Regina Regan
Regina Regan
Genomics Medicine Ireland
Geverifieerd e-mailadres voor genomicsmed.ie
TitelGeciteerd doorJaar
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, 2010
17232010
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
6772008
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, 2006
6122006
A genome-wide linkage and association scan reveals novel loci for autism
LA Weiss, DE Arking, ...
Nature 461 (7265), 802, 2009
6102009
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
5722014
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
5481999
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
5322010
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, 2008
5272008
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, 2006
4182006
Analysis of shared heritability in common disorders of the brain
V Anttila, B Bulik-Sullivan, HK Finucane, RK Walters, J Bras, L Duncan, ...
Science 360 (6395), eaap8757, 2018
3512018
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
3282000
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
3182001
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
3052012
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
2452009
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, 1-8, 1997
2221997
MRC BHFHeart Protection Study of cholesterol-lowering therapy and of antioxidant vitamin supplementation in a wide range of patients at increased risk of coronary heart diseaseá…
T Meade, P Sleight, R Collins, J Armitage, S Parish, R Peto, L Youngman, ...
European Heart Journal 20 (10), 1999
1791999
Characterization of a recurrent 15q24 microdeletion syndrome
AJ Sharp, RR Selzer, JA Veltman, S Gimelli, G Gimelli, P Striano, ...
Human molecular genetics 16 (5), 567-572, 2007
1752007
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 (4), 565-579, 2012
1592012
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, 2017
1572017
SW-ARRAY: a dynamic programming solution for the identification of copy-number changes in genomic DNA using array comparative genome hybridization data
TS Price, R Regan, R Mott, ┼ Hedman, B Honey, RJ Daniels, L Smith, ...
Nucleic acids research 33 (11), 3455-3464, 2005
1482005
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Artikelen 1–20