Rodney D. Gilbert

Factors influencing success of clinical genome sequencing across a broad spectrum of disorders

Jenny C. Taylor, Hilary C. Martin, Stefano Lise et al. · Nature Genetics · 2015 · 388 citations · Full text

Life Sciences, Genetics, Molecular Genetics +14

Genomic and clinical profiling of a national nephrotic syndrome cohort advocates a precision medicine approach to disease management

Agnieszka Bierżyńska, Hugh J. McCarthy, Katrina Soderquest et al. · Kidney International · 2017 · 288 citations · Full text

Medicine, Molecular Genetics, Nephrology +14

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

Mutations in PIK3R1 Cause SHORT Syndrome

David A. Dyment, Amanda Smith, Diana Alcantara et al. · The American Journal of Human Genetics · 2013 · 197 citations · Full text

Life Sciences, Genetics, Molecular Genetics +16

Hemolytic Uremic Syndrome Associated with Invasive Pneumococcal Disease: The United Kingdom Experience

Aoife Waters, Larissa Kerecuk, David Luk et al. · The Journal of Pediatrics · 2007 · 177 citations

Medicine, Hematology, Infectious Diseases +13