Michael Richards

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

Heterozygous splice mutation in <i>PIK3R1</i> causes human immunodeficiency with lymphoproliferation due to dominant activation of PI3K

C. Lucas, Yu Zhang, Anthony Venida et al. · The Journal of Experimental Medicine · 2014 · 285 citations · Full text

Life Sciences, Immunology, Molecular Genetics +17

<scp>T</scp>horacic<scp>S</scp>ociety of<scp>A</scp>ustralia and<scp>N</scp>ew<scp>Z</scp>ealand oxygen guidelines for acute oxygen use in adults: ‘Swimming between the flags’

Richard Beasley, Jimmy Chien, James Douglas et al. · Respirology · 2015 · 202 citations · Full text

Medicine, Perioperative Medicine, Respiratory Therapy +15

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

Physiological effects of titrated oxygen via nasal high‐flow cannulae in <scp>COPD</scp> exacerbations: <scp>A</scp> randomized controlled cross‐over trial

Janine Pilcher, Leonie Eastlake, Michael Richards et al. · Respirology · 2017 · 107 citations

Medicine, Internal Medicine, Respiratory Therapy +17