Siobhan O. Burns

A robust model for read count data in exome sequencing experiments and implications for copy number variant calling

Vincent Plagnol, James Curtis, Michael P. Epstein et al. · Bioinformatics · 2012 · 753 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Whole-genome sequencing of patients with rare diseases in a national health system

Ernest Turro, Karyn Mégy, Olga Shamardina et al. · Nature · 2020 · 582 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

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

Clinical spectrum and features of activated phosphoinositide 3-kinase δ syndrome: A large patient cohort study

Tanya Coulter, Anita Chandra, Chris M. Bacon et al. · Journal of Allergy and Clinical Immunology · 2016 · 450 citations · Full text

Medicine, Immunology, Pediatrics +15

Configuration of human dendritic cell cytoskeleton by Rho GTPases, the WAS protein, and differentiation

Siobhan O. Burns, Adrian J. Thrasher, Michael P. Blundell et al. · Blood · 2001 · 322 citations · Full text

Life Sciences, Cell Biology, Immunology +16