171 related articles for article (PubMed ID: 24130329)
1. Rapid identification of kidney cyst mutations by whole exome sequencing in zebrafish.
Ryan S; Willer J; Marjoram L; Bagwell J; Mankiewicz J; Leshchiner I; Goessling W; Bagnat M; Katsanis N
Development; 2013 Nov; 140(21):4445-51. PubMed ID: 24130329
[TBL] [Abstract][Full Text] [Related]
2. Perspectives for identification of mutations in the zebrafish: making use of next-generation sequencing technologies for forward genetic approaches.
Henke K; Bowen ME; Harris MP
Methods; 2013 Aug; 62(3):185-96. PubMed ID: 23748111
[TBL] [Abstract][Full Text] [Related]
3. Coupled mutagenesis screens and genetic mapping in zebrafish.
Rawls JF; Frieda MR; McAdow AR; Gross JP; Clayton CM; Heyen CK; Johnson SL
Genetics; 2003 Mar; 163(3):997-1009. PubMed ID: 12663538
[TBL] [Abstract][Full Text] [Related]
4. Genome-wide linkage, exome sequencing and functional analyses identify ABCB6 as the pathogenic gene of dyschromatosis universalis hereditaria.
Liu H; Li Y; Hung KK; Wang N; Wang C; Chen X; Sheng D; Fu X; See K; Foo JN; Low H; Liany H; Irwan ID; Liu J; Yang B; Chen M; Yu Y; Yu G; Niu G; You J; Zhou Y; Ma S; Wang T; Yan X; Goh BK; Common JE; Lane BE; Sun Y; Zhou G; Lu X; Wang Z; Tian H; Cao Y; Chen S; Liu Q; Liu J; Zhang F
PLoS One; 2014; 9(2):e87250. PubMed ID: 24498303
[TBL] [Abstract][Full Text] [Related]
5. Identification of mutations in zebrafish using next-generation sequencing.
Henke K; Bowen ME; Harris MP
Curr Protoc Mol Biol; 2013 Oct; 104():7.13.1-7.13.33. PubMed ID: 24510885
[TBL] [Abstract][Full Text] [Related]
6. Rapid positional cloning of zebrafish mutations by linkage and homozygosity mapping using whole-genome sequencing.
Obholzer N; Swinburne IA; Schwab E; Nechiporuk AV; Nicolson T; Megason SG
Development; 2012 Nov; 139(22):4280-90. PubMed ID: 23052906
[TBL] [Abstract][Full Text] [Related]
7. Genetic screens for mutations affecting adult traits and parental-effect genes.
Pelegri F; Mullins MC
Methods Cell Biol; 2016; 135():39-87. PubMed ID: 27443920
[TBL] [Abstract][Full Text] [Related]
8. 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. PubMed ID: 22832387
[TBL] [Abstract][Full Text] [Related]
9. Whole Genome Sequencing-Based Mapping and Candidate Identification of Mutations from Fixed Zebrafish Tissue.
Sanchez NE; Harty BL; O'Reilly-Pol T; Ackerman SD; Herbert AL; Holmgren M; Johnson SL; Gray RS; Monk KR
G3 (Bethesda); 2017 Oct; 7(10):3415-3425. PubMed ID: 28855284
[TBL] [Abstract][Full Text] [Related]
10. 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. PubMed ID: 22555591
[TBL] [Abstract][Full Text] [Related]
11. A systematic genome-wide analysis of zebrafish protein-coding gene function.
Kettleborough RN; Busch-Nentwich EM; Harvey SA; Dooley CM; de Bruijn E; van Eeden F; Sealy I; White RJ; Herd C; Nijman IJ; Fényes F; Mehroke S; Scahill C; Gibbons R; Wali N; Carruthers S; Hall A; Yen J; Cuppen E; Stemple DL
Nature; 2013 Apr; 496(7446):494-7. PubMed ID: 23594742
[TBL] [Abstract][Full Text] [Related]
12. Exome sequencing greatly expedites the progressive research of Mendelian diseases.
Zhang X
Front Med; 2014 Mar; 8(1):42-57. PubMed ID: 24384736
[TBL] [Abstract][Full Text] [Related]
13. Whole exome sequencing coupled with unbiased functional analysis reveals new Hirschsprung disease genes.
Gui H; Schriemer D; Cheng WW; Chauhan RK; Antiňolo G; Berrios C; Bleda M; Brooks AS; Brouwer RW; Burns AJ; Cherny SS; Dopazo J; Eggen BJ; Griseri P; Jalloh B; Le TL; Lui VC; Luzón-Toro B; Matera I; Ngan ES; Pelet A; Ruiz-Ferrer M; Sham PC; Shepherd IT; So MT; Sribudiani Y; Tang CS; van den Hout MC; van der Linde HC; van Ham TJ; van IJcken WF; Verheij JB; Amiel J; Borrego S; Ceccherini I; Chakravarti A; Lyonnet S; Tam PK; Garcia-Barceló MM; Hofstra RM
Genome Biol; 2017 Mar; 18(1):48. PubMed ID: 28274275
[TBL] [Abstract][Full Text] [Related]
14. Whole exome sequencing combined with integrated variant annotation prediction identifies asymptomatic Tangier disease with compound heterozygous mutations in ABCA1 gene.
Tada H; Kawashiri MA; Nohara A; Saito R; Tanaka Y; Nomura A; Konno T; Sakata K; Fujino N; Takamura T; Inazu A; Mabuchi H; Yamagishi M; Hayashi K
Atherosclerosis; 2015 Jun; 240(2):324-9. PubMed ID: 25875382
[TBL] [Abstract][Full Text] [Related]
15. Whole-exome sequencing efficiently detects rare mutations in autosomal recessive nonsyndromic hearing loss.
Diaz-Horta O; Duman D; Foster J; Sırmacı A; Gonzalez M; Mahdieh N; Fotouhi N; Bonyadi M; Cengiz FB; Menendez I; Ulloa RH; Edwards YJ; Züchner S; Blanton S; Tekin M
PLoS One; 2012; 7(11):e50628. PubMed ID: 23226338
[TBL] [Abstract][Full Text] [Related]
16. Whole-exome sequencing for mutation detection in pediatric disorders of insulin secretion: Maturity onset diabetes of the young and congenital hyperinsulinism.
Johnson SR; Leo PJ; McInerney-Leo AM; Anderson LK; Marshall M; McGown I; Newell F; Brown MA; Conwell LS; Harris M; Duncan EL
Pediatr Diabetes; 2018 Jun; 19(4):656-662. PubMed ID: 29417725
[TBL] [Abstract][Full Text] [Related]
17. Using next-generation sequencing to isolate mutant genes from forward genetic screens.
Schneeberger K
Nat Rev Genet; 2014 Oct; 15(10):662-76. PubMed ID: 25139187
[TBL] [Abstract][Full Text] [Related]
18. Whole exome sequencing is an efficient, sensitive and specific method for determining the genetic cause of short-rib thoracic dystrophies.
McInerney-Leo AM; Harris JE; Leo PJ; Marshall MS; Gardiner B; Kinning E; Leong HY; McKenzie F; Ong WP; Vodopiutz J; Wicking C; Brown MA; Zankl A; Duncan EL
Clin Genet; 2015 Dec; 88(6):550-7. PubMed ID: 25492405
[TBL] [Abstract][Full Text] [Related]
19. Exome sequencing covers >98% of mutations identified on targeted next generation sequencing panels.
LaDuca H; Farwell KD; Vuong H; Lu HM; Mu W; Shahmirzadi L; Tang S; Chen J; Bhide S; Chao EC
PLoS One; 2017; 12(2):e0170843. PubMed ID: 28152038
[TBL] [Abstract][Full Text] [Related]
20. Whole-exome sequencing identifies novel compound heterozygous mutations in USH2A in Spanish patients with autosomal recessive retinitis pigmentosa.
Méndez-Vidal C; González-Del Pozo M; Vela-Boza A; Santoyo-López J; López-Domingo FJ; Vázquez-Marouschek C; Dopazo J; Borrego S; Antiñolo G
Mol Vis; 2013; 19():2187-95. PubMed ID: 24227914
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
