Author
University of California, San FranciscoORCID 0000-0003-2049-3992Unclaimed ORCID profile · follow to get notified of new preprints
Mutual co-authors in cluster
6 papers
Recent·Most cited
C. Guo, Uma P. Arora, Xiaoheng Cheng…·Vijay G. Sankaran
This study identifies a BACH2-NRF2 axis regulating fetal hemoglobin activation through genetic and functional analyses in a large multi-ancestry cohort.
Rebecca Keener, Surya B. Chhetri, Carla J. Connelly…·Alexis J. Battle
The paper validates novel telomere length regulation genes POP5 and KBTBD6 identified through trans-ancestry GWAS using functional experiments in blood cells.
Tetsushi Nakao, Alexander G. Bick, Margaret A. Taub…·Brian Custer
The paper uses bidirectional Mendelian randomization to show LTL lengthening increases CHIP risk, while CHIP accelerates LTL shortening, with modest mediation between CHIP and CAD via LTL.
Adrienne M. Stilp, Leslie S. Emery, Jai Broome…·Cathy C. Laurie
The paper describes a system for harmonizing phenotype data across multiple studies in the TOPMed program, enabling reproducible and shared phenotype data for over 80 studies.
Daniel Taliun, Daniel Harris, Michael D. Kessler…·Ruth J. F. Loos
Over 400 million variants, 97% below 1% frequency, emerge from deep whole-genome sequencing of 53,831 diverse TOPMed participants; TOPMed haplotypes enable imputation down to ~0.01% frequency.
CC Martino, Cecília Salete Alencar, Paula Rodrigues Andrade da Cunha Loureiro…·for the International Component of the NHLBI Recipient Epidemiology and Donor Evaluation Study (REDS-III)
The paper develops an automated pyrosequencing technique to confirm sickle cell disease and detect HBB gene mutations, showing high accuracy in identifying hemoglobin variants.