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Filters: Author is Reiner, Alexander P and Keyword is Humans [Clear All Filters]

2014

Lange LA, Hu Y, Zhang H, Xue C, Schmidt EM, Tang Z-Z, Bizon C, Lange EM, Smith JD, Turner EH, et al. Whole-exome sequencing identifies rare and low-frequency coding variants associated with LDL cholesterol. Am J Hum Genet. 2014 ;94(2):233-45.

2015

Tang W, Cushman M, Green D, Rich SS, Lange LA, Yang Q, Tracy RP, Tofler GH, Basu S, Wilson JG, et al. Gene-centric approach identifies new and known loci for FVIII activity and VWF antigen levels in European Americans and African Americans. Am J Hematol. 2015 ;90(6):534-40.

2017

Mousas A, Ntritsos G, Chen M-H, Song C, Huffman JE, Tzoulaki I, Elliott P, Psaty BM, Auer PL, Johnson AD, et al. Rare coding variants pinpoint genes that control human hematological traits. PLoS Genet. 2017 ;13(8):e1006925.

2021

Goodrich JK, Singer-Berk M, Son R, Sveden A, Wood J, England E, Cole JB, Weisburd B, Watts N, Caulkins L, et al. Determinants of penetrance and variable expressivity in monogenic metabolic conditions across 77,184 exomes. Nat Commun. 2021 ;12(1):3505.

Hu Y, Stilp AM, McHugh CP, Rao S, Jain D, Zheng X, Lane J, de Bellefon SMéric, Raffield LM, Chen M-H, et al. Whole-genome sequencing association analysis of quantitative red blood cell phenotypes: The NHLBI TOPMed program. Am J Hum Genet. 2021 ;108(5):874-893.

Mikhaylova AV, McHugh CP, Polfus LM, Raffield LM, Boorgula MPreethi, Blackwell TW, Brody JA, Broome J, Chami N, Chen M-H, et al. Whole-genome sequencing in diverse subjects identifies genetic correlates of leukocyte traits: The NHLBI TOPMed program. Am J Hum Genet. 2021 ;108(10):1836-1851.

2022

Thibord F, Klarin D, Brody JA, Chen M-H, Levin MG, Chasman DI, Goode EL, Hveem K, Teder-Laving M, Martinez-Perez A, et al. Cross-Ancestry Investigation of Venous Thromboembolism Genomic Predictors. Circulation. 2022 ;146(16):1225-1242.

Li Z, Li X, Zhou H, Gaynor SM, Selvaraj MSunitha, Arapoglou T, Quick C, Liu Y, Chen H, Sun R, et al. A framework for detecting noncoding rare-variant associations of large-scale whole-genome sequencing studies. Nat Methods. 2022 ;19(12):1599-1611.

Mahajan A, Spracklen CN, Zhang W, C Y Ng M, Petty LE, Kitajima H, Yu GZ, Rüeger S, Speidel L, Kim YJin, et al. Multi-ancestry genetic study of type 2 diabetes highlights the power of diverse populations for discovery and translation. Nat Genet. 2022 ;54(5):560-572.

Hindy G, Dornbos P, Chaffin MD, Liu DJ, Wang M, Selvaraj MSunitha, Zhang D, Park J, Aguilar-Salinas CA, Antonacci-Fulton L, et al. Rare coding variants in 35 genes associate with circulating lipid levels-A multi-ancestry analysis of 170,000 exomes. Am J Hum Genet. 2022 ;109(1):81-96.

Wang Z, Choi SWan, Chami N, Boerwinkle E, Fornage M, Redline S, Bis JC, Brody JA, Psaty BM, Kim W, et al. The Value of Rare Genetic Variation in the Prediction of Common Obesity in European Ancestry Populations. Front Endocrinol (Lausanne). 2022 ;13:863893.

DiCorpo D, Gaynor SM, Russell EM, Westerman KE, Raffield LM, Majarian TD, Wu P, Sarnowski C, Highland HM, Jackson A, et al. Whole genome sequence association analysis of fasting glucose and fasting insulin levels in diverse cohorts from the NHLBI TOPMed program. Commun Biol. 2022 ;5(1):756.

2023

Weinstock JS, Gopakumar J, Burugula BBharathi, Uddin MMesbah, Jahn N, Belk JA, Bouzid H, Daniel B, Miao Z, Ly N, et al. Aberrant activation of TCL1A promotes stem cell expansion in clonal haematopoiesis. Nature. 2023 ;616(7958):755-763.

Young WJ, Haessler J, Benjamins J-W, Repetto L, Yao J, Isaacs A, Harper AR, Ramirez J, Garnier S, Van Duijvenboden S, et al. Genetic architecture of spatial electrical biomarkers for cardiac arrhythmia and relationship with cardiovascular disease. Nat Commun. 2023 ;14(1):1411.

Weinstock JS, Laurie CA, Broome JG, Taylor KD, Guo X, Shuldiner AR, O'Connell JR, Lewis JP, Boerwinkle E, Barnes KC, et al. The genetic determinants of recurrent somatic mutations in 43,693 blood genomes. Sci Adv. 2023 ;9(17):eabm4945.

Jakubek YA, Zhou Y, Stilp A, Bacon J, Wong JW, Ozcan Z, Arnett D, Barnes K, Bis JC, Boerwinkle E, et al. Mosaic chromosomal alterations in blood across ancestries using whole-genome sequencing. Nat Genet. 2023 ;55(11):1912-1919.

2025

Shetty NS, Gaonkar M, Pampana A, Patel N, Morrison AC, Reiner AP, Carson AP, Yu B, Psaty BM, Kooperberg C, et al. Cardiovascular Risk Factors and Genetic Risk in Transthyretin V142I Carriers. JACC Heart Fail. 2025 ;13(1):91-101.

Jakubek YA, Ma X, Stilp AM, Yu F, Bacon J, Wong JW, Aguet F, Ardlie K, Arnett DK, Barnes K, et al. Genomic and phenotypic correlates of mosaic loss of chromosome Y in blood. Am J Hum Genet. 2025 ;112(2):276-290.

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