Natural variation in genome architecture among 205 Drosophila melanogaster Genetic Reference Panel lines W Huang, A Massouras, Y Inoue, J Peiffer, M Ràmia, AM Tarone, ... Genome research 24 (7), 1193-1208, 2014 | 649 | 2014 |
The landscape of human STR variation T Willems, M Gymrek, G Highnam, D Mittelman, Y Erlich, ... Genome research 24 (11), 1894-1904, 2014 | 293 | 2014 |
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 | 169 | 2013 |
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 | 144 | 2016 |
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 | 128 | 2015 |
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 | 112 | 2015 |
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 | 78 | 2015 |
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 | 72 | 2015 |
Big data challenges and opportunities in high-throughput sequencing RM Ward, R Schmieder, G Highnam, D Mittelman Systems Biomedicine 1 (1), 29-34, 2013 | 49 | 2013 |
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 | 34 | 2013 |
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 | 31 | |
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 | 20 | |
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 | 18 | 2015 |
Personal genomes and precision medicine G Highnam, D Mittelman Genome biology 13, 1-3, 2012 | 14 | 2012 |
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 | 7 | 2015 |
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, ... | | |