Siobhan O. Burns

Overview

Best Publications

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

  Vincent Plagnol;James Curtis;Michael Epstein;Kin Y. Mok

  813
  Citations

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

  Tanya I Coulter;Anita Chandra;Chris M Bacon;Judith Babar

  468
  Citations

• WASP: a key immunological multitasker

  Adrian J. Thrasher;Siobhan O. Burns;Siobhan O. Burns

  465
  Citations

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

  Ernest Turro;William J Astle;Karyn Megy;Stefan Graf

  392
  Citations

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

  Siobhan Burns;Adrian J. Thrasher;Michael P. Blundell;Laura Machesky

  386
  Citations

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

  Laura Gámez-Díaz;Dietrich August;Polina Stepensky;Shoshana Revel-Vilk

  315
  Citations

• Two novel activating mutations in the Wiskott-Aldrich syndrome protein result in congenital neutropenia

  Phil J. Ancliff;Michael P. Blundell;Giles O. Cory;Yolanda Calle

  264
  Citations

• Whole-genome sequencing of a sporadic primary immunodeficiency cohort

  Thaventhiran Jed.;H Lango Allen;O S Burren;W Rae

  239
  Citations

• X-linked thrombocytopenia (XLT) due to WAS mutations: Clinical characteristics, long-term outcome, and treatment options

  Michael H. Albert;Tanja C. Bittner;Shigeaki Nonoyama;Lucia Dora Notarangelo

  235
  Citations

• Loss-of-function nuclear factor κB subunit 1 (NFKB1) variants are the most common monogenic cause of common variable immunodeficiency in Europeans

  Paul Tuijnenburg;Hana Lango Allen;Hana Lango Allen;Siobhan O. Burns;Daniel Greene;Daniel Greene

  235
  Citations

• COVID-19 in patients with primary and secondary immunodeficiency: The United Kingdom experience.

  Adrian M. Shields;Siobhan O. Burns;Siobhan O. Burns;Sinisa Savic;Alex G. Richter

  226
  Citations

• Maturation of DC is associated with changes in motile characteristics and adherence.

  Siobhan Burns;Siobhan Burns;Siobhan Burns;Samantha J. Hardy;Joanna Buddle;Kwee L. Yong

  213
  Citations

• Disease Evolution and Response to Rapamycin in Activated Phosphoinositide 3-Kinase δ Syndrome: The European Society for Immunodeficiencies-Activated Phosphoinositide 3-Kinase δ Syndrome Registry

  Maria Elena Maccari;Hassan Abolhassani;Hassan Abolhassani;Asghar Aghamohammadi;Alessandro Aiuti

  203
  Citations

• British Lung Foundation/United Kingdom Primary Immunodeficiency Network Consensus Statement on the Definition, Diagnosis, and Management of Granulomatous-Lymphocytic Interstitial Lung Disease in Common Variable Immunodeficiency Disorders

  John R. Hurst;Nisha Verma;David Lowe;Helen E. Baxendale

  190
  Citations

• Mechanisms of WASp-mediated hematologic and immunologic disease

  Siobhan Burns;Giles O. Cory;William Vainchenker;Adrian J. Thrasher

  180
  Citations

• The leukocyte podosome.

  Yolanda Calle;Siobhan Burns;Adrian J. Thrasher;Gareth E. Jones

  168
  Citations

• WIP Regulates the Stability and Localization of WASP to Podosomes in Migrating Dendritic Cells

  Hsiu-Chuan Chou;Inés M. Antón;Mark R. Holt;Claudia Curcio

  152
  Citations

• Immune deficiency and autoimmunity in patients with CTLA-4 (CD152) mutations

  Nisha Verma;Siobhan O Burns;Lucy Sk Walker;David M Sansom

  136
  Citations

• Wiskott–Aldrich Syndrome: Immunodeficiency resulting from defective cell migration and impaired immunostimulatory activation

  Gerben Bouma;Siobhan O. Burns;Siobhan O. Burns;Adrian J. Thrasher;Adrian J. Thrasher

  134
  Citations

• B cell–intrinsic deficiency of the Wiskott-Aldrich syndrome protein (WASp) causes severe abnormalities of the peripheral B-cell compartment in mice

  Mike Recher;Siobhan O. Burns;Miguel A. de la Fuente;Miguel A. de la Fuente;Stefano Volpi

  130
  Citations