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 · 727 citations · Full text

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 · 463 citations · Full text

Whole-genome Sequencing, Allelic Variant, Genetic Disorder +11

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 · 432 citations · Full text

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

The extended phenotype of LPS-responsive beige-like anchor protein (LRBA) deficiency

Laura Gámez‐Díaz, Dietrich August, Polina Stepensky et al. · Journal of Allergy and Clinical Immunology · 2016 · 285 citations · Full text

Protein Function, Protein Expression, Genetic Disorder +10