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Michael Field
Michael Field
Hunter genetics
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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
6812009
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
3422007
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
3052016
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
2502008
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
2442008
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
2052020
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
1942015
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
1762018
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
1722010
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
1452010
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
1422010
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
1382002
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
1332016
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
1202012
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
1182014
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
1142012
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
1122012
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
1102009
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
962010
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
962007
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