| Year |
Citation |
Score |
| 2020 |
Jarvis S, Birsa N, Secrier M, Fratta P, Plagnol V. A Comparison of Low Read Depth QuantSeq 3' Sequencing to Total RNA-Seq in FUS Mutant Mice. Frontiers in Genetics. 11: 562445. PMID 33329699 DOI: 10.3389/fgene.2020.562445 |
0.579 |
|
| 2020 |
Humphrey J, Birsa N, Milioto C, McLaughlin M, Ule AM, Robaldo D, Eberle AB, Kräuchi R, Bentham M, Brown AL, Jarvis S, Bodo C, Garone MG, Devoy A, Soraru G, ... ... Plagnol V, et al. FUS ALS-causative mutations impair FUS autoregulation and splicing factor networks through intron retention. Nucleic Acids Research. PMID 32479602 DOI: 10.1093/Nar/Gkaa410 |
0.788 |
|
| 2020 |
Papapietro O, Chandra A, Eletto D, Inglott S, Plagnol V, Curtis J, Maes M, Alisaac A, Albuquerque AS, Basseres E, Hermine O, Picard C, Fischer A, Durandy A, Kracker S, et al. Topoisomerase 2β mutation impairs early B cell development. Blood. PMID 32128574 DOI: 10.1182/Blood.2019003299 |
0.31 |
|
| 2019 |
Göös H, Fogarty CL, Sahu B, Plagnol V, Rajamäki K, Nurmi K, Liu X, Einarsdottir E, Jouppila A, Pettersson T, Vihinen H, Krjutskov K, Saavalainen P, Järvinen A, Muurinen M, et al. Gain-of-function CEBPE mutation causes non-canonical autoinflammatory inflammasomopathy. The Journal of Allergy and Clinical Immunology. PMID 31201888 DOI: 10.1016/J.Jaci.2019.06.003 |
0.349 |
|
| 2018 |
Neves JF, Doffinger R, Barcena-Morales G, Martins C, Papapietro O, Plagnol V, Curtis J, Martins M, Kumararatne D, Cordeiro AI, Neves C, Borrego LM, Katan M, Nejentsev S. Novel Mutation in a Patient With APLAID and Cutis Laxa. Frontiers in Immunology. 9: 2863. PMID 30619256 DOI: 10.3389/Fimmu.2018.02863 |
0.343 |
|
| 2018 |
Sivakumar P, De Giorgio F, Ule AM, Neeves J, Nair RR, Bentham M, Birsa N, Humphrey J, Plagnol V, Acevedo-Arozena A, Cunningham TJ, Fisher EMC, Fratta P. TDP-43 mutations increase HNRNP A1-7B through gain of splicing function. Brain : a Journal of Neurology. PMID 30364928 DOI: 10.1093/brain/awy260 |
0.738 |
|
| 2018 |
Cuchet-Lourenço D, Eletto D, Wu C, Plagnol V, Papapietro O, Curtis J, Ceron-Gutierrez L, Bacon CM, Hackett S, Alsaleem B, Maes M, Gaspar M, Alisaac A, Goss E, AlIdrissi E, et al. Biallelic mutations in humans cause severe immunodeficiency, arthritis, and intestinal inflammation. Science (New York, N.Y.). PMID 30026316 DOI: 10.1126/Science.Aar2641 |
0.344 |
|
| 2018 |
Rivas MA, Avila BE, Koskela J, Huang H, Stevens C, Pirinen M, Haritunians T, Neale BM, Kurki M, Ganna A, Graham D, Glaser B, Peter I, Atzmon G, Barzilai N, ... ... Plagnol V, et al. Insights into the genetic epidemiology of Crohn's and rare diseases in the Ashkenazi Jewish population. Plos Genetics. 14: e1007329. PMID 29795570 DOI: 10.1371/Journal.Pgen.1007329 |
0.345 |
|
| 2018 |
Fratta P, Sivakumar P, Humphrey J, Lo K, Ricketts T, Oliveira H, Brito-Armas JM, Kalmar B, Ule A, Yu Y, Birsa N, Bodo C, Collins T, Conicella AE, Mejia Maza A, ... ... Plagnol V, et al. Mice with endogenous TDP-43 mutations exhibit gain of splicing function and characteristics of amyotrophic lateral sclerosis. The Embo Journal. PMID 29764981 DOI: 10.15252/Embj.201798684 |
0.788 |
|
| 2018 |
Bochukova EG, Lawler K, Croizier S, Keogh JM, Patel N, Strohbehn G, Lo KK, Humphrey J, Hokken-Koelega A, Damen L, Donze S, Bouret SG, Plagnol V, Farooqi IS. A Transcriptomic Signature of the Hypothalamic Response to Fasting and BDNF Deficiency in Prader-Willi Syndrome. Cell Reports. 22: 3401-3408. PMID 29590610 DOI: 10.1016/J.Celrep.2018.03.018 |
0.687 |
|
| 2018 |
Gale D, Lawson ARJ, Howarth K, Madi M, Durham B, Smalley S, Calaway J, Blais S, Jones G, Clark J, Dimitrov P, Pugh M, Woodhouse S, Epstein M, Fernandez-Gonzalez A, ... ... Plagnol V, et al. 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: e0194630. PMID 29547634 DOI: 10.1371/Journal.Pone.0194630 |
0.318 |
|
| 2018 |
Plagnol V, Woodhouse S, Howarth K, Lensing S, Smith M, Epstein M, Madi M, Smalley S, Leroy C, Hinton J, de Kievit F, Musgrave-Brown E, Herd C, Baker-Neblett K, Brennan W, et al. Analytical validation of a next generation sequencing liquid biopsy assay for high sensitivity broad molecular profiling. Plos One. 13: e0193802. PMID 29543828 DOI: 10.1371/Journal.Pone.0193802 |
0.337 |
|
| 2018 |
Mezquita L, Jovelet C, Lacroix L, Planchard D, Recondo G, Pailler E, Auclin E, Plagnol V, Howarth K, Morris CD, Green E, Rouleau E, Nicotra C, Caramella C, Adam J, et al. An amplicon-based liquid biopsy for detecting ALK and ROS1 fusions and resistance mutations in advanced non-small cell lung cancer (NSCLC) patients. Journal of Clinical Oncology. 36: 9095-9095. DOI: 10.1200/Jco.2018.36.15_Suppl.9095 |
0.321 |
|
| 2018 |
Woodhouse S, Plagnol V, Howarth K, Lensing S, Smith M, Epstein M, Madi M, Smalley S, Leroy C, Hinton J, Kievit Fd, Musgrave-Brown E, Herd C, Baker-Neblett K, Brennan W, et al. Abstract 939: Analytical validation of InVisionFirst™, a liquid biopsy assay for high-sensitivity broad molecular profiling of circulating tumor DNA using plasma samples of cancer patients Cancer Research. 78: 939-939. DOI: 10.1158/1538-7445.Am2018-939 |
0.32 |
|
| 2018 |
Mezquita L, Swalduz A, Jovelet C, Ortiz-Cuaran S, Planchard D, Avrillon V, Recondo G, Marteau S, Plagnol V, Howarth K, Morris C, Green E, Lacroix L, Odier L, Rouleau E, et al. P1.01-67 Clinical Relevance of ALK/ROS1 Resistance Mutations and Other Acquired Mutations Detected by Liquid Biopsy in Advanced NSCLC Patients Journal of Thoracic Oncology. 13. DOI: 10.1016/J.Jtho.2018.08.623 |
0.349 |
|
| 2017 |
Berry V, Pontikos N, Moore A, Ionides ACW, Plagnol V, Cheetham ME, Michaelides M. A novel missense mutation in HSF4 causes autosomal-dominant congenital lamellar cataract in a British family. Eye (London, England). PMID 29243736 DOI: 10.1038/Eye.2017.268 |
0.404 |
|
| 2017 |
Devoy A, Kalmar B, Stewart M, Park H, Burke B, Noy SJ, Redhead Y, Humphrey J, Lo K, Jaeger J, Mejia Maza A, Sivakumar P, Bertolin C, Soraru G, Plagnol V, et al. Humanized mutant FUS drives progressive motor neuron degeneration without aggregation in 'FUSDelta14' knockin mice. Brain : a Journal of Neurology. PMID 29053787 DOI: 10.1093/Brain/Awx248 |
0.769 |
|
| 2017 |
Berry V, Pontikos N, Albarca-Aguilera M, Plagnol V, Massouras A, Prescott D, Moore AT, Arno G, Cheetham ME, Michaelides M. A recurrent splice-site mutation in EPHA2 causing congenital posterior nuclear cataract. Ophthalmic Genetics. 1-6. PMID 29039721 DOI: 10.1080/13816810.2017.1381977 |
0.36 |
|
| 2017 |
Fiorentino A, Fujinami K, Arno G, Robson AG, Pontikos N, Arasanz Armengol M, Plagnol V, Hayashi T, Iwata T, Parker M, Fowler T, Rendon A, Gardner JC, Henderson RH, Cheetham ME, et al. Missense variants in the X-linked gene PRPS1 cause retinal degeneration in females. Human Mutation. PMID 28967191 DOI: 10.1002/Humu.23349 |
0.336 |
|
| 2017 |
Humphrey J, Emmett W, Fratta P, Isaacs AM, Plagnol V. Quantitative analysis of cryptic splicing associated with TDP-43 depletion. Bmc Medical Genomics. 10: 38. PMID 28549443 DOI: 10.1186/S12920-017-0274-1 |
0.762 |
|
| 2017 |
Mizielinska S, Ridler CE, Balendra R, Thoeng A, Woodling NS, Grässer FA, Plagnol V, Lashley T, Partridge L, Isaacs AM. Bidirectional nucleolar dysfunction in C9orf72 frontotemporal lobar degeneration. Acta Neuropathologica Communications. 5: 29. PMID 28420437 DOI: 10.1186/S40478-017-0432-X |
0.631 |
|
| 2017 |
Pontikos N, Yu J, Moghul I, Withington L, Blanco-Kelly F, Vulliamy T, Wong TL, Murphy C, Cipriani V, Fiorentino A, Arno G, Greene D, Jacobsen JO, Clark T, Gregory DS, ... ... Plagnol V, et al. Phenopolis: an open platform for harmonization and analysis of genetic and phenotypic data. Bioinformatics (Oxford, England). PMID 28334266 DOI: 10.1093/Bioinformatics/Btx147 |
0.331 |
|
| 2017 |
Hensman Moss DJ, Flower MD, Lo KK, Miller JR, van Ommen GB, 't Hoen PA, Stone TC, Guinee A, Langbehn DR, Jones L, Plagnol V, van Roon-Mom WM, Holmans P, Tabrizi SJ. Huntington's disease blood and brain show a common gene expression pattern and share an immune signature with Alzheimer's disease. Scientific Reports. 7: 44849. PMID 28322270 DOI: 10.1038/Srep44849 |
0.336 |
|
| 2017 |
Xu M, Xie YA, Abouzeid H, Gordon CT, Fiorentino A, Sun Z, Lehman A, Osman IS, Dharmat R, Riveiro-Alvarez R, Bapst-Wicht L, Babino D, Arno G, Busetto V, Zhao L, ... ... Plagnol V, et al. Mutations in the Spliceosome Component CWC27 Cause Retinal Degeneration with or without Additional Developmental Anomalies. American Journal of Human Genetics. PMID 28285769 DOI: 10.1016/J.Ajhg.2017.02.008 |
0.409 |
|
| 2017 |
Cheong SS, Hull S, Jones B, Chana R, Thornton N, Plagnol V, Moore AT, Hardcastle AJ. Pleiotropic effect of a novel mutation in GCNT2 causing congenital cataract and a rare adult i blood group phenotype. Human Genome Variation. 4: 17004. PMID 28224043 DOI: 10.1038/Hgv.2017.4 |
0.374 |
|
| 2017 |
Soderquest K, Hertweck A, Giambartolomei C, Henderson S, Mohamed R, Goldberg R, Perucha E, Franke L, Herrero J, Plagnol V, Jenner RG, Lord GM. Genetic variants alter T-bet binding and gene expression in mucosal inflammatory disease. Plos Genetics. 13: e1006587. PMID 28187197 DOI: 10.1371/Journal.Pgen.1006587 |
0.327 |
|
| 2017 |
Arno G, Carss KJ, Hull S, Zihni C, Robson AG, Fiorentino A, Hardcastle AJ, Holder GE, Cheetham ME, Plagnol V, Moore AT, Raymond FL, Matter K, et al. Biallelic Mutation of ARHGEF18, Involved in the Determination of Epithelial Apicobasal Polarity, Causes Adult-Onset Retinal Degeneration. American Journal of Human Genetics. PMID 28132693 DOI: 10.1016/J.Ajhg.2016.12.014 |
0.417 |
|
| 2017 |
Guibert NM, Paweletz C, Hu Y, Feeney NB, Plagnol V, Poole V, Jones G, Oxnard GR. Early detection of competing resistance mutations using plasma next-generation sequencing (NGS) in patients (pts) with EGFR-mutant NSCLC treated with osimertinib. Journal of Clinical Oncology. 35: 11529-11529. DOI: 10.1200/Jco.2017.35.15_Suppl.11529 |
0.316 |
|
| 2017 |
Sivakumar P, Humphrey J, Ule A, Bodo C, Emmett W, Ricketts T, Oliveira H, Wang E, Housman D, Greensmith L, Buratti E, Baralle F, Plagnol V, Acevedo-Arozena A, Fisher E, et al. Investigating dysfunctional RNA processing in TDP-43 mouse mutants Neuromuscular Disorders. 27: S32. DOI: 10.1016/S0960-8966(17)30314-0 |
0.301 |
|
| 2017 |
Sergouniotis PI, Robson AG, El-Asrag ME, Ali M, Holder GE, Black GC, Webster AR, Plagnol V. Use of a gene-based case-control association approach in exome sequencing data to elucidate the molecular basis of a mendelian phenotype The Lancet. 389: 14-14. DOI: 10.1016/S0140-6736(17)30410-5 |
0.409 |
|
| 2016 |
Carss KJ, Arno G, Erwood M, Stephens J, Sanchis-Juan A, Hull S, Megy K, Grozeva D, Dewhurst E, Malka S, Plagnol V, Penkett C, Stirrups K, Rizzo R, Wright G, et al. Comprehensive Rare Variant Analysis via Whole-Genome Sequencing to Determine the Molecular Pathology of Inherited Retinal Disease. American Journal of Human Genetics. PMID 28041643 DOI: 10.1016/J.Ajhg.2016.12.003 |
0.362 |
|
| 2016 |
Eletto D, Burns SO, Angulo I, Plagnol V, Gilmour KC, Henriquez F, Curtis J, Gaspar M, Nowak K, Daza-Cajigal V, Kumararatne D, Doffinger R, Thrasher AJ, Nejentsev S. Biallelic JAK1 mutations in immunodeficient patient with mycobacterial infection. Nature Communications. 7: 13992. PMID 28008925 DOI: 10.1038/Ncomms13992 |
0.376 |
|
| 2016 |
Arno G, Agrawal SA, Eblimit A, Bellingham J, Xu M, Wang F, Chakarova C, Parfitt DA, Lane A, Burgoyne T, Hull S, Carss KJ, Fiorentino A, Hayes MJ, Munro PM, ... ... Plagnol V, et al. Mutations in REEP6 Cause Autosomal-Recessive Retinitis Pigmentosa. American Journal of Human Genetics. PMID 27889058 DOI: 10.1016/J.Ajhg.2016.10.008 |
0.301 |
|
| 2016 |
Cheong SS, Hentschel L, Davidson AE, Gerrelli D, Davie R, Rizzo R, Pontikos N, Plagnol V, Moore AT, Sowden JC, Michaelides M, Snead M, Tuft SJ, Hardcastle AJ. Mutations in CPAMD8 Cause a Unique Form of Autosomal-Recessive Anterior Segment Dysgenesis. American Journal of Human Genetics. PMID 27839872 DOI: 10.1016/J.Ajhg.2016.09.022 |
0.392 |
|
| 2016 |
Pigors M, Sarig O, Heinz L, Plagnol V, Fischer J, Mohamad J, Malchin N, Rajpopat S, Kharfi M, Lestringant GG, Sprecher E, Kelsell DP, Blaydon DC. Loss-of-Function Mutations in SERPINB8 Linked to Exfoliative Ichthyosis with Impaired Mechanical Stability of Intercellular Adhesions. American Journal of Human Genetics. PMID 27476651 DOI: 10.1016/J.Ajhg.2016.06.004 |
0.416 |
|
| 2016 |
Hull S, Malik AN, Arno G, Mackay DS, Plagnol V, Michaelides M, Mansour S, Albanese A, Brown KT, Holder GE, Webster AR, Heath PT, Moore AT. Expanding the Phenotype of TRNT1-Related Immunodeficiency to Include Childhood Cataract and Inner Retinal Dysfunction. Jama Ophthalmology. PMID 27389523 DOI: 10.1001/Jamaophthalmol.2015.5833 |
0.344 |
|
| 2016 |
Wedatilake Y, Niazi R, Fassone E, Powell CA, Pearce S, Plagnol V, Saldanha JW, Kleta R, Chong WK, Footitt E, Mills PB, Taanman JW, Minczuk M, Clayton PT, Rahman S. TRNT1 deficiency: clinical, biochemical and molecular genetic features. Orphanet Journal of Rare Diseases. 11: 90. PMID 27370603 DOI: 10.1186/S13023-016-0477-0 |
0.303 |
|
| 2016 |
Tummala H, Walne AJ, Williams M, Bockett N, Collopy L, Cardoso S, Ellison A, Wynn R, Leblanc T, Fitzgibbon J, Kelsell DP, van Heel DA, Payne E, Plagnol V, Dokal I, et al. DNAJC21 Mutations Link a Cancer-Prone Bone Marrow Failure Syndrome to Corruption in 60S Ribosome Subunit Maturation. American Journal of Human Genetics. PMID 27346687 DOI: 10.1016/J.Ajhg.2016.05.002 |
0.39 |
|
| 2016 |
Arno G, Holder GE, Chakarova C, Kohl S, Pontikos N, Fiorentino A, Plagnol V, Cheetham ME, Hardcastle AJ, Webster AR, Michaelides M. Recessive Retinopathy Consequent on Mutant G-Protein β Subunit 3 (GNB3). Jama Ophthalmology. PMID 27281386 DOI: 10.1001/Jamaophthalmol.2016.1543 |
0.333 |
|
| 2016 |
Miller JR, Lo KK, Andre R, Moss DJ, Träger U, Stone TC, Jones L, Holmans P, Plagnol V, Tabrizi SJ. RNA-Seq of Huntington's Disease Patient Myeloid Cells Reveals Innate Transcriptional Dysregulation Associated With Proinflammatory Pathway Activation. Human Molecular Genetics. PMID 27170315 DOI: 10.1093/Hmg/Ddw142 |
0.367 |
|
| 2016 |
Hull S, Owen N, Islam F, Tracey-White D, Plagnol V, Holder GE, Michaelides M, Carss K, Raymond FL, Rozet JM, Ramsden SC, Black GC, Perrault I, Sarkar A, Moosajee M, et al. Nonsyndromic Retinal Dystrophy due to Bi-Allelic Mutations in the Ciliary Transport Gene IFT140. Investigative Ophthalmology & Visual Science. 57: 1053-1062. PMID 26968735 DOI: 10.1167/Iovs.15-17976 |
0.428 |
|
| 2016 |
Gale D, Plagnol V, Lawson A, Pugh M, Smalley S, Howarth K, Madi M, Durham B, Kumanduri V, Lo K, Clark J, Green E, Rosenfeld N, Forshew T. Abstract 3639: Analytical performance and validation of an enhanced TAm-Seq circulating tumor DNA sequencing assay Cancer Research. 76: 3639-3639. DOI: 10.1158/1538-7445.Am2016-3639 |
0.302 |
|
| 2016 |
Remon J, Soria JC, Planchard D, Jovelet C, Pannet C, Lacroix L, Gazzah A, Lawson A, Smalley S, Howarth K, Gale D, Green E, Plagnol V, Rosenfeld N, Oulassen K, et al. Abstract 3192: Liquid biopsies for molecular profiling of mutations in non-small cell lung cancer patients lacking tissue samples Cancer Research. 76: 3192-3192. DOI: 10.1158/1538-7445.Am2016-3192 |
0.387 |
|
| 2016 |
Moss DH, Pardiñas A, Flower M, Miller J, Lo K, Plagnol V, Holmans P, Jones L, Langbehn D, Tabrizi S. GENETIC MODIFIERS OF HUNTINGTON'S DISEASE PROGRESSION Journal of Neurology, Neurosurgery & Psychiatry. 87: e1.35-e1. DOI: 10.1136/Jnnp-2016-315106.13 |
0.364 |
|
| 2016 |
Flower M, Moss DH, Lo KK, Miller J, Omen Gv, ’t Hoen PA, Stone T, Guinee A, Langbehn D, Jones L, Plagnol V, van Roon-Mom WM, Holmans P, Tabrizi SJ. B17 Blood transcriptome replicates dysregulation found in human huntington’s disease brain and shares an immune signature with alzheimer’s disease Journal of Neurology, Neurosurgery & Psychiatry. 87: A15.1-A15. DOI: 10.1136/Jnnp-2016-314597.48 |
0.332 |
|
| 2016 |
Andre R, Miller JR, Lo KK, Hensman Moss DJ, Träger U, Stone TC, McErlean P, Jones L, Holmans P, Lavender P, Plagnol V, Tabrizi SJ. B15 Innate transcriptional dysregulation is associated with proinflammatory pathway activation in huntington’s disease myeloid cells Journal of Neurology, Neurosurgery & Psychiatry. 87: A14.1-A14. DOI: 10.1136/Jnnp-2016-314597.46 |
0.366 |
|
| 2016 |
Hull S, Arno G, Owen N, Plagnol V, Robson A, Michaelides M, Holder G, Webster A, Moore A. Whole-exome sequencing in the investigation of retinal dystrophy The Lancet. 387. DOI: 10.1016/S0140-6736(16)00439-6 |
0.35 |
|
| 2015 |
Oldoni F, Palmen J, Giambartolomei C, Howard P, Drenos F, Plagnol V, Humphries SE, Talmud PJ, Smith AJ. Post-GWAS methodologies for localisation of functional non-coding variants: ANGPTL3. Atherosclerosis. 246: 193-201. PMID 26800306 DOI: 10.1016/J.Atherosclerosis.2015.12.009 |
0.35 |
|
| 2015 |
Davidson AE, Liskova P, Evans CJ, Dudakova L, Nosková L, Pontikos N, Hartmannová H, Hodaňová K, Stránecký V, Kozmík Z, Levis HJ, Idigo N, Sasai N, Maher GJ, Bellingham J, ... ... Plagnol V, et al. 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. PMID 26749309 DOI: 10.1016/J.Ajhg.2015.11.018 |
0.409 |
|
| 2015 |
Sergouniotis PI, McKibbin M, Robson AG, Bolz HJ, De Baere E, Müller PL, Heller R, El-Asrag ME, Van Schil K, Plagnol V, Toomes C, Consortium UI, Ali M, Holder GE, Charbel Issa P, et al. Disease Expression in Autosomal Recessive Retinal Dystrophy Associated With Mutations in the DRAM2 Gene. Investigative Ophthalmology & Visual Science. 56: 8083-90. PMID 26720460 DOI: 10.1167/Iovs.15-17604 |
0.319 |
|
| 2015 |
Ekong R, Nellist M, Hoogeveen-Westerveld M, Wentink M, Panzer J, Sparagana S, Emmett W, Dawson NL, Malinge MC, Nabbout R, Carbonara C, Barberis M, Padovan S, Futema M, Plagnol V, et al. Variants Within TSC2 Exons 25 and 31 are Very Unlikely to Cause Clinically Diagnosable Tuberous Sclerosis. Human Mutation. PMID 26703369 DOI: 10.1002/Humu.22951 |
0.398 |
|
| 2015 |
Joyce PI, Fratta P, Landman AS, McGoldrick P, Wackerhage H, Groves M, Busam BS, Galino J, Corrochano S, Beskina OA, Esapa C, Ryder E, Carter S, Stewart M, Codner G, ... ... Plagnol V, et al. Deficiency of the zinc finger protein ZFP106 causes motor and sensory neurodegeneration. Human Molecular Genetics. PMID 26604141 DOI: 10.1093/Hmg/Ddv471 |
0.59 |
|
| 2015 |
Chandra A, Zhang F, Gilmour KC, Webster D, Plagnol V, Kumararatne DS, Burns SO, Nejentsev S, Thrasher AJ. Common variable immunodeficiency and natural killer cell lymphopenia caused by Ets-binding site mutation in the IL-2 receptor γ (IL2RG) gene promoter. The Journal of Allergy and Clinical Immunology. PMID 26525228 DOI: 10.1016/J.Jaci.2015.08.049 |
0.379 |
|
| 2015 |
Liskova P, Evans CJ, Davidson AE, Zaliova M, Dudakova L, Trkova M, Stranecky V, Carnt N, Plagnol V, Vincent AL, Tuft SJ, Hardcastle AJ. Heterozygous deletions at the ZEB1 locus verify haploinsufficiency as the mechanism of disease for posterior polymorphous corneal dystrophy type 3. European Journal of Human Genetics : Ejhg. PMID 26508574 DOI: 10.1038/Ejhg.2015.232 |
0.41 |
|
| 2015 |
Leu C, Balestrini S, Maher B, Hernández-Hernández L, Gormley P, Hämäläinen E, Heggeli K, Schoeler N, Novy J, Willis J, Plagnol V, Ellis R, Reavey E, O'Regan M, Pickrell WO, et al. Genome-wide Polygenic Burden of Rare Deleterious Variants in Sudden Unexpected Death in Epilepsy. Ebiomedicine. 2: 1063-70. PMID 26501104 DOI: 10.1016/J.Ebiom.2015.07.005 |
0.329 |
|
| 2015 |
Nunn LM, Lopes LR, Syrris P, Murphy C, Plagnol V, Firman E, Dalageorgou C, Zorio E, Domingo D, Murday V, Findlay I, Duncan A, Carr-White G, Robert L, Bueser T, et al. Diagnostic yield of molecular autopsy in patients with sudden arrhythmic death syndrome using targeted exome sequencing. Europace : European Pacing, Arrhythmias, and Cardiac Electrophysiology : Journal of the Working Groups On Cardiac Pacing, Arrhythmias, and Cardiac Cellular Electrophysiology of the European Society of Cardiology. PMID 26498160 DOI: 10.1093/Europace/Euv285 |
0.373 |
|
| 2015 |
Lopes LR, Murphy C, Syrris P, Dalageorgou C, McKenna WJ, Elliott PM, Plagnol V. Use of high-throughput targeted exome-sequencing to screen for copy number variation in hypertrophic cardiomyopathy. European Journal of Medical Genetics. PMID 26455666 DOI: 10.1016/J.Ejmg.2015.10.001 |
0.339 |
|
| 2015 |
Walter K, Min JL, Huang J, Crooks L, Memari Y, McCarthy S, Perry JR, Xu C, Futema M, Lawson D, Iotchkova V, Schiffels S, Hendricks AE, Danecek P, ... ... Plagnol V, et al. The UK10K project identifies rare variants in health and disease. Nature. 526: 82-90. PMID 26367797 DOI: 10.1038/Nature14962 |
0.346 |
|
| 2015 |
Abdelkarim S, Morgan S, Plagnol V, Lu CH, Adamson G, Howard R, Malaspina A, Orrell R, Sharma N, Sidle K, Clarke J, Fox NC, Rossor MN, Warren JD, Clark CN, et al. CHCHD10 Pro34Ser is not a highly penetrant pathogenic variant for amyotrophic lateral sclerosis and frontotemporal dementia. Brain : a Journal of Neurology. PMID 26362910 DOI: 10.1093/Brain/Awv223 |
0.588 |
|
| 2015 |
Record J, Malinova D, Zenner HL, Plagnol V, Nowak K, Syed F, Bouma G, Curtis J, Gilmour K, Cale C, Hackett S, Charras G, Moulding D, Nejentsev S, Thrasher AJ, et al. Immunodeficiency and severe susceptibility to bacterial infection associated with a loss-of-function homozygous mutation of MKL1. Blood. PMID 26224645 DOI: 10.1182/Blood-2014-12-611012 |
0.335 |
|
| 2015 |
Shahni R, Cale CM, Anderson G, Osellame LD, Hambleton S, Jacques TS, Wedatilake Y, Taanman JW, Chan E, Qasim W, Plagnol V, Chalasani A, Duchen MR, Gilmour KC, Rahman S. Signal transducer and activator of transcription 2 deficiency is a novel disorder of mitochondrial fission. Brain : a Journal of Neurology. PMID 26122121 DOI: 10.1093/Brain/Awv182 |
0.308 |
|
| 2015 |
El-Asrag ME, Sergouniotis PI, McKibbin M, Plagnol V, Sheridan E, Waseem N, Abdelhamed Z, McKeefry D, Van Schil K, Poulter JA, Johnson CA, Carr IM, Leroy BP, De Baere E, et al. Biallelic Mutations in the Autophagy Regulator DRAM2 Cause Retinal Dystrophy with Early Macular Involvement. American Journal of Human Genetics. 96: 948-54. PMID 25983245 DOI: 10.1016/J.Ajhg.2015.04.006 |
0.377 |
|
| 2015 |
Mencacci NE, Rubio-Agusti I, Zdebik A, Asmus F, Ludtmann MH, Ryten M, Plagnol V, Hauser AK, Bandres-Ciga S, Bettencourt C, Forabosco P, Hughes D, Soutar MM, Peall K, Morris HR, et al. A Missense Mutation in KCTD17 Causes Autosomal Dominant Myoclonus-Dystonia. American Journal of Human Genetics. 96: 938-47. PMID 25983243 DOI: 10.1016/J.Ajhg.2015.04.008 |
0.396 |
|
| 2015 |
Tummala H, Walne A, Collopy L, Cardoso S, de la Fuente J, Lawson S, Powell J, Cooper N, Foster A, Mohammed S, Plagnol V, Vulliamy T, Dokal I. Poly(A)-specific ribonuclease deficiency impacts telomere biology and causes dyskeratosis congenita. The Journal of Clinical Investigation. 125: 2151-60. PMID 25893599 DOI: 10.1172/Jci78963 |
0.425 |
|
| 2015 |
AlFawaz S, Plagnol V, Wong FS, Kelsell DP. A novel frameshift MSX1 mutation in a Saudi family with autosomal dominant premolar and third molar agenesis. Archives of Oral Biology. 60: 982-8. PMID 25874811 DOI: 10.1016/J.Archoralbio.2015.02.023 |
0.375 |
|
| 2015 |
Scheidecker S, Etard C, Haren L, Stoetzel C, Hull S, Arno G, Plagnol V, Drunat S, Passemard S, Toutain A, Obringer C, Koob M, Geoffroy V, Marion V, Strähle U, et al. Mutations in TUBGCP4 alter microtubule organization via the γ-tubulin ring complex in autosomal-recessive microcephaly with chorioretinopathy. American Journal of Human Genetics. 96: 666-74. PMID 25817018 DOI: 10.1016/J.Ajhg.2015.02.011 |
0.391 |
|
| 2015 |
Arno G, Hull S, Robson AG, Holder GE, Cheetham ME, Webster AR, Plagnol V, Moore AT. Lack of Interphotoreceptor Retinoid Binding Protein Caused by Homozygous Mutation of RBP3 Is Associated With High Myopia and Retinal Dystrophy. Investigative Ophthalmology & Visual Science. 56: 2358-65. PMID 25766589 DOI: 10.1167/Iovs.15-16520 |
0.389 |
|
| 2015 |
Lin Z, Zhao J, Nitoiu D, Scott CA, Plagnol V, Smith FJ, Wilson NJ, Cole C, Schwartz ME, McLean WH, Wang H, Feng C, Duo L, Zhou EY, Ren Y, et al. Loss-of-function mutations in CAST cause peeling skin, leukonychia, acral punctate keratoses, cheilitis, and knuckle pads. American Journal of Human Genetics. 96: 440-7. PMID 25683118 DOI: 10.1016/J.Ajhg.2014.12.026 |
0.375 |
|
| 2015 |
Mistry V, Bockett NA, Levine AP, Mirza MM, Hunt KA, Ciclitira PJ, Hummerich H, Neuhausen SL, Simpson MA, Plagnol V, van Heel DA. Exome sequencing of 75 individuals from multiply affected coeliac families and large scale resequencing follow up. Plos One. 10: e0116845. PMID 25635822 DOI: 10.1371/Journal.Pone.0116845 |
0.411 |
|
| 2015 |
Kanabus M, Shahni R, Saldanha JW, Murphy E, Plagnol V, Hoff WV, Heales S, Rahman S. Bi-allelic CLPB mutations cause cataract, renal cysts, nephrocalcinosis and 3-methylglutaconic aciduria, a novel disorder of mitochondrial protein disaggregation. Journal of Inherited Metabolic Disease. 38: 211-9. PMID 25595726 DOI: 10.1007/S10545-015-9813-0 |
0.372 |
|
| 2015 |
Davidson AE, Borasio E, Liskova P, Khan AO, Hassan H, Cheetham ME, Plagnol V, Alkuraya FS, Tuft SJ, Hardcastle AJ. Brittle cornea syndrome ZNF469 mutation carrier phenotype and segregation analysis of rare ZNF469 variants in familial keratoconus. Investigative Ophthalmology & Visual Science. 56: 578-86. PMID 25564447 DOI: 10.1167/Iovs.14-15792 |
0.435 |
|
| 2015 |
Hull S, Arno G, Plagnol V, Robson A, Webster AR, Moore AT. Exome sequencing reveals ADAM9 mutations in a child with cone-rod dystrophy. Acta Ophthalmologica. 93: e392-3. PMID 25546566 DOI: 10.1111/Aos.12592 |
0.354 |
|
| 2015 |
Bland PJ, Chronnell C, Plagnol V, Kayserili H, Kelsell DP. A severe collodion phenotype in the newborn period associated with a homozygous missense mutation in ALOX12B. The British Journal of Dermatology. 173: 285-7. PMID 25524567 DOI: 10.1111/Bjd.13627 |
0.391 |
|
| 2015 |
Nalls MA, Bras J, Hernandez DG, Keller MF, Majounie E, Renton AE, Saad M, Jansen I, Guerreiro R, Lubbe S, Plagnol V, Gibbs JR, Schulte C, Pankratz N, Sutherland M, et al. NeuroX, a fast and efficient genotyping platform for investigation of neurodegenerative diseases. Neurobiology of Aging. 36: 1605.e7-12. PMID 25444595 DOI: 10.1016/J.Neurobiolaging.2014.07.028 |
0.373 |
|
| 2015 |
Cooper NJ, Shtir CJ, Smyth DJ, Guo H, Swafford AD, Zanda M, Hurles ME, Walker NM, Plagnol V, Cooper JD, Howson JM, Burren OS, Onengut-Gumuscu S, Rich SS, Todd JA. Detection and correction of artefacts in estimation of rare copy number variants and analysis of rare deletions in type 1 diabetes. Human Molecular Genetics. 24: 1774-90. PMID 25424174 DOI: 10.1093/Hmg/Ddu581 |
0.32 |
|
| 2015 |
Wedatilake Y, Plagnol V, Anderson G, Paine SM, Clayton PT, Jacques TS, Rahman S. Tubular aggregates caused by serine active site containing 1 (SERAC1) mutations in a patient with a mitochondrial encephalopathy. Neuropathology and Applied Neurobiology. 41: 399-402. PMID 25345337 DOI: 10.1111/Nan.12190 |
0.362 |
|
| 2015 |
Haas J, Frese KS, Peil B, Kloos W, Keller A, Nietsch R, Feng Z, Müller S, Kayvanpour E, Vogel B, Sedaghat-Hamedani F, Lim WK, Zhao X, Fradkin D, Köhler D, ... ... Plagnol V, et al. Atlas of the clinical genetics of human dilated cardiomyopathy. European Heart Journal. 36: 1123-35a. PMID 25163546 DOI: 10.1093/Eurheartj/Ehu301 |
0.445 |
|
| 2015 |
Smalley SK, Gale D, Lawson AR, Remon-Masip J, Perez E, Pugh M, Howarth K, Touat M, Soria J, Hollebecque A, Besse B, Forshew T, Plagnol V, Lacroix L, Rosenfeld N. Abstract B7: Assessing the clinical applications of ctDNA in patients with advanced stage metastatic cancer using our enhanced TAm-Seq platform Molecular Cancer Therapeutics. 14. DOI: 10.1158/1535-7163.Targ-15-B7 |
0.386 |
|
| 2014 |
Hull S, Arno G, Plagnol V, Chamney S, Russell-Eggitt I, Thompson D, Ramsden SC, Black GC, Robson A, Holder GE, Moore AT, Webster AR. The phenotypic variability of retinal dystrophies associated with mutations in CRX, with report of a novel macular dystrophy phenotype. Investigative Ophthalmology & Visual Science. 55: 6934-44. PMID 25270190 DOI: 10.1167/Iovs.14-14715 |
0.412 |
|
| 2014 |
Davidson AE, Cheong SS, Hysi PG, Venturini C, Plagnol V, Ruddle JB, Ali H, Carnt N, Gardner JC, Hassan H, Gade E, Kearns L, Jelsig AM, Restori M, Webb TR, et al. Association of CHRDL1 mutations and variants with X-linked megalocornea, Neuhäuser syndrome and central corneal thickness. Plos One. 9: e104163. PMID 25093588 DOI: 10.1371/Journal.Pone.0104163 |
0.365 |
|
| 2014 |
Mencacci NE, Isaias IU, Reich MM, Ganos C, Plagnol V, Polke JM, Bras J, Hersheson J, Stamelou M, Pittman AM, Noyce AJ, Mok KY, Opladen T, Kunstmann E, Hodecker S, et al. Parkinson's disease in GTP cyclohydrolase 1 mutation carriers. Brain : a Journal of Neurology. 137: 2480-92. PMID 24993959 DOI: 10.1093/Brain/Awu179 |
0.355 |
|
| 2014 |
Futema M, Plagnol V, Li K, Whittall RA, Neil HA, Seed M, Bertolini S, Calandra S, Descamps OS, Graham CA, Hegele RA, Karpe F, Durst R, Leitersdorf E, et al. Whole exome sequencing of familial hypercholesterolaemia patients negative for LDLR/APOB/PCSK9 mutations. Journal of Medical Genetics. 51: 537-44. PMID 24987033 DOI: 10.1136/Jmedgenet-2014-102405 |
0.426 |
|
| 2014 |
Zanda M, Onengut-Gumuscu S, Walker N, Shtir C, Gallo D, Wallace C, Smyth D, Todd JA, Hurles ME, Plagnol V, Rich SS. A genome-wide assessment of the role of untagged copy number variants in type 1 diabetes. Plos Genetics. 10: e1004367. PMID 24875393 DOI: 10.1371/Journal.Pgen.1004367 |
0.315 |
|
| 2014 |
Giambartolomei C, Vukcevic D, Schadt EE, Franke L, Hingorani AD, Wallace C, Plagnol V. Bayesian test for colocalisation between pairs of genetic association studies using summary statistics. Plos Genetics. 10: e1004383. PMID 24830394 DOI: 10.1371/Journal.Pgen.1004383 |
0.347 |
|
| 2014 |
Sergouniotis PI, Chakarova C, Murphy C, Becker M, Lenassi E, Arno G, Lek M, MacArthur DG, Bhattacharya SS, Moore AT, Holder GE, Robson AG, Wolfrum U, Webster AR, ... Plagnol V, et al. Biallelic variants in TTLL5, encoding a tubulin glutamylase, cause retinal dystrophy. American Journal of Human Genetics. 94: 760-9. PMID 24791901 DOI: 10.1016/J.Ajhg.2014.04.003 |
0.404 |
|
| 2014 |
Burns SO, Plagnol V, Gutierrez BM, Al Zahrani D, Curtis J, Gaspar M, Hassan A, Jones AM, Malone M, Rampling D, McLatchie A, Doffinger R, Gilmour KC, Henriquez F, Thrasher AJ, et al. Immunodeficiency and disseminated mycobacterial infection associated with homozygous nonsense mutation of IKKβ. The Journal of Allergy and Clinical Immunology. 134: 215-8. PMID 24679846 DOI: 10.1016/J.Jaci.2013.12.1093 |
0.315 |
|
| 2014 |
Tummala H, Kirwan M, Walne AJ, Hossain U, Jackson N, Pondarre C, Plagnol V, Vulliamy T, Dokal I. ERCC6L2 mutations link a distinct bone-marrow-failure syndrome to DNA repair and mitochondrial function. American Journal of Human Genetics. 94: 246-56. PMID 24507776 DOI: 10.1016/J.Ajhg.2014.01.007 |
0.315 |
|
| 2014 |
Cortese A, Plagnol V, Brady S, Simone R, Lashley T, Acevedo-Arozena A, de Silva R, Greensmith L, Holton J, Hanna MG, Fisher EM, Fratta P. Widespread RNA metabolism impairment in sporadic inclusion body myositis TDP43-proteinopathy. Neurobiology of Aging. 35: 1491-8. PMID 24462217 DOI: 10.1016/J.Neurobiolaging.2013.12.029 |
0.635 |
|
| 2014 |
Borman AD, Pearce LR, Mackay DS, Nagel-Wolfrum K, Davidson AE, Henderson R, Garg S, Waseem NH, Webster AR, Plagnol V, Wolfrum U, Farooqi IS, Moore AT. A homozygous mutation in the TUB gene associated with retinal dystrophy and obesity. Human Mutation. 35: 289-93. PMID 24375934 DOI: 10.1002/Humu.22482 |
0.379 |
|
| 2014 |
Fratta P, Charnock J, Collins T, Devoy A, Howard R, Malaspina A, Orrell R, Sidle K, Clarke J, Shoai M, Lu CH, Hardy J, Plagnol V, Fisher EM. Profilin1 E117G is a moderate risk factor for amyotrophic lateral sclerosis. Journal of Neurology, Neurosurgery, and Psychiatry. 85: 506-8. PMID 24309268 DOI: 10.1136/Jnnp-2013-306761 |
0.602 |
|
| 2014 |
Liu YT, Hersheson J, Plagnol V, Fawcett K, Duberley KE, Preza E, Hargreaves IP, Chalasani A, Laurá M, Wood NW, Reilly MM, Houlden H. Autosomal-recessive cerebellar ataxia caused by a novel ADCK3 mutation that elongates the protein: clinical, genetic and biochemical characterisation. Journal of Neurology, Neurosurgery, and Psychiatry. 85: 493-8. PMID 24218524 DOI: 10.1136/Jnnp-2013-306483 |
0.431 |
|
| 2014 |
Tucci A, Liu YT, Preza E, Pitceathly RD, Chalasani A, Plagnol V, Land JM, Trabzuni D, Ryten M, Jaunmuktane Z, Reilly MM, Brandner S, Hargreaves I, Hardy J, et al. Novel C12orf65 mutations in patients with axonal neuropathy and optic atrophy. Journal of Neurology, Neurosurgery, and Psychiatry. 85: 486-92. PMID 24198383 DOI: 10.1136/Jnnp-2013-306387 |
0.417 |
|
| 2014 |
Brooke MA, Longhurst HJ, Plagnol V, Kirkby NS, Mitchell JA, Rüschendorf F, Warner TD, Kelsell DP, MacDonald TT. Cryptogenic multifocal ulcerating stenosing enteritis associated with homozygous deletion mutations in cytosolic phospholipase A2-α. Gut. 63: 96-104. PMID 23268370 DOI: 10.1136/Gutjnl-2012-303581 |
0.422 |
|
| 2013 |
Angulo I, Vadas O, Garçon F, Banham-Hall E, Plagnol V, Leahy TR, Baxendale H, Coulter T, Curtis J, Wu C, Blake-Palmer K, Perisic O, Smyth D, Maes M, Fiddler C, et al. Phosphoinositide 3-kinase δ gene mutation predisposes to respiratory infection and airway damage. Science (New York, N.Y.). 342: 866-71. PMID 24136356 DOI: 10.1126/Science.1243292 |
0.364 |
|
| 2013 |
Trabzuni D, Ryten M, Emmett W, Ramasamy A, Lackner KJ, Zeller T, Walker R, Smith C, Lewis PA, Mamais A, de Silva R, Vandrovcova J, Hernandez D, Nalls MA, ... ... Plagnol V, et al. Fine-mapping, gene expression and splicing analysis of the disease associated LRRK2 locus. Plos One. 8: e70724. PMID 23967090 DOI: 10.1371/Journal.Pone.0070724 |
0.33 |
|
| 2013 |
Tarkar A, Loges NT, Slagle CE, Francis R, Dougherty GW, Tamayo JV, Shook B, Cantino M, Schwartz D, Jahnke C, Olbrich H, Werner C, Raidt J, Pennekamp P, Abouhamed M, ... ... Plagnol V, et al. DYX1C1 is required for axonemal dynein assembly and ciliary motility. Nature Genetics. 45: 995-1003. PMID 23872636 DOI: 10.1038/Ng.2707 |
0.384 |
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| 2013 |
Davidson AE, Schwarz N, Zelinger L, Stern-Schneider G, Shoemark A, Spitzbarth B, Gross M, Laxer U, Sosna J, Sergouniotis PI, Waseem NH, Wilson R, Kahn RA, Plagnol V, Wolfrum U, et al. Mutations in ARL2BP, encoding ADP-ribosylation-factor-like 2 binding protein, cause autosomal-recessive retinitis pigmentosa. American Journal of Human Genetics. 93: 321-9. PMID 23849777 DOI: 10.1016/J.Ajhg.2013.06.003 |
0.425 |
|
| 2013 |
Blaydon DC, Lind LK, Plagnol V, Linton KJ, Smith FJ, Wilson NJ, McLean WH, Munro CS, South AP, Leigh IM, O'Toole EA, Lundström A, Kelsell DP. Mutations in AQP5, encoding a water-channel protein, cause autosomal-dominant diffuse nonepidermolytic palmoplantar keratoderma. American Journal of Human Genetics. 93: 330-5. PMID 23830519 DOI: 10.1016/J.Ajhg.2013.06.008 |
0.301 |
|
| 2013 |
Hunt KA, Mistry V, Bockett NA, Ahmad T, Ban M, Barker JN, Barrett JC, Blackburn H, Brand O, Burren O, Capon F, Compston A, Gough SC, Jostins L, Kong Y, ... ... Plagnol V, et al. Negligible impact of rare autoimmune-locus coding-region variants on missing heritability. Nature. 498: 232-5. PMID 23698362 DOI: 10.1038/Nature12170 |
0.361 |
|
| 2013 |
Thorne T, Fratta P, Hanna MG, Cortese A, Plagnol V, Fisher EM, Stumpf MP. Graphical modelling of molecular networks underlying sporadic inclusion body myositis. Molecular Biosystems. 9: 1736-42. PMID 23595110 DOI: 10.1039/C3Mb25497F |
0.592 |
|
| 2013 |
Nag A, Bochukova EG, Kremeyer B, Campbell DD, Muller H, Valencia-Duarte AV, Cardona J, Rivas IC, Mesa SC, Cuartas M, Garcia J, Bedoya G, Cornejo W, Herrera LD, Romero R, ... ... Plagnol V, et al. CNV analysis in Tourette syndrome implicates large genomic rearrangements in COL8A1 and NRXN1. Plos One. 8: e59061. PMID 23533600 DOI: 10.1371/Journal.Pone.0059061 |
0.356 |
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| 2013 |
Schmidts M, Arts HH, Bongers EM, Yap Z, Oud MM, Antony D, Duijkers L, Emes RD, Stalker J, Yntema JB, Plagnol V, Hoischen A, Gilissen C, Forsythe E, Lausch E, et al. Exome sequencing identifies DYNC2H1 mutations as a common cause of asphyxiating thoracic dystrophy (Jeune syndrome) without major polydactyly, renal or retinal involvement. Journal of Medical Genetics. 50: 309-23. PMID 23456818 DOI: 10.1136/Jmedgenet-2012-101284 |
0.448 |
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| 2013 |
Walne AJ, Vulliamy T, Kirwan M, Plagnol V, Dokal I. Constitutional mutations in RTEL1 cause severe dyskeratosis congenita. American Journal of Human Genetics. 92: 448-53. PMID 23453664 DOI: 10.1016/J.Ajhg.2013.02.001 |
0.409 |
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| 2013 |
Hersheson J, Mencacci NE, Davis M, MacDonald N, Trabzuni D, Ryten M, Pittman A, Paudel R, Kara E, Fawcett K, Plagnol V, Bhatia KP, Medlar AJ, Stanescu HC, Hardy J, et al. Mutations in the autoregulatory domain of β-tubulin 4a cause hereditary dystonia. Annals of Neurology. 73: 546-53. PMID 23424103 DOI: 10.1002/Ana.23832 |
0.401 |
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| 2013 |
Lopes LR, Zekavati A, Syrris P, Hubank M, Giambartolomei C, Dalageorgou C, Jenkins S, McKenna W, Plagnol V, Elliott PM. Genetic complexity in hypertrophic cardiomyopathy revealed by high-throughput sequencing. Journal of Medical Genetics. 50: 228-39. PMID 23396983 DOI: 10.1136/Jmedgenet-2012-101270 |
0.363 |
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| 2013 |
Alfawaz S, Fong F, Plagnol V, Wong FSL, Fearne J, Kelsell DP. Recessive oligodontia linked to a homozygous loss-of-function mutation in the SMOC2 gene Archives of Oral Biology. 58: 462-466. PMID 23317772 DOI: 10.1016/J.Archoralbio.2012.12.008 |
0.429 |
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| 2013 |
Cirak S, Foley AR, Herrmann R, Willer T, Yau S, Stevens E, Torelli S, Brodd L, Kamynina A, Vondracek P, Roper H, Longman C, Korinthenberg R, Marrosu G, Nürnberg P, ... ... Plagnol V, et al. ISPD gene mutations are a common cause of congenital and limb-girdle muscular dystrophies. Brain : a Journal of Neurology. 136: 269-81. PMID 23288328 DOI: 10.1093/Brain/Aws312 |
0.421 |
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| 2013 |
Davidson AE, Sergouniotis PI, Mackay DS, Wright GA, Waseem NH, Michaelides M, Holder GE, Robson AG, Moore AT, Plagnol V, Webster AR. RP1L1 variants are associated with a spectrum of inherited retinal diseases including retinitis pigmentosa and occult macular dystrophy. Human Mutation. 34: 506-14. PMID 23281133 DOI: 10.1002/Humu.22264 |
0.398 |
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| 2013 |
Tucci A, Kara E, Schossig A, Wolf NI, Plagnol V, Fawcett K, Paisán-Ruiz C, Moore M, Hernandez D, Musumeci S, Tennison M, Hennekam R, Palmeri S, Malandrini A, Raskin S, et al. Kohlschütter-Tönz syndrome: mutations in ROGDI and evidence of genetic heterogeneity. Human Mutation. 34: 296-300. PMID 23086778 DOI: 10.1002/Humu.22241 |
0.395 |
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| 2013 |
Scott CA, Plagnol V, Nitoiu D, Bland PJ, Blaydon DC, Chronnell CM, Poon DS, Bourn D, Gárdos L, Császár A, Tihanyi M, Rustin M, Burrows NP, Bennett C, Harper JI, et al. Targeted sequence capture and high-throughput sequencing in the molecular diagnosis of ichthyosis and other skin diseases. The Journal of Investigative Dermatology. 133: 573-6. PMID 22992804 DOI: 10.1038/Jid.2012.332 |
0.405 |
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| 2013 |
Haghighi A, Scott CA, Poon DS, Yaghoobi R, Saleh-Gohari N, Plagnol V, Kelsell DP. A missense mutation in the MBTPS2 gene underlies the X-linked form of Olmsted syndrome. The Journal of Investigative Dermatology. 133: 571-3. PMID 22931912 DOI: 10.1038/Jid.2012.289 |
0.359 |
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| 2013 |
Lopes LR, Giambartolomei C, Syrris P, O'Mahony C, Dalageorgou C, Jenkins S, Hubank M, Kenna WM, Plagnol V, Elliott P. High-throughput genotyping and phenotyping reveals new genetic determinants of clinical phenotype in hypertrophic cardiomyopathy European Heart Journal. 34: 863-863. DOI: 10.1093/Eurheartj/Eht308.863 |
0.305 |
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| 2013 |
De Oliveira H, Ricketts T, Fisher E, Greensmith L, Fratta P, Plagnol V, Baralle F, Buratti E, Herzog J, Gondo Y, Acevedo-Arozena A. A missense mutation in the mouse TDP-43 gene leads to a gain of TDP-43 mediated splicing function: Implications for neurodegeneration Journal of the Neurological Sciences. 333: e438-e439. DOI: 10.1016/J.Jns.2013.07.1571 |
0.419 |
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| 2012 |
Charlesworth G, Plagnol V, Holmström KM, Bras J, Sheerin UM, Preza E, Rubio-Agusti I, Ryten M, Schneider SA, Stamelou M, Trabzuni D, Abramov AY, Bhatia KP, Wood NW. Mutations in ANO3 cause dominant craniocervical dystonia: ion channel implicated in pathogenesis. American Journal of Human Genetics. 91: 1041-50. PMID 23200863 DOI: 10.1016/J.Ajhg.2012.10.024 |
0.369 |
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| 2012 |
Burns SO, Zenner HL, Plagnol V, Curtis J, Mok K, Eisenhut M, Kumararatne D, Doffinger R, Thrasher AJ, Nejentsev S. LRBA gene deletion in a patient presenting with autoimmunity without hypogammaglobulinemia. The Journal of Allergy and Clinical Immunology. 130: 1428-32. PMID 22981790 DOI: 10.1016/J.Jaci.2012.07.035 |
0.417 |
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| 2012 |
Plagnol V, Curtis J, Epstein M, Mok KY, Stebbings E, Grigoriadou S, Wood NW, Hambleton S, Burns SO, Thrasher AJ, Kumararatne D, Doffinger R, Nejentsev S. A robust model for read count data in exome sequencing experiments and implications for copy number variant calling. Bioinformatics (Oxford, England). 28: 2747-54. PMID 22942019 DOI: 10.1093/Bioinformatics/Bts526 |
0.322 |
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| 2012 |
Sailer A, Scholz SW, Gibbs JR, Tucci A, Johnson JO, Wood NW, Plagnol V, Hummerich H, Ding J, Hernandez D, Hardy J, Federoff HJ, Traynor BJ, Singleton AB, Houlden H. Exome sequencing in an SCA14 family demonstrates its utility in diagnosing heterogeneous diseases. Neurology. 79: 127-31. PMID 22675081 DOI: 10.1212/Wnl.0B013E31825F048E |
0.38 |
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| 2012 |
Tucci A, Charlesworth G, Sheerin UM, Plagnol V, Wood NW, Hardy J. Study of the genetic variability in a Parkinson's Disease gene: EIF4G1. Neuroscience Letters. 518: 19-22. PMID 22561553 DOI: 10.1016/J.Neulet.2012.04.033 |
0.367 |
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| 2012 |
Kirwan M, Walne AJ, Plagnol V, Velangi M, Ho A, Hossain U, Vulliamy T, Dokal I. Exome sequencing identifies autosomal-dominant SRP72 mutations associated with familial aplasia and myelodysplasia. American Journal of Human Genetics. 90: 888-92. PMID 22541560 DOI: 10.1016/J.Ajhg.2012.03.020 |
0.433 |
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| 2012 |
Blaydon DC, Etheridge SL, Risk JM, Hennies HC, Gay LJ, Carroll R, Plagnol V, McRonald FE, Stevens HP, Spurr NK, Bishop DT, Ellis A, Jankowski J, Field JK, Leigh IM, et al. RHBDF2 mutations are associated with tylosis, a familial esophageal cancer syndrome. American Journal of Human Genetics. 90: 340-6. PMID 22265016 DOI: 10.1016/J.Ajhg.2011.12.008 |
0.325 |
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| 2012 |
Mead S, Uphill J, Beck J, Poulter M, Campbell T, Lowe J, Adamson G, Hummerich H, Klopp N, Rückert IM, Wichmann HE, Azazi D, Plagnol V, Pako WH, Whitfield J, et al. Genome-wide association study in multiple human prion diseases suggests genetic risk factors additional to PRNP. Human Molecular Genetics. 21: 1897-906. PMID 22210626 DOI: 10.1093/Hmg/Ddr607 |
0.349 |
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| 2012 |
Walne AJ, Dokal A, Plagnol V, Beswick R, Kirwan M, de la Fuente J, Vulliamy T, Dokal I. Exome sequencing identifies MPL as a causative gene in familial aplastic anemia. Haematologica. 97: 524-8. PMID 22180433 DOI: 10.3324/Haematol.2011.052787 |
0.419 |
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| 2012 |
Cirak S, Foley RA, Herrmann R, Willer T, Elisabeth S, Yau M, Brodd L, Torelli S, Kamynina A, Vondracek P, Roper H, Longman C, Korinthenberg R, Marrosu G, Nurnberg P, ... Plagnol V, et al. G.P.2 Mutations in the human isoprenoid synthase domain containing gene are a common cause of congenital and limb girdle muscular dystrophies Neuromuscular Disorders. 22: 812. DOI: 10.1016/J.Nmd.2012.06.036 |
0.433 |
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| 2011 |
Sergouniotis PI, Davidson AE, Mackay DS, Lenassi E, Li Z, Robson AG, Yang X, Kam JH, Isaacs TW, Holder GE, Jeffery G, Beck JA, Moore AT, Plagnol V, Webster AR. Biallelic mutations in PLA2G5, encoding group V phospholipase A2, cause benign fleck retina. American Journal of Human Genetics. 89: 782-91. PMID 22137173 DOI: 10.1016/J.Ajhg.2011.11.004 |
0.363 |
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| 2011 |
Trynka G, Hunt KA, Bockett NA, Romanos J, Mistry V, Szperl A, Bakker SF, Bardella MT, Bhaw-Rosun L, Castillejo G, de la Concha EG, de Almeida RC, Dias KR, van Diemen CC, Dubois PC, ... ... Plagnol V, et al. Dense genotyping identifies and localizes multiple common and rare variant association signals in celiac disease. Nature Genetics. 43: 1193-201. PMID 22057235 DOI: 10.1038/Ng.998 |
0.345 |
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| 2011 |
Sergouniotis PI, Davidson AE, Mackay DS, Li Z, Yang X, Plagnol V, Moore AT, Webster AR. Recessive mutations in KCNJ13, encoding an inwardly rectifying potassium channel subunit, cause leber congenital amaurosis. American Journal of Human Genetics. 89: 183-90. PMID 21763485 DOI: 10.1016/J.Ajhg.2011.06.002 |
0.4 |
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| 2011 |
Szperl A, Ricaño-Ponce I, Li J, Deelen P, Kanterakis A, Plagnol V, van Dijk F, Westra H, Trynka G, Mulder C, Swertz M, Wijmenga C, Zheng HC. Exome sequencing in a family segregating for celiac disease Clinical Genetics. 80: 138-147. PMID 21627641 DOI: 10.1111/J.1399-0004.2011.01714.X |
0.381 |
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| 2011 |
Nalls MA, Plagnol V, Hernandez DG, Sharma M, Sheerin UM, Saad M, Simón-Sánchez J, Schulte C, Lesage S, Sveinbjörnsdóttir S, Stefánsson K, Martinez M, Hardy J, Heutink P, et al. Imputation of sequence variants for identification of genetic risks for Parkinson's disease: a meta-analysis of genome-wide association studies. Lancet. 377: 641-9. PMID 21292315 DOI: 10.1016/S0140-6736(10)62345-8 |
0.313 |
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| 2010 |
Whibley AC, Plagnol V, Tarpey PS, Abidi F, Fullston T, Choma MK, Boucher CA, Shepherd L, Willatt L, Parkin G, Smith R, Futreal PA, Shaw M, Boyle J, Licata A, et al. Fine-scale survey of X chromosome copy number variants and indels underlying intellectual disability. American Journal of Human Genetics. 87: 173-88. PMID 20655035 DOI: 10.1016/J.Ajhg.2010.06.017 |
0.388 |
|
| 2010 |
Craddock N, Hurles ME, Cardin N, Pearson RD, Plagnol V, Robson S, Vukcevic D, Barnes C, Conrad DF, Giannoulatou E, Holmes C, Marchini JL, Stirrups K, Tobin MD, et al. Genome-wide association study of CNVs in 16,000 cases of eight common diseases and 3,000 shared controls. Nature. 464: 713-20. PMID 20360734 DOI: 10.1038/Nature08979 |
0.34 |
|
| 2010 |
Heap GA, Yang JH, Downes K, Healy BC, Hunt KA, Bockett N, Franke L, Dubois PC, Mein CA, Dobson RJ, Albert TJ, Rodesch MJ, Clayton DG, Todd JA, van Heel DA, ... Plagnol V, et al. Genome-wide analysis of allelic expression imbalance in human primary cells by high-throughput transcriptome resequencing. Human Molecular Genetics. 19: 122-34. PMID 19825846 DOI: 10.1093/Hmg/Ddp473 |
0.372 |
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| 2009 |
Dendrou CA, Fung E, Esposito L, Todd JA, Wicker LS, Plagnol V. Fluorescence intensity normalisation: correcting for time effects in large-scale flow cytometric analysis. Advances in Bioinformatics. 476106. PMID 20049162 DOI: 10.1155/2009/476106 |
0.319 |
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| 2009 |
Dendrou CA, Plagnol V, Fung E, Yang JH, Downes K, Cooper JD, Nutland S, Coleman G, Himsworth M, Hardy M, Burren O, Healy B, Walker NM, Koch K, Ouwehand WH, et al. Cell-specific protein phenotypes for the autoimmune locus IL2RA using a genotype-selectable human bioresource. Nature Genetics. 41: 1011-5. PMID 19701192 DOI: 10.1038/Ng.434 |
0.379 |
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| 2009 |
Plagnol V, Smyth DJ, Todd JA, Clayton DG. Statistical independence of the colocalized association signals for type 1 diabetes and RPS26 gene expression on chromosome 12q13. Biostatistics (Oxford, England). 10: 327-34. PMID 19039033 DOI: 10.1093/Biostatistics/Kxn039 |
0.341 |
|
| 2009 |
Hafler JP, Maier LM, Cooper JD, Plagnol V, Hinks A, Simmonds MJ, Stevens HE, Walker NM, Healy B, Howson JMM, Maisuria M, Duley S, Coleman G, Gough SCL, Worthington J, et al. CD226 Gly307Ser association with multiple autoimmune diseases Genes and Immunity. 10: 5-10. PMID 18971939 DOI: 10.1038/Gene.2008.82 |
0.32 |
|
| 2008 |
Smyth DJ, Plagnol V, Walker NM, Cooper JD, Downes K, Yang JH, Howson JM, Stevens H, McManus R, Wijmenga C, Heap GA, Dubois PC, Clayton DG, Hunt KA, van Heel DA, et al. Shared and distinct genetic variants in type 1 diabetes and celiac disease. The New England Journal of Medicine. 359: 2767-77. PMID 19073967 DOI: 10.1056/Nejmoa0807917 |
0.303 |
|
| 2008 |
Willcocks LC, Lyons PA, Clatworthy MR, Robinson JI, Yang W, Newland SA, Plagnol V, McGovern NN, Condliffe AM, Chilvers ER, Adu D, Jolly EC, Watts R, Lau YL, Morgan AW, et al. Copy number of FCGR3B, which is associated with systemic lupus erythematosus, correlates with protein expression and immune complex uptake. The Journal of Experimental Medicine. 205: 1573-82. PMID 18559452 DOI: 10.1084/Jem.20072413 |
0.312 |
|
| 2007 |
Hunter K, Rainbow D, Plagnol V, Todd JA, Peterson LB, Wicker LS. Interactions between Idd5.1/Ctla4 and other type 1 diabetes genes. Journal of Immunology (Baltimore, Md. : 1950). 179: 8341-9. PMID 18056379 DOI: 10.4049/Jimmunol.179.12.8341 |
0.32 |
|
| 2007 |
Lowe CE, Cooper JD, Brusko T, Walker NM, Smyth DJ, Bailey R, Bourget K, Plagnol V, Field S, Atkinson M, Clayton DG, Wicker LS, Todd JA. Large-scale genetic fine mapping and genotype-phenotype associations implicate polymorphism in the IL2RA region in type 1 diabetes. Nature Genetics. 39: 1074-82. PMID 17676041 DOI: 10.1038/Ng2102 |
0.314 |
|
| 2006 |
Plagnol V, Padhukasahasram B, Wall JD, Marjoram P, Nordborg M. Relative influences of crossing over and gene conversion on the pattern of linkage disequilibrium in Arabidopsis thaliana. Genetics. 172: 2441-8. PMID 16299388 DOI: 10.1534/Genetics.104.040311 |
0.304 |
|
| 2003 |
Marjoram P, Molitor J, Plagnol V, Tavare S. Markov chain Monte Carlo without likelihoods. Proceedings of the National Academy of Sciences of the United States of America. 100: 15324-8. PMID 14663152 DOI: 10.1073/Pnas.0306899100 |
0.485 |
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