Jeffrey Robert MacDonald
Jeffrey Robert MacDonald
The Hospital for Sick Children
Verified email at - Homepage
Cited by
Cited by
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
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
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, 2009
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
A copy number variation map of the human genome
M Zarrei, JR MacDonald, D Merico, SW Scherer
Nature Reviews Genetics 16 (3), 172-183, 2015
Whole genome sequencing resource identifies 18 new candidate genes for autism spectrum disorder
RKC Yuen, D Merico, M Bookman, JL Howe, B Thiruvahindrapuram, ...
Nature Neuroscience 20 (4), 602-611, 2017
Comprehensive assessment of array-based platforms and calling algorithms for detection of copy number variants
D Pinto, K Darvishi, X Shi, D Rajan, D Rigler, T Fitzgerald, AC Lionel, ...
Nature biotechnology 29 (6), 512-520, 2011
Towards a comprehensive structural variation map of an individual human genome
AW Pang, JR MacDonald, D Pinto, J Wei, MA Rafiq, DF Conrad, H Park, ...
Genome biology 11 (5), 1, 2010
Genome-wide detection of segmental duplications and potential assembly errors in the human genome sequence
J Cheung, X Estivill, R Khaja, JR MacDonald, K Lau, LC Tsui, SW Scherer
Genome Biol 4 (4), R25, 2003
Human chromosome 7: DNA sequence and biology
SW Scherer, J Cheung, JR MacDonald, LR Osborne, K Nakabayashi, ...
Science 300 (5620), 767-772, 2003
Discovery of human inversion polymorphisms by comparative analysis of human and chimpanzee DNA sequence assemblies
L Feuk, JR MacDonald, T Tang, AR Carson, M Li, G Rao, R Khaja, ...
PLoS genetics 1 (4), e56, 2005
Genome assembly comparison identifies structural variants in the human genome
R Khaja, J Zhang, JR MacDonald, Y He, AM Joseph-George, J Wei, ...
Nature genetics 38 (12), 1413-1418, 2006
Genome-wide characteristics of de novo mutations in autism
RKC Yuen, D Merico, H Cao, G Pellecchia, B Alipanahi, ...
npj Genomic Medicine 1, 16027, 2016
Disruption of the ASTN2/TRIM32 locus at 9q33. 1 is a risk factor in males for Autism Spectrum Disorders, ADHD and other neurodevelopmental phenotypes
AC Lionel, K Tammimies, AK Vaags, JA Rosenfeld, JW Ahn, D Merico, ...
Human Molecular Genetics, ddt669, 2013
A Comprehensive Workflow for Read Depth-Based Identification of Copy-Number Variation from Whole-Genome Sequence Data
B Trost, S Walker, Z Wang, B Thiruvahindrapuram, JR MacDonald, ...
The American Journal of Human Genetics 102 (1), 142-155, 2018
Human sterile alpha motif domain 9, a novel gene identified as down-regulated in aggressive fibromatosis, is absent in the mouse
C Li, J MacDonald, R Wei, J Ray, K Lau, C Kandel, R Koffman, S Bell, ...
BMC genomics 8 (1), 92, 2007
Recent segmental and gene duplications in the mouse genome
J Cheung, MD Wilson, J Zhang, R Khaja, JR MacDonald, HHQ Heng, ...
Genome biology 4 (8), 1, 2003
Identification of C7orf11 (TTDN1) gene mutations and genetic heterogeneity in nonphotosensitive trichothiodystrophy
K Nakabayashi, D Amann, Y Ren, U Saarialho-Kere, N Avidan, S Gentles, ...
The American Journal of Human Genetics 76 (3), 510-516, 2005
De novo and rare inherited copy-number variations in the hemiplegic form of cerebral palsy
M Zarrei, DL Fehlings, K Mawjee, L Switzer, B Thiruvahindrapuram, ...
Genetics in Medicine 20 (2), 172, 2018
A high-resolution copy-number variation resource for clinical and population genetics
M Uddin, B Thiruvahindrapuram, S Walker, Z Wang, P Hu, S Lamoureux, ...
Genetics in Medicine 17 (9), 747-752, 2014
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