|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
|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
|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
|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
|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
|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), 1-18, 2020
|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
|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
|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, ...
|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
|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
|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), 1-12, 2014
|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
|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
|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
|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
|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), 1-9, 2017
|OMSV enables accurate and comprehensive identification of large structural variations from nanochannel-based single-molecule optical maps|
L Li, AKY Leung, TP Kwok, YYY Lai, IK Pang, GTY Chung, ACY Mak, ...
Genome biology 18 (1), 1-19, 2017
|Secondhand smoke exposure and asthma outcomes among African-American and Latino children with asthma|
AM Neophytou, SS Oh, MJ White, ACY Mak, D Hu, S Huntsman, C Eng, ...
Thorax 73 (11), 1041-1048, 2018
|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