Ilenia Simeoni

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

Distinct Epigenomic Features in End-Stage Failing Human Hearts

Mehregan Movassagh, Mun‐Kit Choy, David A. Knowles et al. · Circulation · 2011 · 280 citations · Full text

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

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

A gain-of-function variant in DIAPH1 causes dominant macrothrombocytopenia and hearing loss

Simon Stritt, Paquita Nurden, Ernest Turro et al. · Blood · 2016 · 154 citations · Full text