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 | 684 | 2012 |
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 | 598 | 2017 |
WASP: a key immunological multitasker AJ Thrasher, SO Burns Nature Reviews Immunology 10 (3), 182-192, 2010 | 444 | 2010 |
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 | 408 | 2017 |
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 | 400 | 2001 |
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 | 346 | 2018 |
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 | 292 | 2016 |
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 | 259 | 2006 |
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 | 240 | 2010 |
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 | 226 | 2021 |
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 | 209 | 2018 |
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 | 205 | 2004 |
Mechanisms of WASp-mediated hematologic and immunologic disease S Burns, GO Cory, W Vainchenker, AJ Thrasher Blood 104 (12), 3454-3462, 2004 | 180 | 2004 |
The leukocyte podosome Y Calle, S Burns, AJ Thrasher, GE Jones European journal of cell biology 85 (3-4), 151-157, 2006 | 168 | 2006 |
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 | 167 | 2017 |
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 | 166 | 2020 |
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 | 150 | 2006 |
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 | 138 | 2009 |
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 | 134 | 2017 |
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 | 126 | 2017 |