Austen Worth

Whole-genome sequencing of patients with rare diseases in a national health system

Keith W. Muir, William J. Astle, Mark I. McCarthy, 2020, Nature.

Whole genome sequencing of a sporadic primary immunodeficiency cohort

Antonis Pantazis, Keith W. Muir, David J. Williams, 2020, Nature.

Two novel activating mutations in the Wiskott-Aldrich syndrome protein result in congenital neutropenia.

Christine Kinnon, Austen Worth, A. Worth, 2006, Blood.

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

Crina Samarghitean, Vera Matser, Scott Hackett, 2018, The Journal of allergy and clinical immunology.