Sequencing of 53,831 diverse genomes from the NHLBI TOPMed Program D Taliun, DN Harris, MD Kessler, J Carlson, ZA Szpiech, R Torres, ... Nature 590 (7845), 290-299, 2021 | 1510 | 2021 |
Inherited causes of clonal haematopoiesis in 97,691 whole genomes AG Bick, JS Weinstock, SK Nandakumar, CP Fulco, EL Bao, SM Zekavat, ... Nature 586 (7831), 763-768, 2020 | 497 | 2020 |
SOX9 governs differentiation stage-specific gene expression in growth plate chondrocytes via direct concomitant transactivation and repression VYL Leung, B Gao, KKH Leung, IG Melhado, SL Wynn, TYK Au, ... PLoS genetics 7 (11), e1002356, 2011 | 249 | 2011 |
Genome-wide structural variation detection by genome mapping on nanochannel arrays ACY Mak, YYY Lai, ET Lam, TP Kwok, AKY Leung, A Poon, Y Mostovoy, ... Genetics 202 (1), 351-362, 2016 | 149 | 2016 |
Type 2 and interferon inflammation regulate SARS-CoV-2 entry factor expression in the airway epithelium SP Sajuthi, P DeFord, Y Li, ND Jackson, MT Montgomery, JL Everman, ... Nature communications 11 (1), 5139, 2020 | 143 | 2020 |
Whole-genome sequencing of pharmacogenetic drug response in racially diverse children with asthma ACY Mak, MJ White, WL Eckalbar, ZA Szpiech, SS Oh, M Pino-Yanes, ... American journal of respiratory and critical care medicine 197 (12), 1552-1564, 2018 | 128* | 2018 |
Effects of the absence of apolipoprotein e on lipoproteins, neurocognitive function, and retinal function ACY Mak, CR Pullinger, LF Tang, JS Wong, RC Deo, JM Schwarz, ... JAMA neurology 71 (10), 1228-1236, 2014 | 99 | 2014 |
Differential and overlapping expression pattern of SOX2 and SOX9 in inner ear development ACY Mak, IYY Szeto, B Fritzsch, KSE Cheah Gene Expression Patterns 9 (6), 444-453, 2009 | 96 | 2009 |
Type 2 and interferon inflammation strongly regulate SARS-CoV-2 related gene expression in the airway epithelium SP Sajuthi, P DeFord, ND Jackson, MT Montgomery, JL Everman, ... Biorxiv, 2020 | 79 | 2020 |
A comprehensive evaluation of the genetic architecture of sudden cardiac arrest FN Ashar, RN Mitchell, CM Albert, C Newton-Cheh, JA Brody, ... European heart journal 39 (44), 3961-3969, 2018 | 74 | 2018 |
Genome of the Komodo dragon reveals adaptations in the cardiovascular and chemosensory systems of monitor lizards AL Lind, YYY Lai, Y Mostovoy, AK Holloway, A Iannucci, ACY Mak, ... Nature ecology & evolution 3 (8), 1241-1252, 2019 | 71 | 2019 |
Air pollution and lung function in minority youth with asthma in the GALA II (Genes–Environments and Admixture in Latino Americans) and SAGE II (Study of African Americans … AM Neophytou, MJ White, SS Oh, N Thakur, JM Galanter, KK Nishimura, ... American journal of respiratory and critical care medicine 193 (11), 1271-1280, 2016 | 70 | 2016 |
Dysregulated invertebrate tropomyosin–dectin-1 interaction confers susceptibility to allergic diseases N Gour, S Lajoie, U Smole, M White, D Hu, P Goddard, S Huntsman, ... Science immunology 3 (20), eaam9841, 2018 | 63 | 2018 |
A genome-wide association and admixture mapping study of bronchodilator drug response in African Americans with asthma ML Spear, D Hu, M Pino-Yanes, S Huntsman, C Eng, AM Levin, ... The pharmacogenomics journal 19 (3), 249-259, 2019 | 62 | 2019 |
Finished sequence and assembly of the DUF1220-rich 1q21 region using a haploid human genome M O’Bleness, VB Searles, CM Dickens, D Astling, D Albracht, ACY Mak, ... BMC genomics 15, 1-12, 2014 | 61 | 2014 |
On the cross-population generalizability of gene expression prediction models KL Keys, ACY Mak, MJ White, WL Eckalbar, AW Dahl, J Mefford, ... PLoS genetics 16 (8), e1008927, 2020 | 51 | 2020 |
Brief Report: Whole‐Exome Sequencing for Identification of Potential Causal Variants for Diffuse Cutaneous Systemic Sclerosis ACY Mak, PLF Tang, C Cleveland, MH Smith, M Kari Connolly, ... Arthritis & rheumatology 68 (9), 2257-2262, 2016 | 49 | 2016 |
Genetic determinants of telomere length from 109,122 ancestrally diverse whole-genome sequences in TOPMed MA Taub, MP Conomos, R Keener, KR Iyer, JS Weinstock, LR Yanek, ... Cell Genomics 2 (1), 2022 | 46 | 2022 |
Ancestry-dependent enrichment of deleterious homozygotes in runs of homozygosity ZA Szpiech, ACY Mak, MJ White, D Hu, C Eng, EG Burchard, ... The American Journal of Human Genetics 105 (4), 747-762, 2019 | 46 | 2019 |
Identification of a novel locus associated with skin colour in African-admixed populations N Hernandez-Pacheco, C Flores, S Alonso, C Eng, ACY Mak, ... Scientific reports 7 (1), 44548, 2017 | 44 | 2017 |