Alice Gardham

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 · 484 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Whole-genome sequencing of a sporadic primary immunodeficiency cohort

James Thaventhiran, Hana Lango Allen, Oliver S. Burren et al. · Nature · 2020 · 242 citations · Full text

Life Sciences, Immunology, Molecular Genetics +13

Coffin-Siris Syndrome and the BAF Complex: Genotype-Phenotype Study in 63 Patients

Gijs W.E. Santen, Emmelien Aten, Anneke T. Vulto‐van Silfhout et al. · Human Mutation · 2013 · 220 citations

Life Sciences, Genetics, Molecular Genetics +17

Phenotypic Characterization of <i>EIF2AK4</i> Mutation Carriers in a Large Cohort of Patients Diagnosed Clinically With Pulmonary Arterial Hypertension

Charaka Hadinnapola, Marta Bleda, Matthias Haimel et al. · Circulation · 2017 · 145 citations · Full text

Life Sciences, Genetics, Molecular Genetics +16

The ARID1B spectrum in 143 patients: from nonsyndromic intellectual disability to Coffin–Siris syndrome

Pleuntje J. van der Sluijs, Sandra Jansen, Samantha A. Schrier Vergano et al. · Genetics in Medicine · 2018 · 134 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17