504 related articles for article (PubMed ID: 26920127)
21. Clinical evaluation of panel testing by next-generation sequencing (NGS) for gene mutations in myeloid neoplasms.
Au CH; Wa A; Ho DN; Chan TL; Ma ES
Diagn Pathol; 2016 Jan; 11():11. PubMed ID: 26796102
[TBL] [Abstract][Full Text] [Related]
22. Newly designed 11-gene panel reveals first case of hereditary amyloidosis captured by massive parallel sequencing.
Chyra Kufova Z; Sevcikova T; Januska J; Vojta P; Boday A; Vanickova P; Filipova J; Growkova K; Jelinek T; Hajduch M; Hajek R
J Clin Pathol; 2018 Aug; 71(8):687-694. PubMed ID: 29455155
[TBL] [Abstract][Full Text] [Related]
23. 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. PubMed ID: 26518167
[TBL] [Abstract][Full Text] [Related]
24. Taking the next step forward - Diagnosing inherited infantile cholestatic disorders with next generation sequencing.
Herbst SM; Schirmer S; Posovszky C; Jochum F; Rödl T; Schroeder JA; Barth TF; Hehr U; Melter M; Vermehren J
Mol Cell Probes; 2015 Oct; 29(5):291-8. PubMed ID: 25771912
[TBL] [Abstract][Full Text] [Related]
25. A next-generation sequencing gene panel (MiamiOtoGenes) for comprehensive analysis of deafness genes.
Tekin D; Yan D; Bademci G; Feng Y; Guo S; Foster J; Blanton S; Tekin M; Liu X
Hear Res; 2016 Mar; 333():179-184. PubMed ID: 26850479
[TBL] [Abstract][Full Text] [Related]
26. [Genetic kidney diseases: new perspectives on diagnosis].
Bouatou Y; Paoloni-Giacobino A; Parvex P; De Seigneux S
Rev Med Suisse; 2016 Feb; 12(507):387-8, 390-2. PubMed ID: 27039603
[TBL] [Abstract][Full Text] [Related]
27. 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; 16():84. PubMed ID: 26392352
[TBL] [Abstract][Full Text] [Related]
28. Validation of a next-generation-sequencing cancer panel for use in the clinical laboratory.
Simen BB; Yin L; Goswami CP; Davis KO; Bajaj R; Gong JZ; Peiper SC; Johnson ES; Wang ZX
Arch Pathol Lab Med; 2015 Apr; 139(4):508-17. PubMed ID: 25356985
[TBL] [Abstract][Full Text] [Related]
29. Development and analytical validation of a 25-gene next generation sequencing panel that includes the BRCA1 and BRCA2 genes to assess hereditary cancer risk.
Judkins T; Leclair B; Bowles K; Gutin N; Trost J; McCulloch J; Bhatnagar S; Murray A; Craft J; Wardell B; Bastian M; Mitchell J; Chen J; Tran T; Williams D; Potter J; Jammulapati S; Perry M; Morris B; Roa B; Timms K
BMC Cancer; 2015 Apr; 15():215. PubMed ID: 25886519
[TBL] [Abstract][Full Text] [Related]
30. Homozygosity mapping guided next generation sequencing to identify the causative genetic variation in inherited retinal degenerative diseases.
Sundaramurthy S; Swaminathan M; Sen P; Arokiasamy T; Deshpande S; John N; Gadkari RA; Mannan AU; Soumittra N
J Hum Genet; 2016 Nov; 61(11):951-958. PubMed ID: 27383656
[TBL] [Abstract][Full Text] [Related]
31. Introducing high-throughput sequencing into mainstream genetic diagnosis practice in inherited platelet disorders.
Bastida JM; Lozano ML; Benito R; Janusz K; Palma-Barqueros V; Del Rey M; Hernández-Sánchez JM; Riesco S; Bermejo N; González-García H; Rodriguez-Alén A; Aguilar C; Sevivas T; López-Fernández MF; Marneth AE; van der Reijden BA; Morgan NV; Watson SP; Vicente V; Hernández-Rivas JM; Rivera J; González-Porras JR
Haematologica; 2018 Jan; 103(1):148-162. PubMed ID: 28983057
[TBL] [Abstract][Full Text] [Related]
32. Clinical utility of a 377 gene custom next-generation sequencing epilepsy panel.
Bevilacqua J; Hesse A; Cormier B; Davey J; Patel D; Shankar K; Reddi HV
J Genet; 2017 Sep; 96(4):681-685. PubMed ID: 28947717
[TBL] [Abstract][Full Text] [Related]
33. Targeted Next-Generation Sequencing in a Large Cohort of Genetically Undiagnosed Patients with Neuromuscular Disorders in Spain.
Gonzalez-Quereda L; Rodriguez MJ; Diaz-Manera J; Alonso-Perez J; Gallardo E; Nascimento A; Ortez C; Natera-de Benito D; Olive M; Gonzalez-Mera L; Munain AL; Zulaica M; Poza JJ; Jerico I; Torne L; Riera P; Milisenda J; Sanchez A; Garrabou G; Llano I; Madruga-Garrido M; Gallano P
Genes (Basel); 2020 May; 11(5):. PubMed ID: 32403337
[TBL] [Abstract][Full Text] [Related]
34. NGS panel analysis in 24 ectopia lentis patients; a clinically relevant test with a high diagnostic yield.
Overwater E; Floor K; van Beek D; de Boer K; van Dijk T; Hilhorst-Hofstee Y; Hoogeboom AJM; van Kaam KJ; van de Kamp JM; Kempers M; Krapels IPC; Kroes HY; Loeys B; Salemink S; Stumpel CTRM; Verhoeven VJM; Wijnands-van den Berg E; Cobben JM; van Tintelen JP; Weiss MM; Houweling AC; Maugeri A
Eur J Med Genet; 2017 Sep; 60(9):465-473. PubMed ID: 28642162
[TBL] [Abstract][Full Text] [Related]
35. The Position of Targeted Next-generation Sequencing in Epidermolysis Bullosa Diagnosis.
Has C; Küsel J; Reimer A; Hoffmann J; Schauer F; Zimmer A; Fischer J
Acta Derm Venereol; 2018 Apr; 98(4):437-440. PubMed ID: 29242947
[TBL] [Abstract][Full Text] [Related]
36. Unravelling the Complexity of Inherited Retinal Dystrophies Molecular Testing: Added Value of Targeted Next-Generation Sequencing.
Bernardis I; Chiesi L; Tenedini E; Artuso L; Percesepe A; Artusi V; Simone ML; Manfredini R; Camparini M; Rinaldi C; Ciardella A; Graziano C; Balducci N; Tranchina A; Cavallini GM; Pietrangelo A; Marigo V; Tagliafico E
Biomed Res Int; 2016; 2016():6341870. PubMed ID: 28127548
[TBL] [Abstract][Full Text] [Related]
37. Dealing with the incidental finding of secondary variants by the example of SRNS patients undergoing targeted next-generation sequencing.
Weber S; Büscher AK; Hagmann H; Liebau MC; Heberle C; Ludwig M; Rath S; Alberer M; Beissert A; Zenker M; Hoyer PF; Konrad M; Klein HG; Hoefele J
Pediatr Nephrol; 2016 Jan; 31(1):73-81. PubMed ID: 26248470
[TBL] [Abstract][Full Text] [Related]
38. 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; 55(10):6213-23. PubMed ID: 25097241
[TBL] [Abstract][Full Text] [Related]
39. 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; Zhang K
Otolaryngol Head Neck Surg; 2013 Jun; 148(6):1007-16. PubMed ID: 23525850
[TBL] [Abstract][Full Text] [Related]
40. Frequency of mutations in individuals with breast cancer referred for BRCA1 and BRCA2 testing using next-generation sequencing with a 25-gene panel.
Tung N; Battelli C; Allen B; Kaldate R; Bhatnagar S; Bowles K; Timms K; Garber JE; Herold C; Ellisen L; Krejdovsky J; DeLeonardis K; Sedgwick K; Soltis K; Roa B; Wenstrup RJ; Hartman AR
Cancer; 2015 Jan; 121(1):25-33. PubMed ID: 25186627
[TBL] [Abstract][Full Text] [Related]
[Previous] [Next] [New Search]