This study identifies 53 genetic loci associated with hearing loss, including 15 novel ones, using genome-wide and exome-sequencing data from multiple cohorts.

Communications Biology · Jun 3, 2022Peer-reviewedGenetic & Genomic Medicine

GWAS of serum ALT and AST reveals an association of SLC30A10 Thr95Ile with hypermanganesemia symptoms

Lucas D. Ward, Ho-Chou Tu, Chelsea B. Quenneville, Shira Tsour, Alexander O. Flynn-Carroll, Margaret M. Parker, Aimée M. Deaton, Patrick A. J. Haslett, Luca A. Lotta, Niek Verweij, Manuel A. R. Ferreira, RGC Management and Leadership Team, Goncalo Abecasis, Michael Cantor, Giovanni Coppola, , Paul Nioi

This study identifies a rare variant in SLC30A10 associated with elevated ALT/AST and hypermanganesemia symptoms, suggesting broader health impacts beyond diagnosed cases.

Nature Communications · Jul 27, 2021Peer-reviewedGenetics

A genome-wide association study of polycystic ovary syndrome identified from electronic health records

Yanfei Zhang, Kevin Ho, Jacob M. Keaton, Dustin N. Hartzel, Felix R. Day, Anne E. Justice, Navya Shilpa Josyula, Sarah A. Pendergrass, Ky’Era V. Actkins, Lea Karatheodoris Davis, Digna R. Velez Edwards, Brody Holohan, Andrea H. Ramirez, Ian B. Stanaway, David R. Crosslin, , Ming Ta Michael Lee

This paper identifies novel genetic variants associated with PCOS using EHR-based GWAS and validates them in independent cohorts.

American Journal of Obstetrics and Gynecology · Apr 11, 2020Peer-reviewedGenetic & Genomic Medicine

GSTM1 copy number is not associated with risk of kidney failure in a large cohort

Yanfei Zhang, Waleed Zafar, Dustin N. Hartzel, Marc S. Williams, Adrienne Tin, Alex R. Chang, Ming Ta Michael Lee

This study investigates the association between GSTM1 copy number and kidney failure risk in a large cohort, finding no significant association after adjustments.

Frontiers in Genetics · Aug 30, 2019Peer-reviewedGenetics