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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.

Nagarajan P, Winkler TW, Bentley AR, Miller CL, Kraja AT, Schwander K, Lee S, Wang W, Brown MR, Morrison JL, et al. A large-scale genome-wide study of gene-sleep duration interactions for blood pressure in 811,405 individuals from diverse populations. Mol Psychiatry. 2025 .

Hu Y, Haessler J, Lundin JI, Darst BF, Whitsel EA, Grove M, Guan W, Xia R, Szeto M, Raffield LM, et al. Methylome-wide association analyses of lipids and modifying effects of behavioral factors in diverse race and ethnicity participants. Clin Epigenetics. 2025 ;17(1):54.

Georgakis MK, Malik R, Bounkari OEl, Hasbani NR, Li J, Huffman JE, Shakt G, Tack RWP, Kimball TN, Asare Y, et al. Rare damaging CCR2 variants are associated with lower lifetime cardiovascular risk. Genome Med. 2025 ;17(1):27.

Li X, Chen H, Selvaraj MSunitha, Van Buren E, Zhou H, Wang Y, Sun R, McCaw ZR, Yu Z, Jiang M-Z, et al. A statistical framework for multi-trait rare variant analysis in large-scale whole-genome sequencing studies. Nat Comput Sci. 2025 ;5(2):125-143.

Zhang X, Brody JA, Graff M, Highland HM, Chami N, Xu H, Wang Z, Ferrier KR, Chittoor G, Josyula NShilpa, et al. Whole genome sequencing analysis of body mass index identifies novel African ancestry-specific risk allele. Nat Commun. 2025 ;16(1):3470.

2024

Sun X, Bulekova K, Yang J, Lai M, Pitsillides AN, Liu X, Zhang Y, Guo X, Yong Q, Raffield LM, et al. Association analysis of mitochondrial DNA heteroplasmic variants: methods and application. medRxiv. 2024 .

Mack TM, Raddatz MA, Pershad Y, Nachun DC, Taylor KD, Guo X, Shuldiner AR, O'Connell JR, Kenny EE, Loos RJF, et al. Epigenetic and proteomic signatures associate with clonal hematopoiesis expansion rate. Nat Aging. 2024 .

Huang Y-J, Kurniansyah N, Goodman MO, Spitzer BW, Wang J, Stilp A, Laurie C, de Vries PS, Chen H, Min Y-I, et al. The expected polygenic risk score (ePRS) framework: an equitable metric for quantifying polygenetic risk via modeling of ancestral makeup. medRxiv. 2024 .

Zhang Y, Dron JS, Bellows BK, Khera AV, Liu J, Balte PP, Oelsner EC, Amr SSamir, Lebo MS, Nagy A, et al. Familial Hypercholesterolemia Variant and Cardiovascular Risk in Individuals With Elevated Cholesterol. JAMA Cardiol. 2024 .

Nagarajan P, Kurniansyah N, Lee J, Gharib SA, Xu Y, Zhang Y, Spitzer B, Faquih T, Zhou H, Boerwinkle E, et al. Gene-Excessive Sleepiness Interactions Suggest Treatment Targets for Obstructive Sleep Apnea Subtype. medRxiv. 2024 .

Weinstock JS, Chaudhry SA, Ioannou M, Viskadourou M, Reventun P, Jakubek YA, L Liggett A, Laurie C, Broome JG, Khan A, et al. The Genetic Determinants and Genomic Consequences of Non-Leukemogenic Somatic Point Mutations. medRxiv. 2024 .

Suzuki K, Hatzikotoulas K, Southam L, Taylor HJ, Yin X, Lorenz KM, Mandla R, Huerta-Chagoya A, Melloni GEM, Kanoni S, et al. Genetic drivers of heterogeneity in type 2 diabetes pathophysiology. Nature. 2024 .

Keaton JM, Kamali Z, Xie T, Vaez A, Williams A, Goleva SB, Ani A, Evangelou E, Hellwege JN, Yengo L, et al. Genome-wide analysis in over 1 million individuals of European ancestry yields improved polygenic risk scores for blood pressure traits. Nat Genet. 2024 .

Yu Z, Vromman A, Nguyen NQuynh H, Schuermans A, Rentz T, Vellarikkal SK, Uddin MMesbah, Niroula A, Griffin G, Honigberg MC, et al. Human Plasma Proteomic Profile of Clonal Hematopoiesis. bioRxiv. 2024 .

Nagarajan P, Winkler TW, Bentley AR, Miller CL, Kraja AT, Schwander K, Lee S, Wang W, Brown MR, Morrison JL, et al. A Large-Scale Genome-Wide Study of Gene-Sleep Duration Interactions for Blood Pressure in 811,405 Individuals from Diverse Populations. medRxiv. 2024 .

Hrytsenko Y, Shea B, Elgart M, Kurniansyah N, Lyons G, Morrison AC, Carson AP, Haring B, Mitchell BD, Psaty BM, et al. Machine learning models for predicting blood pressure phenotypes by combining multiple polygenic risk scores. Sci Rep. 2024 ;14(1):12436.

Lundin JI, Peters U, Hu Y, Ammous F, Avery CL, Benjamin EJ, Bis JC, Brody JA, Carlson C, Cushman M, et al. Methylation patterns associated with C-reactive protein in racially and ethnically diverse populations. Epigenetics. 2024 ;19(1):2333668.

Rocheleau G, Clarke SL, Auguste G, Hasbani NR, Morrison AC, Heath AS, Bielak LF, Iyer KR, Young EP, Stitziel NO, et al. Rare variant contribution to the heritability of coronary artery disease. Nat Commun. 2024 ;15(1):8741.

Jones AC, Patki A, Srinivasasainagendra V, Tiwari HK, Armstrong ND, Chaudhary NS, Limdi NA, Hidalgo BA, Davis B, Cimino JJ, et al. Single-Ancestry versus Multi-Ancestry Polygenic Risk Scores for CKD in Black American Populations. J Am Soc Nephrol. 2024 .

Kwak SHeon, Hernandez-Cancela RB, DiCorpo DA, Condon DE, Merino J, Wu P, Brody JA, Yao J, Guo X, Ahmadizar F, et al. Time-to-Event Genome-Wide Association Study for Incident Cardiovascular Disease in People With Type 2 Diabetes. Diabetes Care. 2024 .

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.

Liu X, Sun X, Zhang Y, Jiang W, Lai M, Wiggins KL, Raffield LM, Bielak LF, Zhao W, Pitsillides A, et al. Association Between Whole Blood-Derived Mitochondrial DNA Copy Number, Low-Density Lipoprotein Cholesterol, and Cardiovascular Disease Risk. J Am Heart Assoc. 2023 :e029090.

Zhang Y, Liu X, Wiggins KL, Kurniansyah N, Guo X, Rodrigue AL, Zhao W, Yanek LR, Ratliff SM, Pitsillides A, et al. Association of Mitochondrial DNA Copy Number With Brain MRI Markers and Cognitive Function: A Meta-analysis of Community-Based Cohorts. Neurology. 2023 .

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