Marie Erwood

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

Complex structural variants in Mendelian disorders: identification and breakpoint resolution using short- and long-read genome sequencing

Alba Sanchis‐Juan, Jonathan Stephens, Courtney E. French et al. · Genome Medicine · 2018 · 190 citations · Full text

Characterization of the clinical and immunologic phenotype and management of 157 individuals with 56 distinct heterozygous NFKB1 mutations

Tiziana Lorenzini, Manfred Fliegauf, Nils Klammer et al. · Journal of Allergy and Clinical Immunology · 2020 · 120 citations · Full text

Autoimmune Disease, Genetic Disorder, Medicine +11

Bayesian Inference Associates Rare <i>KDR</i> Variants With Specific Phenotypes in Pulmonary Arterial Hypertension

Emilia M. Swietlik, Daniel Greene, Na Zhu et al. · Circulation Genomic and Precision Medicine · 2020 · 44 citations · Full text