Browse by UCL people
Group by: Type | Date
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.
|
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.
|
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.
|
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.
|
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.
|
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.
|
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.
|
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.
|
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.
|
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.
|
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.
|
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.
|
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.
|
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.
|
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.
|
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.
|
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.
|
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.
|
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.
|
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.
|
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.
|
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.
|
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.
|
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.
|
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.
|
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.
|
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.
|
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.
|
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.
|
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.
|
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.
|
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.
|
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.
|
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.
|
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.
|
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.
|
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.
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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.
|
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.
|
Emmett, WA;
(2016)
Computational identification of regulatory features affecting splicing in the human brain.
Doctoral thesis , UCL (University College London).
|
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.
|
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.
|
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.
|
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.
|
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.
|
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.
|
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.
|
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.
|
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.
|
Murphy, C;
(2016)
Dissecting the genetic architecture of cardiac disorders through the use of next generation sequencing.
Doctoral thesis , UCL (University College London).
|
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.
|
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.
|
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.
|
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.
|
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.
|
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.
|
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.
|
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.
|
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.
|
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.
|
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.
|
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.
|
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.
|
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.
|
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).
|
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.
|
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.
|
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.
|
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.
|
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.
|
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.
|
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.
|
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.
|
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.
|
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.
|
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.
|
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.
|
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.
|
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.
|
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.
|
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.
|
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.
|
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.
|
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.
|
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.
|
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.
|
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.
|
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.
|
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.
|
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.
|
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.
|
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.
|
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.
|
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.
|
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.
|
2006
Plagnol, V;
Wall, JD;
(2006)
Possible ancestral structure in human populations.
PLoS Genetics
, 2
(7)
, Article e105. 10.1371/journal.pgen.0020105.
|
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.
|