243 related articles for article (PubMed ID: 26251150)
1. [Genetic analysis of hereditary hematological disorders: overview].
Yoshida K; Ogawa S
Rinsho Ketsueki; 2015 Jul; 56(7):861-6. PubMed ID: 26251150
[TBL] [Abstract][Full Text] [Related]
2. Utility of next-generation sequencing technologies for the efficient genetic resolution of haematological disorders.
Zhang J; Barbaro P; Guo Y; Alodaib A; Li J; Gold W; Adès L; Keating BJ; Xu X; Teo J; Hakonarson H; Christodoulou J
Clin Genet; 2016 Feb; 89(2):163-72. PubMed ID: 25703294
[TBL] [Abstract][Full Text] [Related]
3. Next-generation sequencing using a pre-designed gene panel for the molecular diagnosis of congenital disorders in pediatric patients.
Lim EC; Brett M; Lai AH; Lee SP; Tan ES; Jamuar SS; Ng IS; Tan EC
Hum Genomics; 2015 Dec; 9():33. PubMed ID: 26666243
[TBL] [Abstract][Full Text] [Related]
4. Comparison of Exome and Genome Sequencing Technologies for the Complete Capture of Protein-Coding Regions.
Lelieveld SH; Spielmann M; Mundlos S; Veltman JA; Gilissen C
Hum Mutat; 2015 Aug; 36(8):815-22. PubMed ID: 25973577
[TBL] [Abstract][Full Text] [Related]
5. Clinical sequencing: is WGS the better WES?
Meienberg J; Bruggmann R; Oexle K; Matyas G
Hum Genet; 2016 Mar; 135(3):359-62. PubMed ID: 26742503
[TBL] [Abstract][Full Text] [Related]
6. Whole-exome sequencing and its impact in hereditary hearing loss.
Atik T; Bademci G; Diaz-Horta O; Blanton SH; Tekin M
Genet Res (Camb); 2015 Mar; 97():e4. PubMed ID: 25825321
[TBL] [Abstract][Full Text] [Related]
7. Replicate exome-sequencing in a multiple-generation family: improved interpretation of next-generation sequencing data.
Cherukuri PF; Maduro V; Fuentes-Fajardo KV; Lam K; ; Adams DR; Tifft CJ; Mullikin JC; Gahl WA; Boerkoel CF
BMC Genomics; 2015 Nov; 16():998. PubMed ID: 26602380
[TBL] [Abstract][Full Text] [Related]
8. Archived neonatal dried blood spot samples can be used for accurate whole genome and exome-targeted next-generation sequencing.
Hollegaard MV; Grauholm J; Nielsen R; Grove J; Mandrup S; Hougaard DM
Mol Genet Metab; 2013; 110(1-2):65-72. PubMed ID: 23830478
[TBL] [Abstract][Full Text] [Related]
9. What can exome sequencing do for you?
Majewski J; Schwartzentruber J; Lalonde E; Montpetit A; Jabado N
J Med Genet; 2011 Sep; 48(9):580-9. PubMed ID: 21730106
[TBL] [Abstract][Full Text] [Related]
10. Exome sequencing: capture and sequencing of all human coding regions for disease gene discovery.
Priya RR; Rajasimha HK; Brooks MJ; Swaroop A
Methods Mol Biol; 2012; 884():335-51. PubMed ID: 22688718
[TBL] [Abstract][Full Text] [Related]
11. Molecular diagnostic testing for congenital disorders of glycosylation (CDG): detection rate for single gene testing and next generation sequencing panel testing.
Jones MA; Rhodenizer D; da Silva C; Huff IJ; Keong L; Bean LJ; Coffee B; Collins C; Tanner AK; He M; Hegde MR
Mol Genet Metab; 2013; 110(1-2):78-85. PubMed ID: 23806237
[TBL] [Abstract][Full Text] [Related]
12. Progress in detecting genetic alterations and their association with human disease.
Schwartz CE; Chen CF
J Mol Biol; 2013 Nov; 425(21):3914-8. PubMed ID: 23876707
[TBL] [Abstract][Full Text] [Related]
13. Identification of Disease Susceptibility Alleles in the Next Generation Sequencing Era.
DiStefano JK; Kingsley CB
Methods Mol Biol; 2018; 1706():3-16. PubMed ID: 29423790
[TBL] [Abstract][Full Text] [Related]
14. Targeted next-generation sequencing: a novel diagnostic tool for primary immunodeficiencies.
Nijman IJ; van Montfrans JM; Hoogstraat M; Boes ML; van de Corput L; Renner ED; van Zon P; van Lieshout S; Elferink MG; van der Burg M; Vermont CL; van der Zwaag B; Janson E; Cuppen E; Ploos van Amstel JK; van Gijn ME
J Allergy Clin Immunol; 2014 Feb; 133(2):529-34. PubMed ID: 24139496
[TBL] [Abstract][Full Text] [Related]
15. Exome versus transcriptome sequencing in identifying coding region variants.
Ku CS; Wu M; Cooper DN; Naidoo N; Pawitan Y; Pang B; Iacopetta B; Soong R
Expert Rev Mol Diagn; 2012 Apr; 12(3):241-51. PubMed ID: 22468815
[TBL] [Abstract][Full Text] [Related]
16. [Genome sequencing and personalized medicine: perspectives and limitations].
Le Gall JY; Debré P;
Bull Acad Natl Med; 2014 Jan; 198(1):101-17. PubMed ID: 26259290
[TBL] [Abstract][Full Text] [Related]
17. 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]
18. A combination of targeted enrichment methodologies for whole-exome sequencing reveals novel pathogenic mutations.
Miya F; Kato M; Shiohama T; Okamoto N; Saitoh S; Yamasaki M; Shigemizu D; Abe T; Morizono T; Boroevich KA; Kosaki K; Kanemura Y; Tsunoda T
Sci Rep; 2015 Mar; 5():9331. PubMed ID: 25786579
[TBL] [Abstract][Full Text] [Related]
19. Molecular defects identified by whole exome sequencing in a child with atypical mucopolysaccharidosis IIIB.
Zeng Q; Fan Y; Wang L; Huang Z; Gu X; Yu Y
J Pediatr Endocrinol Metab; 2017 Apr; 30(4):463-469. PubMed ID: 28306536
[TBL] [Abstract][Full Text] [Related]
20. Use of whole exome and genome sequencing in the identification of genetic causes of primary immunodeficiencies.
Chou J; Ohsumi TK; Geha RS
Curr Opin Allergy Clin Immunol; 2012 Dec; 12(6):623-8. PubMed ID: 23095910
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
