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Number of items: 143.

2016

Abdelkarim, S; Morgan, S; Plagnol, V; Lu, CH; Adamson, G; Howard, R; Malaspina, A; (2016) CHCHD10 Pro34Ser is not a highly penetrant pathogenic variant for amyotrophic lateral sclerosis and frontotemporal dementia. Brain , 139 (Pt 2) , Article e9. 10.1093/brain/awv223.

Chandra, A; Zhang, F; Gilmour, KC; Webster, D; Plagnol, V; Kumararatne, DS; Burns, SO; (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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Joyce, PI; Fratta, P; Landman, AS; Mcgoldrick, P; Wackerhage, H; Groves, M; Busam, BS; (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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Lo, KK; Karampetsou, E; Boustred, C; McKay, F; Mason, S; Hill, M; Plagnol, V; (2016) Limited Clinical Utility of Non-invasive Prenatal Testing for Subchromosomal Abnormalities. Am J Hum Genet , 98 (1) pp. 34-44. 10.1016/j.ajhg.2015.11.016.

2015

AlFawaz, S; Plagnol, V; Wong, FS; Kelsell, DP; (2015) A novel frameshift MSX1 mutation in a Saudi family with autosomal dominant premolar and third molar agenesis. Arch Oral Biol , 60 (7) pp. 982-988. 10.1016/j.archoralbio.2015.02.023.

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. Invest Ophthalmol Vis Sci , 56 (4) pp. 2358-2365. 10.1167/iovs.15-16520. Green open access
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Bland, PJ; Chronnell, C; Plagnol, V; Kayserili, H; Kelsell, DP; (2015) A severe collodion phenotype in the newborn period associated with a homozygous missense mutation in ALOX12B. Br J Dermatol , 173 (1) pp. 285-287. 10.1111/bjd.13627.

Brown, JR; Morfopoulou, S; Hubb, J; Emmett, WA; Ip, W; Shah, D; Brooks, T; (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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Cooper, NJ; Shtir, CJ; Smyth, DJ; Guo, H; Swafford, AD; Zanda, M; Hurles, ME; (2015) Detection and correction of artefacts in estimation of rare copy number variants and analysis of rare deletions in type 1 diabetes. Hum Mol Genet , 24 (6) pp. 1774-1790. 10.1093/hmg/ddu581.

Curtis, J; Luo, Y; Zenner, HL; Cuchet-Lourenço, D; Wu, C; Lo, K; Maes, M; (2015) Susceptibility to tuberculosis is associated with variants in the ASAP1 gene encoding a regulator of dendritic cell migration. Nat Genet , 47 (5) pp. 523-527. 10.1038/ng.3248.

Davidson, AE; Borasio, E; Liskova, P; Khan, AO; Hassan, H; Cheetham, ME; Plangol, V; (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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Ekong, R; Emmett, W; Dawson, NL; Futema, M; Plagnol, V; Humphries, SE; Povey, MS; (2015) 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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El-Asrag, ME; Sergouniotis, PI; McKibbin, M; Plagnol, V; Sheridan, E; Waseem, N; Abdelhamed, Z; (2015) Biallelic mutations in the autophagy regulator DRAM2 cause retinal dystrophy with early macular involvement. Am J Hum Genet , 96 (6) pp. 948-954. 10.1016/j.ajhg.2015.04.006.

Haas, J; Frese, KS; Peil, B; Kloos, W; Keller, A; Nietsch, R; Feng, Z; (2015) Atlas of the clinical genetics of human dilated cardiomyopathy. Eur Heart J , 36 (18) 1123-135a. 10.1093/eurheartj/ehu301.

Hufnagel, RB; Arno, G; Hein, ND; Hersheson, J; Prasad, M; Anderson, Y; Krueger, LA; (2015) Neuropathy target esterase impairments cause Oliver-McFarlane and Laurence-Moon syndromes. J Med Genet , 52 (2) pp. 85-94. 10.1136/jmedgenet-2014-102856.

Hull, S; Arno, G; Plagnol, V; Robson, A; Webster, AR; Moore, AT; (2015) Exome sequencing reveals ADAM9 mutations in a child with cone-rod dystrophy. Acta Ophthalmol , 93 (5) e392-e393. 10.1111/aos.12592.

Kanabus, M; Shahni, R; Saldanha, JW; Murphy, E; Plagnol, V; Hoff, WV; Heales, S; (2015) Bi-allelic CLPB mutations cause cataract, renal cysts, nephrocalcinosis and 3-methylglutaconic aciduria, a novel disorder of mitochondrial protein disaggregation. J Inherit Metab Dis , 38 (2) pp. 211-219. 10.1007/s10545-015-9813-0.

Leu, C; Balestrini, S; Maher, B; Hernández-Hernández, L; Gormley, P; Hämäläinen, E; Heggeli, K; (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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Lin, Z; Zhao, J; Nitoiu, D; Scott, CA; Plagnol, V; Smith, FJ; Wilson, NJ; (2015) Loss-of-function mutations in CAST cause peeling skin, leukonychia, acral punctate keratoses, cheilitis, and knuckle pads. Am J Hum Genet , 96 (3) pp. 440-447. 10.1016/j.ajhg.2014.12.026.

Lopes, LR; Murphy, C; Syrris, P; Dalageorgou, C; McKenna, WJ; Elliott, PM; Plagnol, V; (2015) Use of high-throughput targeted exome-sequencing to screen for copy number variation in hypertrophic cardiomyopathy. Eur J Med Genet , 58 (11) pp. 611-616. 10.1016/j.ejmg.2015.10.001.

Mencacci, NE; Rubio-Agusti, I; Zdebik, A; Asmus, F; Ludtmann, MH; Ryten, M; Plagnol, V; (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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Mistry, V; Bockett, NA; Levine, AP; Mirza, MM; Hunt, KA; Ciclitira, PJ; Hummerich, H; (2015) Exome sequencing of 75 individuals from multiply affected coeliac families and large scale resequencing follow up. PLoS One , 10 (1) , Article e0116845. 10.1371/journal.pone.0116845.

Morfopoulou, S; Plagnol, V; (2015) Bayesian mixture analysis for metagenomic community profiling. Bioinformatics , 31 (18) pp. 2930-2938. 10.1093/bioinformatics/btv317.

Nalls, MA; Bras, J; Hernandez, DG; Keller, MF; Majounie, E; Renton, AE; Saad, M; (2015) NeuroX, a fast and efficient genotyping platform for investigation of neurodegenerative diseases. Neurobiol Aging , 36 (3) 1605.e7-1605.12. 10.1016/j.neurobiolaging.2014.07.028.

Nüesch, E; Dale, C; Palmer, TM; White, J; Keating, BJ; van Iperen, EP; Goel, A; (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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Record, J; Malinova, D; Zenner, HL; Plagnol, V; Nowak, K; Syed, F; Bouma, G; (2015) Immunodeficiency and severe susceptibility to bacterial infection associated with a loss-of-function homozygous mutation of MKL1. In: (pp. pp. 1527-1535).

Scheidecker, S; Etard, C; Haren, L; Stoetzel, C; Hull, S; Arno, G; Plagnol, V; (2015) Mutations in TUBGCP4 alter microtubule organization via the γ-tubulin ring complex in autosomal-recessive microcephaly with chorioretinopathy. Am J Hum Genet , 96 (4) pp. 666-674. 10.1016/j.ajhg.2015.02.011.

Schoeler, NE; Leu, C; White, J; Plagnol, V; Ellard, S; Matarin, M; Yellen, G; (2015) Variants in KCNJ11 and BAD do not predict response to ketogenic dietary therapies for epilepsy. Epilepsy Res , 118 pp. 22-28. 10.1016/j.eplepsyres.2015.10.003.

Shahni, R; Cale, CM; Anderson, G; Osellame, LD; Hambleton, S; Jacques, S; Wadatilake, Y; (2015) Signal transducer and activator of transcription 2 deficiency is a novel disorder of mitochondrial fission. Brain A Journal of Neurology 10.1093/brain/awv182. (In press). Green open access
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Sibley, CR; Emmett, W; Blazquez, L; Faro, A; Haberman, N; Briese, M; Trabzuni, D; (2015) Recursive splicing in long vertebrate genes. Nature , 521 (7552) pp. 371-375. 10.1038/nature14466.

Tummala, H; Walne, A; Collopy, L; Cardoso, S; de la Fuente, J; Lawson, S; Powell, J; (2015) Poly(A)-specific ribonuclease deficiency impacts telomere biology and causes dyskeratosis congenita. J Clin Invest , 125 (5) pp. 2151-2160. 10.1172/JCI78963.

UK10K Consortium, ; Walter, K; Min, JL; Huang, J; Crooks, L; Memari, Y; McCarthy, S; (2015) The UK10K project identifies rare variants in health and disease. Nature , 526 (7571) pp. 82-90. 10.1038/nature14962.

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

Borman, AD; Pearce, LR; Mackay, DS; Nagel-Wolfrum, K; Davidson, AE; Henderson, R; Garg, S; (2014) A homozygous mutation in the TUB gene associated with retinal dystrophy and obesity. Hum Mutat , 35 (3) pp. 289-293. 10.1002/humu.22482.

Brooke, MA; Longhurst, HJ; Plagnol, V; Kirkby, NS; Mitchell, JA; Rüschendorf, F; Warner, TD; (2014) Cryptogenic multifocal ulcerating stenosing enteritis associated with homozygous deletion mutations in cytosolic phospholipase A2-α. Gut , 63 (1) pp. 96-104. 10.1136/gutjnl-2012-303581.

Burns, SO; Plagnol, V; Gutierrez, BM; Al Zahrani, D; Curtis, J; Gaspar, M; Hassan, A; (2014) Immunodeficiency and disseminated mycobacterial infection associated with homozygous nonsense mutation of IKKβ. J Allergy Clin Immunol , 134 (1) pp. 215-218. 10.1016/j.jaci.2013.12.1093.

Cortese, A; Plagnol, V; Brady, S; Simone, R; Lashley, T; Acevedo-Arozena, A; de Silva, R; (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; (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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Djukanović, R; Harrison, T; Johnston, SL; Gabbay, F; Wark, P; Thomson, NC; Niven, R; (2014) The effect of inhaled IFN-β on worsening of asthma symptoms caused by viral infections. A randomized trial. Am J Respir Crit Care Med , 190 (2) pp. 145-154. 10.1164/rccm.201312-2235OC.

Futema, M; Plagnol, V; Li, K; Whittall, RA; Neil, HA; Seed, M; Simon Broome Consortium, .; (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; (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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Hull, S; Arno, G; Plagnol, V; Chamney, S; Russell-Eggitt, I; Thompson, D; Ramsden, SC; (2014) The phenotypic variability of retinal dystrophies associated with mutations in CRX, with report of a novel macular dystrophy phenotype. Invest Ophthalmol Vis Sci , 55 (10) pp. 6934-6944. 10.1167/iovs.14-14715.

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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Lopes, LR; Syrris, P; Guttmann, OP; O'Mahony, C; Tang, HC; Dalageorgou, C; Jenkins, S; (2014) Novel genotype-phenotype associations demonstrated by high-throughput sequencing in patients with hypertrophic cardiomyopathy. Heart 10.1136/heartjnl-2014-306387. (In press). Green open access
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Mencacci, NE; Isaias, IU; Reich, MM; Ganos, C; Plagnol, V; Polke, JM; Bras, J; (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; (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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Tummala, H; Kirwan, M; Walne, AJ; Hossain, U; Jackson, N; Pondarre, C; Plagnol, V; (2014) ERCC6L2 mutations link a distinct bone-marrow-failure syndrome to DNA repair and mitochondrial function. Am J Hum Genet , 94 (2) pp. 246-256. 10.1016/j.ajhg.2014.01.007.

Zanda, M; Onengut-Gumuscu, S; Walker, N; Shtir, C; Gallo, D; Wallace, C; Smyth, D; (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

Alfawaz, S; Fong, F; Plagnol, V; Wong, FS; Fearne, J; Kelsell, DP; (2013) Recessive oligodontia linked to a homozygous loss-of-function mutation in the SMOC2 gene. Arch Oral Biol , 58 (5) pp. 462-466. 10.1016/j.archoralbio.2012.12.008.

Angulo, I; Vadas, O; Garçon, F; Banham-Hall, E; Plagnol, V; Leahy, TR; Baxendale, H; (2013) Phosphoinositide 3-kinase δ gene mutation predisposes to respiratory infection and airway damage. Science , 342 (6160) pp. 866-871. 10.1126/science.1243292.

Ba-Abbad, R; Sergouniotis, PI; Plagnol, V; Robson, AG; Michaelides, M; Holder, GE; Webster, AR; (2013) Clinical characteristics of early retinal disease due to CDHR1 mutation. Mol Vis , 19 pp. 2250-2259.

Blaydon, DC; Lind, LK; Plagnol, V; Linton, KJ; Smith, FJ; Wilson, NJ; McLean, WH; (2013) Mutations in AQP5, encoding a water-channel protein, cause autosomal-dominant diffuse nonepidermolytic palmoplantar keratoderma. Am J Hum Genet , 93 (2) pp. 330-335. 10.1016/j.ajhg.2013.06.008.

Cirak, S; Foley, AR; Herrmann, R; Willer, T; Yau, S; Stevens, E; Torelli, S; (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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Davidson, AE; Schwarz, N; Zelinger, L; Stern-Schneider, G; Shoemark, A; Spitzbarth, B; Gross, M; (2013) Mutations in ARL2BP, encoding ADP-ribosylation-factor-like 2 binding protein, cause autosomal-recessive retinitis pigmentosa. Am J Hum Genet , 93 (2) pp. 321-329. 10.1016/j.ajhg.2013.06.003.

Davidson, AE; Sergouniotis, PI; Mackay, DS; Wright, GA; Waseem, NH; Michaelides, M; Holder, GE; (2013) RP1L1 variants are associated with a spectrum of inherited retinal diseases including retinitis pigmentosa and occult macular dystrophy. Hum Mutat , 34 (3) pp. 506-514. 10.1002/humu.22264.

Fratta, P; Charnock, J; Collins, T; Devoy, A; Howard, R; Malaspina, A; Orrell, R; (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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Haghighi, A; Scott, CA; Poon, DS; Yaghoobi, R; Saleh-Gohari, N; Plagnol, V; Kelsell, DP; (2013) A missense mutation in the MBTPS2 gene underlies the X-linked form of Olmsted syndrome. J Invest Dermatol , 133 (2) pp. 571-573. 10.1038/jid.2012.289.

Hersheson, J; Mencacci, NE; Davis, M; MacDonald, N; Trabzuni, D; Ryten, M; Pittman, A; (2013) Mutations in the autoregulatory domain of β-tubulin 4a cause hereditary dystonia. Ann Neurol , 73 (4) pp. 546-553. 10.1002/ana.23832.

Hunt, KA; Mistry, V; Bockett, NA; Ahmad, T; Ban, M; Barker, JN; Barrett, JC; (2013) Negligible impact of rare autoimmune-locus coding-region variants on missing heritability. Nature , 498 (7453) pp. 232-235. 10.1038/nature12170.

Liu, YT; Hersheson, J; Plagnol, V; Fawcett, K; Duberley, KE; Preza, E; Hargreaves, IP; (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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Lopes, LR; Zekavati, A; Syrris, P; Hubank, M; Giambartolomei, C; Dalageorgou, C; Jenkins, S; (2013) Genetic complexity in hypertrophic cardiomyopathy revealed by high-throughput sequencing. J Med Genet , 50 (4) pp. 228-239. 10.1136/jmedgenet-2012-101270. Gold open access

Nag, A; Bochukova, EG; Kremeyer, B; Campbell, DD; Muller, H; Valencia-Duarte, AV; Cardona, J; (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; (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; (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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Schmidts, M; Arts, HH; Bongers, EM; Yap, Z; Oud, MM; Antony, D; Duijkers, L; (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) pp. 309-323. 10.1136/jmedgenet-2012-101284.

Scott, CA; Plagnol, V; Nitoiu, D; Bland, PJ; Blaydon, DC; Chronnell, CM; Poon, DS; (2013) Targeted sequence capture and high-throughput sequencing in the molecular diagnosis of ichthyosis and other skin diseases. J Invest Dermatol , 133 (2) pp. 573-576. 10.1038/jid.2012.332.

Shah, T; Engmann, J; Dale, C; Shah, S; White, J; Giambartolomei, C; McLachlan, S; (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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Tarkar, A; Loges, NT; Slagle, CE; Francis, R; Dougherty, GW; Tamayo, JV; Shook, B; (2013) DYX1C1 is required for axonemal dynein assembly and ciliary motility. Nat Genet , 45 (9) pp. 995-1003. 10.1038/ng.2707.

Thorne, T; Fratta, P; Hanna, MG; Cortese, A; Plagnol, V; Fisher, EM; Stumpf, MP; (2013) Graphical modelling of molecular networks underlying sporadic inclusion body myositis. Mol Biosyst , 9 (7) pp. 1736-1742. 10.1039/c3mb25497f.

Trabzuni, D; Ryten, M; Emmett, W; Ramasamy, A; Lackner, KJ; Zeller, T; Walker, R; (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; Kara, E; Schossig, A; Wolf, NI; Plagnol, V; Fawcett, K; Paisán-Ruiz, C; (2013) Kohlschütter-Tönz syndrome: mutations in ROGDI and evidence of genetic heterogeneity. Hum Mutat , 34 (2) pp. 296-300. 10.1002/humu.22241.

Tucci, A; Liu, YT; Preza, E; Pitceathly, RD; Chalasani, A; Plagnol, V; Land, JM; (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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Walne, AJ; Vulliamy, T; Kirwan, M; Plagnol, V; Dokal, I; (2013) Constitutional mutations in RTEL1 cause severe dyskeratosis congenita. Am J Hum Genet , 92 (3) pp. 448-453. 10.1016/j.ajhg.2013.02.001.

2012

Blaydon, DC; Etheridge, SL; Risk, JM; Hennies, HC; Gay, LJ; Carroll, R; Plagnol, V; (2012) RHBDF2 mutations are associated with tylosis, a familial esophageal cancer syndrome. Am J Hum Genet , 90 (2) pp. 340-346. 10.1016/j.ajhg.2011.12.008.

Burns, SO; Zenner, HL; Plagnol, V; Curtis, J; Mok, K; Eisenhut, M; Kumararatne, D; (2012) LRBA gene deletion in a patient presenting with autoimmunity without hypogammaglobulinemia. J Allergy Clin Immunol , 130 (6) pp. 1428-1432. 10.1016/j.jaci.2012.07.035.

Charlesworth, G; Plagnol, V; Holmström, KM; Bras, J; Sheerin, UM; Preza, E; Rubio-Agusti, I; (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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Cipriani, V; Leung, HT; Plagnol, V; Bunce, C; Khan, JC; Shahid, H; Moore, AT; (2012) Genome-wide association study of age-related macular degeneration identifies associated variants in the TNXB-FKBPL-NOTCH4 region of chromosome 6p21.3. Hum Mol Genet , 21 (18) pp. 4138-4150. 10.1093/hmg/dds225.

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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Kirwan, M; Walne, AJ; Plagnol, V; Velangi, M; Ho, A; Hossain, U; Vulliamy, T; (2012) Exome sequencing identifies autosomal-dominant SRP72 mutations associated with familial aplasia and myelodysplasia. Am J Hum Genet , 90 (5) pp. 888-892. 10.1016/j.ajhg.2012.03.020.

Lopes, L; Syrris, P; Hubank, M; Giambartolomei, C; Zekavati, A; Dalageorgou, C; Jenkins, S; (2012) GENETIC COMPLEXITY IN HYPERTROPHIC CARDIOMYOPATHY: PRELIMINARY FINDINGS WITH NEXT GENERATION SEQUENCING. Presented at: UNSPECIFIED.

Mead, S; Uphill, J; Beck, J; Poulter, M; Campbell, T; Lowe, J; Adamson, G; (2012) Genome-wide association study in multiple human prion diseases suggests genetic risk factors additional to PRNP. Hum Mol Genet , 21 (8) pp. 1897-1906. 10.1093/hmg/ddr607.

Pillay, N; Plagnol, V; Tarpey, PS; Lobo, SB; Presneau, N; Szuhai, K; Halai, D; (2012) A common single-nucleotide variant in T is strongly associated with chordoma. Nat Genet , 44 (11) pp. 1185-1187. 10.1038/ng.2419.

Plagnol, V; (2012) A robust statistical model for read count data in exome sequencing experiments and application to copy number variant calling. In: (Proceedings) Royal Statistical Society Merseyside.

Plagnol, V; (2012) Role of rare and complex multi allelic copy number variants in human diseases. In: (Proceedings) Genomic Medicine.

Plagnol, V; Curtis, J; Epstein, M; Mok, KY; Stebbings, E; Grigoriadou, S; Wood, NW; (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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Sailer, A; Scholz, SW; Gibbs, JR; Tucci, A; Johnson, JO; Wood, NW; Plagnol, V; (2012) Exome sequencing in an SCA14 family demonstrates its utility in diagnosing heterogeneous diseases. Neurology , 79 (2) pp. 127-131. 10.1212/WNL.0b013e31825f048e. Gold open access

Scott, C; Bland, P; Plagnol, V; Nitoiu, D; Poon, D; O'Toole, E; Kelsell, D; (2012) Next-generation sequencing in genetic diagnosis of skin disease. In: BRITISH JOURNAL OF DERMATOLOGY. (pp. e34 - e34).

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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Walne, AJ; Dokal, A; Plagnol, V; Beswick, R; Kirwan, M; de la Fuente, J; Vulliamy, T; (2012) Exome sequencing identifies MPL as a causative gene in familial aplastic anemia. Haematologica , 97 (4) pp. 524-528. 10.3324/haematol.2011.052787.

Zanda, M; Onengut, S; Walker, N; Todd, JA; Clayton, DG; Rich, SS; Hurles, ME; (2012) Validity of the family-based association test for copy number variant data in the case of non-linear intensity-genotype relationship. Genet Epidemiol , 36 (8) pp. 895-898. 10.1002/gepi.21674.

2011

Blaydon, D; Biancheri, P; Di, WL; Plagnol, V; Cabral, R; Brooke, M; Martin, J; (2011) A homozygous deletion mutation in ADAM17 underlies an autosomal recessive inflammatory skin and bowel disease. In: JOURNAL OF INVESTIGATIVE DERMATOLOGY. (pp. S62 - S62). NATURE PUBLISHING GROUP

Blaydon, DC; Biancheri, P; Di, WL; Plagnol, V; Cabral, RM; Brooke, MA; van Heel, DA; (2011) Inflammatory Skin and Bowel Disease Linked to ADAM17 Deletion. NEW ENGL J MED , 365 (16) 1502 - 1508.

Nalls, MA; Plagnol, V; Hernandez, DG; Sharma, M; Sheerin, UM; Saad, M; Simon-Sanchez, J; (2011) Imputation of sequence variants for identification of genetic risks for Parkinson's disease: a meta-analysis of genome-wide association studies. LANCET , 377 (9766) 641 - 649. 10.1016/S0140-6736(10)62345-8.

Plagnol, V; (2011) Statistical and computational applications of short read DNA sequencing for viral sequence discovery. In: (Proceedings) International Biometric Society, British and Irish Region, Meeting on Statistical Analysis of Metagenomic Data.

Plagnol, V; (2011) From common to rare: the spectrum of genetic variation in autoimmune and primary immunodeficiency disorders. In:

Plagnol, V; Howson, JMM; Smyth, DJ; Walker, N; Hafler, JP; Wallace, C; Stevens, H; (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; (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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Sergouniotis, PI; Davidson, AE; Mackay, DS; Lenassi, E; Li, Z; Robson, AG; Yang, X; (2011) Biallelic mutations in PLA2G5, encoding group V phospholipase A2, cause benign fleck retina. Am J Hum Genet , 89 (6) pp. 782-791. 10.1016/j.ajhg.2011.11.004.

Sergouniotis, PI; Davidson, AE; Mackay, DS; Li, Z; Yang, X; Plagnol, V; Moore, AT; (2011) Recessive Mutations in KCNJ13, Encoding an Inwardly Rectifying Potassium Channel Subunit, Cause Leber Congenital Amaurosis. AM J HUM GENET , 89 (1) 183 - 190. 10.1016/j.ajhg.2011.06.002. Gold open access

Spencer, CCA; Plagnol, V; Strange, A; Gardner, M; Paisan-Ruiz, C; Band, G; Barker, RA; (2011) Dissection of the genetics of Parkinson's disease identifies an additional association 5 ' of SNCA and multiple associated haplotypes at 17q21. HUM MOL GENET , 20 (2) 345 - 353. 10.1093/hmg/ddq469.

Szperl, AM; Ricano-Ponce, I; Li, JK; Deelen, P; Kanterakis, A; Plagnol, V; van Dijk, F; (2011) Exome sequencing in a family segregating for celiac disease. CLIN GENET , 80 (2) 138 - 147. 10.1111/j.1399-0004.2011.01714.x.

Trynka, G; Hunt, KA; Bockett, NA; Romanos, J; Mistry, V; Szperl, A; Bakker, SF; (2011) Dense genotyping identifies and localizes multiple common and rare variant association signals in celiac disease. Nat Genet , 43 (12) pp. 1193-1201. 10.1038/ng.998.

2010

Craddock, N; Hurles, ME; Cardin, N; Pearson, RD; Plagnol, V; Robson, S; Vukcevic, D; (2010) Genome-wide association study of CNVs in 16,000 cases of eight common diseases and 3,000 shared controls. NATURE , 464 (7289) 713 - U86. 10.1038/nature08979.

Heap, GA; Yang, JHM; Downes, K; Healy, BC; Hunt, KA; Bockett, N; Franke, L; (2010) Genome-wide analysis of allelic expression imbalance in human primary cells by high-throughput transcriptome resequencing. HUM MOL GENET , 19 (1) 122 - 134. 10.1093/hmg/ddp473.

Plagnol, V; (2010) Multivariate mixture models for scoring copy number variation in genetic association studies. In: (Proceedings) International Biometric Society, International meeting.

Plagnol, V; (2010) A genome-wide copy number variant association study for eight common disorders in 16,000 cases and 3,000 controls. In: (Proceedings) European Society of Human Genetics.

Plagnol, V; (2010) A genome-wide copy number variant association study for eight common disorders in 16,000 cases and 3,000 controls,. In: (Proceedings) Genomics Disorders.

Plagnol, V; (2010) Haplotypes in the IL2RA region associated with diabetes and expression of the IL2RA protein on lymphocytes populations. M S-MED SCI , 26 (3) 236 - 238.

Plagnol, V; (2010) Allele specific expression analysis by high throughput sequencing. In: (Proceedings) Southern England Genetic Epidemiology group.

Plagnol, V; Clayton, D; (2010) Copy number variant association studies. In: Zeggini, E and Morris, A, (eds.) Analysis of Complex Disease Association Studies. (? - ?). Academic Press

Whibley, AC; Plagnol, V; Tarpey, PS; Abidi, F; Fullston, T; Choma, MK; Boucher, CA; (2010) Fine-Scale Survey of X Chromosome Copy Number Variants and Indels Underlying Intellectual Disability. AM J HUM GENET , 87 (2) 173 - 188. 10.1016/j.ajhg.2010.06.017.

2009

Barrett, JC; Clayton, DG; Concannon, P; Akolkar, B; Cooper, JD; Erlich, HA; Julier, C; (2009) Genome-wide association study and meta-analysis find that over 40 loci affect risk of type 1 diabetes. NAT GENET , 41 (6) 703 - 707. 10.1038/ng.381.

Dendrou, CA; Fung, E; Esposito, L; Todd, JA; Wicker, LS; Plagnol, V; (2009) Fluorescence intensity normalisation: correcting for time effects in large-scale flow cytometric analysis. Adv Bioinformatics 476106-. 10.1155/2009/476106. Gold open access

Dendrou, CA; Plagnol, V; Fung, E; Yang, JHM; Downes, K; Cooper, JD; Nutland, S; (2009) Cell-specific protein phenotypes for the autoimmune locus IL2RA using a genotype-selectable human bioresource. NAT GENET , 41 (9) 1011 - U80. 10.1038/ng.434.

Hafler, JP; Maier, LM; Cooper, JD; Plagnol, V; Hinks, A; Simmonds, MJ; Stevens, HE; (2009) CD226 Gly307Ser association with multiple autoimmune diseases. GENES IMMUN , 10 (1) 5 - 10. 10.1038/gene.2008.82.

Plagnol, V; (2009) Following-up on association studies and fine-mapping of T1D loci. In:

Plagnol, V; (2009) Association tests and software for copy number variant data. Hum Genomics , 3 (2) pp. 191-194.

Plagnol, V; Smyth, DJ; Todd, JA; Clayton, DG; (2009) Statistical independence of the colocalized association signals for type 1 diabetes and RPS26 gene expression on chromosome 12q13. BIOSTATISTICS , 10 (2) 327 - 334. 10.1093/biostatistics/kxn039.

Wall, JD; Lohmueller, KE; Plagnol, V; (2009) Detecting Ancient Admixture and Estimating Demographic Parameters in Multiple Human Populations. MOL BIOL EVOL , 26 (8) 1823 - 1827. 10.1093/molbev/msp096.

2008

Barnes, C; Plagnol, V; Fitzgerald, T; Redon, R; Marchini, J; Clayton, D; Hurles, ME; (2008) A robust statistical method for case-control association testing with copy number variation. NAT GENET , 40 (10) 1245 - 1252.

Cooper, JD; Smyth, DJ; Smiles, AM; Plagnol, V; Walker, NM; Allen, JE; Downes, K; (2008) Meta-analysis of genome-wide association study data identifies additional type 1 diabetes risk loci. NAT GENET , 40 (12) 1399 - 1401. 10.1038/ng.249.

Plagnol, V; (2008) Genotyping methods for association studies. In: (Proceedings) ECNIS workshop.

Plagnol, V; (2008) Shared genetic association between a disease and a quantitative trait: evidence for a common causal variant? In: (Proceedings) International Biometric Society, International meeting.

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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Smyth, DJ; Cooper, JD; Howson, JMM; Walker, NM; Plagnol, V; Stevens, H; Clayton, DG; (2008) PTPN22 Trp(620) explains the association of chromosome 1p13 with type 1 diabetes and shows a statistical interaction with HLA class II genotypes. DIABETES , 57 (6) 1730 - 1737. 10.2337/db07-1131.

Smyth, DJ; Plagnol, V; Walker, NM; Cooper, JD; Downes, K; Yang, JHM; Howson, JMM; (2008) Shared and Distinct Genetic Variants in Type 1 Diabetes and Celiac Disease. NEW ENGL J MED , 359 (26) 2767 - 2777.

Willcocks, LC; Lyons, PA; Clatworthy, MR; Robinson, JI; Yang, W; Newland, SA; Plagnol, V; (2008) Copy number of FCGR3B, which is associated with systemic lupus erythematosus, correlates with protein expression and immune complex uptake. J EXP MED , 205 (7) 1573 - 1582. 10.1084/jem.20072413.

2007

Hunter, K; Rainbow, D; Plagnol, V; Todd, JA; Peterson, LB; Wicker, LS; (2007) Interactions between Idd5.1/Ctla4 and other type 1 diabetes genes. J IMMUNOL , 179 (12) 8341 - 8349.

Kim, S; Plagnol, V; Hu, TT; Toomajian, C; Clark, RM; Ossowski, S; Ecker, JR; (2007) Recombination and linkage disequilibrium in Arabidopsis thaliana. NAT GENET , 39 (9) 1151 - 1155. 10.1038/ng2115.

Lowe, CE; Cooper, JD; Brusko, T; Walker, NM; Smyth, DJ; Bailey, R; Bourget, K; (2007) Large-scale genetic fine mapping and genotype-phenotype associations implicate polymorphism in the IL2RA region in type 1 diabetes. NAT GENET , 39 (9) 1074 - 1082. 10.1038/ng2102.

Plagnol, V; (2007) Type 1 diabetes research after successful association studies: what is next? In: (Proceedings) Joint 2007 EBI/Cambridge University Research Symposium, European Bioinformatics Institute.

Plagnol, V; (2007) Inference on copy number variation in case-control data. In: (Proceedings) International Biometric Society, British and Irish Region.

Plagnol, V; (2007) JDRF/WT DIL and WTCCC: Results of two type 1 diabetes genome-wide association studies. In: (Proceedings) European Society of Human Genetics.

Plagnol, V; (2007) JDRF/WT DIL and WTCCC: Results of two type 1 diabetes genome-wide association studies. In: (Proceedings) Federation of Clinical Immunology Society.

Tang, CL; Toomajian, C; Sherman-Broyles, S; Plagnol, V; Guo, YL; Hu, TT; Clark, RM; (2007) The evolution of selfing in Arabidopsis thaliana. SCIENCE , 317 (5841) 1070 - 1072. 10.1126/science.1143153.

Todd, JA; Walker, NM; Cooper, JD; Smyth, DJ; Downes, K; Plagnol, V; Bailey, R; (2007) Robust associations of four new chromosome regions from genome-wide analyses of type 1 diabetes. NAT GENET , 39 (7) 857 - 864. 10.1038/ng2068.

2006

Plagnol, V; (2006) Evidence for ancestral structure in human populations. In: (Proceedings) Molecular Biology and Evolution meeting.

Plagnol, V; (2006) Evidence for ancestral structure in human populations. In: (Proceedings) Beyond HapMap: 3 Annual International Community Analysis Meeting.

Plagnol, V; Padhukasahasram, B; Wall, JD; Marjoram, P; Nordborg, M; (2006) Relative influences of crossing over and gene conversion on the pattern of linkage disequilibrium in Arabidopsis thaliana. Genetics , 172 (4) pp. 2441-2448. 10.1534/genetics.104.040311.

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; (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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2003

Marjoram, P; Molitor, J; Plagnol, V; Tavare, S; (2003) Markov chain Monte Carlo without likelihoods. Proc Natl Acad Sci U S A , 100 (26) pp. 15324-15328. 10.1073/pnas.0306899100.

This list was generated on Sun May 22 17:11:09 2016 BST.