Prati
Regina Regan
Regina Regan
Genomics Medicine Ireland
Potvrđena adresa e-pošte na genomicsmed.ie
Naslov
Citirano
Citirano
Godina
Functional impact of global rare copy number variation in autism spectrum disorders
D Pinto, AT Pagnamenta, L Klei, R Anney, D Merico, R Regan, J Conroy, ...
Nature 466 (7304), 368-372, 2010
23302010
Analysis of shared heritability in common disorders of the brain
Brainstorm Consortium, V Anttila, B Bulik-Sullivan, HK Finucane, ...
Science 360 (6395), eaap8757, 2018
13902018
Convergence of genes and cellular pathways dysregulated in autism spectrum disorders
D Pinto, E Delaby, D Merico, M Barbosa, A Merikangas, L Klei, ...
The American Journal of Human Genetics 94 (5), 677-694, 2014
10712014
Recurrent rearrangements of chromosome 1q21. 1 and variable pediatric phenotypes
HC Mefford, AJ Sharp, C Baker, A Itsara, Z Jiang, K Buysse, S Huang, ...
New England Journal of Medicine 359 (16), 1685-1699, 2008
8392008
A genome-wide linkage and association scan reveals novel loci for autism
LA Weiss, DE Arking, ...
Nature 461 (7265), 802-808, 2009
7872009
Discovery of previously unidentified genomic disorders from the duplication architecture of the human genome
AJ Sharp, S Hansen, RR Selzer, Z Cheng, R Regan, JA Hurst, H Stewart, ...
Nature genetics 38 (9), 1038-1042, 2006
7312006
A genome-wide scan for common alleles affecting risk for autism
R Anney, L Klei, D Pinto, R Regan, J Conroy, TR Magalhaes, C Correia, ...
Human molecular genetics 19 (20), 4072-4082, 2010
7222010
A recurrent 15q13. 3 microdeletion syndrome associated with mental retardation and seizures
AJ Sharp, HC Mefford, K Li, C Baker, C Skinner, RE Stevenson, ...
Nature genetics 40 (3), 322-328, 2008
6482008
Subtle chromosomal rearrangements in children with unexplained mental retardation
SJL Knight, R Regan, A Nicod, SW Horsley, L Kearney, T Homfray, ...
The Lancet 354 (9191), 1676-1681, 1999
5981999
A new chromosome 17q21. 31 microdeletion syndrome associated with a common inversion polymorphism
DA Koolen, LELM Vissers, R Pfundt, N De Leeuw, SJL Knight, R Regan, ...
Nature genetics 38 (9), 999-1001, 2006
5252006
Polygenic transmission disequilibrium confirms that common and rare variation act additively to create risk for autism spectrum disorders
DJ Weiner, EM Wigdor, S Ripke, RK Walters, JA Kosmicki, J Grove, ...
Nature genetics 49 (7), 978-985, 2017
4682017
Individual common variants exert weak effects on the risk for autism spectrum disorders
R Anney, L Klei, D Pinto, J Almeida, E Bacchelli, G Baird, N Bolshakova, ...
Human molecular genetics 21 (21), 4781-4792, 2012
4462012
Clinical studies on submicroscopic subtelomeric rearrangements: a checklist
BBA de Vries, SM White, SJL Knight, R Regan, T Homfray, ID Young, ...
Journal of medical genetics 38 (3), 145-150, 2001
3532001
An optimized set of human telomere clones for studying telomere integrity and architecture
SJL Knight, CM Lese, KS Precht, J Kuc, Y Ning, S Lucas, R Regan, ...
The American Journal of Human Genetics 67 (2), 320-332, 2000
3492000
Meta-analysis of GWAS of over 16,000 individuals with autism spectrum disorder highlights a novel locus at 10q24. 32 and a significant overlap with schizophrenia
Molecular autism 8, 1-17, 2017
3382017
Recurrent reciprocal deletions and duplications of 16p13. 11: the deletion is a risk factor for MR/MCA while the duplication may be a rare benign variant
FD Hannes, AJ Sharp, HC Mefford, T de Ravel, CA Ruivenkamp, ...
Journal of medical genetics 46 (4), 223-232, 2009
3072009
Development and clinical application of an innovative fluorescence in situ hybridization technique which detects submicroscopic rearrangements involving telomeres
SJL Knight, SW Horsley, R Regan, NM Lawrie, EJ Maher, DLN Cardy, ...
European Journal of Human Genetics 5 (1), 1-8, 1997
2371997
A novel approach of homozygous haplotype sharing identifies candidate genes in autism spectrum disorder
JP Casey, T Magalhaes, JM Conroy, R Regan, N Shah, R Anney, ...
Human genetics 131, 565-579, 2012
2292012
IBD risk loci are enriched in multigenic regulatory modules encompassing putative causative genes
Y Momozawa, J Dmitrieva, E Théâtre, V Deffontaine, S Rahmouni, ...
Nature communications 9 (1), 2427, 2018
2172018
MRC BHF Heart Protection Study of cholesterol-lowering therapy and of antioxidant vitamin supplementation in a wide range of patients at increased risk of coronary heart …
T Meade, P Sleight, R Collins, J Armitage, S Parish, R Peto, L Youngman, ...
European Heart Journal, 1999
2081999
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