Shane A. McCarthy
Title
Cited by
Cited by
Year
An integrated map of genetic variation from 1,092 human genomes
1000 Genomes Project Consortium
Nature 491 (7422), 56-65, 2012
65952012
A global reference for human genetic variation
1000 Genomes Project Consortium
Nature 526 (7571), 68-74, 2015
64152015
An integrated map of structural variation in 2,504 human genomes
PH Sudmant, T Rausch, EJ Gardner, RE Handsaker, A Abyzov, ...
Nature 526 (7571), 75-81, 2015
12632015
A reference panel of 64,976 haplotypes for genotype imputation
S McCarthy, S Das, W Kretzschmar, O Delaneau, AR Wood, A Teumer, ...
Nature genetics 48 (10), 1279-1283, 2016
11352016
The UK10K project identifies rare variants in health and disease
UK10K consortium
Nature 526 (7571), 82-90, 2015
6782015
Insights into hominid evolution from the gorilla genome sequence
A Scally, JY Dutheil, LDW Hillier, GE Jordan, I Goodhead, J Herrero, ...
Nature 483 (7388), 169-175, 2012
6522012
Reference-based phasing using the Haplotype Reference Consortium panel
PR Loh, P Danecek, PF Palamara, C Fuchsberger, YA Reshef, ...
Nature genetics 48 (11), 1443, 2016
4632016
Integrative annotation of variants from 1092 humans: application to cancer genomics
E Khurana, Y Fu, V Colonna, XJ Mu, HM Kang, T Lappalainen, A Sboner, ...
Science 342 (6154), 2013
3382013
Whole‐genome sequencing identifies EN1 as a determinant of bone density and fracture
HF Zheng, V Forgetta, YH Hsu, K Estrada, A Rosello‐Diez, PJ Leo, ...
Nature 526 (7571), 112-117, 2015
2862015
Common genetic variation drives molecular heterogeneity in human iPSCs
H Kilpinen, A Goncalves, A Leha, V Afzal, K Alasoo, S Ashford, S Bala, ...
Nature 546 (7658), 370-375, 2017
2482017
Integrating sequence and array data to create an improved 1000 Genomes Project haplotype reference panel
O Delaneau, J Marchini, GA McVean, P Donnelly, G Lunter, JL Marchini, ...
Nature communications 5, 3934, 2014
2442014
Improved imputation of low-frequency and rare variants using the UK10K haplotype reference panel
J Huang, B Howie, S McCarthy, Y Memari, K Walter, JL Min, P Danecek, ...
Nature communications 6 (1), 1-9, 2015
2212015
Punctuated bursts in human male demography inferred from 1,244 worldwide Y-chromosome sequences
GD Poznik, Y Xue, FL Mendez, TF Willems, A Massaia, MAW Sayres, ...
Nature genetics 48 (6), 593-599, 2016
2132016
Health and population effects of rare gene knockouts in adult humans with related parents
VM Narasimhan, KA Hunt, D Mason, CL Baker, KJ Karczewski, ...
Science 352 (6284), 474-477, 2016
1902016
A calibrated human Y-chromosomal phylogeny based on resequencing
W Wei, Q Ayub, Y Chen, S McCarthy, Y Hou, I Carbone, Y Xue, ...
Genome research, 2012
1542012
An organelle-specific protein landscape identifies novel diseases and molecular mechanisms
K Boldt, J Van Reeuwijk, Q Lu, K Koutroumpas, TMT Nguyen, Y Texier, ...
Nature communications 7 (1), 1-13, 2016
1132016
Exploring the genetic architecture of inflammatory bowel disease by whole-genome sequencing identifies association at ADCY7
Y Luo, KM de Lange, L Jostins, L Moutsianas, J Randall, NA Kennedy, ...
Nature genetics 49 (2), 186-192, 2017
942017
X-linked primary ciliary dyskinesia due to mutations in the cytoplasmic axonemal dynein assembly factor PIH1D3
C Olcese, MP Patel, A Shoemark, S Kiviluoto, M Legendre, HJ Williams, ...
Nature communications 8 (1), 1-15, 2017
822017
Whole-genome sequence-based analysis of thyroid function
PN Taylor, E Porcu, S Chew, PJ Campbell, M Traglia, SJ Brown, ...
Nature communications 6 (1), 1-11, 2015
712015
Monoallelic and biallelic mutations in MAB21L2 cause a spectrum of major eye malformations
J Rainger, D Pehlivan, S Johansson, H Bengani, L Sanchez-Pulido, ...
The American Journal of Human Genetics 94 (6), 915-923, 2014
692014
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