Scherer, Stephen W.
Scherer, Stephen W.
The Hospital for Sick Children, Genetics and Genome Biology Program, University of Toronto
Email verificata su sickkids.ca - Home page
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Anno
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
49522006
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
33842004
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
25272010
Structural variation in the human genome
L Feuk, AR Carson, SW Scherer
Nature Reviews Genetics 7 (2), 85-97, 2006
23912006
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
21862015
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
21182007
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
20502010
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
20262010
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
20201999
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
20032014
Genetic relationship between five psychiatric disorders estimated from genome-wide SNPs.
CDG the Psychiatric Genomics
Nature Genetics 45 (9), 984-94, 2013
1928*2013
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
19002007
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
18942008
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
17661997
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
15042007
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
12561996
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
12471993
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), 2018
11202018
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
10931996
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
10632015
Il sistema al momento non pu eseguire l'operazione. Riprova pi tardi.
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