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Items: 1 to 20 of 287

1.

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. doi: 10.1111/hae.12908. Epub 2016 Feb 15.

PMID:
26879396
2.

Diagnostic single gene analyses beyond Sanger. Economic high-throughput sequencing of small genes involved in congenital coagulation and platelet disorders.

Najm J, Rath M, Schröder W, Felbor U.

Hamostaseologie. 2017 Jul 17;99(99). doi: 10.5482/HAMO-17-01-0008. [Epub ahead of print]

PMID:
28715041
3.

Diagnostic Single Gene Analyses Beyond Sanger.

Najm J, Rath M, Schröder W, Felbor U.

Hamostaseologie. 2018 Aug;38(3):158-165. doi: 10.5482/HAMO-17-01-0008. Epub 2018 Sep 27.

PMID:
30261521
4.

Comprehensive genetic testing approach for major inherited kidney diseases, using next-generation sequencing with a custom panel.

Mori T, Hosomichi K, Chiga M, Mandai S, Nakaoka H, Sohara E, Okado T, Rai T, Sasaki S, Inoue I, Uchida S.

Clin Exp Nephrol. 2017 Feb;21(1):63-75. doi: 10.1007/s10157-016-1252-1. Epub 2016 Feb 26.

PMID:
26920127
5.

Genetic testing for monogenic diabetes using targeted next-generation sequencing in patients with maturity-onset diabetes of the young.

Szopa M, Ludwig-Gałęzowska A, Radkowski P, Skupień J, Zapała B, Płatek T, Klupa T, Kieć-Wilk B, Borowiec M, Młynarski W, Wołkow P, Małecki MT.

Pol Arch Med Wewn. 2015;125(11):845-51. Epub 2015 Nov 9.

6.

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 14;9:33. doi: 10.1186/s40246-015-0055-x.

7.

Performance evaluation of the next-generation sequencing approach for molecular diagnosis of hereditary hearing loss.

Sivakumaran TA, Husami A, Kissell D, Zhang W, Keddache M, Black AP, Tinkle BT, Greinwald JH Jr, Zhang K.

Otolaryngol Head Neck Surg. 2013 Jun;148(6):1007-16. doi: 10.1177/0194599813482294. Epub 2013 Mar 22.

PMID:
23525850
8.

Next-generation sequencing for disorders of low and high bone mineral density.

Sule G, Campeau PM, Zhang VW, Nagamani SC, Dawson BC, Grover M, Bacino CA, Sutton VR, Brunetti-Pierri N, Lu JT, Lemire E, Gibbs RA, Cohn DH, Cui H, Wong LJ, Lee BH.

Osteoporos Int. 2013 Aug;24(8):2253-9. doi: 10.1007/s00198-013-2290-0. Epub 2013 Feb 27.

9.

Novel Phenotype-Genotype Correlations of Restrictive Cardiomyopathy With Myosin-Binding Protein C (MYBPC3) Gene Mutations Tested by Next-Generation Sequencing.

Wu W, Lu CX, Wang YN, Liu F, Chen W, Liu YT, Han YC, Cao J, Zhang SY, Zhang X.

J Am Heart Assoc. 2015 Jul 10;4(7). pii: e001879. doi: 10.1161/JAHA.115.001879.

10.

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. doi: 10.1016/j.ophtha.2014.06.006. Epub 2014 Aug 19.

PMID:
25148791
11.

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. doi: 10.1038/jhg.2016.79. Epub 2016 Jun 30.

PMID:
27357428
12.

Clinical validation of targeted next-generation sequencing for inherited disorders.

Yohe S, Hauge A, Bunjer K, Kemmer T, Bower M, Schomaker M, Onsongo G, Wilson J, Erdmann J, Zhou Y, Deshpande A, Spears MD, Beckman K, Silverstein KA, Thyagarajan B.

Arch Pathol Lab Med. 2015 Feb;139(2):204-10. doi: 10.5858/arpa.2013-0625-OA.

PMID:
25611102
13.

Diagnosis of Noonan syndrome and related disorders using target next generation sequencing.

Lepri FR, Scavelli R, Digilio MC, Gnazzo M, Grotta S, Dentici ML, Pisaneschi E, Sirleto P, Capolino R, Baban A, Russo S, Franchin T, Angioni A, Dallapiccola B.

BMC Med Genet. 2014 Jan 23;15:14. doi: 10.1186/1471-2350-15-14.

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. doi: 10.1016/j.jaci.2013.08.032. Epub 2013 Oct 15. Erratum in: J Allergy Clin Immunol. 2014 Apr;133(4):1232.

PMID:
24139496
15.

Targeted multi-gene panel testing for the diagnosis of Bardet Biedl syndrome: Identification of nine novel mutations across BBS1, BBS2, BBS4, BBS7, BBS9, BBS10 genes.

Ece Solmaz A, Onay H, Atik T, Aykut A, Cerrah Gunes M, Ozalp Yuregir O, Bas VN, Hazan F, Kirbiyik O, Ozkinay F.

Eur J Med Genet. 2015 Dec;58(12):689-94. doi: 10.1016/j.ejmg.2015.10.011. Epub 2015 Oct 27.

PMID:
26518167
16.

Dependable and efficient clinical utility of target capture-based deep sequencing in molecular diagnosis of retinitis pigmentosa.

Wang J, Zhang VW, Feng Y, Tian X, Li FY, Truong C, Wang G, Chiang PW, Lewis RA, Wong LJ.

Invest Ophthalmol Vis Sci. 2014 Aug 5;55(10):6213-23. doi: 10.1167/iovs.14-14936.

PMID:
25097241
17.

Clinical Next-Generation Sequencing Pipeline Outperforms a Combined Approach Using Sanger Sequencing and Multiplex Ligation-Dependent Probe Amplification in Targeted Gene Panel Analysis.

Schenkel LC, Kerkhof J, Stuart A, Reilly J, Eng B, Woodside C, Levstik A, Howlett CJ, Rupar AC, Knoll JHM, Ainsworth P, Waye JS, Sadikovic B.

J Mol Diagn. 2016 Sep;18(5):657-667. doi: 10.1016/j.jmoldx.2016.04.002. Epub 2016 Jul 2.

PMID:
27376475
18.

Genomic approaches to bleeding disorders.

Peyvandi F, Hayward CP.

Haemophilia. 2016 Jul;22 Suppl 5:42-5. doi: 10.1111/hae.12998.

PMID:
27405675
19.

Molecular genetic analysis of PKHD1 by next-generation sequencing in Czech families with autosomal recessive polycystic kidney disease.

Obeidova L, Seeman T, Elisakova V, Reiterova J, Puchmajerova A, Stekrova J.

BMC Med Genet. 2015 Dec 22;16:116. doi: 10.1186/s12881-015-0261-3.

20.

Application of targeted multi-gene panel testing for the diagnosis of inherited peripheral neuropathy provides a high diagnostic yield with unexpected phenotype-genotype variability.

Antoniadi T, Buxton C, Dennis G, Forrester N, Smith D, Lunt P, Burton-Jones S.

BMC Med Genet. 2015 Sep 21;16:84. doi: 10.1186/s12881-015-0224-8.

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