasis, BW Van Bon, M Steehouwer, B Rodríguez‐Santiago, ... Clinical genetics 84 (6), 539-545, 2013 | 117 | 2013 |
| Mutations in HPSE2 cause urofacial syndrome SB Daly, JE Urquhart, E Hilton, EA McKenzie, RA Kammerer, M Lewis, ... The American Journal of Human Genetics 86 (6), 963-969, 2010 | 116 | 2010 |
| Meier–Gorlin syndrome genotype–phenotype studies: 35 individuals with pre-replication complex gene mutations and 10 without molecular diagnosis SA De Munnik, LS Bicknell, S Aftimos, JY Al-Aama, Y Van Bever, ... European Journal of Human Genetics 20 (6), 598-606, 2012 | 115 | 2012 |
| De novo mutations of the gene encoding the histone acetyltransferase KAT6B cause Genitopatellar syndrome MA Simpson, C Deshpande, D Dafou, LELM Vissers, WJ Woollard, ... The American Journal of Human Genetics 90 (2), 290-294, 2012 | 102 | 2012 |
| Genetic heterogeneity of Usher syndrome: analysis of 151 families with Usher type I LM Astuto, MD Weston, CA Carney, DM Hoover, CWRJ Cremers, ... The American Journal of Human Genetics 67 (6), 1569-1574, 2000 | 89 | 2000 |
| Parental insertional balanced translocations are an important cause of apparently de novo CNVs in patients with developmental anomalies BA Nowakowska, N De Leeuw, CAL Ruivenkamp, B Sikkema-Raddatz, ... European Journal of Human Genetics 20 (2), 166-170, 2012 | 86 | 2012 |
| Family‐based genetic association study of DLGAP3 in Tourette Syndrome J Crane, J Fagerness, L Osiecki, B Gunnell, SE Stewart, DL Pauls, ... American Journal of Medical Genetics Part B: Neuropsychiatric Genetics 156 …, 2011 | 82 | 2011 |
| Successful application of genome sequencing in a diagnostic setting: 1007 index cases from a clinically heterogeneous cohort AM Bertoli-Avella, C Beetz, N Ameziane, ME Rocha, P Guatibonza, ... European Journal of Human Genetics 29 (1), 141-153, 2021 | 80 | 2021 |
| Identification of two different mutations in the PDS gene in an inbred family with Pendred syndrome PJ Coucke, P Van Hauwe, LA Everett, O Demirhan, Y Kabakkaya, ... Journal of medical genetics 36 (6), 475-477, 1999 | 76 | 1999 |
| Central 22q11. 2 deletions P Rump, N de Leeuw, AJ van Essen, CC Verschuuren‐Bemelmans, ... American Journal of Medical Genetics Part A 164 (11), 2707-2723, 2014 | 73 | 2014 |
| Genotype–phenotype analysis of the branchio‐oculo‐facial syndrome JM Milunsky, TM Maher, G Zhao, Z Wang, JB Mulliken, D Chitayat, ... American Journal of Medical Genetics Part A 155 (1), 22-32, 2011 | 73 | 2011 |
| Further delineation of the KAT6B molecular and phenotypic spectrum T Gannon, R Perveen, H Schlecht, S Ramsden, B Anderson, B Kerr, ... European Journal of Human Genetics 23 (9), 1165-1170, 2015 | 62 | 2015 |
| Oto-facial syndrome and esophageal atresia, intellectual disability and zygomatic anomalies - expanding the phenotypes associated with EFTUD2 mutations C Voigt, A Mégarbané, K Neveling, JC Czeschik, B Albrecht, B Callewaert, ... Orphanet journal of rare diseases 8, 1-12, 2013 | 56 | 2013 |
| De novo heterozygous POLR2A variants cause a neurodevelopmental syndrome with profound infantile-onset hypotonia HA Haijes, MJE Koster, H Rehmann, D Li, H Hakonarson, G Cappuccio, ... The American Journal of Human Genetics 105 (2), 283-301, 2019 | 54 | 2019 |
