160 related articles for article (PubMed ID: 34075706)
41. Consecutive medical exome analysis at a tertiary center: Diagnostic and health-economic outcomes.
Kosaki R; Kubota M; Uehara T; Suzuki H; Takenouchi T; Kosaki K
Am J Med Genet A; 2020 Jul; 182(7):1601-1607. PubMed ID: 32369273
[TBL] [Abstract][Full Text] [Related]
42. Reducing diagnostic turnaround times of exome sequencing for families requiring timely diagnoses.
Bourchany A; Thauvin-Robinet C; Lehalle D; Bruel AL; Masurel-Paulet A; Jean N; Nambot S; Willems M; Lambert L; El Chehadeh-Djebbar S; Schaefer E; Jaquette A; St-Onge J; Poe C; Jouan T; Chevarin M; Callier P; Mosca-Boidron AL; Laurent N; Lefebvre M; Huet F; Houcinat N; Moutton S; Philippe C; Tran-Mau-Them F; Vitobello A; Kuentz P; Duffourd Y; Rivière JB; Thevenon J; Faivre L
Eur J Med Genet; 2017 Nov; 60(11):595-604. PubMed ID: 28807864
[TBL] [Abstract][Full Text] [Related]
43. [Whole exome sequencing and whole genome sequencing in undiagnosed disease: of value for certain patient populations].
Linthorst GE; Hollak CEM
Ned Tijdschr Geneeskd; 2019 May; 163():. PubMed ID: 31120221
[TBL] [Abstract][Full Text] [Related]
44. [UTILIZATION OF WHOLE EXOME SEQUENCING IN DIAGNOSTICS OF GENETIC DISEASE: RABIN MEDICAL CENTER'S EXPERIENCE].
Cohen L; Orenstein N; Weisz-Hubshman M; Bazak L; Davidov B; Reinstein E; Tzur S; Behar D; Smirin-Yosef P; Salmon-Divon M; Gross A; Shohat M; Basel-Vanagaite L
Harefuah; 2017 Apr; 156(4):212-216. PubMed ID: 28551919
[TBL] [Abstract][Full Text] [Related]
45. 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]
46. Disparities in Genetic Testing for Neurologic Disorders.
Baldwin A; Copeland J; Azage M; Dratch L; Johnson K; Paul RA; Amado DA; Baer M; Deik A; Elman LB; Guo M; Hamedani AG; Irwin DJ; Lasker A; Orthmann-Murphy J; Quinn CC; Tropea TF; Scherer SS; Shinohara RT; Hamilton RH; Ellis CA
Neurology; 2024 Mar; 102(6):e209161. PubMed ID: 38447117
[TBL] [Abstract][Full Text] [Related]
47. A population-based cost-effectiveness study of early genetic testing in severe epilepsies of infancy.
Howell KB; Eggers S; Dalziel K; Riseley J; Mandelstam S; Myers CT; McMahon JM; Schneider A; Carvill GL; Mefford HC; ; Scheffer IE; Harvey AS
Epilepsia; 2018 Jun; 59(6):1177-1187. PubMed ID: 29750358
[TBL] [Abstract][Full Text] [Related]
48. Impact of integrated translational research on clinical exome sequencing.
Klee EW; Cousin MA; Pinto E Vairo F; Morales-Rosado JA; Macke EL; Jenkinson WG; Ferrer A; Schultz-Rogers LE; Olson RJ; Oliver GR; Sigafoos AN; Schwab TL; Zimmermann MT; Urrutia RA; Kaiwar C; Gupta A; Blackburn PR; Boczek NJ; Prochnow CA; Lowy RJ; Mulvihill LA; McAllister TM; Aoudia SL; Kruisselbrink TM; Gunderson LB; Kemppainen JL; Fisher LJ; Tarnowski JM; Hager MM; Kroc SA; Bertsch NL; Agre KE; Jackson JL; Macklin-Mantia SK; Murphree MI; Rust LM; Summer Bolster JM; Beck SA; Atwal PS; Ellingson MS; Barnett SS; Rasmussen KJ; Lahner CA; Niu Z; Hasadsri L; Ferber MJ; Marcou CA; Clark KJ; Pichurin PN; Deyle DR; Morava-Kozicz E; Gavrilova RH; Dhamija R; Wierenga KJ; Lanpher BC; Babovic-Vuksanovic D; Farrugia G; Schimmenti LA; Stewart AK; Lazaridis KN
Genet Med; 2021 Mar; 23(3):498-507. PubMed ID: 33144682
[TBL] [Abstract][Full Text] [Related]
49. 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]
50. Outcome of Whole Exome Sequencing for Diagnostic Odyssey Cases of an Individualized Medicine Clinic: The Mayo Clinic Experience.
Lazaridis KN; Schahl KA; Cousin MA; Babovic-Vuksanovic D; Riegert-Johnson DL; Gavrilova RH; McAllister TM; Lindor NM; Abraham RS; Ackerman MJ; Pichurin PN; Deyle DR; Gavrilov DK; Hand JL; Klee EW; Stephens MC; Wick MJ; Atkinson EJ; Linden DR; Ferber MJ; Wieben ED; Farrugia G;
Mayo Clin Proc; 2016 Mar; 91(3):297-307. PubMed ID: 26944241
[TBL] [Abstract][Full Text] [Related]
51. 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]
52. Diagnostic performance of automated, streamlined, daily updated exome analysis in patients with neurodevelopmental delay.
Seo GH; Lee H; Lee J; Han H; Cho YK; Kim M; Choi Y; Choi J; Choi IH; Rhie S; Chae KY; Kim YM; Cheon CK; Kim SJ; Lee J; Kang E; Byeon JH; Yu HJ; Shin YL; Oh A; Kim WJ; Yum MS; Lee BH; Eun BL
Mol Med; 2022 Mar; 28(1):38. PubMed ID: 35346031
[TBL] [Abstract][Full Text] [Related]
53. The Exome Clinic and the role of medical genetics expertise in the interpretation of exome sequencing results.
Baldridge D; Heeley J; Vineyard M; Manwaring L; Toler TL; Fassi E; Fiala E; Brown S; Goss CW; Willing M; Grange DK; Kozel BA; Shinawi M
Genet Med; 2017 Sep; 19(9):1040-1048. PubMed ID: 28252636
[TBL] [Abstract][Full Text] [Related]
54. A head-to-head evaluation of the diagnostic efficacy and costs of trio versus singleton exome sequencing analysis.
Tan TY; Lunke S; Chong B; Phelan D; Fanjul-Fernandez M; Marum JE; Kumar VS; Stark Z; Yeung A; Brown NJ; Stutterd C; Delatycki MB; Sadedin S; Martyn M; Goranitis I; Thorne N; Gaff CL; White SM
Eur J Hum Genet; 2019 Dec; 27(12):1791-1799. PubMed ID: 31320747
[TBL] [Abstract][Full Text] [Related]
55. The added value of WES reanalysis in the field of genetic diagnosis: lessons learned from 200 exomes in the Lebanese population.
Jalkh N; Corbani S; Haidar Z; Hamdan N; Farah E; Abou Ghoch J; Ghosn R; Salem N; Fawaz A; Djambas Khayat C; Rajab M; Mourani C; Moukarzel A; Rassi S; Gerbaka B; Mansour H; Baassiri M; Dagher R; Breich D; Mégarbané A; Desvignes JP; Delague V; Mehawej C; Chouery E
BMC Med Genomics; 2019 Jan; 12(1):11. PubMed ID: 30665423
[TBL] [Abstract][Full Text] [Related]
56. Genetic and genomic testing for neurologic disease in clinical practice.
Fogel BL
Handb Clin Neurol; 2018; 147():11-22. PubMed ID: 29325607
[TBL] [Abstract][Full Text] [Related]
57. Utility of exome sequencing for the diagnosis of pediatric-onset neuromuscular diseases beyond diagnostic yield: a narrative review.
Piñeros-Fernández MC; Morte B; García-Giménez JL
Neurol Sci; 2024 Apr; 45(4):1455-1464. PubMed ID: 37989827
[TBL] [Abstract][Full Text] [Related]
58. Genetic Testing in Children with Epilepsy: Report of a Single-Center Experience.
Lee S; Karp N; Zapata-Aldana E; Sadikovic B; Yang P; Balci TB; Prasad AN
Can J Neurol Sci; 2021 Mar; 48(2):233-244. PubMed ID: 32741404
[TBL] [Abstract][Full Text] [Related]
59. The clinical utility of whole-exome sequencing in the context of rare diseases - the changing tides of medical practice.
Nguyen MT; Charlebois K
Clin Genet; 2015 Oct; 88(4):313-9. PubMed ID: 25421945
[TBL] [Abstract][Full Text] [Related]
60. Clinical exome sequencing in neurogenetic and neuropsychiatric disorders.
Fogel BL; Lee H; Strom SP; Deignan JL; Nelson SF
Ann N Y Acad Sci; 2016 Feb; 1366(1):49-60. PubMed ID: 26250888
[TBL] [Abstract][Full Text] [Related]
[Previous] [Next] [New Search]