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Results: 1 to 20 of 43

1.

Autosomal-dominant retinitis pigmentosa caused by a mutation in SNRNP200, a gene required for unwinding of U4/U6 snRNAs.

Zhao C, Bellur DL, Lu S, Zhao F, Grassi MA, Bowne SJ, Sullivan LS, Daiger SP, Chen LJ, Pang CP, Zhao K, Staley JP, Larsson C.

Am J Hum Genet. 2009 Nov;85(5):617-27. doi: 10.1016/j.ajhg.2009.09.020. Epub 2009 Oct 29.

PMID:
19878916
[PubMed - indexed for MEDLINE]
Free PMC Article
2.

Targeted capture and massively parallel sequencing of 12 human exomes.

Ng SB, Turner EH, Robertson PD, Flygare SD, Bigham AW, Lee C, Shaffer T, Wong M, Bhattacharjee A, Eichler EE, Bamshad M, Nickerson DA, Shendure J.

Nature. 2009 Sep 10;461(7261):272-6. doi: 10.1038/nature08250. Epub 2009 Aug 16.

PMID:
19684571
[PubMed - indexed for MEDLINE]
Free PMC Article
3.

Sequence and structural variation in a human genome uncovered by short-read, massively parallel ligation sequencing using two-base encoding.

McKernan KJ, Peckham HE, Costa GL, McLaughlin SF, Fu Y, Tsung EF, Clouser CR, Duncan C, Ichikawa JK, Lee CC, Zhang Z, Ranade SS, Dimalanta ET, Hyland FC, Sokolsky TD, Zhang L, Sheridan A, Fu H, Hendrickson CL, Li B, Kotler L, Stuart JR, Malek JA, Manning JM, Antipova AA, Perez DS, Moore MP, Hayashibara KC, Lyons MR, Beaudoin RE, Coleman BE, Laptewicz MW, Sannicandro AE, Rhodes MD, Gottimukkala RK, Yang S, Bafna V, Bashir A, MacBride A, Alkan C, Kidd JM, Eichler EE, Reese MG, De La Vega FM, Blanchard AP.

Genome Res. 2009 Sep;19(9):1527-41. doi: 10.1101/gr.091868.109. Epub 2009 Jun 22.

PMID:
19546169
[PubMed - indexed for MEDLINE]
Free PMC Article
4.

VarScan: variant detection in massively parallel sequencing of individual and pooled samples.

Koboldt DC, Chen K, Wylie T, Larson DE, McLellan MD, Mardis ER, Weinstock GM, Wilson RK, Ding L.

Bioinformatics. 2009 Sep 1;25(17):2283-5. doi: 10.1093/bioinformatics/btp373. Epub 2009 Jun 19.

PMID:
19542151
[PubMed - indexed for MEDLINE]
Free PMC Article
5.

Mutations in a BTB-Kelch protein, KLHL7, cause autosomal-dominant retinitis pigmentosa.

Friedman JS, Ray JW, Waseem N, Johnson K, Brooks MJ, Hugosson T, Breuer D, Branham KE, Krauth DS, Bowne SJ, Sullivan LS, Ponjavic V, Gränse L, Khanna R, Trager EH, Gieser LM, Hughbanks-Wheaton D, Cojocaru RI, Ghiasvand NM, Chakarova CF, Abrahamson M, Göring HH, Webster AR, Birch DG, Abecasis GR, Fann Y, Bhattacharya SS, Daiger SP, Heckenlively JR, Andréasson S, Swaroop A.

Am J Hum Genet. 2009 Jun;84(6):792-800. doi: 10.1016/j.ajhg.2009.05.007.

PMID:
19520207
[PubMed - indexed for MEDLINE]
Free PMC Article
6.

Ultrafast and memory-efficient alignment of short DNA sequences to the human genome.

Langmead B, Trapnell C, Pop M, Salzberg SL.

Genome Biol. 2009;10(3):R25. doi: 10.1186/gb-2009-10-3-r25. Epub 2009 Mar 4.

PMID:
19261174
[PubMed - indexed for MEDLINE]
Free PMC Article
7.

Leber congenital amaurosis: genes, proteins and disease mechanisms.

den Hollander AI, Roepman R, Koenekoop RK, Cremers FP.

Prog Retin Eye Res. 2008 Jul;27(4):391-419. doi: 10.1016/j.preteyeres.2008.05.003. Epub 2008 Jun 1. Review.

PMID:
18632300
[PubMed - indexed for MEDLINE]
8.

Mutations in the TOPORS gene cause 1% of autosomal dominant retinitis pigmentosa.

Bowne SJ, Sullivan LS, Gire AI, Birch DG, Hughbanks-Wheaton D, Heckenlively JR, Daiger SP.

Mol Vis. 2008 May 19;14:922-7.

PMID:
18509552
[PubMed - indexed for MEDLINE]
Free PMC Article
9.

The complete genome of an individual by massively parallel DNA sequencing.

Wheeler DA, Srinivasan M, Egholm M, Shen Y, Chen L, McGuire A, He W, Chen YJ, Makhijani V, Roth GT, Gomes X, Tartaro K, Niazi F, Turcotte CL, Irzyk GP, Lupski JR, Chinault C, Song XZ, Liu Y, Yuan Y, Nazareth L, Qin X, Muzny DM, Margulies M, Weinstock GM, Gibbs RA, Rothberg JM.

Nature. 2008 Apr 17;452(7189):872-6. doi: 10.1038/nature06884.

PMID:
18421352
[PubMed - indexed for MEDLINE]
10.

The human retinitis pigmentosa GTPase regulator gene variant database.

Shu X, McDowall E, Brown AF, Wright AF.

Hum Mutat. 2008 May;29(5):605-8. doi: 10.1002/humu.20733.

PMID:
18361418
[PubMed - indexed for MEDLINE]
11.

The Gly56Arg mutation in NR2E3 accounts for 1-2% of autosomal dominant retinitis pigmentosa.

Gire AI, Sullivan LS, Bowne SJ, Birch DG, Hughbanks-Wheaton D, Heckenlively JR, Daiger SP.

Mol Vis. 2007 Oct 17;13:1970-5.

PMID:
17982421
[PubMed - indexed for MEDLINE]
Free Article
12.

Microarray-based genomic selection for high-throughput resequencing.

Okou DT, Steinberg KM, Middle C, Cutler DJ, Albert TJ, Zwick ME.

Nat Methods. 2007 Nov;4(11):907-9. Epub 2007 Oct 14.

PMID:
17934469
[PubMed - indexed for MEDLINE]
13.

Direct selection of human genomic loci by microarray hybridization.

Albert TJ, Molla MN, Muzny DM, Nazareth L, Wheeler D, Song X, Richmond TA, Middle CM, Rodesch MJ, Packard CJ, Weinstock GM, Gibbs RA.

Nat Methods. 2007 Nov;4(11):903-5. Epub 2007 Oct 14.

PMID:
17934467
[PubMed - indexed for MEDLINE]
14.

Perspective on genes and mutations causing retinitis pigmentosa.

Daiger SP, Bowne SJ, Sullivan LS.

Arch Ophthalmol. 2007 Feb;125(2):151-8. Review.

PMID:
17296890
[PubMed - indexed for MEDLINE]
Free PMC Article
15.

Prevalence of retinitis pigmentosa in urban and rural adult Chinese: The Beijing Eye Study.

Xu L, Hu L, Ma K, Li J, Jonas JB.

Eur J Ophthalmol. 2006 Nov-Dec;16(6):865-6.

PMID:
17191195
[PubMed - indexed for MEDLINE]
16.

Genomic rearrangements of the PRPF31 gene account for 2.5% of autosomal dominant retinitis pigmentosa.

Sullivan LS, Bowne SJ, Seaman CR, Blanton SH, Lewis RA, Heckenlively JR, Birch DG, Hughbanks-Wheaton D, Daiger SP.

Invest Ophthalmol Vis Sci. 2006 Oct;47(10):4579-88.

PMID:
17003455
[PubMed - indexed for MEDLINE]
Free PMC Article
17.

Comprehensive survey of mutations in RP2 and RPGR in patients affected with distinct retinal dystrophies: genotype-phenotype correlations and impact on genetic counseling.

Pelletier V, Jambou M, Delphin N, Zinovieva E, Stum M, Gigarel N, Dollfus H, Hamel C, Toutain A, Dufier JL, Roche O, Munnich A, Bonnefont JP, Kaplan J, Rozet JM.

Hum Mutat. 2007 Jan;28(1):81-91.

PMID:
16969763
[PubMed - indexed for MEDLINE]
18.

Prevalence of disease-causing mutations in families with autosomal dominant retinitis pigmentosa: a screen of known genes in 200 families.

Sullivan LS, Bowne SJ, Birch DG, Hughbanks-Wheaton D, Heckenlively JR, Lewis RA, Garcia CA, Ruiz RS, Blanton SH, Northrup H, Gire AI, Seaman R, Duzkale H, Spellicy CJ, Zhu J, Shankar SP, Daiger SP.

Invest Ophthalmol Vis Sci. 2006 Jul;47(7):3052-64.

PMID:
16799052
[PubMed - indexed for MEDLINE]
Free PMC Article
19.

Defining the human macula transcriptome and candidate retinal disease genes using EyeSAGE.

Bowes Rickman C, Ebright JN, Zavodni ZJ, Yu L, Wang T, Daiger SP, Wistow G, Boon K, Hauser MA.

Invest Ophthalmol Vis Sci. 2006 Jun;47(6):2305-16.

PMID:
16723438
[PubMed - indexed for MEDLINE]
Free PMC Article
20.

Spectrum and frequency of mutations in IMPDH1 associated with autosomal dominant retinitis pigmentosa and leber congenital amaurosis.

Bowne SJ, Sullivan LS, Mortimer SE, Hedstrom L, Zhu J, Spellicy CJ, Gire AI, Hughbanks-Wheaton D, Birch DG, Lewis RA, Heckenlively JR, Daiger SP.

Invest Ophthalmol Vis Sci. 2006 Jan;47(1):34-42.

PMID:
16384941
[PubMed - indexed for MEDLINE]
Free PMC Article

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