Eamonn Sheridan
Eamonn Sheridan
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Germline mutations affecting the proofreading domains of POLE and POLD1 predispose to colorectal adenomas and carcinomas
C Palles, JB Cazier, KM Howarth, E Domingo, AM Jones, P Broderick, ...
Nature genetics 45 (2), 136-144, 2013
Prevalence and architecture of de novo mutations in developmental disorders
Nature 542 (7642), 433-438, 2017
Loci on 7p12. 2, 10q21. 2 and 14q11. 2 are associated with risk of childhood acute lymphoblastic leukemia
E Papaemmanuil, FJ Hosking, J Vijayakrishnan, A Price, B Olver, ...
Nature genetics 41 (9), 1006-1010, 2009
Epilepsy, ataxia, sensorineural deafness, tubulopathy, and KCNJ10 mutations
D Bockenhauer, S Feather, HC Stanescu, S Bandulik, AA Zdebik, ...
New England Journal of Medicine 360 (19), 1960-1970, 2009
Constitutional mutations of the hSNF5/INI1 gene predispose to a variety of cancers
N SÚvenet, E Sheridan, D Amram, P Schneider, R Handgretinger, ...
The American Journal of Human Genetics 65 (5), 1342-1348, 1999
Glucose transporter-1 deficiency syndrome: the expanding clinical and genetic spectrum of a treatable disorder
WG Leen, J Klepper, MM Verbeek, M Leferink, T Hofste, BG Van Engelen, ...
Brain 133 (3), 655-670, 2010
Loss-of-function mutations in MICU1 cause a brain and muscle disorder linked to primary alterations in mitochondrial calcium signaling
CV Logan, G Szabadkai, JA Sharpe, DA Parry, S Torelli, AM Childs, ...
Nature genetics 46 (2), 188-193, 2014
A germline deletion of p14ARF but not CDKN2A in a melanoma–neural system tumour syndrome family
JA Randerson-Moor, M Harland, S Williams, D Cuthbert-Heavens, ...
Human molecular genetics 10 (1), 55-62, 2001
Variation in CDKN2A at 9p21.3 influences childhood acute lymphoblastic leukemia risk
AL Sherborne, FJ Hosking, RB Prasad, R Kumar, R Koehler, ...
Nature genetics 42 (6), 492-494, 2010
Risk factors for congenital anomaly in a multiethnic birth cohort: an analysis of the Born in Bradford study
E Sheridan, J Wright, N Small, PC Corry, S Oddie, C Whibley, ...
The Lancet 382 (9901), 1350-1359, 2013
T (brachyury) gene duplication confers major susceptibility to familial chordoma
XR Yang, D Ng, DA Alcorta, NJ Liebsch, E Sheridan, S Li, AM Goldstein, ...
Nature genetics 41 (11), 1176-1178, 2009
Health and population effects of rare gene knockouts in adult humans with related parents
VM Narasimhan, KA Hunt, D Mason, CL Baker, KJ Karczewski, ...
Science 352 (6284), 474-477, 2016
Common variation near CDKN1A, POLD3 and SHROOM2 influences colorectal cancer risk
MG Dunlop, SE Dobbins, SM Farrington, AM Jones, C Palles, N Whiffin, ...
Nature genetics 44 (7), 770-776, 2012
CCDC103 mutations cause primary ciliary dyskinesia by disrupting assembly of ciliary dynein arms
JR Panizzi, A Becker-Heck, VH Castleman, DA Al-Mutairi, Y Liu, ...
Nature genetics 44 (6), 714-719, 2012
A global disorder of imprinting in the human female germ line
H Judson, BE Hayward, E Sheridan, DT Bonthron
Nature 416 (6880), 539-542, 2002
Mutations causing familial biparental hydatidiform mole implicate c6orf221 as a possible regulator of genomic imprinting in the human oocyte
DA Parry, CV Logan, BE Hayward, M Shires, H Landolsi, C Diggle, I Carr, ...
The American Journal of Human Genetics 89 (3), 451-458, 2011
Novel PMS2 pseudogenes can conceal recessive mutations causing a distinctive childhood cancer syndrome
M De Vos, BE Hayward, S Picton, E Sheridan, DT Bonthron
The American Journal of Human Genetics 74 (5), 954-964, 2004
Mutations in ISPD cause Walker-Warburg syndrome and defective glycosylation of α-dystroglycan
T Roscioli, EJ Kamsteeg, K Buysse, I Maystadt, J van Reeuwijk, ...
Nature genetics 44 (5), 581-585, 2012
ZMYND10 is mutated in primary ciliary dyskinesia and interacts with LRRC6
MA Zariwala, HY Gee, M Kurkowiak, DA Al-Mutairi, MW Leigh, TW Hurd, ...
The American Journal of Human Genetics 93 (2), 336-345, 2013
Brown-Vialetto-Van Laere syndrome, a ponto-bulbar palsy with deafness, is caused by mutations in c20orf54
P Green, M Wiseman, YJ Crow, H Houlden, S Riphagen, JP Lin, ...
The American Journal of Human Genetics 86 (3), 485-489, 2010
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