Format
Sort by
Items per page

Send to

Choose Destination

Search results

Items: 40

1.

Genetic Variants Associated With Corneal Biomechanical Properties and Potentially Conferring Susceptibility to Keratoconus in a Genome-Wide Association Study.

Khawaja AP, Rojas Lopez KE, Hardcastle AJ, Hammond CJ, Liskova P, Davidson AE, Gore DM, Hafford Tear NJ, Pontikos N, Hayat S, Wareham N, Khaw KT, Tuft SJ, Foster PJ, Hysi PG.

JAMA Ophthalmol. 2019 Jun 27. doi: 10.1001/jamaophthalmol.2019.2058. [Epub ahead of print]

PMID:
31246245
2.

One- and two-year visual outcomes from the Moorfields age-related macular degeneration database: a retrospective cohort study and an open science resource.

Fasler K, Moraes G, Wagner S, Kortuem KU, Chopra R, Faes L, Preston G, Pontikos N, Fu DJ, Patel P, Tufail A, Lee AY, Balaskas K, Keane PA.

BMJ Open. 2019 Jun 21;9(6):e027441. doi: 10.1136/bmjopen-2018-027441.

3.

CUGC for posterior polymorphous corneal dystrophy (PPCD).

Davidson AE, Hafford-Tear NJ, Dudakova L, Sadan AN, Pontikos N, Hardcastle AJ, Tuft SJ, Liskova P.

Eur J Hum Genet. 2019 Jun 14. doi: 10.1038/s41431-019-0448-8. [Epub ahead of print]

PMID:
31201376
4.

ReLayer: a Free, Online Tool for Extracting Retinal Thickness From Cross-Platform OCT Images.

Ometto G, Moghul I, Montesano G, Hunter A, Pontikos N, Jones PR, Keane PA, Liu X, Denniston AK, Crabb DP.

Transl Vis Sci Technol. 2019 May 29;8(3):25. doi: 10.1167/tvst.8.3.25. eCollection 2019 May.

5.

Correction: 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. 2019 May 30;15(5):e1008190. doi: 10.1371/journal.pgen.1008190. eCollection 2019 May.

6.

Prediction of Causative Genes in Inherited Retinal Disorders from Spectral-Domain Optical Coherence Tomography Utilizing Deep Learning Techniques.

Fujinami-Yokokawa Y, Pontikos N, Yang L, Tsunoda K, Yoshitake K, Iwata T, Miyata H, Fujinami K, Japan Eye Genetics Consortium OBO.

J Ophthalmol. 2019 Apr 9;2019:1691064. doi: 10.1155/2019/1691064. eCollection 2019.

7.

Clinical and molecular characterization of familial exudative vitreoretinopathy associated with microcephaly.

Hull S, Arno G, Ostergaard P, Pontikos N, Robson AG, Webster AR, Hogg CR, Wright GA, Henderson RHH, Martin CA, Jackson AP, Mansour S, Moore AT, Michaelides M.

Am J Ophthalmol. 2019 May 8. pii: S0002-9394(19)30193-X. doi: 10.1016/j.ajo.2019.05.001. [Epub ahead of print]

PMID:
31077665
8.

The utility of massively parallel sequencing for posterior polymorphous corneal dystrophy type 3 molecular diagnosis.

Dudakova L, Evans CJ, Pontikos N, Hafford-Tear NJ, Malinka F, Skalicka P, Horinek A, Munier FL, Voide N, Studeny P, Vanikova L, Kubena T, Rojas Lopez KE, Davidson AE, Hardcastle AJ, Tuft SJ, Liskova P.

Exp Eye Res. 2019 May;182:160-166. doi: 10.1016/j.exer.2019.03.002. Epub 2019 Mar 7.

PMID:
30851240
9.

Unique noncoding variants upstream of PRDM13 are associated with a spectrum of developmental retinal dystrophies including progressive bifocal chorioretinal atrophy.

Silva RS, Arno G, Cipriani V, Pontikos N, Defoort-Dhellemmes S, Kalhoro A, Carss KJ, Raymond FL, Dhaenens CM, Jensen H, Rosenberg T, van Heyningen V, Moore AT, Puech B, Webster AR.

Hum Mutat. 2019 May;40(5):578-587. doi: 10.1002/humu.23715. Epub 2019 Feb 14.

PMID:
30710461
10.

Elevation in Cell Cycle and Protein Metabolism Gene Transcription in Inactive Colonic Tissue From Icelandic Patients With Ulcerative Colitis.

Vinayaga-Pavan M, Frampton M, Pontikos N, Levine AP, Smith PJ, Jonasson JG, Björnsson ES, Segal AW, Smith AM.

Inflamm Bowel Dis. 2019 Jan 10;25(2):317-327. doi: 10.1093/ibd/izy350.

11.

Novel homozygous splicing mutations in ARL2BP cause autosomal recessive retinitis pigmentosa.

Fiorentino A, Yu J, Arno G, Pontikos N, Halford S, Broadgate S, Michaelides M, Carss KJ, Raymond FL, Cheetham ME, Webster AR, Downes SM, Hardcastle AJ; NIHR-BioResource Rare Diseases Consortium; U.K. Inherited Retinal Dystrophy Consortium.

Mol Vis. 2018 Aug 31;24:603-612. eCollection 2018.

12.

Rare coding variant analysis in a large cohort of Ashkenazi Jewish families with inflammatory bowel disease.

Schiff ER, Frampton M, Ben-Yosef N, Avila BE, Semplici F, Pontikos N, Bloom SL, McCartney SA, Vega R, Lovat LB, Wood E, Hart A, Israeli E, Crespi D, Furman MA, Mann S, Murray CD, Segal AW, Levine AP.

Hum Genet. 2018 Sep;137(9):723-734. doi: 10.1007/s00439-018-1927-7. Epub 2018 Aug 22.

13.

Homozygous OB-fold variants in telomere protein TPP1 are associated with dyskeratosis congenita-like phenotypes.

Tummala H, Collopy LC, Walne AJ, Ellison A, Cardoso S, Aksu T, Yarali N, Aslan D, Fikret Akata R, Teo J, Songyang Z, Pontikos N, Fitzgibbon J, Tomita K, Vulliamy T, Dokal I.

Blood. 2018 Sep 20;132(12):1349-1353. doi: 10.1182/blood-2018-03-837799. Epub 2018 Jul 31. No abstract available.

14.

Genome instability is a consequence of transcription deficiency in patients with bone marrow failure harboring biallelic ERCC6L2 variants.

Tummala H, Dokal AD, Walne A, Ellison A, Cardoso S, Amirthasigamanipillai S, Kirwan M, Browne I, Sidhu JK, Rajeeve V, Rio-Machin A, Seraihi AA, Duncombe AS, Jenner M, Smith OP, Enright H, Norton A, Aksu T, Özbek NY, Pontikos N, Cutillas P, Dokal I, Vulliamy T.

Proc Natl Acad Sci U S A. 2018 Jul 24;115(30):7777-7782. doi: 10.1073/pnas.1803275115. Epub 2018 Jul 9.

15.

Whole-genome sequencing reveals a recurrent missense mutation in the Connexin 46 (GJA3) gene causing autosomal-dominant lamellar cataract.

Berry V, Ionides ACW, Pontikos N, Moghul I, Moore AT, Cheetham ME, Michaelides M.

Eye (Lond). 2018 May 1;32:1661-1668. doi: 10.1038/s41433-018-0154-8.

PMID:
29934635
16.

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. Erratum in: PLoS Genet. 2019 May 30;15(5):e1008190.

17.

Ectopic GRHL2 Expression Due to Non-coding Mutations Promotes Cell State Transition and Causes Posterior Polymorphous Corneal Dystrophy 4.

Liskova P, Dudakova L, Evans CJ, Rojas Lopez KE, Pontikos N, Athanasiou D, Jama H, Sach J, Skalicka P, Stranecky V, Kmoch S, Thaung C, Filipec M, Cheetham ME, Davidson AE, Tuft SJ, Hardcastle AJ.

Am J Hum Genet. 2018 Mar 1;102(3):447-459. doi: 10.1016/j.ajhg.2018.02.002.

18.

Functional variants in the LRRK2 gene confer shared effects on risk for Crohn's disease and Parkinson's disease.

Hui KY, Fernandez-Hernandez H, Hu J, Schaffner A, Pankratz N, Hsu NY, Chuang LS, Carmi S, Villaverde N, Li X, Rivas M, Levine AP, Bao X, Labrias PR, Haritunians T, Ruane D, Gettler K, Chen E, Li D, Schiff ER, Pontikos N, Barzilai N, Brant SR, Bressman S, Cheifetz AS, Clark LN, Daly MJ, Desnick RJ, Duerr RH, Katz S, Lencz T, Myers RH, Ostrer H, Ozelius L, Payami H, Peter Y, Rioux JD, Segal AW, Scott WK, Silverberg MS, Vance JM, Ubarretxena-Belandia I, Foroud T, Atzmon G, Pe'er I, Ioannou Y, McGovern DPB, Yue Z, Schadt EE, Cho JH, Peter I.

Sci Transl Med. 2018 Jan 10;10(423). pii: eaai7795. doi: 10.1126/scitranslmed.aai7795.

19.

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.

20.

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
21.

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
22.

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
23.

The Human Salivary Microbiome Is Shaped by Shared Environment Rather than Genetics: Evidence from a Large Family of Closely Related Individuals.

Shaw L, Ribeiro ALR, Levine AP, Pontikos N, Balloux F, Segal AW, Roberts AP, Smith AM.

MBio. 2017 Sep 12;8(5). pii: e01237-17. doi: 10.1128/mBio.01237-17.

24.

Duplication events downstream of IRX1 cause North Carolina macular dystrophy at the MCDR3 locus.

Cipriani V, Silva RS, Arno G, Pontikos N, Kalhoro A, Valeina S, Inashkina I, Audere M, Rutka K, Puech B, Michaelides M, van Heyningen V, Lace B, Webster AR, Moore AT.

Sci Rep. 2017 Aug 8;7(1):7512. doi: 10.1038/s41598-017-06387-6.

25.

Genome-wide linkage and haplotype sharing analysis implicates the MCDR3 locus as a candidate region for a developmental macular disorder in association with digit abnormalities.

Cipriani V, Kalhoro A, Arno G, Silva RS, Pontikos N, Puech V, McClements ME, Hunt DM, van Heyningen V, Michaelides M, Webster AR, Moore AT, Puech B.

Ophthalmic Genet. 2017 Dec;38(6):511-519. doi: 10.1080/13816810.2017.1289544. Epub 2017 Mar 2.

PMID:
28635424
26.

Pheno4J: a gene to phenotype graph database.

Mughal S, Moghul I, Yu J; UKIRDC, Clark T, Gregory DS, Pontikos N.

Bioinformatics. 2017 Oct 15;33(20):3317-3319. doi: 10.1093/bioinformatics/btx397.

PMID:
28633344
27.

Myelodysplasia and liver disease extend the spectrum of RTEL1 related telomeropathies.

Cardoso SR, Ellison ACM, Walne AJ, Cassiman D, Raghavan M, Kishore B, Ancliff P, Rodríguez-Vigil C, Dobbels B, Rio-Machin A, Al Seraihi AFH, Pontikos N, Tummala H, Vulliamy T, Dokal I.

Haematologica. 2017 Aug;102(8):e293-e296. doi: 10.3324/haematol.2017.167056. Epub 2017 May 11. No abstract available.

28.

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
29.

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.

30.

Association of Steroid 5α-Reductase Type 3 Congenital Disorder of Glycosylation With Early-Onset Retinal Dystrophy.

Taylor RL, Arno G, Poulter JA, Khan KN, Morarji J, Hull S, Pontikos N, Rueda Martin A, Smith KR, Ali M, Toomes C, McKibbin M, Clayton-Smith J, Grunewald S, Michaelides M, Moore AT, Hardcastle AJ, Inglehearn CF, Webster AR, Black GC; UK Inherited Retinal Disease Consortium and the 100,000 Genomes Project.

JAMA Ophthalmol. 2017 Apr 1;135(4):339-347. doi: 10.1001/jamaophthalmol.2017.0046.

31.

The Human Phenotype Ontology in 2017.

Köhler S, Vasilevsky NA, Engelstad M, Foster E, McMurry J, Aymé S, Baynam G, Bello SM, Boerkoel CF, Boycott KM, Brudno M, Buske OJ, Chinnery PF, Cipriani V, Connell LE, Dawkins HJ, DeMare LE, Devereau AD, de Vries BB, Firth HV, Freson K, Greene D, Hamosh A, Helbig I, Hum C, Jähn JA, James R, Krause R, F Laulederkind SJ, Lochmüller H, Lyon GJ, Ogishima S, Olry A, Ouwehand WH, Pontikos N, Rath A, Schaefer F, Scott RH, Segal M, Sergouniotis PI, Sever R, Smith CL, Straub V, Thompson R, Turner C, Turro E, Veltman MW, Vulliamy T, Yu J, von Ziegenweidt J, Zankl A, Züchner S, Zemojtel T, Jacobsen JO, Groza T, Smedley D, Mungall CJ, Haendel M, Robinson PN.

Nucleic Acids Res. 2017 Jan 4;45(D1):D865-D876. doi: 10.1093/nar/gkw1039. Epub 2016 Nov 28. Review.

32.

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.

33.

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.

34.

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.

35.

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.

36.

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
37.

Standardizing Flow Cytometry Immunophenotyping Analysis from the Human ImmunoPhenotyping Consortium.

Finak G, Langweiler M, Jaimes M, Malek M, Taghiyar J, Korin Y, Raddassi K, Devine L, Obermoser G, Pekalski ML, Pontikos N, Diaz A, Heck S, Villanova F, Terrazzini N, Kern F, Qian Y, Stanton R, Wang K, Brandes A, Ramey J, Aghaeepour N, Mosmann T, Scheuermann RH, Reed E, Palucka K, Pascual V, Blomberg BB, Nestle F, Nussenblatt RB, Brinkman RR, Gottardo R, Maecker H, McCoy JP.

Sci Rep. 2016 Feb 10;6:20686. doi: 10.1038/srep20686.

38.

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.

39.

Dissection of a Complex Disease Susceptibility Region Using a Bayesian Stochastic Search Approach to Fine Mapping.

Wallace C, Cutler AJ, Pontikos N, Pekalski ML, Burren OS, Cooper JD, García AR, Ferreira RC, Guo H, Walker NM, Smyth DJ, Rich SS, Onengut-Gumuscu S, Sawcer SJ, Ban M, Richardson S, Todd JA, Wicker LS.

PLoS Genet. 2015 Jun 24;11(6):e1005272. doi: 10.1371/journal.pgen.1005272. eCollection 2015 Jun.

40.

A hybrid qPCR/SNP array approach allows cost efficient assessment of KIR gene copy numbers in large samples.

Pontikos N, Smyth DJ, Schuilenburg H, Howson JM, Walker NM, Burren OS, Guo H, Onengut-Gumuscu S, Chen WM, Concannon P, Rich SS, Jayaraman J, Jiang W, Traherne JA, Trowsdale J, Todd JA, Wallace C.

BMC Genomics. 2014 Apr 11;15:274. doi: 10.1186/1471-2164-15-274.

Supplemental Content

Loading ...
Support Center