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Items: 1 to 50 of 171

1.

Novel IL2RG Mutation Causes Leaky TLOWB+NK+ SCID With Nodular Regenerative Hyperplasia and Normal IL-15 STAT5 Phosphorylation.

Neves JF, Martins C, Cordeiro AI, Neves C, Plagnol V, Curtis J, Fabre M, Bibi S, Borrego LM, Moshous D, Nejentsev S, Gilmour K.

J Pediatr Hematol Oncol. 2018 Jun 22. doi: 10.1097/MPH.0000000000001232. [Epub ahead of print]

PMID:
29939941
2.

Insights into the genetic epidemiology of Crohn's and rare diseases in the Ashkenazi Jewish population.

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, Levine AP, Schiff E, Pontikos N, Weisburd B, Lek M, Karczewski KJ, Bloom J, Minikel EV, Petersen BS, Beaugerie L, Seksik P, Cosnes J, Schreiber S, Bokemeyer B, Bethge J; International IBD Genetics Consortium; NIDDK IBD Genetics Consortium; T2D-GENES Consortium, Heap G, Ahmad T, Plagnol V, Segal AW, Targan S, Turner D, Saavalainen P, Farkkila M, Kontula K, Palotie A, Brant SR, Duerr RH, Silverberg MS, Rioux JD, Weersma RK, Franke A, Jostins L, Anderson CA, Barrett JC, MacArthur DG, Jalas C, Sokol H, Xavier RJ, Pulver A, Cho JH, McGovern DPB, Daly MJ.

PLoS Genet. 2018 May 24;14(5):e1007329. doi: 10.1371/journal.pgen.1007329. eCollection 2018 May.

3.

Mice with endogenous TDP-43 mutations exhibit gain of splicing function and characteristics of amyotrophic lateral sclerosis.

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, Marrero-Gagliardi A, Stewart M, Mianne J, Corrochano S, Emmett W, Codner G, Groves M, Fukumura R, Gondo Y, Lythgoe M, Pauws E, Peskett E, Stanier P, Teboul L, Hallegger M, Calvo A, Chiò A, Isaacs AM, Fawzi NL, Wang E, Housman DE, Baralle F, Greensmith L, Buratti E, Plagnol V, Fisher EM, Acevedo-Arozena A.

EMBO J. 2018 Jun 1;37(11). pii: e98684. doi: 10.15252/embj.201798684. Epub 2018 May 15.

4.

A Transcriptomic Signature of the Hypothalamic Response to Fasting and BDNF Deficiency in Prader-Willi Syndrome.

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.

Cell Rep. 2018 Mar 27;22(13):3401-3408. doi: 10.1016/j.celrep.2018.03.018.

5.

Development of a highly sensitive liquid biopsy platform to detect clinically-relevant cancer mutations at low allele fractions in cell-free DNA.

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, Whale AS, Huggett JF, Foy CA, Jones GM, Raveh-Amit H, Schmitt K, Devonshire A, Green E, Forshew T, Plagnol V, Rosenfeld N.

PLoS One. 2018 Mar 16;13(3):e0194630. doi: 10.1371/journal.pone.0194630. eCollection 2018.

6.

Analytical validation of a next generation sequencing liquid biopsy assay for high sensitivity broad molecular profiling.

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, Dimitrov P, Campbell N, Morris C, Rosenfeld N, Clark J, Gale D, Platt J, Calaway J, Jones G, Forshew T.

PLoS One. 2018 Mar 15;13(3):e0193802. doi: 10.1371/journal.pone.0193802. eCollection 2018.

7.

Peripheral tissues reprogram CD8+ T cells for pathogenicity during graft-versus-host disease.

Santos E Sousa P, Ciré S, Conlan T, Jardine L, Tkacz C, Ferrer IR, Lomas C, Ward S, West H, Dertschnig S, Blobner S, Means TK, Henderson S, Kaplan DH, Collin M, Plagnol V, Bennett CL, Chakraverty R.

JCI Insight. 2018 Mar 8;3(5). pii: 97011. doi: 10.1172/jci.insight.97011. [Epub ahead of print]

8.

Amplicon-based next-generation sequencing of plasma cell-free DNA for detection of driver and resistance mutations in advanced non-small cell lung cancer.

Guibert N, Hu Y, Feeney N, Kuang Y, Plagnol V, Jones G, Howarth K, Beeler JF, Paweletz CP, Oxnard GR.

Ann Oncol. 2018 Apr 1;29(4):1049-1055. doi: 10.1093/annonc/mdy005.

PMID:
29325035
9.

A novel missense mutation in HSF4 causes autosomal-dominant congenital lamellar cataract in a British family.

Berry V, Pontikos N, Moore A, Ionides ACW, Plagnol V, Cheetham ME, Michaelides M.

Eye (Lond). 2018 Apr;32(4):806-812. doi: 10.1038/eye.2017.268. Epub 2017 Dec 15.

PMID:
29243736
10.

Familial Limbal Stem Cell Deficiency: Clinical, Cytological and Genetic Characterization.

Dudakova L, Cheong SS, Merjava SR, Skalicka P, Michalickova M, Palos M, Mahelkova G, Krizova D, Hlozanek M, Trkova M, Chojnowski JL, Hrdlickova E, Pontikos N, Plagnol V, Veselá V, Jirsova K, Hardcastle AJ, Filipec M, Lauderdale JD, Liskova P.

Stem Cell Rev. 2018 Feb;14(1):148-151. doi: 10.1007/s12015-017-9780-y. No abstract available.

PMID:
29134474
11.

Humanized mutant FUS drives progressive motor neuron degeneration without aggregation in 'FUSDelta14' knockin mice.

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, Greensmith L, Acevedo Arozena A, Isaacs AM, Davies B, Fratta P, Fisher EMC.

Brain. 2017 Nov 1;140(11):2797-2805. doi: 10.1093/brain/awx248.

12.

A recurrent splice-site mutation in EPHA2 causing congenital posterior nuclear cataract.

Berry V, Pontikos N, Albarca-Aguilera M, Plagnol V, Massouras A, Prescott D, Moore AT, Arno G, Cheetham ME, Michaelides M.

Ophthalmic Genet. 2018 Apr;39(2):236-241. doi: 10.1080/13816810.2017.1381977. Epub 2017 Oct 17.

PMID:
29039721
13.

Missense variants in the X-linked gene PRPS1 cause retinal degeneration in females.

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, Webster AR, Michaelides M, Hardcastle AJ; 100,000 Genomes Project, the Japan Eye Genetic Consortium and the UK Inherited Retinal Dystrophy Consortium.

Hum Mutat. 2018 Jan;39(1):80-91. doi: 10.1002/humu.23349. Epub 2017 Oct 17.

PMID:
28967191
14.

Digital PCR analysis of circulating tumor DNA: a biomarker for chondrosarcoma diagnosis, prognostication, and residual disease detection.

Gutteridge A, Rathbone VM, Gibbons R, Bi M, Archard N, Davies KEJ, Brown J, Plagnol V, Pillay N, Amary F, O'Donnell P, Gupta M, Tirabosco R, Flanagan AM, Forshew T.

Cancer Med. 2017 Oct;6(10):2194-2202. doi: 10.1002/cam4.1146. Epub 2017 Aug 23.

15.

Quantitative analysis of cryptic splicing associated with TDP-43 depletion.

Humphrey J, Emmett W, Fratta P, Isaacs AM, Plagnol V.

BMC Med Genomics. 2017 May 26;10(1):38. doi: 10.1186/s12920-017-0274-1.

16.

Bidirectional nucleolar dysfunction in C9orf72 frontotemporal lobar degeneration.

Mizielinska S, Ridler CE, Balendra R, Thoeng A, Woodling NS, Grässer FA, Plagnol V, Lashley T, Partridge L, Isaacs AM.

Acta Neuropathol Commun. 2017 Apr 18;5(1):29. doi: 10.1186/s40478-017-0432-x.

17.

Phenopolis: an open platform for harmonization and analysis of genetic and phenotypic data.

Pontikos N, Yu J, Moghul I, Withington L, Blanco-Kelly F, Vulliamy T, Wong TLE, Murphy C, Cipriani V, Fiorentino A, Arno G, Greene D, Jacobsen JOB, Clark T, Gregory DS, Nemeth AM, Halford S, Inglehearn CF, Downes S, Black GC, Webster AR, Hardcastle AJ; UKIRDC, Plagnol V.

Bioinformatics. 2017 Aug 1;33(15):2421-2423. doi: 10.1093/bioinformatics/btx147.

PMID:
28334266
18.

Huntington's disease blood and brain show a common gene expression pattern and share an immune signature with Alzheimer's disease.

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.

Sci Rep. 2017 Mar 21;7:44849. doi: 10.1038/srep44849.

19.

Mutations in the Spliceosome Component CWC27 Cause Retinal Degeneration with or without Additional Developmental Anomalies.

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, Li H, Lopez-Martinez MA, Azevedo LF, Hubert L, Pontikos N, Eblimit A, Lorda-Sanchez I, Kheir V, Plagnol V, Oufadem M, Soens ZT, Yang L, Bole-Feysot C, Pfundt R, Allaman-Pillet N, Nitschké P, Cheetham ME, Lyonnet S, Agrawal SA, Li H, Pinton G, Michaelides M, Besmond C, Li Y, Yuan Z, von Lintig J, Webster AR, Le Hir H, Stoilov P; UK Inherited Retinal Dystrophy Consortium, Amiel J, Hardcastle AJ, Ayuso C, Sui R, Chen R, Allikmets R, Schorderet DF.

Am J Hum Genet. 2017 Apr 6;100(4):592-604. doi: 10.1016/j.ajhg.2017.02.008. Epub 2017 Mar 9.

20.

Pleiotropic effect of a novel mutation in GCNT2 causing congenital cataract and a rare adult i blood group phenotype.

Cheong SS, Hull S, Jones B, Chana R, Thornton N, Plagnol V, Moore AT, Hardcastle AJ.

Hum Genome Var. 2017 Feb 16;4:17004. doi: 10.1038/hgv.2017.4. eCollection 2017.

21.

Genetic variants alter T-bet binding and gene expression in mucosal inflammatory disease.

Soderquest K, Hertweck A, Giambartolomei C, Henderson S, Mohamed R, Goldberg R, Perucha E, Franke L, Herrero J, Plagnol V, Jenner RG, Lord GM.

PLoS Genet. 2017 Feb 10;13(2):e1006587. doi: 10.1371/journal.pgen.1006587. eCollection 2017 Feb.

22.

Biallelic Mutation of ARHGEF18, Involved in the Determination of Epithelial Apicobasal Polarity, Causes Adult-Onset Retinal Degeneration.

Arno G, Carss KJ, Hull S, Zihni C, Robson AG, Fiorentino A; UK Inherited Retinal Disease Consortium, Hardcastle AJ, Holder GE, Cheetham ME, Plagnol V; NIHR Bioresource - Rare Diseases Consortium, Moore AT, Raymond FL, Matter K, Balda MS, Webster AR.

Am J Hum Genet. 2017 Feb 2;100(2):334-342. doi: 10.1016/j.ajhg.2016.12.014. Epub 2017 Jan 26.

23.

Osimertinib benefit in EGFR-mutant NSCLC patients with T790M-mutation detected by circulating tumour DNA.

Remon J, Caramella C, Jovelet C, Lacroix L, Lawson A, Smalley S, Howarth K, Gale D, Green E, Plagnol V, Rosenfeld N, Planchard D, Bluthgen MV, Gazzah A, Pannet C, Nicotra C, Auclin E, Soria JC, Besse B.

Ann Oncol. 2017 Apr 1;28(4):784-790. doi: 10.1093/annonc/mdx017.

PMID:
28104619
24.

Clinical Characterization of CNGB1-Related Autosomal Recessive Retinitis Pigmentosa.

Hull S, Attanasio M, Arno G, Carss K, Robson AG, Thompson DA, Plagnol V, Michaelides M, Holder GE, Henderson RH, Raymond FL, Moore AT, Webster AR.

JAMA Ophthalmol. 2017 Jan 5. doi: 10.1001/jamaophthalmol.2016.5213. [Epub ahead of print]

PMID:
28056120
25.

Comprehensive Rare Variant Analysis via Whole-Genome Sequencing to Determine the Molecular Pathology of Inherited Retinal Disease.

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, Josifova D, Bitner-Glindzicz M, Scott RH, Clement E, Allen L, Armstrong R, Brady AF, Carmichael J, Chitre M, Henderson RHH, Hurst J, MacLaren RE, Murphy E, Paterson J, Rosser E, Thompson DA, Wakeling E, Ouwehand WH, Michaelides M, Moore AT; NIHR-BioResource Rare Diseases Consortium, Webster AR, Raymond FL.

Am J Hum Genet. 2017 Jan 5;100(1):75-90. doi: 10.1016/j.ajhg.2016.12.003. Epub 2016 Dec 29.

26.

Biallelic JAK1 mutations in immunodeficient patient with mycobacterial infection.

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.

Nat Commun. 2016 Dec 23;7:13992. doi: 10.1038/ncomms13992.

27.

Mutations in REEP6 Cause Autosomal-Recessive Retinitis Pigmentosa.

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, Nicols R, Pontikos N, Holder GE; UKIRDC, Asomugha C, Raymond FL, Moore AT, Plagnol V, Michaelides M, Hardcastle AJ, Li Y, Cukras C, Webster AR, Cheetham ME, Chen R.

Am J Hum Genet. 2016 Dec 1;99(6):1305-1315. doi: 10.1016/j.ajhg.2016.10.008. Epub 2016 Nov 23.

28.

Mutations in CPAMD8 Cause a Unique Form of Autosomal-Recessive Anterior Segment Dysgenesis.

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.

Am J Hum Genet. 2016 Dec 1;99(6):1338-1352. doi: 10.1016/j.ajhg.2016.09.022. Epub 2016 Nov 10.

29.

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.

Acta Neuropathol. 2017 Jan;133(1):139-147. doi: 10.1007/s00401-016-1629-y. Epub 2016 Oct 21.

30.

Marked overlap of four genetic syndromes with dyskeratosis congenita confounds clinical diagnosis.

Walne AJ, Collopy L, Cardoso S, Ellison A, Plagnol V, Albayrak C, Albayrak D, Kilic SS, Patıroglu T, Akar H, Godfrey K, Carter T, Marafie M, Vora A, Sundin M, Vulliamy T, Tummala H, Dokal I.

Haematologica. 2016 Oct;101(10):1180-1189. Epub 2016 Sep 9.

31.

Human Coronavirus OC43 Associated with Fatal Encephalitis.

Morfopoulou S, Brown JR, Davies EG, Anderson G, Virasami A, Qasim W, Chong WK, Hubank M, Plagnol V, Desforges M, Jacques TS, Talbot PJ, Breuer J.

N Engl J Med. 2016 Aug 4;375(5):497-8. doi: 10.1056/NEJMc1509458. No abstract available.

32.

Loss-of-Function Mutations in SERPINB8 Linked to Exfoliative Ichthyosis with Impaired Mechanical Stability of Intercellular Adhesions.

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.

Am J Hum Genet. 2016 Aug 4;99(2):430-6. doi: 10.1016/j.ajhg.2016.06.004. Epub 2016 Jul 28.

33.

Expanding the Phenotype of TRNT1-Related Immunodeficiency to Include Childhood Cataract and Inner Retinal Dysfunction.

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.

JAMA Ophthalmol. 2016 Sep 1;134(9):1049-53. doi: 10.1001/jamaophthalmol.2015.5833.

PMID:
27389523
34.

Characterization of CDH3-Related Congenital Hypotrichosis With Juvenile Macular Dystrophy.

Hull S, Arno G, Robson AG, Broadgate S, Plagnol V, McKibbin M, Halford S, Michaelides M, Holder GE, Moore AT, Khan KN, Webster AR.

JAMA Ophthalmol. 2016 Sep 1;134(9):992-1000. doi: 10.1001/jamaophthalmol.2016.2089.

PMID:
27386845
35.

A Frameshift in CSF2RB Predominant Among Ashkenazi Jews Increases Risk for Crohn's Disease and Reduces Monocyte Signaling via GM-CSF.

Chuang LS, Villaverde N, Hui KY, Mortha A, Rahman A, Levine AP, Haritunians T, Evelyn Ng SM, Zhang W, Hsu NY, Facey JA, Luong T, Fernandez-Hernandez H, Li D, Rivas M, Schiff ER, Gusev A, Schumm LP, Bowen BM, Sharma Y, Ning K, Remark R, Gnjatic S, Legnani P, George J, Sands BE, Stempak JM, Datta LW, Lipka S, Katz S, Cheifetz AS, Barzilai N, Pontikos N, Abraham C, Dubinsky MJ, Targan S, Taylor K, Rotter JI, Scherl EJ, Desnick RJ, Abreu MT, Zhao H, Atzmon G, Pe'er I, Kugathasan S, Hakonarson H, McCauley JL, Lencz T, Darvasi A, Plagnol V, Silverberg MS, Muise AM, Brant SR, Daly MJ, Segal AW, Duerr RH, Merad M, McGovern DP, Peter I, Cho JH.

Gastroenterology. 2016 Oct;151(4):710-723.e2. doi: 10.1053/j.gastro.2016.06.045. Epub 2016 Jul 1.

36.

Genetic Complexity of Crohn's Disease in Two Large Ashkenazi Jewish Families.

Levine AP, Pontikos N, Schiff ER, Jostins L, Speed D; NIDDK Inflammatory Bowel Disease Genetics Consortium, Lovat LB, Barrett JC, Grasberger H, Plagnol V, Segal AW.

Gastroenterology. 2016 Oct;151(4):698-709. doi: 10.1053/j.gastro.2016.06.040. Epub 2016 Jul 1.

37.

TRNT1 deficiency: clinical, biochemical and molecular genetic features.

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.

Orphanet J Rare Dis. 2016 Jul 2;11(1):90. doi: 10.1186/s13023-016-0477-0.

38.

DNAJC21 Mutations Link a Cancer-Prone Bone Marrow Failure Syndrome to Corruption in 60S Ribosome Subunit Maturation.

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, Vulliamy T.

Am J Hum Genet. 2016 Jul 7;99(1):115-24. doi: 10.1016/j.ajhg.2016.05.002. Epub 2016 Jun 23.

39.

CHiCAGO: robust detection of DNA looping interactions in Capture Hi-C data.

Cairns J, Freire-Pritchett P, Wingett SW, Várnai C, Dimond A, Plagnol V, Zerbino D, Schoenfelder S, Javierre BM, Osborne C, Fraser P, Spivakov M.

Genome Biol. 2016 Jun 15;17(1):127. doi: 10.1186/s13059-016-0992-2.

40.

Recessive Retinopathy Consequent on Mutant G-Protein β Subunit 3 (GNB3).

Arno G, Holder GE, Chakarova C, Kohl S, Pontikos N, Fiorentino A, Plagnol V, Cheetham ME, Hardcastle AJ, Webster AR, Michaelides M; UK Inherited Retinal Disease Consortium.

JAMA Ophthalmol. 2016 Aug 1;134(8):924-7. doi: 10.1001/jamaophthalmol.2016.1543.

PMID:
27281386
41.

RNA-Seq of Huntington's disease patient myeloid cells reveals innate transcriptional dysregulation associated with proinflammatory pathway activation.

Miller JR, Lo KK, Andre R, Hensman Moss DJ, Träger U, Stone TC, Jones L, Holmans P, Plagnol V, Tabrizi SJ.

Hum Mol Genet. 2016 Jul 15;25(14):2893-2904. Epub 2016 May 11.

42.

Deletions at 22q11.2 in idiopathic Parkinson's disease: a combined analysis of genome-wide association data.

Mok KY, Sheerin U, Simón-Sánchez J, Salaka A, Chester L, Escott-Price V, Mantripragada K, Doherty KM, Noyce AJ, Mencacci NE, Lubbe SJ; International Parkinson's Disease Genomics Consortium (IPDGC), Williams-Gray CH, Barker RA, van Dijk KD, Berendse HW, Heutink P, Corvol JC, Cormier F, Lesage S, Brice A, Brockmann K, Schulte C, Gasser T, Foltynie T, Limousin P, Morrison KE, Clarke CE, Sawcer S, Warner TT, Lees AJ, Morris HR, Nalls MA, Singleton AB, Hardy J, Abramov AY, Plagnol V, Williams NM, Wood NW.

Lancet Neurol. 2016 May;15(6):585-96. doi: 10.1016/S1474-4422(16)00071-5. Epub 2016 Mar 24.

43.

Nonsyndromic Retinal Dystrophy due to Bi-Allelic Mutations in the Ciliary Transport Gene IFT140.

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, Webster AR, Arno G, Moore AT.

Invest Ophthalmol Vis Sci. 2016 Mar;57(3):1053-62. doi: 10.1167/iovs.15-17976.

PMID:
26968735
44.

The ophthalmic presentation of Hermansky-Pudlak syndrome 6.

Hull S, Arno G, Holder GE, Plagnol V, Gomez K, Liesner R, Webster AR, Moore AT.

Br J Ophthalmol. 2016 Nov;100(11):1521-1524. doi: 10.1136/bjophthalmol-2015-308067. Epub 2016 Jan 28.

PMID:
26823395
45.

Post-GWAS methodologies for localisation of functional non-coding variants: ANGPTL3.

Oldoni F, Palmen J, Giambartolomei C, Howard P, Drenos F, Plagnol V, Humphries SE, Talmud PJ, Smith AJ.

Atherosclerosis. 2016 Mar;246:193-201. doi: 10.1016/j.atherosclerosis.2015.12.009. Epub 2015 Dec 12.

46.

Plasma urate concentration and risk of coronary heart disease: a Mendelian randomisation analysis.

White J, Sofat R, Hemani G, Shah T, Engmann J, Dale C, Shah S, Kruger FA, Giambartolomei C, Swerdlow DI, Palmer T, McLachlan S, Langenberg C, Zabaneh D, Lovering R, Cavadino A, Jefferis B, Finan C, Wong A, Amuzu A, Ong K, Gaunt TR, Warren H, Davies TL, Drenos F, Cooper J, Ebrahim S, Lawlor DA, Talmud PJ, Humphries SE, Power C, Hypponen E, Richards M, Hardy R, Kuh D, Wareham N, Ben-Shlomo Y, Day IN, Whincup P, Morris R, Strachan MW, Price J, Kumari M, Kivimaki M, Plagnol V, Whittaker JC; International Consortium for Blood Pressure (ICBP), Smith GD, Dudbridge F, Casas JP, Holmes MV, Hingorani AD; UCLEB (University College London-London School of Hygiene & Tropical Medicine-Edinburgh-Bristol Consortium.

Lancet Diabetes Endocrinol. 2016 Apr;4(4):327-36. doi: 10.1016/S2213-8587(15)00386-1. Epub 2016 Jan 16.

47.

Autosomal-Dominant Corneal Endothelial Dystrophies CHED1 and PPCD1 Are Allelic Disorders Caused by Non-coding Mutations in the Promoter of OVOL2.

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, Veli N, Ebenezer ND, Cheetham ME, Daniels JT, Thaung CM, Jirsova K, Plagnol V, Filipec M, Kmoch S, Tuft SJ, Hardcastle AJ.

Am J Hum Genet. 2016 Jan 7;98(1):75-89. doi: 10.1016/j.ajhg.2015.11.018. Epub 2015 Dec 31.

48.

Disease Expression in Autosomal Recessive Retinal Dystrophy Associated With Mutations in the DRAM2 Gene.

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; Uk Inherited Retinal Disease Consortium, Ali M, Holder GE, Charbel Issa P, Leroy BP, Inglehearn CF, Webster AR.

Invest Ophthalmol Vis Sci. 2015 Dec;56(13):8083-90. doi: 10.1167/iovs.15-17604.

PMID:
26720460
49.

Limited Clinical Utility of Non-invasive Prenatal Testing for Subchromosomal Abnormalities.

Lo KK, Karampetsou E, Boustred C, McKay F, Mason S, Hill M, Plagnol V, Chitty LS.

Am J Hum Genet. 2016 Jan 7;98(1):34-44. doi: 10.1016/j.ajhg.2015.11.016. Epub 2015 Dec 17.

50.

Variants Within TSC2 Exons 25 and 31 Are Very Unlikely to Cause Clinically Diagnosable Tuberous Sclerosis.

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, Humphries SE, Migone N, Povey S.

Hum Mutat. 2016 Apr;37(4):364-70. doi: 10.1002/humu.22951. Epub 2016 Jan 12.

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