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Proceedings of the National Academy of Sciences of the United States of America|January 23, 2020
De novo mutations across 1,465 diverse genomes reveal mutational insights and reductions in the Amish founder populationMichael D Kessler, Douglas P Loesch, James A Perry, et al.Molecular Therapy : the Journal of the American Society of Gene Therapy|February 16, 2025
Immunological responses and clinical outcomes in dogs with osteosarcoma receiving standard therapy and a Listeria vaccine expressing HER2Nicola J Mason, Laura Selmic, Audrey Ruple, et al.Science (New York, N.Y.)|December 2, 2021
Genetic and functional evidence links a missense variant in <i>B4GALT1</i> to lower LDL and fibrinogenMay E Montasser, Cristopher V Van Hout, Lawrence Miloscio, et al.Nature Communications|August 25, 2018
Deep-coverage whole genome sequences and blood lipids among 16,324 individualsPradeep Natarajan, Gina M Peloso, Seyedeh Maryam Zekavat, et al.American Journal of Human Genetics|October 1, 2019
Impact of Rare and Common Genetic Variants on Diabetes Diagnosis by Hemoglobin A1c in Multi-Ancestry Cohorts: The Trans-Omics for Precision Medicine ProgramChloé Sarnowski, Aaron Leong, Laura M Raffield, et al.Nature Methods|December 31, 2025
cellSTAAR: incorporating single-cell-sequencing-based functional data to boost power in rare variant association testing of noncoding regionsEric Van Buren, Yi Zhang, Xihao Li, et al.Ebiomedicine|January 8, 2021
Whole genome sequence analyses of eGFR in 23,732 people representing multiple ancestries in the NHLBI trans-omics for precision medicine (TOPMed) consortiumBridget M Lin, Kelsey E Grinde, Jennifer A Brody, et al.American Journal of Human Genetics|September 28, 2021
Whole-genome sequencing in diverse subjects identifies genetic correlates of leukocyte traits: The NHLBI TOPMed programAnna V Mikhaylova, Caitlin P McHugh, Linda M Polfus, et al.Communications Biology|July 28, 2022
Whole genome sequence association analysis of fasting glucose and fasting insulin levels in diverse cohorts from the NHLBI TOPMed programDaniel DiCorpo, Sheila M Gaynor, Emily M Russell, et al.Nature Communications|April 13, 2021
Chromosome Xq23 is associated with lower atherogenic lipid concentrations and favorable cardiometabolic indicesPradeep Natarajan, Akhil Pampana, Sarah E Graham, et al.Pageof 7