|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
|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
|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
|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
|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
|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
|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
|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
|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
|Disease-causing 7.4 kb cis-regulatory deletion disrupting conserved non-coding sequences and their interaction with the FOXL2 promotor: implications for mutation screening|
B D'haene, C Attanasio, D Beysen, J Dostie, E Lemire, P Bouchard, ...
PLoS genetics 5 (6), 2009
|Cancer risks for relatives of patients with serrated polyposis|
AK Win, RJ Walters, DD Buchanan, MA Jenkins, K Sweet, WL Frankel, ...
The American journal of gastroenterology 107 (5), 770, 2012
|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
|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
|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
|High rates of occult fallopian tube cancer diagnosed at prophylactic bilateral salpingo-oophorectomy|
JE Hirst, GB Gard, K Mcillroy, D Nevell, M Field
International Journal of Gynecologic Cancer 19 (5), 826-829-826-829, 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), 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
|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
|Extreme growth failure is a common presentation of ligase IV deficiency|
JE Murray, LS Bicknell, G Yigit, AL Duker, M van Kogelenberg, ...
Human mutation 35 (1), 76-85, 2014
|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, 2016