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2025

Choi SHoan, Jurgens SJ, Xiao L, Hill MC, Haggerty CM, Sveinbjörnsson G, Morrill VN, Marston NA, Weng L-C, Pirruccello JP, et al. Sequencing in over 50,000 cases identifies coding and structural variation underlying atrial fibrillation risk. Nat Genet. 2025 ;57(3):548-562.

Choi SHoan, Jurgens SJ, Xiao L, Hill MC, Haggerty CM, Sveinbjörnsson G, Morrill VN, Marston NA, Weng L-C, Pirruccello JP, et al. Sequencing in over 50,000 cases identifies coding and structural variation underlying atrial fibrillation risk. Nat Genet. 2025 ;57(3):548-562.

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.

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.

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.

2024

Leung YY, Lee WP, Kuzma AB, Nicaretta H, Valladares O, Gangadharan P, Qu L, Zhao Y, Ren Y, Cheng PL, et al. Alzheimer's Disease Sequencing Project Release 4 Whole Genome Sequencing Dataset. medRxiv. 2024 .

Leung YY, Lee WP, Kuzma AB, Nicaretta H, Valladares O, Gangadharan P, Qu L, Zhao Y, Ren Y, Cheng PL, et al. Alzheimer's Disease Sequencing Project Release 4 Whole Genome Sequencing Dataset. medRxiv. 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 .

Malamon JS, Farrell JJ, Xia LCharlie, Dombroski BA, Das RG, Way J, Kuzma AB, Valladares O, Leung YYee, Scanlon AJ, et al. A comparative study of structural variant calling in WGS from Alzheimer's disease families. Life Sci Alliance. 2024 ;7(5).

Malamon JS, Farrell JJ, Xia LCharlie, Dombroski BA, Das RG, Way J, Kuzma AB, Valladares O, Leung YYee, Scanlon AJ, et al. A comparative study of structural variant calling in WGS from Alzheimer's disease families. Life Sci Alliance. 2024 ;7(5).

Segar MW, Usman MShariq, Patel KV, Khan MShahzeb, Butler J, Manjunath L, Lam CSP, Verma S, Willett DW, Kao D, et al. Development and validation of a machine learning-based approach to identify high-risk diabetic cardiomyopathy phenotype. Eur J Heart Fail. 2024 .

Khan SS, Matsushita K, Sang Y, Ballew SH, Grams ME, Surapaneni A, Blaha MJ, Carson AP, Chang AR, Ciemins E, et al. Development and Validation of the American Heart Association's PREVENT Equations. Circulation. 2024 ;149(6):430-449.

Levy D, Kirmani S, Huan T, Van Amburg J, Joehanes R, Uddin MMesbah, Nguyen NQuynh, Yu B, Brody J, Fornage M, et al. Epigenome-wide DNA Methylation Association Study of CHIP Provides Insight into Perturbed Gene Regulation. Res Sq. 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 .

de Vries PS, Reventun P, Brown MR, Heath AS, Huffman JE, Le NQ, Bebo A, Brody JA, Temprano-Sagrera G, Raffield LM, et al. {A genetic association study of circulating coagulation Factor VIII and von Willebrand Factor levels. Blood. 2024 .

de Vries PS, Reventun P, Brown MR, Heath AS, Huffman JE, Le NQ, Bebo A, Brody JA, Temprano-Sagrera G, Raffield LM, et al. {A genetic association study of circulating coagulation Factor VIII and von Willebrand Factor levels. Blood. 2024 .

de Vries PS, Reventun P, Brown MR, Heath AS, Huffman JE, Le NQ, Bebo A, Brody JA, Temprano-Sagrera G, Raffield LM, et al. {A genetic association study of circulating coagulation Factor VIII and von Willebrand Factor levels. Blood. 2024 .

Katsumata Y, Fardo DW, Shade LMP, Wu X, Karanth SD, Hohman TJ, Schneider JA, Bennett DA, Farfel JM, Gauthreaux K, et al. {Genetic associations with dementia-related proteinopathy: Application of item response theory. Alzheimers Dement. 2024 .

Katsumata Y, Fardo DW, Shade LMP, Wu X, Karanth SD, Hohman TJ, Schneider JA, Bennett DA, Farfel JM, Gauthreaux K, et al. {Genetic associations with dementia-related proteinopathy: Application of item response theory. Alzheimers Dement. 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 .

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 .

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 .

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 .

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 .

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