| Prevalence and architecture of de novo mutations in developmental disorders Nature 542 (7642), 433-438, 2017 | 880 | 2017 |
| Large-scale discovery of novel genetic causes of developmental disorders Nature 519 (7542), 223-228, 2015 | 744 | 2015 |
| Alterations in the ankyrin domain of TRPV4 cause congenital distal SMA, scapuloperoneal SMA and HMSN2C M Auer-Grumbach, A Olschewski, L Papić, H Kremer, ME McEntagart, ... Nature genetics 42 (2), 160-164, 2010 | 304 | 2010 |
| Parental somatic mosaicism is underrecognized and influences recurrence risk of genomic disorders IM Campbell, BO Yuan, C Robberecht, R Pfundt, P Szafranski, ... The American Journal of Human Genetics 95 (2), 173-182, 2014 | 275 | 2014 |
| De novo mutations in MLL cause Wiedemann-Steiner syndrome WD Jones, D Dafou, M McEntagart, WJ Woollard, FV Elmslie, ... The American Journal of Human Genetics 91 (2), 358-364, 2012 | 274 | 2012 |
| Histone lysine methylases and demethylases in the landscape of human developmental disorders V Faundes, WG Newman, L Bernardini, N Canham, J Clayton-Smith, ... The American Journal of Human Genetics 102 (1), 175-187, 2018 | 205 | 2018 |
| Genotype-phenotype correlation in NF1: evidence for a more severe phenotype associated with missense mutations affecting NF1 codons 844–848 M Koczkowska, Y Chen, T Callens, A Gomes, A Sharp, S Johnson, ... The American Journal of Human Genetics 102 (1), 69-87, 2018 | 193 | 2018 |
| How genetically heterogeneous is Kabuki syndrome?: MLL2 testing in 116 patients, review and analyses of mutation and phenotypic spectrum S Banka, R Veeramachaneni, W Reardon, E Howard, S Bunstone, ... European Journal of Human Genetics 20 (4), 381-388, 2012 | 192 | 2012 |
| Mutations in KIF11 cause autosomal-dominant microcephaly variably associated with congenital lymphedema and chorioretinopathy P Ostergaard, MA Simpson, A Mendola, P Vasudevan, FC Connell, ... The American Journal of Human Genetics 90 (2), 356-362, 2012 | 182 | 2012 |
| Genetic heterogeneity in Cornelia de Lange syndrome (CdLS) and CdLS-like phenotypes with observed and predicted levels of mosaicism M Ansari, G Poke, Q Ferry, K Williamson, R Aldridge, AM Meynert, ... Journal of medical genetics 51 (10), 659-668, 2014 | 180 | 2014 |
| Recessive mutations in the gene encoding the tight junction protein occludin cause band-like calcification with simplified gyration and polymicrogyria MC O'Driscoll, SB Daly, JE Urquhart, GCM Black, DT Pilz, K Brockmann, ... The American Journal of Human Genetics 87 (3), 354-364, 2010 | 158 | 2010 |
| Stickler syndrome caused by COL2A1 mutations: genotype–phenotype correlation in a series of 100 patients KP Hoornaert, I Vereecke, C Dewinter, T Rosenberg, FA Beemer, ... European journal of human genetics 18 (8), 872-880, 2010 | 154 | 2010 |
| Genotype–phenotype correlations in X-linked myotubular myopathy M McEntagart, G Parsons, A Buj-Bello, V Biancalana, I Fenton, M Little, ... Neuromuscular Disorders 12 (10), 939-946, 2002 | 153 | 2002 |
| Dominant mutations in the cation channel gene transient receptor potential vanilloid 4 cause an unusual spectrum of neuropathies M Zimoń, J Baets, M Auer-Grumbach, J Berciano, A Garcia, E Lopez-Laso, ... Brain 133 (6), 1798-1809, 2010 | 147 | 2010 |
| Mutations in B4GALNT1 (GM2 synthase) underlie a new disorder of ganglioside biosynthesis GV Harlalka, A Lehman, B Chioza, EL Baple, R Maroofian, H Cross, ... Brain 136 (12), 3618-3624, 2013 | 133 | 2013 |
| Not all SCN1A epileptic encephalopathies are Dravet syndrome: Early profound Thr226Met phenotype LG Sadleir, EI Mountier, D Gill, S Davis, C Joshi, C DeVile, MA Kurian, ... Neurology 89 (10), 1035-1042, 2017 | 128 | 2017 |
| Clinical and genetic aspects of KBG syndrome K Low, T Ashraf, N Canham, J Clayton‐Smith, C Deshpande, ... American journal of medical genetics Part A 170 (11), 2835-2846, 2016 | 105 | 2016 |
| Arid1b haploinsufficient mice reveal neuropsychiatric phenotypes and reversible causes of growth impairment C Celen, JC Chuang, X Luo, N Nijem, AK Walker, F Chen, S Zhang, ... Elife 6, e25730, 2017 | 103 | 2017 |
| Defective presynaptic choline transport underlies hereditary motor neuropathy KES Barwick, J Wright, S Al-Turki, MM McEntagart, A Nair, B Chioza, ... The American Journal of Human Genetics 91 (6), 1103-1107, 2012 | 103 | 2012 |
| Natural history of vanishing white matter EMC Hamilton, HDW van der Lei, G Vermeulen, JAM Gerver, ... Annals of neurology 84 (2), 274-288, 2018 | 98 | 2018 |
