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Scherer, Stephen W.
Scherer, Stephen W.
The Hospital for Sick Children, Genetics and Genome Biology Program, University of Toronto
Geverifieerd e-mailadres voor sickkids.ca - Homepage
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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
51462006
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
34742004
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
27242010
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
26082015
Structural variation in the human genome
L Feuk, AR Carson, SW Scherer
Nature Reviews Genetics 7 (2), 85-97, 2006
25262006
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
22932014
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
22132007
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
21602010
Genetic relationship between five psychiatric disorders estimated from genome-wide SNPs.
CDG the Psychiatric Genomics
Nature Genetics 45 (9), 984-94, 2013
21422013
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
21212010
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
20571999
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
19922008
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
19822007
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
18251997
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
1570*2007
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
13111996
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
12561993
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
12122015
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
11732014
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
11022020
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