Scherer, Stephen W.
Scherer, Stephen W.
The Hospital for Sick Children, Peter Gilgan Centre for Research and Learning (PGCRL), 686 Bay St
Verified email at sickkids.ca - Homepage
TitleCited byYear
Global variation in copy number in the human genome
R Redon, S Ishikawa, KR Fitch, L Feuk, GH Perry, TD Andrews, H Fiegler, ...
Nature 444 (7118), 444-454, 2006
44352006
Detection of large-scale variation in the human genome
AJ Iafrate, L Feuk, MN Rivera, ML Listewnik, PK Donahoe, Y Qi, ...
Nature Genetics 36 (9), 949-951, 2004
31682004
Structural variation in the human genome
L Feuk, AR Carson, SW Scherer
Nature Reviews Genetics 7 (2), 85-97, 2006
20082006
Consensus statement: chromosomal microarray is a first-tier clinical diagnostic test for individuals with developmental disabilities or congenital anomalies
DT Miller, MP Adam, S Aradhya, LG Biesecker, AR Brothman, NP Carter, ...
The American Journal of Human Genetics 86 (5), 749-764, 2010
19732010
The diploid genome sequence of an individual human
S Levy, G Sutton, PC Ng, L Feuk, AL Halpern, BP Walenz, N Axelrod, ...
PLoS Biology 5 (10), e254, 2007
19112007
Mutations in ABC1 in Tangier disease and familial high-density lipoprotein deficiency
A Brooks-Wilson, M Marcil, SM Clee, LH Zhang, K Roomp, M Van Dam, ...
Nature Genetics 22 (4), 336-345, 1999
18591999
Origins and functional impact of copy number variation in the human genome
DF Conrad, D Pinto, R Redon, L Feuk, O Gokcumen, Y Zhang, J Aerts, ...
Nature 464 (7289), 704-712, 2010
17872010
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
17232010
Relative impact of nucleotide and copy number variation on gene expression phenotypes
BE Stranger, MS Forrest, M Dunning, CE Ingle, C Beazley, N Thorne, ...
Science 315 (5813), 848-853, 2007
16882007
Structural variation of chromosomes in autism spectrum disorder
CR Marshall, A Noor, JB Vincent, AC Lionel, L Feuk, J Skaug, M Shago, ...
The American Journal of Human Genetics 82 (2), 477-488, 2008
16662008
Germline and somatic mutations in the tyrosine kinase domain of the MET proto-oncogene in papillary renal
L Schmidt, FM Duhl, F Chen, T Kishidaz, G Glenn, P Choyke, SW Scherer, ...
Nature Genetics 16, 68-73, 1997
15721997
Genetic relationship between five psychiatric disorders estimated from genome-wide SNPs.
CDG the Psychiatric Genomics
Nature Genetics 45 (9), 984-94, 2013
1442*2013
Mapping autism risk loci using genetic linkage and chromosomal rearrangements
P Szatmari, AD Paterson, L Zwaigenbaum, W Roberts, J Brian, XQ Liu, ...
Nature Genetics 39 (3), 319-328, 2007
13612007
Synaptic, transcriptional and chromatin genes disrupted in autism
S De Rubeis, X He, AP Goldberg, CS Poultney, K Samocha, AE Cicek, ...
Nature 515 (7526), 209-215, 2014
12672014
An atlas of genetic correlations across human diseases and traits
B Bulik-Sullivan, HK Finucane, V Anttila, A Gusev, FR Day, PR Loh, ...
Nature genetics 47 (11), 1236, 2015
11382015
Mutations in the human Sonic Hedgehog gene cause holoprosencephaly
E Roessler, E Belloni, K Gaudenz, P Jay, P Berta, SW Scherer, LC Tsui, ...
Nature Genetics 14 (3), 357-360, 1996
11361996
Structure and chromosomal localization of the human constitutive endothelial nitric oxide synthase gene.
PA Marsden, HH Heng, SW Scherer, RJ Stewart, AV Hall, XM Shi, LC Tsui, ...
Journal of Biological Chemistry 268 (23), 17478-17488, 1993
11291993
MADR2 Maps to 18q21 and Encodes a TGFβ–Regulated MAD–Related Protein That Is Functionally Mutated in Colorectal Carcinoma
K Eppert, SW Scherer, H Ozcelik, R Pirone, P Hoodless, H Kim, LC Tsui, ...
Cell 86 (4), 543-552, 1996
9851996
Copy number variation: new insights in genome diversity
JL Freeman, GH Perry, L Feuk, R Redon, SA McCarroll, DM Altshuler, ...
Genome Research 16 (8), 949-961, 2006
8672006
Mutations in SUFU predispose to medulloblastoma
MD Taylor, L Liu, C Raffel, C Hui, TG Mainprize, X Zhang, R Agatep, ...
Nature Genetics 31 (3), 306-310, 2002
8042002
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