| Germline mutations in the extracellular domains of the 55 kDa TNF receptor, TNFR1, define a family of dominantly inherited autoinflammatory syndromes MF McDermott, I Aksentijevich, J Galon, EM McDermott, BW Ogunkolade, ... Cell 97 (1), 133-144, 1999 | 1623 | 1999 |
| Mutations in cohesin complex members SMC3 and SMC1A cause a mild variant of cornelia de Lange syndrome with predominant mental retardation MA Deardorff, M Kaur, D Yaeger, A Rampuria, S Korolev, J Pie, ... The American Journal of Human Genetics 80 (3), 485-494, 2007 | 596 | 2007 |
| A SWI/SNF-related autism syndrome caused by de novo mutations in ADNP C Helsmoortel, AT Vulto-van Silfhout, BP Coe, G Vandeweyer, L Rooms, ... Nature genetics 46 (4), 380-384, 2014 | 353 | 2014 |
| The X-linked gene G4. 5 is responsible for different infantile dilated cardiomyopathies P D'Adamo, L Fassone, A Gedeon, EAM Janssen, S Bione, PA Bolhuis, ... The American Journal of Human Genetics 61 (4), 862-867, 1997 | 310 | 1997 |
| The CDKL5 disorder is an independent clinical entity associated with early-onset encephalopathy S Fehr, M Wilson, J Downs, S Williams, A Murgia, S Sartori, M Vecchi, ... European Journal of Human Genetics 21 (3), 266-273, 2013 | 298 | 2013 |
| Hirschsprung disease, microcephaly, mental retardation, and characteristic facial features: delineation of a new syndrome and identification of a locus at chromosome 2q22-q23. DR Mowat, GD Croaker, DT Cass, BA Kerr, J Chaitow, LC Ades, NL Chia, ... Journal of medical genetics 35 (8), 617-623, 1998 | 287 | 1998 |
| Hirschsprung disease, microcephaly, mental retardation, and characteristic facial features: delineation of a new syndrome and identification of a locus at chromosome 2q22-q23. DR Mowat, GD Croaker, DT Cass, BA Kerr, J Chaitow, LC Ades, NL Chia, ... Journal of medical genetics 35 (8), 617-623, 1998 | 284 | 1998 |
| What constitutes cerebral palsy in the twenty‐first century? H Smithers‐Sheedy, N Badawi, E Blair, C Cans, K Himmelmann, ... Developmental Medicine & Child Neurology 56 (4), 323-328, 2014 | 270 | 2014 |
| Mowat-Wilson syndrome DR Mowat, MJ Wilson, M Goossens Journal of medical genetics 40 (5), 305-310, 2003 | 263* | 2003 |
| Loss-of-function mutations in SIP1 Smad interacting protein 1 result in a syndromic Hirschsprung disease V Cacheux, F Dastot-Le Moal, H Kääriäinen, N Bondurand, R Rintala, ... Human molecular genetics 10 (14), 1503-1510, 2001 | 259 | 2001 |
| Further clinical and molecular delineation of the 9q subtelomeric deletion syndrome supports a major contribution of EHMT1 haploinsufficiency to the core phenotype T Kleefstra, WA van Zelst-Stams, WM Nillesen, V Cormier-Daire, G Houge, ... Journal of medical genetics 46 (9), 598-606, 2009 | 236 | 2009 |
| Bigger is better: maternal and neonatal predictors of hematopoietic potential of umbilical cord blood units KK Ballen, M Wilson, J Wuu, AM Ceredona, C Hsieh, FM Stewart, ... Bone marrow transplantation 27 (1), 7-14, 2001 | 232 | 2001 |
| Clinical and molecular analysis of 30 patients with multiple lentigines LEOPARD syndrome A Sarkozy, E Conti, MC Digilio, B Marino, E Morini, G Pacileo, M Wilson, ... Journal of Medical Genetics 41 (5), e68-e68, 2004 | 199 | 2004 |
| CHARGE syndrome: a review P Hsu, A Ma, M Wilson, G Williams, J Curotta, CF Munns, S Mehr Journal of paediatrics and child health 50 (7), 504-511, 2014 | 195 | 2014 |
| Genome-wide profiling of p63 DNA–binding sites identifies an element that regulates gene expression during limb development in the 7q21 SHFM1 locus EN Kouwenhoven, SJ van Heeringen, JJ Tena, M Oti, BE Dutilh, ... PLoS genetics 6 (8), e1001065, 2010 | 183 | 2010 |
| ZFHX1B mutations in patients with Mowat‐Wilson syndrome F Dastot‐Le Moal, M Wilson, D Mowat, N Collot, F Niel, M Goossens Human mutation 28 (4), 313-321, 2007 | 163 | 2007 |
| Feasibility of ultra-rapid exome sequencing in critically ill infants and children with suspected monogenic conditions in the Australian public health care system S Lunke, S Eggers, M Wilson, C Patel, CP Barnett, J Pinner, ... Jama 323 (24), 2503-2511, 2020 | 150 | 2020 |
| Barth syndrome: clinical features and confirmation of gene localisation to distal Xq28 LC Ades, AK Gedeon, MJ Wilson, M Latham, MW Partington, JC Mulley, ... American journal of medical genetics 45 (3), 327-334, 1993 | 146 | 1993 |
| CASK mutations are frequent in males and cause X-linked nystagmus and variable XLMR phenotypes A Hackett, PS Tarpey, A Licata, J Cox, A Whibley, J Boyle, C Rogers, ... European Journal of Human Genetics 18 (5), 544-552, 2010 | 133 | 2010 |
| CASK mutations are frequent in males and cause X-linked nystagmus and variable XLMR phenotypes A Hackett, PS Tarpey, A Licata, J Cox, A Whibley, J Boyle, C Rogers, ... European Journal of Human Genetics 18 (5), 544-552, 2010 | 133 | 2010 |
