A systematic, large-scale resequencing screen of X-chromosome coding exons in mental retardation PS Tarpey, R Smith, E Pleasance, A Whibley, S Edkins, C Hardy, ... Nature genetics 41 (5), 535-543, 2009 | 681 | 2009 |
Array CGH identifies reciprocal 16p13. 1 duplications and deletions that predispose to autism and/or mental retardation R Ullmann, G Turner, M Kirchhoff, W Chen, B Tonge, C Rosenberg, ... Human mutation 28 (7), 674-682, 2007 | 342 | 2007 |
X-exome sequencing of 405 unresolved families identifies seven novel intellectual disability genes H Hu, SA Haas, J Chelly, H Van Esch, M Raynaud, APM de Brouwer, ... Molecular psychiatry 21 (1), 133-148, 2016 | 305 | 2016 |
Clinical and molecular delineation of the 17q21. 31 microdeletion syndrome DA Koolen, AJ Sharp, JA Hurst, HV Firth, SJL Knight, A Goldenberg, ... Journal of medical genetics 45 (11), 710-720, 2008 | 250 | 2008 |
Submicroscopic duplications of the hydroxysteroid dehydrogenase HSD17B10 and the E3 ubiquitin ligase HUWE1 are associated with mental retardation G Froyen, M Corbett, J Vandewalle, I Jarvela, O Lawrence, C Meldrum, ... The American Journal of Human Genetics 82 (2), 432-443, 2008 | 244 | 2008 |
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 |
Targeted next‐generation sequencing analysis of 1,000 individuals with intellectual disability D Grozeva, K Carss, O Spasic‐Boskovic, MI Tejada, J Gecz, M Shaw, ... Human mutation 36 (12), 1197-1204, 2015 | 194 | 2015 |
Whole-exome sequencing reanalysis at 12 months boosts diagnosis and is cost-effective when applied early in Mendelian disorders LJ Ewans, D Schofield, R Shrestha, Y Zhu, V Gayevskiy, K Ying, C Walsh, ... Genetics in Medicine 20 (12), 1564-1574, 2018 | 176 | 2018 |
Mutations in the guanine nucleotide exchange factor gene IQSEC2 cause nonsyndromic intellectual disability C Shoubridge, PS Tarpey, F Abidi, SL Ramsden, S Rujirabanjerd, ... Nature genetics 42 (6), 486-488, 2010 | 172 | 2010 |
Fine-scale survey of X chromosome copy number variants and indels underlying intellectual disability AC Whibley, V Plagnol, PS Tarpey, F Abidi, T Fullston, MK Choma, ... The American Journal of Human Genetics 87 (2), 173-188, 2010 | 145 | 2010 |
Molecular analysis expands the spectrum of phenotypes associated with GLI3 mutations JJ Johnston, JC Sapp, JT Turner, D Amor, S Aftimos, KA Aleck, M Bocian, ... Human mutation 31 (10), 1142-1154, 2010 | 142 | 2010 |
Germline mutation of the tumour suppressor PTEN in Proteus syndrome JM Smith, EPE Kirk, G Theodosopoulos, GM Marshall, J Walker, ... Journal of medical genetics 39 (12), 937-940, 2002 | 138 | 2002 |
Fumarate hydratase–deficient uterine leiomyomas occur in both the syndromic and sporadic settings WJ Harrison, J Andrici, F Maclean, R Madadi-Ghahan, M Farzin, L Sioson, ... The American journal of surgical pathology 40 (5), 599-607, 2016 | 133 | 2016 |
Transcriptome profiling of UPF3B/NMD-deficient lymphoblastoid cells from patients with various forms of intellectual disability LS Nguyen, L Jolly, C Shoubridge, WK Chan, L Huang, F Laumonnier, ... Molecular psychiatry 17 (11), 1103-1115, 2012 | 120 | 2012 |
De novo loss-of-function mutations in SETD5, encoding a methyltransferase in a 3p25 microdeletion syndrome critical region, cause intellectual disability D Grozeva, K Carss, O Spasic-Boskovic, MJ Parker, H Archer, HV Firth, ... The American Journal of Human Genetics 94 (4), 618-624, 2014 | 118 | 2014 |
A noncoding, regulatory mutation implicates HCFC1 in nonsyndromic intellectual disability L Huang, LA Jolly, S Willis-Owen, A Gardner, R Kumar, E Douglas, ... The American Journal of Human Genetics 91 (4), 694-702, 2012 | 114 | 2012 |
Cancer risks for relatives of patients with serrated polyposis AK Win, RJ Walters, DD Buchanan, MA Jenkins, K Sweet, WL Frankel, ... Official journal of the American College of Gastroenterology| ACG 107 (5 …, 2012 | 112 | 2012 |
Disease-Causing 7.4 kb Cis-Regulatory Deletion Disrupting Conserved Non-Coding Sequences and Their Interaction with the FOXL2 Promotor: Implications for … B D'haene, C Attanasio, D Beysen, J Dostie, E Lemire, P Bouchard, ... PLoS genetics 5 (6), e1000522, 2009 | 110 | 2009 |
Risk factors for colorectal cancer in patients with multiple serrated polyps: a cross-sectional case series from genetics clinics DD Buchanan, K Sweet, M Drini, MA Jenkins, AK Win, DR English, ... PloS one 5 (7), e11636, 2010 | 96 | 2010 |
Mutations in the BRWD3 gene cause X-linked mental retardation associated with macrocephaly M Field, PS Tarpey, R Smith, S Edkins, S O’Meara, C Stevens, C Tofts, ... The American Journal of Human Genetics 81 (2), 367-374, 2007 | 96 | 2007 |