Select Publications
Journal articles
2016, 'Clonal redemption of autoantibodies by somatic hypermutation away from self-reactivity during human immunization', Journal of Experimental Medicine, 213, pp. 1255 - 1265, http://dx.doi.org/10.1084/jem.20151978
,2016, 'Temporal HbA1c patterns amongst patients with type 2 diabetes referred for specialist care: Data from the S4S-DINGO-Diabetes Informatics Group', Diabetes Research and Clinical Practice, 116, pp. 159 - 164, http://dx.doi.org/10.1016/j.diabres.2016.04.006
,2016, 'Genetic predisposition for beta cell fragility underlies type 1 and type 2 diabetes', Nature Genetics, 48, pp. 519 - 527, http://dx.doi.org/10.1038/ng.3531
,2016, 'Heterogeneity of Human Neutrophil CD177 Expression Results from CD177P1 Pseudogene Conversion', PLoS Genetics, 12, pp. e1006067, http://dx.doi.org/10.1371/journal.pgen.1006067
,2016, 'Erratum: Phosphorylation and linear ubiquitin direct A20 inhibition of inflammation (Nature (2015) 528 (370-375) (DOI:10.1038/nature16165))', Nature, 532, pp. 402, http://dx.doi.org/10.1038/nature16541
,2016, 'Brown Adipose Tissue Exhibits a Glucose-Responsive Thermogenic Biorhythm in Humans', Cell Metabolism, 23, pp. 602 - 609, http://dx.doi.org/10.1016/j.cmet.2016.02.007
,2016, 'A timeline demarcating two waves of clonal deletion and Foxp3 upregulation during thymocyte development', Immunology and Cell Biology, 94, pp. 357 - 366, http://dx.doi.org/10.1038/icb.2015.95
,2016, 'Skeletal muscle and plasma lipidomic signatures of insulin resistance and overweight/obesity in humans', Obesity, 24, pp. 908 - 916, http://dx.doi.org/10.1002/oby.21448
,2016, 'DeepSNVMiner: A sequence analysis tool to detect emergent, rare mutations in subsets of cell populations', PeerJ, 2016, http://dx.doi.org/10.7717/peerj.2074
,2016, 'Inhibiting TLR9 and other UNC93B1-dependent TLRs paradoxically increases accumulation of MYD88L265P plasmablasts in vivo', Blood, 128, pp. 1604 - 1608, http://dx.doi.org/10.1182/blood-2016-03-708065
,2016, 'Synchronous Nesidioblastosis, Endocrine Microadenoma, and Intraductal Papillary Mucinous Neoplasia in a Man Presenting with Hyperinsulinemic Hypoglycemia', Pancreas, 45, pp. 154 - 159, http://dx.doi.org/10.1097/MPA.0000000000000430
,2016, 'Identification of a pathogenic variant in TREX1 in early-onset cerebral SLE by whole-exome sequencing', Pathology, 48, pp. S47 - S47, http://dx.doi.org/10.1016/j.pathol.2015.12.120
,2015, 'Phosphorylation and linear ubiquitin direct A20 inhibition of inflammation', Nature, 528, pp. 370 - 375, http://dx.doi.org/10.1038/nature16165
,2015, 'Non-pharmacological and pharmacological strategies of brown adipose tissue recruitment in humans', Molecular and Cellular Endocrinology, 418, pp. 184 - 190, http://dx.doi.org/10.1016/j.mce.2015.05.025
,2015, 'Cross-species gene expression analysis identifies a novel set of genes implicated in human insulin sensitivity', npj Systems Biology and Applications, 1, pp. 15010, http://dx.doi.org/10.1038/npjsba.2015.10
,2015, 'Phenotypic characterization of insulin-resistant and insulin-sensitive obesity', Journal of Clinical Endocrinology and Metabolism, 100, pp. 4082 - 4091, http://dx.doi.org/10.1210/jc.2015-2712
,2015, 'Reliably detecting clinically important variants requires both combined variant calls and optimized filtering strategies', PLoS ONE, 10, http://dx.doi.org/10.1371/journal.pone.0143199
,2015, 'Caspase-11 cleaves gasdermin D for non-canonical inflammasome signalling', Nature, 526, pp. 666 - 671, http://dx.doi.org/10.1038/nature15541
,2015, 'Attenuation of AMPK signaling by ROQUIN promotes T follicular helper cell formation', eLife, 4, pp. 1 - 22, http://dx.doi.org/10.7554/eLife.08698
,2015, 'Biomechanical evaluation of a new treatment method for distal tibia fractures', COMPUTER METHODS IN BIOMECHANICS AND BIOMEDICAL ENGINEERING, 18, pp. 1952 - 1953, http://dx.doi.org/10.1080/10255842.2015.1069582
,2015, 'Omenn syndrome associated with a functional reversion due to a somatic second-site mutation in CARD11 deficiency', Blood, 126, pp. 1658 - 1669, http://dx.doi.org/10.1182/blood-2015-03-631374
,2015, 'Comparison of predicted and actual consequences of missense mutations', Proceedings of the National Academy of Sciences of the United States of America, 112, pp. E5189 - E5198, http://dx.doi.org/10.1073/pnas.1511585112
,2015, 'SnapShot: Interactions between B Cells and T Cells', Cell, 162, pp. 926 - 926.e1, http://dx.doi.org/10.1016/j.cell.2015.07.055
,2015, 'Dietary acid load, metabolic acidosis and insulin resistance - Lessons from cross-sectional and overfeeding studies in humans', Clinical Nutrition, 35, pp. 1084 - 1090, http://dx.doi.org/10.1016/j.clnu.2015.08.002
,2015, 'Reducing the search space for causal genetic variants with VASP', Bioinformatics, 31, pp. 2377 - 2379, http://dx.doi.org/10.1093/bioinformatics/btv135
,2015, 'Delayed control of herpes simplex virus infection and impaired CD4+ T-cell migration to the skin in mouse models of DOCK8 deficiency', Immunology and Cell Biology, 93, pp. 517 - 521, http://dx.doi.org/10.1038/icb.2015.32
,2015, 'Identification of phenotypically and functionally heterogeneous mouse mucosal-associated invariant T cells using MR1 tetramers', Journal of Experimental Medicine, 212, pp. 1095 - 1108, http://dx.doi.org/10.1084/jem.20142110
,2015, 'A systematic review of interventions addressing adherence to anti-diabetic medications in patients with type 2 diabetes - Components of interventions', PLoS ONE, 10, pp. e0128581, http://dx.doi.org/10.1371/journal.pone.0128581
,2015, 'A Systematic Review of Interventions Addressing Adherence to Anti-Diabetic Medications in Patients with Type 2 Diabetes—Components of Interventions', PLOS ONE, 10, pp. e0128581 - e0128581, http://dx.doi.org/10.1371/journal.pone.0128581
,2015, 'Novel and rare functional genomic variants in multiple autoimmune syndrome and Sjögren's syndrome', Journal of Translational Medicine, 13, http://dx.doi.org/10.1186/s12967-015-0525-x
,2015, 'The sum of all browning in FGF21 therapeutics', Cell Metabolism, 21, pp. 795 - 796, http://dx.doi.org/10.1016/j.cmet.2015.05.018
,2015, 'L-glutamine and whole protein restore first-phase insulin response and increase glucagon-like peptide-1 in type 2 diabetes patients', Nutrients, 7, pp. 2101 - 2108, http://dx.doi.org/10.3390/nu7042101
,2015, 'LRGUK-1 Is Required for Basal Body and Manchette Function during Spermatogenesis and Male Fertility', PLoS Genetics, 11, http://dx.doi.org/10.1371/journal.pgen.1005090
,2015, 'Quantitative reduction of the TCR adapter protein SLP-76 unbalances immunity and immune regulation', Journal of Immunology, 194, pp. 2587 - 2595, http://dx.doi.org/10.4049/jimmunol.1400326
,2015, 'T cell expansion is the limiting factor of virus control in mice with attenuated TCR signaling: Implications for human immunodeficiency', Journal of Immunology, 194, pp. 2725 - 2734, http://dx.doi.org/10.4049/jimmunol.1400328
,2015, 'Candidate gene discovery in autoimmunity by using extreme phenotypes, next generation sequencing and whole exome capture', Autoimmunity Reviews, 14, pp. 204 - 209, http://dx.doi.org/10.1016/j.autrev.2014.10.021
,2015, 'A deleterious RNF43 germline mutation in a severely affected serrated polyposis kindred', Human Genome Variation, 2, http://dx.doi.org/10.1038/hgv.2015.13
,2015, 'HENMT1 and piRNA Stability Are Required for Adult Male Germ Cell Transposon Repression and to Define the Spermatogenic Program in the Mouse', PLoS Genetics, 11, http://dx.doi.org/10.1371/journal.pgen.1005620
,2015, 'The pharmacokinetics of metformin and concentrations of haemoglobin A
2015, 'Correction: HENMT1 and piRNA Stability Are Required for Adult Male Germ Cell Transposon Repression and to Define the Spermatogenic Program in the Mouse.', PLoS Genet, 11, pp. e1005782, http://dx.doi.org/10.1371/journal.pgen.1005782
,2014, 'Brief report: Identification of a pathogenic variant in trex1 in early-onset cerebral systemic lupus erythematosus by whole-exome sequencing', Arthritis and Rheumatology, 66, pp. 3382 - 3386, http://dx.doi.org/10.1002/art.38824
,2014, 'Autosomal-dominant B-cell deficiency with alopecia due to a mutation in NFKB2 that results in nonprocessable p100', Blood, 124, pp. 2964 - 2972, http://dx.doi.org/10.1182/blood-2014-06-578542
,2014, 'Zinc finger protein Zfp335 is required for the formation of the naïve T cell compartment', eLife, 3, pp. 1 - 28, http://dx.doi.org/10.7554/eLife.03549
,2014, 'Functional genomics identifies tnfaip3/A20 as a diabetes protective gene', DIABETOLOGIA, 57, pp. S103 - S103, https://www.webofscience.com/api/gateway?GWVersion=2&SrcApp=PARTNER_APP&SrcAuth=LinksAMR&KeyUT=WOS:000344386100229&DestLinkType=FullRecord&DestApp=ALL_WOS&UsrCustomerID=891bb5ab6ba270e68a29b250adbe88d1
,2014, 'Redemption of autoantibodies on anergic B cells by variable-region glycosylation and mutation away from self-reactivity', Proceedings of the National Academy of Sciences of the United States of America, 111, http://dx.doi.org/10.1073/pnas.1406974111
,2014, 'Zinc-finger protein ZFP318 is essential for expression of IgD, the alternatively spliced Igh product made by mature B lymphocytes', Proceedings of the National Academy of Sciences of the United States of America, 111, pp. 4513 - 4518, http://dx.doi.org/10.1073/pnas.1402739111
,2014, 'Consequences of the recurrent MYD88L265P somatic mutation for B cell tolerance', Journal of Experimental Medicine, 211, pp. 413 - 426, http://dx.doi.org/10.1084/jem.20131424
,2014, 'Ndfip1 mediates peripheral tolerance to self and exogenous antigen by inducing cell cycle exit in responding CD4+ T cells', Proceedings of the National Academy of Sciences of the United States of America, 111, pp. 2067 - 2074, http://dx.doi.org/10.1073/pnas.1322739111
,2014, 'A ZAP-70 kinase domain variant prevents thymocyte-positive selection despite signalling CD69 induction', Immunology, 141, pp. 587 - 595, http://dx.doi.org/10.1111/imm.12220
,2014, 'Next-generation sequencing to dissect hereditary nephrotic syndrome in mice identifies a hypomorphic mutation in Lamb2 and models Pierson's syndrome', Journal of Pathology, 233, pp. 18 - 26, http://dx.doi.org/10.1002/path.4308
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