Colin Church

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

BTS/ICS guideline for the ventilatory management of acute hypercapnic respiratory failure in adults

A Davidson, S W Banham, Mark Elliott et al. · Thorax · 2016 · 396 citations · Full text

Identification of rare sequence variation underlying heritable pulmonary arterial hypertension

Stefan Gräf, Matthias Haimel, Marta Bleda et al. · Nature Communications · 2018 · 364 citations · Full text

Hypertension, Genetics, Genetic Epidemiology +20

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 · 144 citations · Full text

Characterization of <i>GDF2</i> Mutations and Levels of BMP9 and BMP10 in Pulmonary Arterial Hypertension

Joshua Hodgson, Emilia M. Swietlik, Richard M. Salmon et al. · American Journal of Respiratory and Critical Care Medicine · 2019 · 118 citations · Full text