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Number of items: 97.

2018

Berry, V; Pontikos, N; Albarca-Aguilera, M; Plagnol, V; Massouras, A; Prescott, D; Moore, AT; ... Michaelides, M; + view all (2018) A recurrent splice-site mutation in EPHA2 causing congenital posterior nuclear cataract. Ophthalmic Genetics , 39 (2) pp. 236-241. 10.1080/13816810.2017.1381977. Green open access
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Berry, V; Pontikos, N; Moore, A; Ionides, ACW; Plagnol, V; Cheetham, ME; Michaelides, M; (2018) A novel missense mutation in HSF4 causes autosomal-dominant congenital lamellar cataract in a British family. Eye , 32 pp. 806-812. 10.1038/eye.2017.268. Green open access
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Bochukova, EG; Lawler, K; Croizier, S; Keogh, JM; Patel, N; Strohbehn, G; Lo, KK; ... Farooqi, IS; + view all (2018) A Transcriptomic Signature of the Hypothalamic Response to Fasting and BDNF Deficiency in Prader-Willi Syndrome. Cell Reports , 22 (13) pp. 3401-3408. 10.1016/j.celrep.2018.03.018. Green open access
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Cuchet-Lourenço, D; Eletto, D; Wu, C; Plagnol, V; Papapietro, O; Curtis, J; Ceron-Gutierrez, L; ... Nejentsev, S; + view all (2018) Biallelic RIPK1 mutations in humans cause severe immunodeficiency, arthritis, and intestinal inflammation. Science , 361 (6404) pp. 810-813. 10.1126/science.aar2641. Green open access
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Dudakova, L; Cheong, S-S; Merjava, SR; Skalicka, P; Michalickova, M; Palos, M; Mahelkova, G; ... Liskova, P; + view all (2018) Familial Limbal Stem Cell Deficiency: Clinical, Cytological and Genetic Characterization. Stem Cell Reviews and Reports , 14 (1) pp. 148-151. 10.1007/s12015-017-9780-y. Green open access
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Fiorentino, A; Fujinami, K; Arno, G; Robson, AG; Pontikos, N; Arasanz Armengol, M; Plagnol, V; ... 100,000 Genomes Project, the Japan Eye Genetic Consortium & the; + view all (2018) Missense variants in the X-linked gene PRPS1 cause retinal degeneration in females. Human Mutation , 39 (1) pp. 80-91. 10.1002/humu.23349. Green open access
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Fiorentino, A; Yu, J; Arno, G; Pontikos, N; Halford, S; Broadgate, S; Michaelides, M; ... U.K. Inherited Retinal Dystrophy Consortium; + view all (2018) Novel homozygous splicing mutations in ARL2BP cause autosomal recessive retinitis pigmentosa. Molecular Vision , 24 pp. 603-612. Green open access
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Fratta, P; Sivakumar, P; Humphrey, J; Lo, K; Ricketts, T; Oliveira, H; Brito-Armas, JM; ... Acevedo-Arozena, A; + view all (2018) Mice with endogenous TDP-43 mutations exhibit gain of splicing function and characteristics of amyotrophic lateral sclerosis. EMBO Journal , 2018 , Article e98684. 10.15252/embj.201798684. Green open access
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Gale, D; Lawson, ARJ; Howarth, K; Madi, M; Durham, B; Smalley, S; Calaway, J; ... Rosenfeld, N; + view all (2018) Development of a highly sensitive liquid biopsy platform to detect clinically-relevant cancer mutations at low allele fractions in cell-free DNA. PLoS ONE , 13 (3) , Article e0194630. 10.1371/journal.pone.0194630. Green open access
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Guibert, N; Hu, Y; Feeney, N; Kuang, Y; Plagnol, V; Jones, G; Howarth, K; ... Oxnard, GR; + view all (2018) Amplicon-based next-generation sequencing of plasma cell-free DNA for detection of driver and resistance mutations in advanced non-small cell lung cancer. Annals of Oncology , 29 (4) pp. 1049-1055. 10.1093/annonc/mdy005. Green open access
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Neves, JF; Doffinger, R; Barcena-Morales, G; Martins, C; Papapietro, O; Plagnol, V; Curtis, J; ... Nejentsev, S; + view all (2018) Novel PLCG2 Mutation in a Patient With APLAID and Cutis Laxa. Frontiers in Immunology , 9 , Article 2863. 10.3389/fimmu.2018.02863. Green open access
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Plagnol, V; Woodhouse, S; Howarth, K; Lensing, S; Smith, M; Epstein, M; Medi, M; ... Forshew, T; + view all (2018) Analytical validation of a next generation sequencing liquid biopsy assay for high sensitivity broad molecular profiling. PLoS One , 13 (3) , Article e0193802. 10.1371/journal.pone.0193802. Green open access
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Risberg, B; Tsui, DW; Biggs, H; Ruiz-Valdepenas Martin de Almagro, A; Dawson, S-J; Hodgkin, C; Jones, L; ... Gale, D; + view all (2018) Effects of Collection and Processing Procedures on Plasma Circulating Cell-Free DNA from Cancer Patients. The Journal of Molecular Diagnostics , 20 (6) pp. 883-892. 10.1016/j.jmoldx.2018.07.005. Green open access
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Rivas, MA; Avila, BE; Koskela, J; Huang, H; Stevens, C; Pirinen, M; Haritunians, T; ... Daly, MJ; + view all (2018) Insights into the genetic epidemiology of Crohn's and rare diseases in the Ashkenazi Jewish population. PLoS Genetics , 14 (5) , Article e1007329. 10.1371/journal.pgen.1007329. Green open access
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Santos e Sousa, P; Ciré, S; Conlan, T; Jardine, L; Tkacz, C; Ferrer, IR; Lomas, C; ... Chakraverty, R; + view all (2018) Peripheral tissues re-program CD8+ T cells for pathogenicity during graftversus- host disease. JCI Insight , 3 (5) , Article e97011. 10.1172/jci.insight.97011. Green open access
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Sivakumar, P; De Giorgio, F; Ule, AM; Neeves, J; Nair, RR; Bentham, M; Birsa, N; ... Fratta, P; + view all (2018) TDP-43 mutations increase HNRNP A1-7B through gain of splicing function. [Letter]. Brain , 141 (12) e83. 10.1093/brain/awy260. Green open access
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2017

Arno, G; Carss, KJ; Hull, S; Zihni, C; Robson, AG; Fiorentino, A; Hardcastle, AJ; ... Yu, P; + view all (2017) Biallelic Mutation of ARHGEF18, Involved in the Determination of Epithelial Apicobasal Polarity, Causes Adult-Onset Retinal Degeneration. The American Journal of Human Genetics , 100 (2) pp. 334-342. 10.1016/j.ajhg.2016.12.014. Green open access
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Carss, KJ; Arno, G; Erwood, M; Stephens, J; Sanchis-Juan, A; Hull, S; Megy, K; ... Raymond, FL; + view all (2017) Comprehensive Rare Variant Analysis via Whole-Genome Sequencing to Determine the Molecular Pathology of Inherited Retinal Disease. American Journal of Human Genetics , 100 (1) pp. 75-90. 10.1016/j.ajhg.2016.12.003. Green open access
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Cheong, SS; Hull, S; Jones, B; Chana, R; Thornton, N; Plagnol, V; Moore, AT; (2017) Pleiotropic effect of a novel mutation in GCNT2 causing congenital cataract and a rare adult i blood group phenotype. Human Genome Variation , 4 , Article 17004. 10.1038/hgv.2017.4. Green open access
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Devoy, A; Kalmar, B; Stewart, M; Park, H; Burke, B; Noy, SJ; Redhead, Y; ... Fisher, EMC; + view all (2017) Humanized mutant FUS drives progressive motor neuron degeneration without aggregation in 'FUSDelta14' knockin mice. Brain , 140 (11) pp. 2797-2805. 10.1093/brain/awx248. Green open access
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Gutteridge, A; Rathbone, VM; Gibbons, R; Bi, M; Archard, N; J Davies, KE; Brown, J; ... Forshew, T; + view all (2017) Digital PCR analysis of circulating tumor DNA: a biomarker for chondrosarcoma diagnosis, prognostication, and residual disease detection. Cancer Medicine , 6 (10) pp. 2194-2202. 10.1002/cam4.1146. Green open access
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Hensman Moss, DJ; Flower, MD; Lo, KK; Miller, JRC; van Ommen, G-JB; 't Hoen, PAC; Stone, TC; ... Tabrizi, SJ; + view all (2017) Huntington's disease blood and brain show a common gene expression pattern and share an immune signature with Alzheimer's disease. Sci Rep , 7 , Article 44849. 10.1038/srep44849. Green open access
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Hull, S; Attanasio, M; Arno, G; Carss, K; Robson, AG; Thompson, DA; Plagnol, V; ... Webster, AR; + view all (2017) Clinical Characterization of CNGB1-Related Autosomal Recessive Retinitis Pigmentosa. JAMA Ophthalmol , 135 (2) pp. 137-144. 10.1001/jamaophthalmol.2016.5213. Green open access
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Humphrey, J; Emmett, W; Fratta, P; Isaacs, AM; Plagnol, V; (2017) Quantitative analysis of cryptic splicing associated with TDP-43 depletion. BMC Medical Genomics , 10 (1) , Article 38. 10.1186/s12920-017-0274-1. Green open access
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Mizielinska, S; Ridler, CE; Balendra, R; Thoeng, A; Woodling, NS; Grässer, FA; Plagnol, V; ... Isaacs, AM; + view all (2017) Bidirectional nucleolar dysfunction in C9orf72 frontotemporal lobar degeneration. Acta Neuropathologica Communications , 5 , Article 29. 10.1186/s40478-017-0432-x. Green open access
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Morfopoulou, S; Mee, ET; Connaughton, SM; Brown, JR; Gilmour, K; Chong, WK; Duprex, WP; ... Breuer, J; + view all (2017) Deep sequencing reveals persistence of cell-associated mumps vaccine virus in chronic encephalitis. Acta Neuropathologica , 133 (1) pp. 139-147. 10.1007/s00401-016-1629-y. Green open access
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Pontikos, N; Yu, J; Moghul, I; Withington, L; Blanco-Kelly, F; Vulliamy, T; Wong, TL; ... Plagnol, V; + view all (2017) Phenopolis: an open platform for harmonization and analysis of genetic and phenotypic data. Bioinformatics , 33 (15) pp. 2421-2423. 10.1093/bioinformatics/btx147. Green open access
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Remon, J; Caramella, C; Jovelet, C; Lacroix, L; Lawson, A; Smalley, S; Howarth, K; ... Besse, B; + view all (2017) Osimertinib benefit in EGFR-mutant NSCLC patients with T790M-mutation detected by circulating tumour DNA. Annals of Oncology , 28 (4) pp. 784-790. 10.1093/annonc/mdx017. Green open access
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Soderquest, K; Hertweck, A; Giambartolomei, C; Henderson, S; Mohamed, R; Goldberg, R; Perucha, E; ... Lord, GM; + view all (2017) Genetic variants alter T-bet binding and gene expression in mucosal inflammatory disease. PLOS GENETICS , 13 (2) 10.1371/journal.pgen.1006587. Green open access
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Xu, M; Xie, YA; Abouzeid, H; Gordon, CT; Fiorentino, A; Sun, Z; Lehman, A; ... Schorderet, DF; + view all (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. 10.1016/j.ajhg.2017.02.008. Green open access
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2016

Arno, G; Agrawal, SA; Eblimit, A; Bellingham, J; Xu, M; Wang, F; Chakarova, C; ... Chen, R; + view all (2016) Mutations in REEP6 Cause Autosomal-Recessive Retinitis Pigmentosa. Am J Hum Genet , 99 (6) pp. 1305-1315. 10.1016/j.ajhg.2016.10.008. Green open access
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Arno, G; Holder, GE; Chakarova, C; Kohl, S; Pontikos, N; Fiorentino, A; Plagnol, V; ... UK Inherited Retinal Disease Consortium, .; + view all (2016) Recessive Retinopathy Consequent on Mutant G-Protein β Subunit 3 (GNB3). JAMA Ophthalmology , 134 (8) pp. 924-927. 10.1001/jamaophthalmol.2016.1543. Green open access
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Cairns, J; Freire-Pritchett, P; Wingett, SW; Várnai, C; Dimond, A; Plagnol, V; Zerbino, D; ... Spivakov, M; + view all (2016) CHiCAGO: robust detection of DNA looping interactions in Capture Hi-C data. Genome Biol , 17 (1) p. 127. 10.1186/s13059-016-0992-2. Green open access
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Chandra, A; Zhang, F; Gilmour, KC; Webster, D; Plagnol, V; Kumararatne, DS; Burns, SO; ... Thrasher, AJ; + view all (2016) Common variable immunodeficiency and natural killer cell lymphopenia caused by Ets-binding site mutation in the IL-2 receptor γ (IL2RG) gene promoter. Journal of Allergy and Clinical Immunology , 137 (3) 940-942.e4. 10.1016/j.jaci.2015.08.049. Green open access
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Cheong, SS; Hentschel, L; Davidson, AE; Gerrelli, D; Davie, R; Rizzo, R; Pontikos, N; ... Hardcastle, AJ; + view all (2016) Mutations in CPAMD8 Cause a Unique Form of Autosomal-Recessive Anterior Segment Dysgenesis. American Journal of Human Genetics , 99 (6) pp. 1338-1352. 10.1016/j.ajhg.2016.09.022. Green open access
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Chuang, LS; Villaverde, N; Hui, KY; Mortha, A; Rahman, A; Levine, AP; Haritunians, T; ... Cho, JH; + view all (2016) A Frameshift in CSF2RB Predominant Among Ashkenazi Jews Increases Risk for Crohn's Disease and Reduces Monocyte Signaling via GMCSF. Gastroenterology , 151 (4) 710-723.e2. 10.1053/j.gastro.2016.06.045. Green open access
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Davidson, AE; Liskova, P; Evans, CJ; Dudakova, L; Nosková, L; Pontikos, N; Hartmannová, H; ... Hardcastle, AJ; + view all (2016) Autosomal-Dominant Corneal Endothelial Dystrophies CHED1 and PPCD1 Are Allelic Disorders Caused by Non-coding Mutations in the Promoter of OVOL2. American Journal of Human Genetics , 98 (1) pp. 75-89. 10.1016/j.ajhg.2015.11.018. Green open access
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Ekong, R; Emmett, W; Dawson, NL; Futema, M; Plagnol, V; Humphries, SE; Povey, MS; (2016) Variants within TSC2 exons 25 and 31 are very unlikely to cause clinically diagnosable tuberous sclerosis. Human Mutation , 37 (4) pp. 364-370. 10.1002/humu.22951. Green open access
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Eletto, D; Burns, SO; Angulo, I; Plagnol, V; Gilmour, KC; Henriquez, F; Curtis, J; ... Nejentsev, S; + view all (2016) Biallelic JAK1 mutations in immunodeficient patient with mycobacterial infection. Nature Communications , 7 , Article 13992. 10.1038/ncomms13992. Green open access
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Emmett, WA; (2016) Computational identification of regulatory features affecting splicing in the human brain. Doctoral thesis , UCL (University College London). Green open access
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Hodik, M; Anagandula, M; Fuxe, J; Krogvold, L; Dahl-Jørgensen, K; Hyöty, H; Sarmiento, L; ... Larsson, P; + view all (2016) Coxsackie-adenovirus receptor expression is enhanced in pancreas from patients with type 1 diabetes. BMJ Open Diabetes Research and Care , 4 (1) , Article e000219. 10.1136/bmjdrc-2016-000219. Green open access
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Hull, S; Arno, G; Robson, AG; Broadgate, S; Plagnol, V; McKibbin, M; Halford, S; ... Webster, AR; + view all (2016) Characterization of CDH3-Related Congenital Hypotrichosis With Juvenile Macular Dystrophy. JAMA Ophthalmol , 134 (9) pp. 992-1000. 10.1001/jamaophthalmol.2016.2089. Green open access
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Hull, S; Owen, N; Islam, F; Tracey-White, D; Plagnol, V; Holder, GE; Michaelides, M; ... Moore, AT; + view all (2016) Nonsyndromic Retinal Dystrophy due to Bi-Allelic Mutations in the Ciliary Transport Gene IFT140. Investigative Ophthalmology & Visual Science , 57 (3) pp. 1053-1062. 10.1167/iovs.15-17976. Green open access
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Joyce, PI; Fratta, P; Landman, AS; Mcgoldrick, P; Wackerhage, H; Groves, M; Busam, BS; ... Acevedo-Arozena, A; + view all (2016) Deficiency of the zinc finger protein ZFP106 causes motor and sensory neurodegeneration. Human Molecular Genetics , 25 (2) pp. 291-307. 10.1093/hmg/ddv471. Green open access
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Levine, AP; Pontikos, N; Schiff, ER; Jostins, L; Speed, D; NIDDK Inflammatory Bowel Disease Genetics Consortium, .; Lovat, LB; ... Segal, AW; + view all (2016) Genetic Complexity of Crohn’s Disease in Two Large Ashkenazi Jewish Families. Gastroenterology , 151 (4) pp. 698-709. 10.1053/j.gastro.2016.06.040. Green open access
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McLachlan, S; Giambartolomei, C; White, J; Charoen, P; Wong, A; Finan, C; Engmann, J; ... UCLEB Consortium; + view all (2016) Replication and Characterization of Association between ABO SNPs and Red Blood Cell Traits by Meta-Analysis in Europeans. PLoS One , 11 (6) , Article e0156914. 10.1371/journal.pone.0156914. Green open access
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Miller, JR; Lo, KK; Andre, R; Hensman Moss, DJ; Träger, U; Stone, TC; Jones, L; ... Tabrizi, SJ; + view all (2016) RNA-Seq of Huntington's disease patient myeloid cells reveals innate transcriptional dysregulation associated with proinflammatory pathway activation. Human Molecular Genetics 10.1093/hmg/ddw142. Green open access
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Mok, KY; Sheerin, U; Simón-Sánchez, J; Salaka, A; Chester, L; Escott-Price, V; Mantripragada, K; ... Wood, NW; + view all (2016) Deletions at 22q11.2 in idiopathic Parkinson's disease: a combined analysis of genome-wide association data. Lancet Neurology , 15 (6) pp. 585-596. 10.1016/S1474-4422(16)00071-5. Green open access
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Morfopoulou, S; Brown, JR; Davies, EG; Anderson, G; Virasami, A; Qasim, W; Chong, WK; ... Breuer, J; + view all (2016) Human Coronavirus OC43 Associated with Fatal Encephalitis. [Letter]. New England Journal of Medicine , 375 (5) 497-+. 10.1056/NEJMc1509458. Green open access
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Murphy, C; (2016) Dissecting the genetic architecture of cardiac disorders through the use of next generation sequencing. Doctoral thesis , UCL (University College London). Green open access
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Oldoni, F; Palmen, J; Giambartolomei, C; Howard, P; Drenos, F; Plagnol, V; Humphries, SE; ... Smith, AJ; + view all (2016) Post-GWAS methodologies for localisation of functional non-coding variants: ANGPTL3. Atherosclerosis , 246 pp. 193-201. 10.1016/j.atherosclerosis.2015.12.009. Green open access
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Pigors, M; Sarig, O; Heinz, L; Plagnol, V; Fischer, J; Mohamad, J; Malchin, N; ... Blaydon, DC; + view all (2016) Loss-of-Function Mutations in SERPINB8 Linked to Exfoliative Ichthyosis with Impaired Mechanical Stability of Intercellular Adhesions. American Journal of Human Genetics , 99 (2) pp. 430-436. 10.1016/j.ajhg.2016.06.004. Green open access
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Santos e Sousa, P; Ward, S; Lomas, C; Conlan, T; Shorrock, H; Means, TK; Plagnol, V; ... Bennett, CL; + view all (2016) A systems immunology approach to GVHD defines skin-autonomous control of donor T cells. Presented at: 2016 Keystone Symposia Conference: Immunity in Skin Development, Homeostasis and Disease, 28 February - 2 March 2016, Tahoe City, California, USA, Granlibakken, CA. Green open access
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Tummala, H; Walne, AJ; Williams, M; Bockett, N; Collopy, L; Cardoso, S; Ellison, A; ... Vulliamy, T; + view all (2016) DNAJC21 Mutations Link a Cancer-Prone Bone Marrow Failure Syndrome to Corruption in 60S Ribosome Subunit Maturation. American Journal of Human Genetics , 99 (1) pp. 115-124. 10.1016/j.ajhg.2016.05.002. Green open access
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Walne, AJ; Collopy, L; Cardoso, S; Ellison, A; Plagnol, V; Albayrak, C; Albayrak, D; ... Dokal, I; + view all (2016) Marked overlap of four genetic syndromes with dyskeratosis congenita confounds clinical diagnosis. Haematologica , 101 (10) pp. 1180-1189. 10.3324/haematol.2016.147769. Green open access
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Wedatilake, Y; Niazi, R; Fassone, E; Powell, CA; Pearce, S; Plagnol, V; Saldanha, JW; ... Rahman, S; + view all (2016) TRNT1 deficiency: clinical, biochemical and molecular genetic features. Orphanet Journal of Rare Diseases , 11 (90) pp. 1-14. 10.1186/s13023-016-0477-0. Green open access
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White, J; Sofat, R; Hemani, G; Shah, T; (2016) Plasma urate concentration and risk of coronary heart disease: a Mendelian randomisation analysis. The Lancet Diabetes and Endocrinology , 4 (4) pp. 327-336. 10.1016/S2213-8587(15)00386-1. Green open access
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2015

Arno, G; Hull, S; Robson, AG; Holder, GE; Cheetham, ME; Webster, AR; Plagnol, V; (2015) Lack of Interphotoreceptor Retinoid Binding Protein Caused by Homozygous Mutation of RBP3 Is Associated With High Myopia and Retinal Dystrophy. Investigative Ophthalmology and Visual Science , 56 (4) pp. 2358-2365. 10.1167/iovs.15-16520. Gold open access
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Brown, JR; Morfopoulou, S; Hubb, J; Emmett, WA; Ip, W; Shah, D; Brooks, T; ... Breuer, J; + view all (2015) Astrovirus VA1/HMO-C: An Increasingly Recognized Neurotropic Pathogen in Immunocompromised Patients. Clin Infect Dis , 60 (6) 881 - 888. 10.1093/cid/ciu940. Green open access
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Davidson, AE; Borasio, E; Liskova, P; Khan, AO; Hassan, H; Cheetham, ME; Plangol, V; ... Hardcastle, AJ; + view all (2015) Brittle Cornea Syndrome ZNF469 mutation carrier phenotype and segregation analysis of rare ZNF469 variants in familial Keratoconus. Investigative Ophthalmology & Visual Science , 56 pp. 578-586. 10.1167/iovs.14-15792. Green open access
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Haas, J; Frese, KS; Peil, B; Kloos, W; Keller, A; Nietsch, R; Feng, Z; ... Meder, B; + view all (2015) Atlas of the clinical genetics of human dilated cardiomyopathy. European Heart Journal , 36 (18) 1123-U43. 10.1093/eurheartj/ehu301. Green open access
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Leu, C; Balestrini, S; Maher, B; Hernández-Hernández, L; Gormley, P; Hämäläinen, E; Heggeli, K; ... Sisodiya, SM; + view all (2015) Genome-wide Polygenic Burden of Rare Deleterious Variants in Sudden Unexpected Death in Epilepsy. EBioMedicine , 2 (9) pp. 1063-1070. 10.1016/j.ebiom.2015.07.005. Green open access
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Lopes, LR; Syrris, P; Guttmann, OP; O'Mahony, C; Tang, HC; Dalageorgou, C; Jenkins, S; ... Elliott, PM; + view all (2015) Novel genotype-phenotype associations demonstrated by high-throughput sequencing in patients with hypertrophic cardiomyopathy. Heart , 101 (4) pp. 294-301. 10.1136/heartjnl-2014-306387. Green open access
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Mencacci, NE; Rubio-Agusti, I; Zdebik, A; Asmus, F; Ludtmann, MH; Ryten, M; Plagnol, V; ... Wood, NW; + view all (2015) A missense mutation in KCTD17 causes autosomal dominant myoclonus-dystonia. Am J Hum Genet , 96 (6) pp. 938-947. 10.1016/j.ajhg.2015.04.008. Green open access
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Nüesch, E; Dale, C; Palmer, TM; White, J; Keating, BJ; van Iperen, EP; Goel, A; ... Casas, JP; + view all (2015) Adult height, coronary heart disease and stroke: a multi-locus Mendelian randomization meta-analysis. International Journal of Epidemiology 10.1093/ije/dyv074. (In press). Green open access
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Schoeler, NE; Leu, C; White, J; Plagnol, V; Ellard, S; Matarin, M; Yellen, G; ... Sisodiya, SM; + view all (2015) Variants in KCNJ11 and BAD do not predict response to ketogenic dietary therapies for epilepsy. Epilepsy Research , 118 pp. 22-28. 10.1016/j.eplepsyres.2015.10.003. Green open access
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Shahni, R; Cale, CM; Anderson, G; Osellame, LD; Hambleton, S; Jacques, S; Wadatilake, Y; ... Rahman, S; + view all (2015) Signal transducer and activator of transcription 2 deficiency is a novel disorder of mitochondrial fission. Brain , 138 (10) pp. 2834-2846. 10.1093/brain/awv182. Green open access
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Walter, K; Min, JL; Huang, J; Crooks, L; Memari, Y; McCarthy, S; Perry, JRB; ... Zhang, W; + view all (2015) The UK10K project identifies rare variants in health and disease. Nature , 526 (7571) pp. 82-90. 10.1038/nature14962. Green open access
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Wedatilake, Y; Plagnol, V; Anderson, G; Paine, SM; Clayton, PT; Jacques, TS; Rahman, S; (2015) Tubular aggregates caused by serine active site containing 1 (SERAC1) mutations in a patient with a mitochondrial encephalopathy. Neuropathol Appl Neurobiol , 41 (3) 399 - 402. 10.1111/nan.12190. Green open access
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2014

Cortese, A; Plagnol, V; Brady, S; Simone, R; Lashley, T; Acevedo-Arozena, A; de Silva, R; ... Fratta, P; + view all (2014) Widespread RNA metabolism impairment in sporadic inclusion body myositis TDP43-proteinopathy. Neurobiology of Aging , 35 (6) pp. 1491-1498. 10.1016/j.neurobiolaging.2013.12.029. Green open access
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Davidson, AE; Cheong, SS; Hysi, PG; Venturini, C; Plagnol, V; Ruddle, JB; Ali, H; ... Hardcastle, AJ; + view all (2014) Association of CHRDL1 mutations and variants with X-linked megalocornea, Neuhäuser syndrome and central corneal thickness. PLoS One , 9 (8) , Article e104163. 10.1371/journal.pone.0104163. Green open access
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De Ascensao Santos e Sousa, P; Shorrock, H; Lomas, C; Conlan, T; Means, TK; Plagnol, V; Chakraverty, R; (2014) DC control of immunopathology: Interaction with tissue DC drives a unique transcriptional response in effector T cells. Presented at: 13th International Symposium on Dendritic Cells (DC 2014), Tours, France. Green open access
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Futema, M; Plagnol, V; Li, K; Whittall, RA; Neil, HA; Seed, M; Simon Broome Consortium, .; ... Humphries, SE; + view all (2014) Whole exome sequencing of familial hypercholesterolaemia patients negative for LDLR/APOB/PCSK9 mutations. J Med Genet , 51 (8) 537 - 544. 10.1136/jmedgenet-2014-102405. Green open access
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Giambartolomei, C; Vukcevic, D; Schadt, EE; Franke, L; Hingorani, AD; Wallace, C; Plagnol, V; (2014) Bayesian Test for Colocalisation between Pairs of Genetic Association Studies Using Summary Statistics. PLoS Genet , 10 (5) , Article e1004383. 10.1371/journal.pgen.1004383. Green open access
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Hill, M; Wright, D; Daley, R; Lewis, C; McKay, F; Mason, S; Lench, N; ... Chitty, LS; + view all (2014) Evaluation of non-invasive prenatal testing (NIPT) for aneuploidy in an NHS setting: a reliable accurate prenatal non-invasive diagnosis (RAPID) protocol. BMC Pregnancy Childbirth , 14 (1) , Article 229. 10.1186/1471-2393-14-229. Green open access
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Lo, KK; Boustred, C; Chitty, LS; Plagnol, V; (2014) RAPIDR: an analysis package for non-invasive prenatal testing of aneuploidy. Bioinformatics , 30 (20) pp. 2965-2967. 10.1093/bioinformatics/btu419. Green open access
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Mencacci, NE; Isaias, IU; Reich, MM; Ganos, C; Plagnol, V; Polke, JM; Bras, J; ... on behalf of the International Parkinson’s Disease Genomics Cons; + view all (2014) Parkinson's disease in GTP cyclohydrolase 1 mutation carriers. Brain , 137 (9) pp. 2480-2492. 10.1093/brain/awu179. Green open access
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Sergouniotis, PI; Chakarova, C; Murphy, C; Becker, M; Lenassi, E; Arno, G; Lek, M; ... Plagnol, V; + view all (2014) Biallelic variants in TTLL5, encoding a tubulin glutamylase, cause retinal dystrophy. Am J Hum Genet , 94 (5) 760 - 769. 10.1016/j.ajhg.2014.04.003. Green open access
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Zanda, M; Onengut-Gumuscu, S; Walker, N; Shtir, C; Gallo, D; Wallace, C; Smyth, D; ... Rich, SS; + view all (2014) A genome-wide assessment of the role of untagged copy number variants in type 1 diabetes. PLoS Genet , 10 (5) , Article e1004367. 10.1371/journal.pgen.1004367. Green open access
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2013

Cirak, S; Foley, AR; Herrmann, R; Willer, T; Yau, S; Stevens, E; Torelli, S; ... Muntoni, F; + view all (2013) ISPD gene mutations are a common cause of congenital and limb-girdle muscular dystrophies. Brain , 136 (1) 269 -281. 10.1093/brain/aws312. Green open access
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Fratta, P; Charnock, J; Collins, T; Devoy, A; Howard, R; Malaspina, A; Orrell, R; ... Fisher, EM; + view all (2013) Profilin1 E117G is a moderate risk factor for amyotrophic lateral sclerosis. J Neurol Neurosurg Psychiatry , 85 pp. 506-508. 10.1136/jnnp-2013-306761. Green open access
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Liu, YT; Hersheson, J; Plagnol, V; Fawcett, K; Duberley, KE; Preza, E; Hargreaves, IP; ... Houlden, H; + view all (2013) Autosomal-recessive cerebellar ataxia caused by a novel ADCK3 mutation that elongates the protein: clinical, genetic and biochemical characterisation. Journal of Neurology, Neurosurgery & Psychiatry 10.1136/jnnp-2013-306483. Green open access
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Nag, A; Bochukova, EG; Kremeyer, B; Campbell, DD; Muller, H; Valencia-Duarte, AV; Cardona, J; ... Ruiz-Linares, A; + view all (2013) CNV Analysis in Tourette Syndrome Implicates Large Genomic Rearrangements in COL8A1 and NRXN1. PLoS One , 8 (3) , Article e59061. 10.1371/journal.pone.0059061. Green open access
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Rohrer, JD; Beck, J; Plagnol, V; Gordon, E; Lashley, T; Revesz, T; Janssen, JC; ... Schott, JM; + view all (2013) Exome sequencing reveals a novel partial deletion in the progranulin gene causing primary progressive aphasia. J Neurol Neurosurg Psychiatry , 84 (12) pp. 1411-1412. 10.1136/jnnp-2013-306116. Green open access
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Schmidts, M; Arts, HH; Bongers, EM; Yap, Z; Oud, MM; Antony, D; Duijkers, L; ... Mitchison, HM; + view all (2013) Exome sequencing identifies DYNC2H1 mutations as a common cause of asphyxiating thoracic dystrophy (Jeune syndrome) without major polydactyly, renal or retinal involvement. J Med Genet , 50 (5) 309 - 323. 10.1136/jmedgenet-2012-101284. Green open access
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Shah, T; Engmann, J; Dale, C; Shah, S; White, J; Giambartolomei, C; McLachlan, S; ... UCLEB Consortium; + view all (2013) Population Genomics of Cardiometabolic Traits: Design of the University College London-London School of Hygiene and Tropical Medicine-Edinburgh-Bristol (UCLEB) Consortium. PLoS One , 8 (8) , Article e71345. 10.1371/journal.pone.0071345. Green open access
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Trabzuni, D; Ryten, M; Emmett, W; Ramasamy, A; Lackner, KJ; Zeller, T; Walker, R; ... Plagnol, V; + view all (2013) Fine-mapping, gene expression and splicing analysis of the disease associated LRRK2 Locus. PLOS ONE , 8 (8) , Article e70724. 10.1371/journal.pone.0070724. Green open access
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Tucci, A; Liu, YT; Preza, E; Pitceathly, RD; Chalasani, A; Plagnol, V; Land, JM; ... Houlden, H; + view all (2013) Novel C12orf65 mutations in patients with axonal neuropathy and optic atrophy. Journal of Neurology, Neurosurgery & Psychiatry 10.1136/jnnp-2013-306387. Green open access
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2012

Charlesworth, G; Plagnol, V; Holmström, KM; Bras, J; Sheerin, UM; Preza, E; Rubio-Agusti, I; ... Wood, NW; + view all (2012) Mutations in ANO3 cause dominant craniocervical dystonia: ion channel implicated in pathogenesis. The American Journal of Human Genetics , 91 (6) 1041 - 1050. 10.1016/j.ajhg.2012.10.024. Green open access
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Futema, M; Plagnol, V; Whittall, RA; Neil, HA; Simon Broome Register Group; Humphries, SE; UK10K; (2012) Use of targeted exome sequencing as a diagnostic tool for familial hypercholesterolaemia. Journal of Medical Genetics , 49 (10) 644 -649. 10.1136/jmedgenet-2012-101189. Green open access
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Plagnol, V; Curtis, J; Epstein, M; Mok, KY; Stebbings, E; Grigoriadou, S; Wood, NW; ... Nejentsev, S; + view all (2012) A robust model for read count data in exome sequencing experiments and implications for copy number variant calling. Bioinformatics , 28 (21) 2747 - 2754. 10.1093/bioinformatics/bts526. Gold open access
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Tucci, A; Charlesworth, G; Sheerin, UM; Plagnol, V; Wood, NW; Hardy, J; (2012) Study of the genetic variability in a Parkinson's Disease gene: EIF4G1. Neurosci Lett , 518 (1) 19 - 22. 10.1016/j.neulet.2012.04.033. Green open access
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2011

Plagnol, V; Howson, JMM; Smyth, DJ; Walker, N; Hafler, JP; Wallace, C; Stevens, H; ... Type 1 Diabet Genetics Consortium; + view all (2011) Genome-Wide Association Analysis of Autoantibody Positivity in Type 1 Diabetes Cases. PLOS GENET , 7 (8) , Article e1002216. 10.1371/journal.pgen.1002216. Green open access
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Plagnol, V; Nalls, MA; Bras, JM; Hernandez, DG; Sharma, M; Sheerin, UM; Saad, M; ... WTCCC2; + view all (2011) A Two-Stage Meta-Analysis Identifies Several New Loci for Parkinson's Disease. PLoS Genetics , 7 (6) , Article e1002142. 10.1371/journal.pgen.1002142. Green open access
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2008

Plagnol, V; Uz, E; Wallace, C; Stevens, H; Clayton, D; Ozcelik, T; Todd, JA; (2008) Extreme Clonality in Lymphoblastoid Cell Lines with Implications for Allele Specific Expression Analyses. PLOS ONE , 3 (8) , Article e2966. 10.1371/journal.pone.0002966. Green open access
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2006

Plagnol, V; Wall, JD; (2006) Possible ancestral structure in human populations. PLoS Genetics , 2 (7) , Article e105. 10.1371/journal.pgen.0020105. Green open access
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2005

Nordborg, M; Hu, TT; Ishino, Y; Jhaveri, J; Toomajian, C; Zheng, H; Bakker, E; ... Bergelson, J; + view all (2005) The pattern of polymorphism in Arabidopsis thaliana. PLoS Biology , 3 (7) , Article e196. 10.1371/journal.pbio.0030196. Green open access
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This list was generated on Sun Mar 17 03:01:47 2024 GMT.