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Scherer, Stephen W.
Scherer, Stephen W.
The Hospital for Sick Children, Genetics and Genome Biology Program, University of Toronto
Verified email at sickkids.ca - Homepage
Title
Cited by
Cited by
Year
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
52832006
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
35162004
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), 1236-1241, 2015
30242015
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
29332010
Structural variation in the human genome
L Feuk, AR Carson, SW Scherer
Nature Reviews Genetics 7 (2), 85-97, 2006
26132006
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
25272014
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
22522007
Genetic relationship between five psychiatric disorders estimated from genome-wide SNPs.
CDG the Psychiatric Genomics
Nature Genetics 45 (9), 984-94, 2013
22282013
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
22282010
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
21842010
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
20841999
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
20462008
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
20072007
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
18371997
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
1604*2007
Large-scale exome sequencing study implicates both developmental and functional changes in the neurobiology of autism
FK Satterstrom, JA Kosmicki, J Wang, MS Breen, S De Rubeis, JY An, ...
Cell, 2020
14242020
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
13181996
The human splicing code reveals new insights into the genetic determinants of disease
HY Xiong, B Alipanahi, LJ Lee, H Bretschneider, D Merico, RKC Yuen, ...
Science 347 (6218), 1254806, 2015
13082015
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
12891993
The Database of Genomic Variants: a curated collection of structural variation in the human genome
JR MacDonald, R Ziman, RKC Yuen, L Feuk, SW Scherer
Nucleic acids research 42 (D1), D986-D992, 2014
12742014
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