451 related articles for article (PubMed ID: 29389947)
21. Whole-exome sequencing in intellectual disability; cost before and after a diagnosis.
Vrijenhoek T; Middelburg EM; Monroe GR; van Gassen KLI; Geenen JW; Hövels AM; Knoers NV; van Amstel HKP; Frederix GWJ
Eur J Hum Genet; 2018 Nov; 26(11):1566-1571. PubMed ID: 29959382
[TBL] [Abstract][Full Text] [Related]
22. Whole-exome sequencing reanalysis at 12 months boosts diagnosis and is cost-effective when applied early in Mendelian disorders.
Ewans LJ; Schofield D; Shrestha R; Zhu Y; Gayevskiy V; Ying K; Walsh C; Lee E; Kirk EP; Colley A; Ellaway C; Turner A; Mowat D; Worgan L; Freckmann ML; Lipke M; Sachdev R; Miller D; Field M; Dinger ME; Buckley MF; Cowley MJ; Roscioli T
Genet Med; 2018 Dec; 20(12):1564-1574. PubMed ID: 29595814
[TBL] [Abstract][Full Text] [Related]
23. Clinical whole exome sequencing in child neurology practice.
Srivastava S; Cohen JS; Vernon H; Barañano K; McClellan R; Jamal L; Naidu S; Fatemi A
Ann Neurol; 2014 Oct; 76(4):473-83. PubMed ID: 25131622
[TBL] [Abstract][Full Text] [Related]
24. The utility of whole exome sequencing in diagnosing neurological disorders in adults from a highly consanguineous population.
Mu W; Schiess N; Orthmann-Murphy JL; El-Hattab AW
J Neurogenet; 2019 Mar; 33(1):21-26. PubMed ID: 30724636
[TBL] [Abstract][Full Text] [Related]
25. Diagnostic value of whole-exome sequencing in Chinese pediatric-onset neuromuscular patients.
Tsang MHY; Chiu ATG; Kwong BMH; Liang R; Yu MHC; Yeung KS; Ho WHL; Mak CCY; Leung GKC; Pei SLC; Fung JLF; Wong VCN; Muntoni F; Chung BHY; Chan SHS
Mol Genet Genomic Med; 2020 May; 8(5):e1205. PubMed ID: 32154989
[TBL] [Abstract][Full Text] [Related]
26. Diagnostic odyssey in severe neurodevelopmental disorders: toward clinical whole-exome sequencing as a first-line diagnostic test.
Thevenon J; Duffourd Y; Masurel-Paulet A; Lefebvre M; Feillet F; El Chehadeh-Djebbar S; St-Onge J; Steinmetz A; Huet F; Chouchane M; Darmency-Stamboul V; Callier P; Thauvin-Robinet C; Faivre L; Rivière JB
Clin Genet; 2016 Jun; 89(6):700-7. PubMed ID: 26757139
[TBL] [Abstract][Full Text] [Related]
27. Neurogenetics in Argentina: diagnostic yield in a personalized research based clinic.
Rodríguez-Quiroga SA; Cordoba M; González-Morón D; Medina N; Vega P; Dusefante CV; Arakaki T; Garretto NS; Kauffman MA
Genet Res (Camb); 2015; 97():e10. PubMed ID: 25989649
[TBL] [Abstract][Full Text] [Related]
28. Diagnostic yield of next-generation sequencing applied to neurological disorders.
Marques Matos C; Alonso I; Leão M
J Clin Neurosci; 2019 Sep; 67():14-18. PubMed ID: 31272831
[TBL] [Abstract][Full Text] [Related]
29. Improving the efficacy of exome sequencing at a quaternary care referral centre: novel mutations, clinical presentations and diagnostic challenges in rare neurogenetic diseases.
Grunseich C; Sarkar N; Lu J; Owen M; Schindler A; Calabresi PA; Sumner CJ; Roda RH; Chaudhry V; Lloyd TE; Crawford TO; Subramony SH; Oh SJ; Richardson P; Tanji K; Kwan JY; Fischbeck KH; Mankodi A
J Neurol Neurosurg Psychiatry; 2021 Nov; 92(11):1186-1196. PubMed ID: 34103343
[TBL] [Abstract][Full Text] [Related]
30. Mitochondrial DNA Analysis from Exome Sequencing Data Improves Diagnostic Yield in Neurological Diseases.
Poole OV; Pizzamiglio C; Murphy D; Falabella M; Macken WL; Bugiardini E; Woodward CE; Labrum R; Efthymiou S; Salpietro V; Chelban V; Kaiyrzhanov R; Maroofian R; ; Amato AA; Gregory A; Hayflick SJ; ; Jonvik H; Wood N; Houlden H; Vandrovcova J; Hanna MG; Pittman A; Pitceathly RDS
Ann Neurol; 2021 Jun; 89(6):1240-1247. PubMed ID: 33704825
[TBL] [Abstract][Full Text] [Related]
31. Reanalysis of whole-exome sequencing (WES) data of children with neurodevelopmental disorders in a standard patient care context.
van Slobbe M; van Haeringen A; Vissers LELM; Bijlsma EK; Rutten JW; Suerink M; Nibbeling EAR; Ruivenkamp CAL; Koene S
Eur J Pediatr; 2024 Jan; 183(1):345-355. PubMed ID: 37889289
[TBL] [Abstract][Full Text] [Related]
32. Diagnostic Utility of Whole Exome Sequencing in the Neuromuscular Clinic.
Waldrop MA; Pastore M; Schrader R; Sites E; Bartholomew D; Tsao CY; Flanigan KM
Neuropediatrics; 2019 Apr; 50(2):96-102. PubMed ID: 30665247
[TBL] [Abstract][Full Text] [Related]
33. The diagnostic pathway in complex paediatric neurology: a cost analysis.
van Nimwegen KJ; Schieving JH; Willemsen MA; Veltman JA; van der Burg S; van der Wilt GJ; Grutters JP
Eur J Paediatr Neurol; 2015 Mar; 19(2):233-9. PubMed ID: 25604808
[TBL] [Abstract][Full Text] [Related]
34. Whole-exome sequencing in adult patients with developmental and epileptic encephalopathy: It is never too late.
Minardi R; Licchetta L; Baroni MC; Pippucci T; Stipa C; Mostacci B; Severi G; Toni F; Bergonzini L; Carelli V; Seri M; Tinuper P; Bisulli F
Clin Genet; 2020 Nov; 98(5):477-485. PubMed ID: 32725632
[TBL] [Abstract][Full Text] [Related]
35. Cost of exome sequencing in epileptic encephalopathy: is it 'worth it'?
Forman EB; Gorman KM; Conroy J; Arthur N; Grant C; Ennis S; Allen NM; Lynch SA; King MD
Arch Dis Child; 2018 Mar; 103(3):304. PubMed ID: 28939639
[No Abstract] [Full Text] [Related]
36. 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]
37. Exome first approach to reduce diagnostic costs and time - retrospective analysis of 111 individuals with rare neurodevelopmental disorders.
Klau J; Abou Jamra R; Radtke M; Oppermann H; Lemke JR; Beblo S; Popp B
Eur J Hum Genet; 2022 Jan; 30(1):117-125. PubMed ID: 34690354
[TBL] [Abstract][Full Text] [Related]
38. Effectiveness of Whole-Exome Sequencing for the Identification of Causal Mutations in Patients with Suspected Inherited Ocular Diseases.
Ordoñez-Labastida V; Montes-Almanza L; García-Martínez F; Zenteno JC
Rev Invest Clin; 2022; 74(4):219-226. PubMed ID: 36087940
[TBL] [Abstract][Full Text] [Related]
39. Exome sequencing has higher diagnostic yield compared to simulated disease-specific panels in children with suspected monogenic disorders.
Dillon OJ; Lunke S; Stark Z; Yeung A; Thorne N; ; Gaff C; White SM; Tan TY
Eur J Hum Genet; 2018 May; 26(5):644-651. PubMed ID: 29453417
[TBL] [Abstract][Full Text] [Related]
40. Focused Exome Sequencing Gives a High Diagnostic Yield in the Indian Subcontinent.
Duraisamy AJ; Liu R; Sureshkumar S; Rose R; Jagannathan L; da Silva C; Coovadia A; Ramachander V; Chandrasekar S; Raja I; Sajnani M; Selvaraj SM; Narang B; Darvishi K; Bhayal AC; Katikala L; Guo F; Chen-Deutsch X; Balciuniene J; Ma Z; Nallamilli BRR; Bean L; Collins C; Hegde M
J Mol Diagn; 2024 Jun; 26(6):510-519. PubMed ID: 38582400
[TBL] [Abstract][Full Text] [Related]
[Previous] [Next] [New Search]
