Anna Maw

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

Point‐of‐Care Ultrasound for Hospitalists: A Position Statement of the Society of Hospital Medicine

Nilam J. Soni, Daniel Schnobrich, Benji K. Mathews et al. · Journal of Hospital Medicine · 2019 · 201 citations · Full text

Medicine, Internal Medicine, Medical Education +16

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

Comparison of four handheld point-of-care ultrasound devices by expert users

Minh-Phuong T. Le, Lara Voigt, Robert Nathanson et al. · The Ultrasound Journal · 2022 · 97 citations · Full text

Medicine, Radiology, Diagnostic Imaging +16