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Gareth W Highnam
Gareth W Highnam
Genomics
Verified email at revenantlabs.net
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Cited by
Cited by
Year
Natural variation in genome architecture among 205 Drosophila melanogaster Genetic Reference Panel lines
W Huang, A Massouras, Y Inoue, J Peiffer, M Rŕmia, AM Tarone, ...
Genome research 24 (7), 1193-1208, 2014
6232014
The landscape of human STR variation
T Willems, M Gymrek, G Highnam, D Mittelman, Y Erlich, ...
Genome research 24 (11), 1894-1904, 2014
2912014
Accurate human microsatellite genotypes from high-throughput resequencing data using informed error profiles
G Highnam, C Franck, A Martin, C Stephens, A Puthige, D Mittelman
Nucleic acids research 41 (1), e32-e32, 2013
1672013
Polymorphic tandem repeats within gene promoters act as modifiers of gene expression and DNA methylation in humans
J Quilez, A Guilmatre, P Garg, G Highnam, M Gymrek, Y Erlich, RS Joshi, ...
Nucleic acids research 44 (8), 3750-3762, 2016
1382016
TAF1 variants are associated with dysmorphic features, intellectual disability, and neurological manifestations
JA O’Rawe, Y Wu, MJ Dörfel, AF Rope, PYB Au, JS Parboosingh, S Moon, ...
The American Journal of Human Genetics 97 (6), 922-932, 2015
1242015
An analytical framework for optimizing variant discovery from personal genomes
G Highnam, JJ Wang, D Kusler, J Zook, V Vijayan, N Leibovich, ...
Nature communications 6 (1), 6275, 2015
1102015
Deep phylogenetic analysis of haplogroup G1 provides estimates of SNP and STR mutation rates on the human Y-chromosome and reveals migrations of Iranic speakers
O Balanovsky, M Zhabagin, A Agdzhoyan, M Chukhryaeva, ...
PLoS One 10 (4), e0122968, 2015
772015
Tandem repeat variation in human and great ape populations and its impact on gene expression divergence
TB Sonay, T Carvalho, MD Robinson, MP Greminger, M Krützen, ...
Genome research 25 (11), 1591-1599, 2015
712015
Big data challenges and opportunities in high-throughput sequencing
RM Ward, R Schmieder, G Highnam, D Mittelman
Systems Biomedicine 1 (1), 29-34, 2013
482013
Rapid Multiplexed Genotyping of Simple Tandem Repeats using Capture and High‐Throughput Sequencing
A Guilmatre, G Highnam, C Borel, D Mittelman, AJ Sharp
Human mutation 34 (9), 1304-1311, 2013
332013
Consortium, GP (2014) The landscape of human STR variation
T Willems, M Gymrek, G Highnam, D Mittelman, Y Erlich
Genome Res 24 (11), 1894-1904, 0
29
Mittelman D, Erlich Y. 2014
T Willems, M Gymrek, G Highnam, 1000 Genomes Project Consortium
The landscape of human STR variation. Genome Res 24, 1894-1904, 0
19
A Burkholderia pseudomallei colony variant necessary for gastric colonization
CR Austin, AW Goodyear, IL Bartek, A Stewart, MD Sutherland, EB Silva, ...
MBio 6 (1), 10.1128/mbio. 02462-14, 2015
172015
Personal genomes and precision medicine
G Highnam, D Mittelman
Genome biology 13, 1-3, 2012
142012
A variant in TAF1 is associated with a new syndrome with severe intellectual disability and characteristic dysmorphic features
J Ou’Rawe, Y Wu, A Rope, LT Jimenez Barrón, J Swensen, H Fang, ...
bioRxiv, 014050, 2015
72015
Polymorphic tandem repeats within gene promoters act as modifiers of gene expression and DNA methylation in humans
J Quilez Oliete, A Guilmatre, P Garg, G Highnam, M Gymrek, Y Erlich, ...
Nucleic Acids Res. 2016; 44 (8): 3750-3762, 2016
2016
Whole genome analysis of an extended pedigree with Prader–Willi Syndrome, hereditary hemochromatosis, and dysautonomia-like symptoms
H Fang, Y Wu, M Yoon, LT Jiménez-Barrón, JA O’Rawe, G Highnam, ...
bioRxiv, 019182, 2015
2015
An analytical framework for optimizing variant discovery from personal genomes
JM Zook, G Highnam, J Wang, D Kusler, V Vijayan, N Leibovich, ...
Justin M. Zook, Gareth Highnam, Jason Wang, Dean Kusler, Vinaya Vijayan, Nir …, 2015
2015
Optimizing analysis pipelines for improved variant discovery
GWA Highnam
Virginia Polytechnic Institute and State University, 2014
2014
Comprehensive whole genome sequencing of a three generation pedigree: genetic components of a new syndrome with Severe Developmental Delay and Dysmorphic Features
JA O'Rawe, Y Wu, A Rope, LTJ Barrón, D Mittelman, G Highnam, H Fang, ...
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