Henry Lester Kirchner

This study identifies 14 genome-wide significant loci for obstructive sleep apnea, including three independent of BMI, and highlights genetic pathways involving obesity, neurological, and craniofacial factors.

The paper examines the association between psychiatric polygenic scores and healthcare utilization and comorbidity burden in individuals of European ancestry, finding significant links for major depressive disorder.

The paper identifies FLNC loss-of-function variants in a clinical population and finds they are associated with increased odds of arrhythmogenic cardiomyopathy phenotypes.

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

This study evaluates polygenic risk scores for schizophrenia in electronic health records, finding strong associations with schizophrenia and pleiotropic effects on other psychiatric and medical conditions.

The paper analyzes cryptic relatedness in a large exome cohort, identifies numerous close relationships, reconstructs pedigrees, and demonstrates their utility in improving mutation phasing and identifying de novo mutations.

The paper identifies and analyzes exonic copy number variants (CNVs) in 50,726 DiscovEHR participants, linking them to clinical traits and phenotypes.