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Page 1
Genetic complexity in hypertrophic cardiomyopathy revealed by high-throughput sequencing.
Lopes LR, Zekavati A, Syrris P, Hubank M, Giambartolomei C, Dalageorgou C, Jenkins S, McKenna W; Uk10k Consortium; Plagnol V, Elliott PM. Lopes LR, et al. Among authors: plagnol v. J Med Genet. 2013 Apr;50(4):228-39. doi: 10.1136/jmedgenet-2012-101270. Epub 2013 Feb 8. J Med Genet. 2013. PMID: 23396983 Free PMC article.
Diagnostic yield of molecular autopsy in patients with sudden arrhythmic death syndrome using targeted exome sequencing.
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, Langman C, Fynn SP, Goddard M, White A, Bundgaard H, Ferrero-Miliani L, Wheeldon N, Suvarna SK, O'Beirne A, Lowe MD, McKenna WJ, Elliott PM, Lambiase PD. Nunn LM, et al. Among authors: plagnol v. Europace. 2016 Jun;18(6):888-96. doi: 10.1093/europace/euv285. Epub 2015 Oct 25. Europace. 2016. PMID: 26498160 Free PMC article.
Atlas of the clinical genetics of human dilated cardiomyopathy.
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, Fischer S, Franke J, Marquart S, Barb I, Li DT, Amr A, Ehlermann P, Mereles D, Weis T, Hassel S, Kremer A, King V, Wirsz E, Isnard R, Komajda M, Serio A, Grasso M, Syrris P, Wicks E, Plagnol V, Lopes L, Gadgaard T, Eiskjær H, Jørgensen M, Garcia-Giustiniani D, Ortiz-Genga M, Crespo-Leiro MG, Deprez RH, Christiaans I, van Rijsingen IA, Wilde AA, Waldenstrom A, Bolognesi M, Bellazzi R, Mörner S, Bermejo JL, Monserrat L, Villard E, Mogensen J, Pinto YM, Charron P, Elliott P, Arbustini E, Katus HA, Meder B. Haas J, et al. Among authors: plagnol v. Eur Heart J. 2015 May 7;36(18):1123-35a. doi: 10.1093/eurheartj/ehu301. Epub 2014 Aug 27. Eur Heart J. 2015. PMID: 25163546
Rare Variant Analysis of Human and Rodent Obesity Genes in Individuals with Severe Childhood Obesity.
Hendricks AE, Bochukova EG, Marenne G, Keogh JM, Atanassova N, Bounds R, Wheeler E, Mistry V, Henning E, Körner A, Muddyman D, McCarthy S, Hinney A, Hebebrand J, Scott RA, Langenberg C, Wareham NJ, Surendran P, Howson JM, Butterworth AS, Danesh J, Nordestgaard BG, Nielsen SF, Afzal S, Papadia S, Ashford S, Garg S, Millhauser GL, Palomino RI, Kwasniewska A, Tachmazidou I, O'Rahilly S, Zeggini E, Barroso I, Farooqi IS; Understanding Society Scientific Group; EPIC-CVD Consortium; UK10K Consortium. Hendricks AE, et al. Sci Rep. 2017 Jun 29;7(1):4394. doi: 10.1038/s41598-017-03054-8. Sci Rep. 2017. PMID: 28663568 Free PMC article.
Deep sequencing reveals persistence of cell-associated mumps vaccine virus in chronic encephalitis.
Morfopoulou S, Mee ET, Connaughton SM, Brown JR, Gilmour K, Chong WK, Duprex WP, Ferguson D, Hubank M, Hutchinson C, Kaliakatsos M, McQuaid S, Paine S, Plagnol V, Ruis C, Virasami A, Zhan H, Jacques TS, Schepelmann S, Qasim W, Breuer J. Morfopoulou S, et al. Among authors: plagnol v. Acta Neuropathol. 2017 Jan;133(1):139-147. doi: 10.1007/s00401-016-1629-y. Epub 2016 Oct 21. Acta Neuropathol. 2017. PMID: 27770235 Free PMC article.
Low-frequency variation in TP53 has large effects on head circumference and intracranial volume.
Haworth S, Shapland CY, Hayward C, Prins BP, Felix JF, Medina-Gomez C, Rivadeneira F, Wang C, Ahluwalia TS, Vrijheid M, Guxens M, Sunyer J, Tachmazidou I, Walter K, Iotchkova V, Jackson A, Cleal L, Huffmann J, Min JL, Sass L, Timmers PRHJ; UK10K consortium; Davey Smith G, Fisher SE, Wilson JF, Cole TJ, Fernandez-Orth D, Bønnelykke K, Bisgaard H, Pennell CE, Jaddoe VWV, Dedoussis G, Timpson N, Zeggini E, Vitart V, St Pourcain B. Haworth S, et al. Nat Commun. 2019 Jan 21;10(1):357. doi: 10.1038/s41467-018-07863-x. Nat Commun. 2019. PMID: 30664637 Free PMC article.
The UK10K project identifies rare variants in health and disease.
UK10K Consortium; 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, Li R, Floyd J, Wain LV, Barroso I, Humphries SE, Hurles ME, Zeggini E, Barrett JC, Plagnol V, Richards JB, Greenwood CM, Timpson NJ, Durbin R, Soranzo N. UK10K Consortium, et al. Among authors: plagnol v. Nature. 2015 Oct 1;526(7571):82-90. doi: 10.1038/nature14962. Epub 2015 Sep 14. Nature. 2015. PMID: 26367797 Free PMC article.
238 results