Richard Sandford

Evidence for 28 genetic disorders discovered by combining healthcare and research data

Joanna Kaplanis, Kaitlin E. Samocha, Laurens Wiel et al. · Nature · 2020 · 674 citations · Full text

Life Sciences, Genetics, Molecular Genetics +14

Cardiovascular, skeletal, and renal defects in mice with a targeted disruption of the <i>Pkd1</i> gene

Catherine A. Boulter, Sharon Mulroy, Sandra Webb et al. · Proceedings of the National Academy of Sciences · 2001 · 308 citations · Full text

Medicine, Genetics, Molecular Genetics +14

Histone Lysine Methylases and Demethylases in the Landscape of Human Developmental Disorders

Víctor Faùndes, William G. Newman, Laura Bernardini et al. · The American Journal of Human Genetics · 2017 · 278 citations · Full text

Life Sciences, Genetics, Molecular Biology +14

Quantification of Homozygosity in Consanguineous Individuals with Autosomal Recessive Disease

C. Geoffrey Woods, James J. Cox, Kelly Springell et al. · The American Journal of Human Genetics · 2006 · 269 citations · Full text

Life Sciences, Genetics, Molecular Genetics +9

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