Items where authors include "Poulter, J"
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Poulter, J orcid.org/0000-0003-2048-5693, UKGCA/VEXAS Consortium, Morgan, A orcid.org/0000-0003-1109-624X et al. (2 more authors) (2022) A High-Throughput Amplicon Screen for Somatic UBA1 Variants in Cytopenic and Giant Cell Arteritis Cohorts. Journal of Clinical Immunology, 42 (5). pp. 947-951. ISSN 0271-9142
Stockdale, C, Rice, L, Carter, C et al. (7 more authors) (2021) Novel Case of Tripeptidyl Peptidase 2 Deficiency Associated with Mild Clinical Phenotype. Journal of Clinical Immunology, 41 (5). pp. 1123-1127. ISSN 0271-9142
Smith, C orcid.org/0000-0001-8320-5105, Whitehouse, L, Poulter, J orcid.org/0000-0003-2048-5693 et al. (8 more authors) (2020) A missense variant in specificity protein 6 (SP6) is associated with amelogenesis imperfecta. Human Molecular Genetics. ISSN 0964-6906
Fiorentino, A, Yu, J, Arno, G et al. (28 more authors) (2018) Novel homozygous splicing mutations in ARL2BP cause autosomal recessive retinitis pigmentosa. Molecular Vision, 24. pp. 603-612. ISSN 1090-0535
Mughal, S, Moghul, I, Yu, J et al. (28 more authors) (2017) Pheno4J: A gene to phenotype graph database. Bioinformatics, 33 (20). pp. 3317-3319. ISSN 1367-4803
Xu, M, Xie, YA, Abouzeid, H et al. (64 more authors) (2017) Mutations in the Spliceosome Component CWC27 Cause Retinal Degeneration with or without Additional Developmental Anomalies. American Journal of Human Genetics, 100 (4). pp. 592-604. ISSN 0002-9297
Jaureguiberry, G, De la Dure-Molla, M, Parry, D et al. (68 more authors) (2013) Nephrocalcinosis (Enamel Renal Syndrome) Caused by Autosomal Recessive FAM20A Mutations. Nephron Physiology, 122 (1-2). pp. 1-6. ISSN 1660-8151
Conference or Workshop Item
Ferrada, M, Savic, S, Alessi, H et al. (18 more authors) (2021) Genotype and Transfusion Dependence Predicts Mortality in VEXAS Syndrome, a Newly Described Disease with Overlap Inflammatory and Hematologic Features. In: ACR Convergence 2021, 05-09 Nov 2021, Virtual.
Sheridan, EG orcid.org/0000-0002-7237-6280, Bonnefoy, S, Watson, CM et al. (17 more authors) (2019) Biallelic Mutations in LRRC56, encoding a protein associated with intraflagellar transport, causes defects in mucociliary clearance and laterality. In: 51st European Society of Human Genetics Conference, 16-19 Jun 2018, Milan, Italy.