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Siobhan Burns
Siobhan Burns
Verified email at ucl.ac.uk
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Year
A robust model for read count data in exome sequencing experiments and implications for copy number variant calling
V Plagnol, J Curtis, M Epstein, KY Mok, E Stebbings, S Grigoriadou, ...
Bioinformatics 28 (21), 2747-2754, 2012
6842012
Clinical spectrum and features of activated phosphoinositide 3-kinase δ syndrome: a large patient cohort study
TI Coulter, A Chandra, CM Bacon, J Babar, J Curtis, N Screaton, ...
Journal of Allergy and Clinical Immunology 139 (2), 597-606. e4, 2017
5982017
WASP: a key immunological multitasker
AJ Thrasher, SO Burns
Nature Reviews Immunology 10 (3), 182-192, 2010
4442010
Comprehensive rare variant analysis via whole-genome sequencing to determine the molecular pathology of inherited retinal disease
KJ Carss, G Arno, M Erwood, J Stephens, A Sanchis-Juan, S Hull, K Megy, ...
The American Journal of Human Genetics 100 (1), 75-90, 2017
4082017
Configuration of human dendritic cell cytoskeleton by Rho GTPases, the WAS protein, and differentiation
S Burns, AJ Thrasher, MP Blundell, L Machesky, GE Jones
Blood, The Journal of the American Society of Hematology 98 (4), 1142-1149, 2001
4002001
Disease evolution and response to rapamycin in activated phosphoinositide 3-kinase δ syndrome: the european society for immunodeficiencies-activated phosphoinositide 3-kinase δ …
ME Maccari, H Abolhassani, A Aghamohammadi, A Aiuti, O Aleinikova, ...
Frontiers in immunology 9, 543, 2018
3462018
The extended phenotype of LPS-responsive beige-like anchor protein (LRBA) deficiency
L Gámez-Díaz, D August, P Stepensky, S Revel-Vilk, MG Seidel, M Noriko, ...
Journal of Allergy and Clinical Immunology 137 (1), 223-230, 2016
2922016
Two novel activating mutations in the Wiskott-Aldrich syndrome protein result in congenital neutropenia
PJ Ancliff, MP Blundell, GO Cory, Y Calle, A Worth, H Kempski, S Burns, ...
Blood 108 (7), 2182-2189, 2006
2592006
X-linked thrombocytopenia (XLT) due to WAS mutations: clinical characteristics, long-term outcome, and treatment options
MH Albert, TC Bittner, S Nonoyama, LD Notarangelo, S Burns, K Imai, ...
Blood, The Journal of the American Society of Hematology 115 (16), 3231-3238, 2010
2402010
COVID-19 in patients with primary and secondary immunodeficiency: the United Kingdom experience
AM Shields, SO Burns, S Savic, AG Richter, A Anantharachagan, ...
Journal of Allergy and Clinical Immunology 147 (3), 870-875. e1, 2021
2262021
Loss-of-function nuclear factor κB subunit 1 (NFKB1) variants are the most common monogenic cause of common variable immunodeficiency in Europeans
P Tuijnenburg, HL Allen, SO Burns, D Greene, MH Jansen, E Staples, ...
Journal of allergy and clinical immunology 142 (4), 1285-1296, 2018
2092018
Maturation of DC is associated with changes in motile characteristics and adherence
S Burns, SJ Hardy, J Buddle, KL Yong, GE Jones, AJ Thrasher
Cell motility and the cytoskeleton 57 (2), 118-132, 2004
2052004
Mechanisms of WASp-mediated hematologic and immunologic disease
S Burns, GO Cory, W Vainchenker, AJ Thrasher
Blood 104 (12), 3454-3462, 2004
1802004
The leukocyte podosome
Y Calle, S Burns, AJ Thrasher, GE Jones
European journal of cell biology 85 (3-4), 151-157, 2006
1682006
British Lung Foundation/United Kingdom Primary Immunodeficiency Network consensus statement on the definition, diagnosis, and management of granulomatous-lymphocytic …
JR Hurst, N Verma, D Lowe, HE Baxendale, S Jolles, P Kelleher, ...
The Journal of Allergy and Clinical Immunology: In Practice 5 (4), 938-945, 2017
1672017
Whole-genome sequencing of a sporadic primary immunodeficiency cohort
JED Thaventhiran, H Lango Allen, OS Burren, W Rae, D Greene, ...
Nature 583 (7814), 90-95, 2020
1662020
WIP regulates the stability and localization of WASP to podosomes in migrating dendritic cells
HC Chou, IM Antón, MR Holt, C Curcio, S Lanzardo, A Worth, S Burns, ...
Current Biology 16 (23), 2337-2344, 2006
1502006
Wiskott–Aldrich syndrome: immunodeficiency resulting from defective cell migration and impaired immunostimulatory activation
G Bouma, SO Burns, AJ Thrasher
Immunobiology 214 (9-10), 778-790, 2009
1382009
Immune deficiency and autoimmunity in patients with CTLA-4 (CD152) mutations
N Verma, SO Burns, LSK Walker, DM Sansom
Clinical & Experimental Immunology 190 (1), 1-7, 2017
1342017
Phenotypic Characterization of EIF2AK4 Mutation Carriers in a Large Cohort of Patients Diagnosed Clinically With Pulmonary Arterial Hypertension
C Hadinnapola, M Bleda, M Haimel, N Screaton, A Swift, P Dorfmüller, ...
Circulation 136 (21), 2022-2033, 2017
1262017
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