204 related articles for article (PubMed ID: 30103613)
21. 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. PubMed ID: 26920127
[TBL] [Abstract][Full Text] [Related]
22. Detection and Quantification of Mosaic Mutations in Disease Genes by Next-Generation Sequencing.
Qin L; Wang J; Tian X; Yu H; Truong C; Mitchell JJ; Wierenga KJ; Craigen WJ; Zhang VW; Wong LC
J Mol Diagn; 2016 May; 18(3):446-453. PubMed ID: 26944031
[TBL] [Abstract][Full Text] [Related]
23. Development of a Targeted Multi-Disorder High-Throughput Sequencing Assay for the Effective Identification of Disease-Causing Variants.
Delio M; Patel K; Maslov A; Marion RW; McDonald TV; Cadoff EM; Golden A; Greally JM; Vijg J; Morrow B; Montagna C
PLoS One; 2015; 10(7):e0133742. PubMed ID: 26214305
[TBL] [Abstract][Full Text] [Related]
24. Clinical utility of a targeted next generation sequencing panel in severe and pediatric onset Mendelian diseases.
Isik E; Onay H; Atik T; Canda E; Cogulu O; Coker M; Ozkinay F
Eur J Med Genet; 2019 Oct; 62(10):103725. PubMed ID: 31319225
[TBL] [Abstract][Full Text] [Related]
25. Analysis of hereditary cancer syndromes by using a panel of genes: novel and multiple pathogenic mutations.
Tsaousis GN; Papadopoulou E; Apessos A; Agiannitopoulos K; Pepe G; Kampouri S; Diamantopoulos N; Floros T; Iosifidou R; Katopodi O; Koumarianou A; Markopoulos C; Papazisis K; Venizelos V; Xanthakis I; Xepapadakis G; Banu E; Eniu DT; Negru S; Stanculeanu DL; Ungureanu A; Ozmen V; Tansan S; Tekinel M; Yalcin S; Nasioulas G
BMC Cancer; 2019 Jun; 19(1):535. PubMed ID: 31159747
[TBL] [Abstract][Full Text] [Related]
26. Analyses of Genetic and Clinical Parameters for Screening Patients With Inherited Thrombocytopenia with Small or Normal-Sized Platelets.
Ouchi-Uchiyama M; Sasahara Y; Kikuchi A; Goi K; Nakane T; Ikeno M; Noguchi Y; Uike N; Miyajima Y; Matsubara K; Koh K; Sugita K; Imaizumi M; Kure S
Pediatr Blood Cancer; 2015 Dec; 62(12):2082-8. PubMed ID: 26175287
[TBL] [Abstract][Full Text] [Related]
27. Sequencing-based diagnostics for pediatric genetic diseases: progress and potential.
Abou Tayoun AN; Krock B; Spinner NB
Expert Rev Mol Diagn; 2016 Sep; 16(9):987-99. PubMed ID: 27388938
[TBL] [Abstract][Full Text] [Related]
28. Genetics of inherited thrombocytopenias.
Warren JT; Di Paola J
Blood; 2022 Jun; 139(22):3264-3277. PubMed ID: 35167650
[TBL] [Abstract][Full Text] [Related]
29. Evaluation of the Ion Torrent PGM sequencing workflow for the routine rapid detection of BRCA1 and BRCA2 germline mutations.
Zanella I; Merola F; Biasiotto G; Archetti S; Spinelli E; Di Lorenzo D
Exp Mol Pathol; 2017 Apr; 102(2):314-320. PubMed ID: 28263838
[TBL] [Abstract][Full Text] [Related]
30. Diagnostic utility of a targeted next-generation sequencing gene panel in the clinical suspicion of systemic autoinflammatory diseases: a multi-center study.
Karacan İ; Balamir A; Uğurlu S; Aydın AK; Everest E; Zor S; Önen MÖ; Daşdemir S; Özkaya O; Sözeri B; Tufan A; Yıldırım DG; Yüksel S; Ayaz NA; Ömeroğlu RE; Öztürk K; Çakan M; Söylemezoğlu O; Şahin S; Barut K; Adroviç A; Seyahi E; Özdoğan H; Kasapçopur Ö; Turanlı ET
Rheumatol Int; 2019 May; 39(5):911-919. PubMed ID: 30783801
[TBL] [Abstract][Full Text] [Related]
31. Targeted next generation sequencing identifies novel pathogenic variants and provides molecular diagnoses in a cohort of pediatric and adult patients with unexplained mitochondrial dysfunction.
Nogueira C; Silva L; Pereira C; Vieira L; Leão Teles E; Rodrigues E; Campos T; Janeiro P; Gaspar A; Dupont J; Bandeira A; Martins E; Magalhães M; Sequeira S; Vieira JP; Santos H; Vilarinho S; Vilarinho L
Mitochondrion; 2019 Jul; 47():309-317. PubMed ID: 30831263
[TBL] [Abstract][Full Text] [Related]
32. 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]
33. Targeted next generation sequencing application in cardiac channelopathies: Analysis of a cohort of autopsy-negative sudden unexplained deaths.
Farrugia A; Keyser C; Hollard C; Raul JS; Muller J; Ludes B
Forensic Sci Int; 2015 Sep; 254():5-11. PubMed ID: 26164358
[TBL] [Abstract][Full Text] [Related]
34. Clinical Validation of Copy Number Variant Detection from Targeted Next-Generation Sequencing Panels.
Kerkhof J; Schenkel LC; Reilly J; McRobbie S; Aref-Eshghi E; Stuart A; Rupar CA; Adams P; Hegele RA; Lin H; Rodenhiser D; Knoll J; Ainsworth PJ; Sadikovic B
J Mol Diagn; 2017 Nov; 19(6):905-920. PubMed ID: 28818680
[TBL] [Abstract][Full Text] [Related]
35. Targeted next-generation sequencing as a comprehensive test for Mendelian diseases: a cohort diagnostic study.
Sun Y; Man J; Wan Y; Pan G; Du L; Li L; Yang Y; Qiu L; Gao Q; Dan H; Mao L; Cheng Z; Fan C; Yu J; Lin M; Kristiansen K; Shen Y; Wei X
Sci Rep; 2018 Aug; 8(1):11646. PubMed ID: 30076350
[TBL] [Abstract][Full Text] [Related]
36. Genotype-phenotype correlation in a cohort of Portuguese patients comprising the entire spectrum of VWD types: impact of NGS.
Fidalgo T; Salvado R; Corrales I; Pinto SC; Borràs N; Oliveira A; Martinho P; Ferreira G; Almeida H; Oliveira C; Marques D; Gonçalves E; Diniz M; Antunes M; Tavares A; Caetano G; Kjöllerström P; Maia R; Sevivas TS; Vidal F; Ribeiro L
Thromb Haemost; 2016 Jul; 116(1):17-31. PubMed ID: 26988807
[TBL] [Abstract][Full Text] [Related]
37. Inherited macrothrombocytopenias.
Rabbolini DJ; Morel-Kopp MC; Stevenson W; Ward CM
Semin Thromb Hemost; 2014 Oct; 40(7):774-84. PubMed ID: 25173502
[TBL] [Abstract][Full Text] [Related]
38. 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]
39. Next-generation sequencing-based molecular diagnosis of 12 inherited retinal disease probands of Uyghur ethnicity.
Tajiguli A; Xu M; Fu Q; Yiming R; Wang K; Li Y; Eblimit A; Sui R; Chen R; Aisa HA
Sci Rep; 2016 Feb; 6():21384. PubMed ID: 26856745
[TBL] [Abstract][Full Text] [Related]
40. [Diagnose of a neonate with X-linked thrombocytopenia by next generation sequencing].
Gao M; Kang L; Liu Y; Gai Z
Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2018 Jun; 35(3):422-425. PubMed ID: 29896746
[TBL] [Abstract][Full Text] [Related]
[Previous] [Next] [New Search]
