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Acres, Meghan J, Gothe, Florian, Grainger, Angela, Skelton, Andrew J, Swan, David, Willet, Joseph D P, Leech, Suzy, Galcheva, Sonya, Iotova, Violeta, Hambleton, Sophie and Engelhardt, Karin R (2018) Signal transducer and activator of transcription 5B deficiency due to a novel missense mutation in the coiled-coil domain. Journal of allergy and clinical immunology, 143 (1). 413-416.e4. ISSN 0091-6749
Duncan, Christopher J A, Dinnigan, Emma, Theobald, Rachel, Grainger, Angela, Skelton, Andrew J, Hussain, Rafiqul, Willet, Joseph D P, Swan, David, Coxhead, Jonathan, Thomas, Matthew F, Thomas, Julian, Zamvar, Veena, Slatter, Mary A, Cant, Andrew J, Engelhardt, Karin R and Hambleton, Sophie (2018) Early-onset autoimmune disease due to a heterozygous loss-of-function mutation in (A20). Annals of the rheumatic diseases, 77 (5). pp. 783-786. ISSN 1468-2060
Engelhardt, Karin R, Xu, Yaobo, Grainger, Angela, Germani Batacchi, Mila G C, Swan, David, Willet, Joseph D P, Abd Hamid, Intan J, Agyeman, Philipp, Barge, Dawn, Bibi, Shahnaz, Jenkins, Lucy, Flood, Terence J, Abinun, Mario, Slatter, Mary A, Gennery, Andrew R, Cant, Andrew J, Santibanez Koref, Mauro, Gilmour, Kimberly and Hambleton, Sophie (2017) Identification of Heterozygous Single- and Multi-exon Deletions in IL7R by Whole Exome Sequencing. Journal of clinical immunology, 37 (1). pp. 42-50. ISSN 1573-2592
Dang, Tarana Singh, Willet, Joseph D P, Griffin, Helen R, Morgan, Neil V, O'Boyle, Graeme, Arkwright, Peter D, Hughes, Stephen M, Abinun, Mario, Tee, Louise J, Barge, Dawn, Engelhardt, Karin R, Jackson, Michael, Cant, Andrew J, Maher, Eamonn R, Koref, Mauro Santibanez, Reynard, Louise N, Ali, Simi and Hambleton, Sophie (2016) Defective Leukocyte Adhesion and Chemotaxis Contributes to Combined Immunodeficiency in Humans with Autosomal Recessive MST1 Deficiency. Journal of clinical immunology, 36 (2). pp. 117-22. ISSN 1573-2592