Sri V. V. Deevi

Rare variant contribution to human disease in 281,104 UK Biobank exomes

Quanli Wang, Ryan S. Dhindsa, Keren Carss et al. · Nature · 2021 · 550 citations · Full text

Comprehensive Rare Variant Analysis via Whole-Genome Sequencing to Determine the Molecular Pathology of Inherited Retinal Disease

Keren Carss, Gavin Arno, Marie Erwood et al. · The American Journal of Human Genetics · 2016 · 463 citations · Full text

Whole-genome Sequencing, Allelic Variant, Genetic Disorder +11

Loss-of-function nuclear factor κB subunit 1 (NFKB1) variants are the most common monogenic cause of common variable immunodeficiency in Europeans

Paul Tuijnenburg, Hana Lango Allen, Siobhan O. Burns et al. · Journal of Allergy and Clinical Immunology · 2018 · 227 citations · Full text

Primary Immunodeficiency, Disease Susceptibility, Immune Cell Development +15

Diagnostic high-throughput sequencing of 2396 patients with bleeding, thrombotic, and platelet disorders

Kate Downes, Karyn Mégy, Daniel Duarte et al. · Blood · 2019 · 210 citations · Full text

A high-throughput sequencing test for diagnosing inherited bleeding, thrombotic, and platelet disorders

Ilenia Simeoni, Jonathan Stephens, Fengyuan Hu et al. · Blood · 2016 · 182 citations · Full text