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| 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 | 602 | 2017 |
| 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 | 467 | 2017 |
| PI3Kδ and primary immunodeficiencies CL Lucas, A Chandra, S Nejentsev, AM Condliffe, K Okkenhaug Nature Reviews Immunology 16 (11), 702-714, 2016 | 338 | 2016 |
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| 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 | 229 | 2018 |
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| Neutralising antibodies in Spike mediated SARS-CoV-2 adaptation SA Kemp, DA Collier, R Datir, IATM Ferreira, S Gayed, A Jahun, ... MedRxiv, 2020 | 184 | 2020 |
| 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 | 140 | 2017 |
| Characterization of the clinical and immunologic phenotype and management of 157 individuals with 56 distinct heterozygous NFKB1 mutations T Lorenzini, M Fliegauf, N Klammer, N Frede, M Proietti, A Bulashevska, ... Journal of Allergy and Clinical Immunology 146 (4), 901-911, 2020 | 120 | 2020 |
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| Cells with Treg-specific FOXP3 demethylation but low CD25 are prevalent in autoimmunity RC Ferreira, HZ Simons, WS Thompson, DB Rainbow, X Yang, AJ Cutler, ... Journal of Autoimmunity 84, 75-86, 2017 | 95 | 2017 |
| Respiratory disease in common variable immunodeficiency and other primary immunodeficiency disorders FA Hampson, A Chandra, NJ Screaton, A Condliffe, DS Kumararatne, ... Clinical radiology 67 (6), 587-595, 2012 | 93 | 2012 |
| PI3Kδ hyper-activation promotes development of B cells that exacerbate Streptococcus pneumoniae infection in an antibody-independent manner AK Stark, A Chandra, K Chakraborty, R Alam, V Carbonaro, J Clark, ... Nature communications 9 (1), 3174, 2018 | 80 | 2018 |
| Cholesterol metabolism drives regulatory B cell IL-10 through provision of geranylgeranyl pyrophosphate JA Bibby, HA Purvis, T Hayday, A Chandra, K Okkenhaug, S Rosenzweig, ... Nature communications 11 (1), 3412, 2020 | 71 | 2020 |
| Comprehensive cancer-predisposition gene testing in an adult multiple primary tumor series shows a broad range of deleterious variants and atypical tumor phenotypes J Whitworth, PS Smith, JE Martin, H West, A Luchetti, F Rodger, G Clark, ... The American Journal of Human Genetics 103 (1), 3-18, 2018 | 66 | 2018 |
| Bi-allelic loss-of-function CACNA1B mutations in progressive epilepsy-dyskinesia KM Gorman, E Meyer, D Grozeva, E Spinelli, A McTague, A Sanchis-Juan, ... The American Journal of Human Genetics 104 (5), 948-956, 2019 | 64 | 2019 |
| Cowden's syndrome with immunodeficiency MJ Browning, A Chandra, V Carbonaro, K Okkenhaug, J Barwell Journal of Medical Genetics 52 (12), 856-859, 2015 | 58 | 2015 |