222 related articles for article (PubMed ID: 25703294)
1. 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]
2. [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]
3. Loss of function mutations in RPL27 and RPS27 identified by whole-exome sequencing in Diamond-Blackfan anaemia.
Wang R; Yoshida K; Toki T; Sawada T; Uechi T; Okuno Y; Sato-Otsubo A; Kudo K; Kamimaki I; Kanezaki R; Shiraishi Y; Chiba K; Tanaka H; Terui K; Sato T; Iribe Y; Ohga S; Kuramitsu M; Hamaguchi I; Ohara A; Hara J; Goi K; Matsubara K; Koike K; Ishiguro A; Okamoto Y; Watanabe K; Kanno H; Kojima S; Miyano S; Kenmochi N; Ogawa S; Ito E
Br J Haematol; 2015 Mar; 168(6):854-64. PubMed ID: 25424902
[TBL] [Abstract][Full Text] [Related]
4. 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]
5. 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]
6. Copy number alterations detected by whole-exome and whole-genome sequencing of esophageal adenocarcinoma.
Wang X; Li X; Cheng Y; Sun X; Sun X; Self S; Kooperberg C; Dai JY
Hum Genomics; 2015 Sep; 9(1):22. PubMed ID: 26374103
[TBL] [Abstract][Full Text] [Related]
7. Opportunities and challenges of whole-genome and -exome sequencing.
Petersen BS; Fredrich B; Hoeppner MP; Ellinghaus D; Franke A
BMC Genet; 2017 Feb; 18(1):14. PubMed ID: 28193154
[TBL] [Abstract][Full Text] [Related]
8. Implementation of next generation sequencing into pediatric hematology-oncology practice: moving beyond actionable alterations.
Oberg JA; Glade Bender JL; Sulis ML; Pendrick D; Sireci AN; Hsiao SJ; Turk AT; Dela Cruz FS; Hibshoosh H; Remotti H; Zylber RJ; Pang J; Diolaiti D; Koval C; Andrews SJ; Garvin JH; Yamashiro DJ; Chung WK; Emerson SG; Nagy PL; Mansukhani MM; Kung AL
Genome Med; 2016 Dec; 8(1):133. PubMed ID: 28007021
[TBL] [Abstract][Full Text] [Related]
9. Clinical utility in infants with suspected monogenic conditions through next-generation sequencing.
Hong S; Wang L; Zhao D; Zhang Y; Chen Y; Tan J; Liang L; Zhu T
Mol Genet Genomic Med; 2019 Jun; 7(6):e684. PubMed ID: 30968598
[TBL] [Abstract][Full Text] [Related]
10. 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]
11. Molecular diagnosis of unexplained haemolytic anaemia using targeted next-generation sequencing panel revealed (p.Ala337Thr) novel mutation in GPI gene in two Indian patients.
Kedar PS; Gupta V; Dongerdiye R; Chiddarwar A; Warang P; Madkaikar MR
J Clin Pathol; 2019 Jan; 72(1):81-85. PubMed ID: 30337328
[TBL] [Abstract][Full Text] [Related]
12. Design and application of a 23-gene panel by next-generation sequencing for inherited coagulation bleeding disorders.
Bastida JM; Del Rey M; Lozano ML; Sarasquete ME; Benito R; Fontecha ME; Fisac R; García-Frade LJ; Aguilar C; Martínez MP; Pardal E; Aguilera C; Pérez B; Ramos R; Cardesa MR; Martin-Antorán JM; Silvestre LA; Cebeira MJ; Bermejo N; Riesco S; Mendoza MC; García-Sanz R; González-Díaz M; Hernández-Rivas JM; González-Porras JR
Haemophilia; 2016 Jul; 22(4):590-7. PubMed ID: 26879396
[TBL] [Abstract][Full Text] [Related]
13. Molecular defects identified by whole exome sequencing in a child with Fanconi anemia.
Zheng Z; Geng J; Yao RE; Li C; Ying D; Shen Y; Ying L; Yu Y; Fu Q
Gene; 2013 Nov; 530(2):295-300. PubMed ID: 23973728
[TBL] [Abstract][Full Text] [Related]
14. A scoping study to explore the cost-effectiveness of next-generation sequencing compared with traditional genetic testing for the diagnosis of learning disabilities in children.
Beale S; Sanderson D; Sanniti A; Dundar Y; Boland A
Health Technol Assess; 2015 Jun; 19(46):1-90. PubMed ID: 26132578
[TBL] [Abstract][Full Text] [Related]
15. Target resequencing of neuromuscular disease-related genes using next-generation sequencing for patients with undiagnosed early-onset neuromuscular disorders.
Kitamura Y; Kondo E; Urano M; Aoki R; Saito K
J Hum Genet; 2016 Nov; 61(11):931-942. PubMed ID: 27357428
[TBL] [Abstract][Full Text] [Related]
16. Next Generation Sequencing in Alzheimer's Disease.
Bertram L
Methods Mol Biol; 2016; 1303():281-97. PubMed ID: 26235074
[TBL] [Abstract][Full Text] [Related]
17. Personalized diagnosis and management of congenital cataract by next-generation sequencing.
Gillespie RL; O'Sullivan J; Ashworth J; Bhaskar S; Williams S; Biswas S; Kehdi E; Ramsden SC; Clayton-Smith J; Black GC; Lloyd IC
Ophthalmology; 2014 Nov; 121(11):2124-37.e1-2. PubMed ID: 25148791
[TBL] [Abstract][Full Text] [Related]
18. Targeted mutation screening of 292 candidate genes in 38 children with inborn haematological cytopenias efficiently identifies novel disease-causing mutations.
Kager L; Jimenez Heredia R; Hirschmugl T; Dmytrus J; Krolo A; Müller H; Bock C; Zeitlhofer P; Dworzak M; Mann G; Holter W; Haas O; Boztug K
Br J Haematol; 2018 Jul; 182(2):251-258. PubMed ID: 29797310
[TBL] [Abstract][Full Text] [Related]
19. Diagnosing childhood-onset inborn errors of metabolism by next-generation sequencing.
Ghosh A; Schlecht H; Heptinstall LE; Bassett JK; Cartwright E; Bhaskar SS; Urquhart J; Broomfield A; Morris AA; Jameson E; Schwahn BC; Walter JH; Douzgou S; Murphy H; Hendriksz C; Sharma R; Wilcox G; Crushell E; Monavari AA; Martin R; Doolan A; Senniappan S; Ramsden SC; Jones SA; Banka S
Arch Dis Child; 2017 Nov; 102(11):1019-1029. PubMed ID: 28468868
[TBL] [Abstract][Full Text] [Related]
20. 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]
[Next] [New Search]