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Results: 1 to 20 of 343

1.

Immunofluorescence Analysis and Diagnosis of Primary Ciliary Dyskinesia with Radial Spoke Defects.

Frommer A, Hjeij R, Loges NT, Edelbusch C, Jahnke C, Raidt J, Werner C, Wallmeier J, Große-Onnebrink J, Olbrich H, Cindrić S, Jaspers M, Boon M, Memari Y, Durbin R, Kolb-Kokocinski A, Sauer S, Marthin JK, Nielsen KG, Amirav I, Elias N, Eitan K, Shoseyov D, Haeffner K, Omran H.

Am J Respir Cell Mol Biol. 2015 Mar 19. [Epub ahead of print]

PMID:
25789548
2.

Pathway Based Factor Analysis of Gene Expression Data Produces Highly Heritable Phenotypes that Associate with Age.

Brown A, Ding Z, Viñuela A, Glass D, Parts L, Spector T, Winn J, Durbin R.

G3 (Bethesda). 2015 Mar 9. pii: g3.114.011411. doi: 10.1534/g3.114.011411. [Epub ahead of print]

3.

Whole-genome sequence-based analysis of thyroid function.

Taylor PN, Porcu E, Chew S, Campbell PJ, Traglia M, Brown SJ, Mullin BH, Shihab HA, Min J, Walter K, Memari Y, Huang J, Barnes MR, Beilby JP, Charoen P, Danecek P, Dudbridge F, Forgetta V, Greenwood C, Grundberg E, Johnson AD, Hui J, Lim EM, McCarthy S, Muddyman D, Panicker V, Perry JR, Bell JT, Yuan W, Relton C, Gaunt T, Schlessinger D, Abecasis G, Cucca F, Surdulescu GL, Woltersdorf W, Zeggini E, Zheng HF, Toniolo D, Dayan CM, Naitza S, Walsh JP, Spector T, Davey Smith G, Durbin R, Brent Richards J, Sanna S, Soranzo N, Timpson NJ, Wilson SG; UK0K Consortium.

Nat Commun. 2015 Mar 6;6:5681. doi: 10.1038/ncomms6681.

PMID:
25743335
4.

The genomic and phenotypic diversity of Schizosaccharomyces pombe.

Jeffares DC, Rallis C, Rieux A, Speed D, Převorovský M, Mourier T, Marsellach FX, Iqbal Z, Lau W, Cheng TM, Pracana R, Mülleder M, Lawson JL, Chessel A, Bala S, Hellenthal G, O'Fallon B, Keane T, Simpson JT, Bischof L, Tomiczek B, Bitton DA, Sideri T, Codlin S, Hellberg JE, van Trigt L, Jeffery L, Li JJ, Atkinson S, Thodberg M, Febrer M, McLay K, Drou N, Brown W, Hayles J, Carazo Salas RE, Ralser M, Maniatis N, Balding DJ, Balloux F, Durbin R, Bähler J.

Nat Genet. 2015 Mar;47(3):235-41. doi: 10.1038/ng.3215. Epub 2015 Feb 9.

PMID:
25665008
5.

Extending reference assembly models.

Church DM, Schneider VA, Steinberg KM, Schatz MC, Quinlan AR, Chin CS, Kitts PA, Aken B, Marth GT, Hoffman MM, Herrero J, Mendoza ML, Durbin R, Flicek P.

Genome Biol. 2015 Jan 24;16:13. doi: 10.1186/s13059-015-0587-3.

6.

Gene-gene and gene-environment interactions detected by transcriptome sequence analysis in twins.

Buil A, Brown AA, Lappalainen T, Viñuela A, Davies MN, Zheng HF, Richards JB, Glass D, Small KS, Durbin R, Spector TD, Dermitzakis ET.

Nat Genet. 2015 Jan;47(1):88-91. doi: 10.1038/ng.3162. Epub 2014 Dec 1.

7.

Quantitative genetics of CTCF binding reveal local sequence effects and different modes of X-chromosome association.

Ding Z, Ni Y, Timmer SW, Lee BK, Battenhouse A, Louzada S, Yang F, Dunham I, Crawford GE, Lieb JD, Durbin R, Iyer VR, Birney E.

PLoS Genet. 2014 Nov 20;10(11):e1004798. doi: 10.1371/journal.pgen.1004798. eCollection 2014 Nov.

8.

Estimation of epistatic variance components and heritability in founder populations and crosses.

Young AI, Durbin R.

Genetics. 2014 Dec;198(4):1405-16. doi: 10.1534/genetics.114.170795. Epub 2014 Oct 17.

9.

A rare variant in APOC3 is associated with plasma triglyceride and VLDL levels in Europeans.

Timpson NJ, Walter K, Min JL, Tachmazidou I, Malerba G, Shin SY, Chen L, Futema M, Southam L, Iotchkova V, Cocca M, Huang J, Memari Y, McCarthy S, Danecek P, Muddyman D, Mangino M, Menni C, Perry JR, Ring SM, Gaye A, Dedoussis G, Farmaki AE, Burton P, Talmud PJ, Gambaro G, Spector TD, Smith GD, Durbin R, Richards JB, Humphries SE, Zeggini E, Soranzo N; UK1OK Consortium Members; UK1OK Consortium Members.

Nat Commun. 2014 Sep 16;5:4871. doi: 10.1038/ncomms5871.

10.

Distribution and medical impact of loss-of-function variants in the Finnish founder population.

Lim ET, Würtz P, Havulinna AS, Palta P, Tukiainen T, Rehnström K, Esko T, Mägi R, Inouye M, Lappalainen T, Chan Y, Salem RM, Lek M, Flannick J, Sim X, Manning A, Ladenvall C, Bumpstead S, Hämäläinen E, Aalto K, Maksimow M, Salmi M, Blankenberg S, Ardissino D, Shah S, Horne B, McPherson R, Hovingh GK, Reilly MP, Watkins H, Goel A, Farrall M, Girelli D, Reiner AP, Stitziel NO, Kathiresan S, Gabriel S, Barrett JC, Lehtimäki T, Laakso M, Groop L, Kaprio J, Perola M, McCarthy MI, Boehnke M, Altshuler DM, Lindgren CM, Hirschhorn JN, Metspalu A, Freimer NB, Zeller T, Jalkanen S, Koskinen S, Raitakari O, Durbin R, MacArthur DG, Salomaa V, Ripatti S, Daly MJ, Palotie A; Sequencing Initiative Suomi (SISu) Project.

PLoS Genet. 2014 Jul 31;10(7):e1004494. doi: 10.1371/journal.pgen.1004494. eCollection 2014 Jul.

11.

Human genomic regions with exceptionally high levels of population differentiation identified from 911 whole-genome sequences.

Colonna V, Ayub Q, Chen Y, Pagani L, Luisi P, Pybus M, Garrison E, Xue Y, Tyler-Smith C; 1000 Genomes Project Consortium, Abecasis GR, Auton A, Brooks LD, DePristo MA, Durbin RM, Handsaker RE, Kang HM, Marth GT, McVean GA.

Genome Biol. 2014 Jun 30;15(6):R88. doi: 10.1186/gb-2014-15-6-r88.

12.

Inferring human population size and separation history from multiple genome sequences.

Schiffels S, Durbin R.

Nat Genet. 2014 Aug;46(8):919-25. doi: 10.1038/ng.3015. Epub 2014 Jun 22.

13.

Genetic interactions affecting human gene expression identified by variance association mapping.

Brown AA, Buil A, Viñuela A, Lappalainen T, Zheng HF, Richards JB, Small KS, Spector TD, Dermitzakis ET, Durbin R.

Elife. 2014 Apr 25;3:e01381. doi: 10.7554/eLife.01381.

14.

Estimating telomere length from whole genome sequence data.

Ding Z, Mangino M, Aviv A, Spector T, Durbin R; UK10K Consortium.

Nucleic Acids Res. 2014 May;42(9):e75. doi: 10.1093/nar/gku181. Epub 2014 Mar 7.

15.

A high-definition view of functional genetic variation from natural yeast genomes.

Bergström A, Simpson JT, Salinas F, Barré B, Parts L, Zia A, Nguyen Ba AN, Moses AM, Louis EJ, Mustonen V, Warringer J, Durbin R, Liti G.

Mol Biol Evol. 2014 Apr;31(4):872-88. doi: 10.1093/molbev/msu037. Epub 2014 Jan 14.

16.

Managing clinically significant findings in research: the UK10K example.

Kaye J, Hurles M, Griffin H, Grewal J, Bobrow M, Timpson N, Smee C, Bolton P, Durbin R, Dyke S, Fitzpatrick D, Kennedy K, Kent A, Muddyman D, Muntoni F, Raymond LF, Semple R, Spector T; UK 10K.

Eur J Hum Genet. 2014 Sep;22(9):1100-4. doi: 10.1038/ejhg.2013.290. Epub 2014 Jan 15.

17.

Efficient haplotype matching and storage using the positional Burrows-Wheeler transform (PBWT).

Durbin R.

Bioinformatics. 2014 May 1;30(9):1266-72. doi: 10.1093/bioinformatics/btu014. Epub 2014 Jan 9.

18.

The anatomy of successful computational biology software.

Altschul S, Demchak B, Durbin R, Gentleman R, Krzywinski M, Li H, Nekrutenko A, Robinson J, Rasband W, Taylor J, Trapnell C.

Nat Biotechnol. 2013 Oct;31(10):894-7. doi: 10.1038/nbt.2721. No abstract available.

19.

High-resolution mapping of complex traits with a four-parent advanced intercross yeast population.

Cubillos FA, Parts L, Salinas F, Bergström A, Scovacricchi E, Zia A, Illingworth CJ, Mustonen V, Ibstedt S, Warringer J, Louis EJ, Durbin R, Liti G.

Genetics. 2013 Nov;195(3):1141-55. doi: 10.1534/genetics.113.155515. Epub 2013 Sep 13.

20.

Interferon induction and function at the mucosal surface.

Durbin RK, Kotenko SV, Durbin JE.

Immunol Rev. 2013 Sep;255(1):25-39. doi: 10.1111/imr.12101. Review.

PMID:
23947345
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