|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, 2009
|X-linked protocadherin 19 mutations cause female-limited epilepsy and cognitive impairment|
LM Dibbens, PS Tarpey, K Hynes, MA Bayly, IE Scheffer, R Smith, ...
Nature genetics 40 (6), 776, 2008
|Paternal obesity initiates metabolic disturbances in two generations of mice with incomplete penetrance to the F2 generation and alters the transcriptional profile of …|
T Fullston, EMC Ohlsson Teague, NO Palmer, MJ DeBlasio, M Mitchell, ...
The FASEB Journal 27 (10), 4226-4243, 2013
|Identification of a microRNA that activates gene expression by repressing nonsense-mediated RNA decay|
IG Bruno, R Karam, L Huang, A Bhardwaj, CH Lou, EY Shum, HW Song, ...
Molecular cell 42 (4), 500-510, 2011
|PRRT2 mutations cause benign familial infantile epilepsy and infantile convulsions with choreoathetosis syndrome|
SE Heron, BE Grinton, S Kivity, Z Afawi, SM Zuberi, JN Hughes, ...
The American Journal of Human Genetics 90 (1), 152-160, 2012
|Mutations in DEPDC5 cause familial focal epilepsy with variable foci|
LM Dibbens, B De Vries, S Donatello, SE Heron, BL Hodgson, ...
Nature genetics 45 (5), 546, 2013
|Mutations in UPF3B, a member of the nonsense-mediated mRNA decay complex, cause syndromic and nonsyndromic mental retardation|
PS Tarpey, FL Raymond, LS Nguyen, J Rodriguez, A Hackett, ...
Nature genetics 39 (9), 1127, 2007
|The genetic landscape of intellectual disability arising from chromosome X|
J Gécz, C Shoubridge, M Corbett
Trends in Genetics 25 (7), 308-316, 2009
|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, 2016
|A focal epilepsy and intellectual disability syndrome is due to a mutation in TBC1D24|
MA Corbett, M Bahlo, L Jolly, Z Afawi, AE Gardner, KL Oliver, S Tan, ...
The American Journal of Human Genetics 87 (3), 371-375, 2010
|A mutation in α-tropomyosinslow affects muscle strength, maturation and hypertrophy in a mouse model for nemaline myopathy|
MA Corbett, CS Robinson, GF Dunglison, N Yang, JE Joya, AW Stewart, ...
Human molecular genetics 10 (4), 317-328, 2001
|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
|De novo mutations in SLC1A2 and CACNA1A are important causes of epileptic encephalopathies|
CT Myers, JM McMahon, AL Schneider, S Petrovski, AS Allen, GL Carvill, ...
The American Journal of Human Genetics 99 (2), 287-298, 2016
|A mutation in the Golgi Qb-SNARE gene GOSR2 causes progressive myoclonus epilepsy with early ataxia|
MA Corbett, M Schwake, M Bahlo, LM Dibbens, M Lin, LC Gandolfo, ...
The American Journal of Human Genetics 88 (5), 657-663, 2011
|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, 2010
|Whole-exome sequencing points to considerable genetic heterogeneity of cerebral palsy|
G McMichael, MN Bainbridge, E Haan, M Corbett, A Gardner, ...
Molecular psychiatry 20 (2), 176, 2015
|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
|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
|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, 2012