149 related articles for article (PubMed ID: 30552423)
21. Objective Evaluation of Clinical Actionability for Genes Involved in Myopathies: 63 Genes with a Medical Value for Patient Care.
Vecten M; Pion E; Bartoli M; Morales RJ; Sternberg D; Rendu J; Stojkovic T; Bourdain CA; Métay C; Richard I; Cerino M; Milh M; Campana-Salort E; Gorokhova S; Levy N; Latypova X; Bonne G; Biancalana V; Petit F; Molon A; Perrin A; Laforêt P; Attarian S; Krahn M; Cossée M
Int J Mol Sci; 2022 Jul; 23(15):. PubMed ID: 35955641
[TBL] [Abstract][Full Text] [Related]
22. Reporting practices for variants of uncertain significance from next generation sequencing technologies.
Vears DF; Sénécal K; Borry P
Eur J Med Genet; 2017 Oct; 60(10):553-558. PubMed ID: 28774848
[TBL] [Abstract][Full Text] [Related]
23. 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]
24. College of American Pathologists' laboratory standards for next-generation sequencing clinical tests.
Aziz N; Zhao Q; Bry L; Driscoll DK; Funke B; Gibson JS; Grody WW; Hegde MR; Hoeltge GA; Leonard DG; Merker JD; Nagarajan R; Palicki LA; Robetorye RS; Schrijver I; Weck KE; Voelkerding KV
Arch Pathol Lab Med; 2015 Apr; 139(4):481-93. PubMed ID: 25152313
[TBL] [Abstract][Full Text] [Related]
25. Next-Generation Sequencing and the Return of Results.
Knoppers BM; Nguyen MT; Sénécal K; Tassé AM; Zawati MH
Cold Spring Harb Perspect Med; 2016 Oct; 6(10):. PubMed ID: 27599532
[TBL] [Abstract][Full Text] [Related]
26. 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]
27. Sanger Confirmation Is Required to Achieve Optimal Sensitivity and Specificity in Next-Generation Sequencing Panel Testing.
Mu W; Lu HM; Chen J; Li S; Elliott AM
J Mol Diagn; 2016 Nov; 18(6):923-932. PubMed ID: 27720647
[TBL] [Abstract][Full Text] [Related]
28. Next generation sequencing for molecular diagnosis of neuromuscular diseases.
Vasli N; Böhm J; Le Gras S; Muller J; Pizot C; Jost B; Echaniz-Laguna A; Laugel V; Tranchant C; Bernard R; Plewniak F; Vicaire S; Levy N; Chelly J; Mandel JL; Biancalana V; Laporte J
Acta Neuropathol; 2012 Aug; 124(2):273-83. PubMed ID: 22526018
[TBL] [Abstract][Full Text] [Related]
29. [Towards an harmonization of diagnosis by NGS of neuromuscular diseases - Actions of the Molecular Genetics sub-group of FILNEMUS].
Perrin A; Latour P; Procaccio V; Jardel C; Cérino M; Bonne G; Salort-Campana E; Urtizberea JA; Pouget J; Krahn M; Cossée M
Med Sci (Paris); 2018 Nov; 34 Hors série n°2():20-22. PubMed ID: 30418140
[No Abstract] [Full Text] [Related]
30. Points to consider for laboratories reporting results from diagnostic genomic sequencing.
Vears DF; Sénécal K; Clarke AJ; Jackson L; Laberge AM; Lovrecic L; Piton A; Van Gassen KLI; Yntema HG; Knoppers BM; Borry P
Eur J Hum Genet; 2018 Jan; 26(1):36-43. PubMed ID: 29184171
[TBL] [Abstract][Full Text] [Related]
31. Development and Validation of Targeted Next-Generation Sequencing Panels for Detection of Germline Variants in Inherited Diseases.
Santani A; Murrell J; Funke B; Yu Z; Hegde M; Mao R; Ferreira-Gonzalez A; Voelkerding KV; Weck KE
Arch Pathol Lab Med; 2017 Jun; 141(6):787-797. PubMed ID: 28322587
[TBL] [Abstract][Full Text] [Related]
32. Consensus document on the implementation of next generation sequencing in the genetic diagnosis of hereditary cancer.
Soto JL; Blanco I; Díez O; García Planells J; Lorda I; Matthijs G; Robledo M; Souche E; Lázaro C
Med Clin (Barc); 2018 Jul; 151(2):80.e1-80.e10. PubMed ID: 29439875
[TBL] [Abstract][Full Text] [Related]
33. A Next Generation Sequencing custom gene panel as first line diagnostic tool for atypical cases of syndromic obesity: Application in a case of Alström syndrome.
Maltese PE; Iarossi G; Ziccardi L; Colombo L; Buzzonetti L; Crinò A; Tezzele S; Bertelli M
Eur J Med Genet; 2018 Feb; 61(2):79-83. PubMed ID: 29079548
[TBL] [Abstract][Full Text] [Related]
34. Genetics of neuromuscular disorders.
Laing NG
Crit Rev Clin Lab Sci; 2012; 49(2):33-48. PubMed ID: 22468856
[TBL] [Abstract][Full Text] [Related]
35. [Medical genetics and the genome].
Gerdes AM; Vogel I
Ugeskr Laeger; 2014 Nov; 176(46):. PubMed ID: 25394930
[TBL] [Abstract][Full Text] [Related]
36. An international effort towards developing standards for best practices in analysis, interpretation and reporting of clinical genome sequencing results in the CLARITY Challenge.
Brownstein CA; Beggs AH; Homer N; Merriman B; Yu TW; Flannery KC; DeChene ET; Towne MC; Savage SK; Price EN; Holm IA; Luquette LJ; Lyon E; Majzoub J; Neupert P; McCallie D; Szolovits P; Willard HF; Mendelsohn NJ; Temme R; Finkel RS; Yum SW; Medne L; Sunyaev SR; Adzhubey I; Cassa CA; de Bakker PI; Duzkale H; Dworzyński P; Fairbrother W; Francioli L; Funke BH; Giovanni MA; Handsaker RE; Lage K; Lebo MS; Lek M; Leshchiner I; MacArthur DG; McLaughlin HM; Murray MF; Pers TH; Polak PP; Raychaudhuri S; Rehm HL; Soemedi R; Stitziel NO; Vestecka S; Supper J; Gugenmus C; Klocke B; Hahn A; Schubach M; Menzel M; Biskup S; Freisinger P; Deng M; Braun M; Perner S; Smith RJ; Andorf JL; Huang J; Ryckman K; Sheffield VC; Stone EM; Bair T; Black-Ziegelbein EA; Braun TA; Darbro B; DeLuca AP; Kolbe DL; Scheetz TE; Shearer AE; Sompallae R; Wang K; Bassuk AG; Edens E; Mathews K; Moore SA; Shchelochkov OA; Trapane P; Bossler A; Campbell CA; Heusel JW; Kwitek A; Maga T; Panzer K; Wassink T; Van Daele D; Azaiez H; Booth K; Meyer N; Segal MM; Williams MS; Tromp G; White P; Corsmeier D; Fitzgerald-Butt S; Herman G; Lamb-Thrush D; McBride KL; Newsom D; Pierson CR; Rakowsky AT; Maver A; Lovrečić L; Palandačić A; Peterlin B; Torkamani A; Wedell A; Huss M; Alexeyenko A; Lindvall JM; Magnusson M; Nilsson D; Stranneheim H; Taylan F; Gilissen C; Hoischen A; van Bon B; Yntema H; Nelen M; Zhang W; Sager J; Zhang L; Blair K; Kural D; Cariaso M; Lennon GG; Javed A; Agrawal S; Ng PC; Sandhu KS; Krishna S; Veeramachaneni V; Isakov O; Halperin E; Friedman E; Shomron N; Glusman G; Roach JC; Caballero J; Cox HC; Mauldin D; Ament SA; Rowen L; Richards DR; San Lucas FA; Gonzalez-Garay ML; Caskey CT; Bai Y; Huang Y; Fang F; Zhang Y; Wang Z; Barrera J; Garcia-Lobo JM; González-Lamuño D; Llorca J; Rodriguez MC; Varela I; Reese MG; De La Vega FM; Kiruluta E; Cargill M; Hart RK; Sorenson JM; Lyon GJ; Stevenson DA; Bray BE; Moore BM; Eilbeck K; Yandell M; Zhao H; Hou L; Chen X; Yan X; Chen M; Li C; Yang C; Gunel M; Li P; Kong Y; Alexander AC; Albertyn ZI; Boycott KM; Bulman DE; Gordon PM; Innes AM; Knoppers BM; Majewski J; Marshall CR; Parboosingh JS; Sawyer SL; Samuels ME; Schwartzentruber J; Kohane IS; Margulies DM
Genome Biol; 2014 Mar; 15(3):R53. PubMed ID: 24667040
[TBL] [Abstract][Full Text] [Related]
37. Next Generation Sequencing in the Clinic: a Patterns of Care Study in a Retrospective Cohort of Subjects Referred to a Genetic Medicine Clinic for Suspected Lynch Syndrome.
Gallego CJ; Perez ML; Burt A; Amendola LM; Shirts BH; Pritchard CC; Hisama FM; Bennett RL; Veenstra DL; Jarvik GP
J Genet Couns; 2016 Jun; 25(3):515-9. PubMed ID: 26637299
[TBL] [Abstract][Full Text] [Related]
38. Impact of next-generation sequencing on diagnosis and management of neurometabolic disorders: current advances and future perspectives.
Tarailo-Graovac M; Wasserman WW; Van Karnebeek CD
Expert Rev Mol Diagn; 2017 Apr; 17(4):307-309. PubMed ID: 28277145
[No Abstract] [Full Text] [Related]
39. Exome sequencing covers >98% of mutations identified on targeted next generation sequencing panels.
LaDuca H; Farwell KD; Vuong H; Lu HM; Mu W; Shahmirzadi L; Tang S; Chen J; Bhide S; Chao EC
PLoS One; 2017; 12(2):e0170843. PubMed ID: 28152038
[TBL] [Abstract][Full Text] [Related]
40. 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]
[Previous] [Next] [New Search]
