ORCID as entered in ROS
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Select Publications
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.0128626
,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
,2014, 'The RNA-binding protein hnRNPLL induces a T cell alternative splicing program delineated by differential intron retention in polyadenylated RNA', Genome Biology, 15, http://dx.doi.org/10.1186/gb-2014-15-1-r26
,2013, 'Rasgrp1 mutation increases naïve T-cell CD44 expression and drives mTOR-dependent accumulation of Helios+ T cells and autoantibodies', eLife, 2013, http://dx.doi.org/10.7554/eLife.01020
,2013, 'A Missense Mutation in the Transcription Factor ETV5 Leads to Sterility, Increased Embryonic and Perinatal Death, Postnatal Growth Restriction, Renal Asymmetry and Polydactyly in the Mouse', PLoS ONE, 8, http://dx.doi.org/10.1371/journal.pone.0077311
,2013, 'RBM5 Is a Male Germ Cell Splicing Factor and Is Required for Spermatid Differentiation and Male Fertility', PLoS Genetics, 9, pp. e1003628, http://dx.doi.org/10.1371/journal.pgen.1003628
,2013, 'Heterozygous mis-sense mutations in Prkcb as a critical determinant of anti-polysaccharide antibody formation', Genes and Immunity, 14, pp. 223 - 233, http://dx.doi.org/10.1038/gene.2013.11
,2013, 'Roquin-2 shares functions with its paralog roquin-1 in the repression of mrnas controlling t follicular helper cells and systemic inflammation', Immunity, 38, pp. 669 - 680, http://dx.doi.org/10.1016/j.immuni.2013.01.011
,2013, 'Understanding the immunological impact of the human mutation explosion', Trends in Immunology, 34, pp. 99 - 106, http://dx.doi.org/10.1016/j.it.2012.12.001
,2013, 'Helios marks strongly autoreactive CD4+ T cells in two major waves of thymic deletion distinguished by induction of PD-1 or NF-κB', Journal of Experimental Medicine, 210, pp. 269 - 285, http://dx.doi.org/10.1084/jem.20121458
,2013, 'B cell survival, surface BCR and BAFFR expression, CD74 metabolism, and CD8- dendritic cells require the intramembrane endopeptidase SPPl2A', Journal of Experimental Medicine, 210, pp. 31 - 40, http://dx.doi.org/10.1084/jem.20121076
,2013, 'DOCK8 is critical for the survival and function of NKT cells', Blood, 122, pp. 2052 - 2061, http://dx.doi.org/10.1182/blood-2013-02-482331
,2013, 'Unlocking the Bottleneck in Forward Genetics Using Whole-Genome Sequencing and Identity by Descent to Isolate Causative Mutations', PLoS Genetics, 9, http://dx.doi.org/10.1371/journal.pgen.1003219
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