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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 | 236 | 2018 |
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Whole genome sequencing for the diagnosis of neurological repeat expansion disorders in the UK: a retrospective diagnostic accuracy and prospective clinical validation study K Ibañez, J Polke, RT Hagelstrom, E Dolzhenko, D Pasko, ERA Thomas, ... The Lancet Neurology 21 (3), 234-245, 2022 | 149 | 2022 |
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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 | 131 | 2020 |
Characterization of GDF2 Mutations and Levels of BMP9 and BMP10 in Pulmonary Arterial Hypertension J Hodgson, EM Swietlik, RM Salmon, C Hadinnapola, I Nikolic, J Wharton, ... American journal of respiratory and critical care medicine 201 (5), 575-585, 2020 | 118 | 2020 |
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Whole exome sequencing coupled with unbiased functional analysis reveals new Hirschsprung disease genes H Gui, D Schriemer, WW Cheng, RK Chauhan, G Antiňolo, C Berrios, ... Genome biology 18, 1-13, 2017 | 90 | 2017 |
The ADAMTS13–VWF axis is dysregulated in chronic thromboembolic pulmonary hypertension M Newnham, K South, M Bleda, WR Auger, JA Barberà, H Bogaard, ... European Respiratory Journal 53 (3), 2019 | 87 | 2019 |
267 Spanish exomes reveal population-specific differences in disease-related genetic variation J Dopazo, A Amadoz, M Bleda, L Garcia-Alonso, A Alemán, ... Molecular biology and evolution 33 (5), 1205-1218, 2016 | 87 | 2016 |
Loss-of-Function ABCC8 Mutations in Pulmonary Arterial Hypertension MS Bohnen, L Ma, N Zhu, H Qi, C McClenaghan, C Gonzaga-Jauregui, ... Circulation: Genomic and Precision Medicine 11 (10), e002087, 2018 | 83 | 2018 |
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Pathogenic huntingtin repeat expansions in patients with frontotemporal dementia and amyotrophic lateral sclerosis R Dewan, R Chia, J Ding, RA Hickman, TD Stein, Y Abramzon, S Ahmed, ... Neuron 109 (3), 448-460. e4, 2021 | 81 | 2021 |
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 | 67 | 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 | 65 | 2019 |