Sarah A. Tishkoff

The paper identifies ciliary proteins that regulate melanogenesis in melanocytes and reveals moonlighting roles for Joubert Syndrome proteins in endolysosomal organization.

This study identifies genes under selection in chimpanzee subspecies at a contact zone, linking environmental variation to genetic divergence and adaptation.

The paper identifies a FOG2 variant associated with coronary microvascular disease and shows it alters hypoxia-mediated gene transcription and angiogenesis.

This study maps expression and splicing QTLs in East Africans and finds population-specific genetic variation related to immunity, metabolism, and pigmentation.

The paper examines genetic variation and natural selection at SARS-CoV-2 host genes in diverse populations and links selected variants to clinical phenotypes in COVID-19.

The paper identifies a West African-associated regulatory variant with a strong female-specific effect on BMI and fat mass in Brazilian admixed populations.

The paper analyzes African genetic contributions to the Americas, showing regional ancestry patterns and admixture dynamics linked to historical factors.

The paper introduces a framework to rank genomic features by differential effect size, showing that pseudocounts optimize the balance between fold-change and difference sorting.