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Results: 1 to 20 of 78

1.

Mutation discovery in mice by whole exome sequencing.

Fairfield H, Gilbert GJ, Barter M, Corrigan RR, Curtain M, Ding Y, D'Ascenzo M, Gerhardt DJ, He C, Huang W, Richmond T, Rowe L, Probst FJ, Bergstrom DE, Murray SA, Bult C, Richardson J, Kile BT, Gut I, Hager J, Sigurdsson S, Mauceli E, Di Palma F, Lindblad-Toh K, Cunningham ML, Cox TC, Justice MJ, Spector MS, Lowe SW, Albert T, Donahue LR, Jeddeloh J, Shendure J, Reinholdt LG.

Genome Biol. 2011 Sep 14;12(9):R86. doi: 10.1186/gb-2011-12-9-r86.

PMID:
21917142
[PubMed - indexed for MEDLINE]
Free PMC Article
2.

Massively parallel sequencing of the mouse exome to accurately identify rare, induced mutations: an immediate source for thousands of new mouse models.

Andrews TD, Whittle B, Field MA, Balakishnan B, Zhang Y, Shao Y, Cho V, Kirk M, Singh M, Xia Y, Hager J, Winslade S, Sjollema G, Beutler B, Enders A, Goodnow CC.

Open Biol. 2012 May;2(5):120061. doi: 10.1098/rsob.120061.

PMID:
22724066
[PubMed - indexed for MEDLINE]
Free PMC Article
3.

Mutation mapping and identification by whole-genome sequencing.

Leshchiner I, Alexa K, Kelsey P, Adzhubei I, Austin-Tse CA, Cooney JD, Anderson H, King MJ, Stottmann RW, Garnaas MK, Ha S, Drummond IA, Paw BH, North TE, Beier DR, Goessling W, Sunyaev SR.

Genome Res. 2012 Aug;22(8):1541-8. doi: 10.1101/gr.135541.111. Epub 2012 May 3.

PMID:
22555591
[PubMed - indexed for MEDLINE]
Free PMC Article
4.

Whole-exome sequencing reveals recurrent somatic mutation networks in cancer.

Liu X, Wang J, Chen L.

Cancer Lett. 2013 Nov 1;340(2):270-6. doi: 10.1016/j.canlet.2012.11.002. Epub 2012 Nov 12. Review.

PMID:
23153794
[PubMed - indexed for MEDLINE]
5.

Comparison of solution-based exome capture methods for next generation sequencing.

Sulonen AM, Ellonen P, Almusa H, Lepistö M, Eldfors S, Hannula S, Miettinen T, Tyynismaa H, Salo P, Heckman C, Joensuu H, Raivio T, Suomalainen A, Saarela J.

Genome Biol. 2011 Sep 28;12(9):R94. doi: 10.1186/gb-2011-12-9-r94.

PMID:
21955854
[PubMed - indexed for MEDLINE]
Free PMC Article
6.

Exome sequencing of senescence-accelerated mice (SAM) reveals deleterious mutations in degenerative disease-causing genes.

Tanisawa K, Mikami E, Fuku N, Honda Y, Honda S, Ohsawa I, Ito M, Endo S, Ihara K, Ohno K, Kishimoto Y, Ishigami A, Maruyama N, Sawabe M, Iseki H, Okazaki Y, Hasegawa-Ishii S, Takei S, Shimada A, Hosokawa M, Mori M, Higuchi K, Takeda T, Higuchi M, Tanaka M.

BMC Genomics. 2013 Apr 15;14:248. doi: 10.1186/1471-2164-14-248.

PMID:
23586671
[PubMed - indexed for MEDLINE]
Free PMC Article
7.

Exon capture and bulk segregant analysis: rapid discovery of causative mutations using high-throughput sequencing.

del Viso F, Bhattacharya D, Kong Y, Gilchrist MJ, Khokha MK.

BMC Genomics. 2012 Nov 21;13:649. doi: 10.1186/1471-2164-13-649.

PMID:
23171430
[PubMed - indexed for MEDLINE]
Free PMC Article
8.

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
9.

Exome sequencing identified MYO1E and NEIL1 as candidate genes for human autosomal recessive steroid-resistant nephrotic syndrome.

Sanna-Cherchi S, Burgess KE, Nees SN, Caridi G, Weng PL, Dagnino M, Bodria M, Carrea A, Allegretta MA, Kim HR, Perry BJ, Gigante M, Clark LN, Kisselev S, Cusi D, Gesualdo L, Allegri L, Scolari F, D'Agati V, Shapiro LS, Pecoraro C, Palomero T, Ghiggeri GM, Gharavi AG.

Kidney Int. 2011 Aug;80(4):389-96. doi: 10.1038/ki.2011.148. Epub 2011 Jun 22.

PMID:
21697813
[PubMed - indexed for MEDLINE]
10.

A novel candidate gene for mouse and human preaxial polydactyly with altered expression in limbs of Hemimelic extra-toes mutant mice.

Clark RM, Marker PC, Kingsley DM.

Genomics. 2000 Jul 1;67(1):19-27.

PMID:
10945466
[PubMed - indexed for MEDLINE]
11.

Whole-exome sequencing for finding de novo mutations in sporadic mental retardation.

Robinson PN.

Genome Biol. 2010;11(12):144. doi: 10.1186/gb-2010-11-12-144. Epub 2010 Dec 21.

PMID:
21172032
[PubMed - indexed for MEDLINE]
Free PMC Article
12.

Unexpected allelic heterogeneity and spectrum of mutations in Fowler syndrome revealed by next-generation exome sequencing.

Lalonde E, Albrecht S, Ha KC, Jacob K, Bolduc N, Polychronakos C, Dechelotte P, Majewski J, Jabado N.

Hum Mutat. 2010 Aug;31(8):918-23. doi: 10.1002/humu.21293.

PMID:
20518025
[PubMed - indexed for MEDLINE]
13.

Whole-exome-sequencing identifies mutations in histone acetyltransferase gene KAT6B in individuals with the Say-Barber-Biesecker variant of Ohdo syndrome.

Clayton-Smith J, O'Sullivan J, Daly S, Bhaskar S, Day R, Anderson B, Voss AK, Thomas T, Biesecker LG, Smith P, Fryer A, Chandler KE, Kerr B, Tassabehji M, Lynch SA, Krajewska-Walasek M, McKee S, Smith J, Sweeney E, Mansour S, Mohammed S, Donnai D, Black G.

Am J Hum Genet. 2011 Nov 11;89(5):675-81. doi: 10.1016/j.ajhg.2011.10.008.

PMID:
22077973
[PubMed - indexed for MEDLINE]
Free PMC Article
14.

Whole human exome capture for high-throughput sequencing.

Kim DW, Nam SH, Kim RN, Choi SH, Park HS.

Genome. 2010 Jul;53(7):568-74. doi: 10.1139/g10-025.

PMID:
20616878
[PubMed - indexed for MEDLINE]
15.

A strategy for direct mapping and identification of mutations by whole-genome sequencing.

Zuryn S, Le Gras S, Jamet K, Jarriault S.

Genetics. 2010 Sep;186(1):427-30. doi: 10.1534/genetics.110.119230. Epub 2010 Jul 6.

PMID:
20610404
[PubMed - indexed for MEDLINE]
Free PMC Article
16.

The ldis1 lens mutation in RIIIS/J mice maps to chromosome 8 near cadherin 1.

Jablonski MM, Lu L, Wang X, Chesler EJ, Carps E, Qi S, Gu J, Williams RW.

Mol Vis. 2004 Aug 23;10:577-87.

PMID:
15343150
[PubMed - indexed for MEDLINE]
Free Article
17.

Whole-exome sequencing of human pancreatic cancers and characterization of genomic instability caused by MLH1 haploinsufficiency and complete deficiency.

Wang L, Tsutsumi S, Kawaguchi T, Nagasaki K, Tatsuno K, Yamamoto S, Sang F, Sonoda K, Sugawara M, Saiura A, Hirono S, Yamaue H, Miki Y, Isomura M, Totoki Y, Nagae G, Isagawa T, Ueda H, Murayama-Hosokawa S, Shibata T, Sakamoto H, Kanai Y, Kaneda A, Noda T, Aburatani H.

Genome Res. 2012 Feb;22(2):208-19. doi: 10.1101/gr.123109.111. Epub 2011 Dec 7.

PMID:
22156295
[PubMed - indexed for MEDLINE]
Free PMC Article
18.

Genomic sequencing reveals the structure of the Kcnk6 and map3k11 genes and their close vicinity to the sipa1 gene on mouse chromosome 19.

Saridaki A, Ferraz C, Demaille J, Scherer G, Roux AF.

Cytogenet Cell Genet. 2000;89(1-2):85-8.

PMID:
10894943
[PubMed - indexed for MEDLINE]
19.

Exome sequencing makes medical genomics a reality.

Biesecker LG.

Nat Genet. 2010 Jan;42(1):13-4. doi: 10.1038/ng0110-13.

PMID:
20037612
[PubMed - indexed for MEDLINE]
20.

Tissue-specific temporal exome capture revealed muscle-specific genes and SNPs in Indian buffalo (Bubalus bubalis).

Jakhesara SJ, Ahir VB, Padiya KB, Koringa PG, Rank DN, Joshi CG.

Genomics Proteomics Bioinformatics. 2012 Apr;10(2):107-13. doi: 10.1016/j.gpb.2012.05.005. Epub 2012 Jun 12.

PMID:
22768984
[PubMed - indexed for MEDLINE]
Free Article

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