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Results: 1 to 20 of 148

1.

Reducing the exome search space for mendelian diseases using genetic linkage analysis of exome genotypes.

Smith KR, Bromhead CJ, Hildebrand MS, Shearer AE, Lockhart PJ, Najmabadi H, Leventer RJ, McGillivray G, Amor DJ, Smith RJ, Bahlo M.

Genome Biol. 2011 Sep 14;12(9):R85. doi: 10.1186/gb-2011-12-9-r85.

PMID:
21917141
[PubMed - indexed for MEDLINE]
Free PMC Article
2.

Next-generation sequencing: impact of exome sequencing in characterizing Mendelian disorders.

Rabbani B, Mahdieh N, Hosomichi K, Nakaoka H, Inoue I.

J Hum Genet. 2012 Oct;57(10):621-32. doi: 10.1038/jhg.2012.91. Epub 2012 Jul 26. Review.

PMID:
22832387
[PubMed - indexed for MEDLINE]
3.

Autozygosity mapping with exome sequence data.

Carr IM, Bhaskar S, O'Sullivan J, Aldahmesh MA, Shamseldin HE, Markham AF, Bonthron DT, Black G, Alkuraya FS.

Hum Mutat. 2013 Jan;34(1):50-6. doi: 10.1002/humu.22220. Epub 2012 Oct 22.

PMID:
23090942
[PubMed - indexed for MEDLINE]
4.

Unlocking Mendelian disease using exome sequencing.

Gilissen C, Hoischen A, Brunner HG, Veltman JA.

Genome Biol. 2011 Sep 14;12(9):228. doi: 10.1186/gb-2011-12-9-228. Review.

PMID:
21920049
[PubMed - indexed for MEDLINE]
Free PMC Article
5.

Recombination mapping using Boolean logic and high-density SNP genotyping for exome sequence filtering.

Markello TC, Han T, Carlson-Donohoe H, Ahaghotu C, Harper U, Jones M, Chandrasekharappa S, Anikster Y, Adams DR; NISC Comparative Sequencing Program, Gahl WA, Boerkoel CF.

Mol Genet Metab. 2012 Mar;105(3):382-9. doi: 10.1016/j.ymgme.2011.12.014. Epub 2011 Dec 23.

PMID:
22264778
[PubMed - indexed for MEDLINE]
Free PMC Article
6.

Challenges in whole exome sequencing: an example from hereditary deafness.

Sirmaci A, Edwards YJ, Akay H, Tekin M.

PLoS One. 2012;7(2):e32000. doi: 10.1371/journal.pone.0032000. Epub 2012 Feb 21.

PMID:
22363784
[PubMed - indexed for MEDLINE]
Free PMC Article
7.

Exome-assistant: a rapid and easy detection of disease-related genes and genetic variations from exome sequencing.

Liu Q, Shen E, Min Q, Li X, Wang X, Li X, Sun ZS, Wu J.

BMC Genomics. 2012 Dec 11;13:692. doi: 10.1186/1471-2164-13-692.

PMID:
23231371
[PubMed - indexed for MEDLINE]
Free PMC Article
8.

Exome sequencing identifies potential risk variants for Mendelian disorders at high prevalence in Qatar.

Rodriguez-Flores JL, Fakhro K, Hackett NR, Salit J, Fuller J, Agosto-Perez F, Gharbiah M, Malek JA, Zirie M, Jayyousi A, Badii R, Al-Nabet Al-Marri A, Chouchane L, Stadler DJ, Mezey JG, Crystal RG.

Hum Mutat. 2014 Jan;35(1):105-16. doi: 10.1002/humu.22460. Epub 2013 Nov 10.

PMID:
24123366
[PubMed - indexed for MEDLINE]
9.

The exome factor.

Stower H.

Genome Biol. 2011 Sep 14;12(9):407. doi: 10.1186/gb-2011-12-9-407.

PMID:
21920053
[PubMed - indexed for MEDLINE]
Free PMC Article
10.

Exome-based mapping and variant prioritization for inherited Mendelian disorders.

Koboldt DC, Larson DE, Sullivan LS, Bowne SJ, Steinberg KM, Churchill JD, Buhr AC, Nutter N, Pierce EA, Blanton SH, Weinstock GM, Wilson RK, Daiger SP.

Am J Hum Genet. 2014 Mar 6;94(3):373-84. doi: 10.1016/j.ajhg.2014.01.016. Epub 2014 Feb 20.

PMID:
24560519
[PubMed - indexed for MEDLINE]
Free PMC Article
11.

Exome resequencing combined with linkage analysis identifies novel PTH1R variants in primary failure of tooth eruption in Japanese.

Yamaguchi T, Hosomichi K, Narita A, Shirota T, Tomoyasu Y, Maki K, Inoue I.

J Bone Miner Res. 2011 Jul;26(7):1655-61. doi: 10.1002/jbmr.385.

PMID:
21404329
[PubMed - indexed for MEDLINE]
12.

Combined linkage analysis and exome sequencing identifies novel genes for familial goiter.

Yan J, Takahashi T, Ohura T, Adachi H, Takahashi I, Ogawa E, Okuda H, Kobayashi H, Hitomi T, Liu W, Harada KH, Koizumi A.

J Hum Genet. 2013 Jun;58(6):366-77. doi: 10.1038/jhg.2013.20. Epub 2013 Mar 28.

PMID:
23535966
[PubMed - indexed for MEDLINE]
13.

A comprehensive framework for prioritizing variants in exome sequencing studies of Mendelian diseases.

Li MX, Gui HS, Kwan JS, Bao SY, Sham PC.

Nucleic Acids Res. 2012 Apr;40(7):e53. doi: 10.1093/nar/gkr1257. Epub 2012 Jan 12.

PMID:
22241780
[PubMed - indexed for MEDLINE]
Free PMC Article
14.

Dynamic model based algorithms for screening and genotyping over 100 K SNPs on oligonucleotide microarrays.

Di X, Matsuzaki H, Webster TA, Hubbell E, Liu G, Dong S, Bartell D, Huang J, Chiles R, Yang G, Shen MM, Kulp D, Kennedy GC, Mei R, Jones KW, Cawley S.

Bioinformatics. 2005 May 1;21(9):1958-63. Epub 2005 Jan 18.

PMID:
15657097
[PubMed - indexed for MEDLINE]
Free Article
15.

VAR-MD: a tool to analyze whole exome-genome variants in small human pedigrees with mendelian inheritance.

Sincan M, Simeonov DR, Adams D, Markello TC, Pierson TM, Toro C, Gahl WA, Boerkoel CF.

Hum Mutat. 2012 Apr;33(4):593-8. doi: 10.1002/humu.22034. Epub 2012 Feb 24.

PMID:
22290570
[PubMed - indexed for MEDLINE]
16.

Comprehensive comparison of three commercial human whole-exome capture platforms.

Asan, Xu Y, Jiang H, Tyler-Smith C, Xue Y, Jiang T, Wang J, Wu M, Liu X, Tian G, Wang J, Wang J, Yang H, Zhang X.

Genome Biol. 2011 Sep 28;12(9):R95. doi: 10.1186/gb-2011-12-9-r95.

PMID:
21955857
[PubMed - indexed for MEDLINE]
Free PMC Article
17.

TGM6 identified as a novel causative gene of spinocerebellar ataxias using exome sequencing.

Wang JL, Yang X, Xia K, Hu ZM, Weng L, Jin X, Jiang H, Zhang P, Shen L, Guo JF, Li N, Li YR, Lei LF, Zhou J, Du J, Zhou YF, Pan Q, Wang J, Wang J, Li RQ, Tang BS.

Brain. 2010 Dec;133(Pt 12):3510-8. doi: 10.1093/brain/awq323. Epub 2010 Nov 23.

PMID:
21106500
[PubMed - indexed for MEDLINE]
Free Article
18.

Olorin: combining gene flow with exome sequencing in large family studies of complex disease.

Morris JA, Barrett JC.

Bioinformatics. 2012 Dec 15;28(24):3320-1. doi: 10.1093/bioinformatics/bts609. Epub 2012 Oct 10.

PMID:
23052039
[PubMed - indexed for MEDLINE]
Free PMC Article
19.

Computational and statistical approaches to analyzing variants identified by exome sequencing.

Stitziel NO, Kiezun A, Sunyaev S.

Genome Biol. 2011 Sep 14;12(9):227. doi: 10.1186/gb-2011-12-9-227. Review.

PMID:
21920052
[PubMed - indexed for MEDLINE]
Free PMC Article
20.

Design considerations for genetic linkage and association studies.

Nsengimana J, Bishop DT.

Methods Mol Biol. 2012;850:237-62. doi: 10.1007/978-1-61779-555-8_13.

PMID:
22307702
[PubMed - indexed for MEDLINE]

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