160 related articles for article (PubMed ID: 34075706)
1. Temporal trends and yield of clinical diagnostic genetic testing in adult neurology.
Guo MH; Bardakjian TM; Brzozowski MR; Scherer SS; Quinn C; Elman L; Orthmann-Murphy J; Tropea TF; Ellis CA; Gonzalez-Alegre P
Am J Med Genet A; 2021 Oct; 185(10):2922-2928. PubMed ID: 34075706
[TBL] [Abstract][Full Text] [Related]
2. Whole exome sequencing in neurogenetic odysseys: An effective, cost- and time-saving diagnostic approach.
Córdoba M; Rodriguez-Quiroga SA; Vega PA; Salinas V; Perez-Maturo J; Amartino H; Vásquez-Dusefante C; Medina N; González-Morón D; Kauffman MA
PLoS One; 2018; 13(2):e0191228. PubMed ID: 29389947
[TBL] [Abstract][Full Text] [Related]
3. Genetic test utilization and diagnostic yield in adult patients with neurological disorders.
Bardakjian TM; Helbig I; Quinn C; Elman LB; McCluskey LF; Scherer SS; Gonzalez-Alegre P
Neurogenetics; 2018 May; 19(2):105-110. PubMed ID: 29589152
[TBL] [Abstract][Full Text] [Related]
4. Cost-effectiveness of whole-exome sequencing in progressive neurological disorders of children.
Aaltio J; Hyttinen V; Kortelainen M; Frederix GWJ; Lönnqvist T; Suomalainen A; Isohanni P
Eur J Paediatr Neurol; 2022 Jan; 36():30-36. PubMed ID: 34852981
[TBL] [Abstract][Full Text] [Related]
5. 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]
6. Utility of Whole Exome Sequencing for Genetic Diagnosis of Previously Undiagnosed Pediatric Neurology Patients.
Kuperberg M; Lev D; Blumkin L; Zerem A; Ginsberg M; Linder I; Carmi N; Kivity S; Lerman-Sagie T; Leshinsky-Silver E
J Child Neurol; 2016 Dec; 31(14):1534-1539. PubMed ID: 27572814
[TBL] [Abstract][Full Text] [Related]
7. Whole Exome Sequencing in Pediatric Neurology Patients: Clinical Implications and Estimated Cost Analysis.
Nolan D; Carlson M
J Child Neurol; 2016 Jun; 31(7):887-94. PubMed ID: 26863999
[TBL] [Abstract][Full Text] [Related]
8. 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]
9. 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]
10. [Exome diagnostics in neurology].
Zech M; Wagner M; Schormair B; Oexle K; Winkelmann J
Nervenarzt; 2019 Feb; 90(2):131-137. PubMed ID: 30645660
[TBL] [Abstract][Full Text] [Related]
11. Reanalysis of exome negative patients with rare disease: a pragmatic workflow for diagnostic applications.
Schobers G; Schieving JH; Yntema HG; Pennings M; Pfundt R; Derks R; Hofste T; de Wijs I; Wieskamp N; van den Heuvel S; Galbany JC; Gilissen C; Nelen M; Brunner HG; Kleefstra T; Kamsteeg EJ; Willemsen MAAP; Vissers LELM
Genome Med; 2022 Jun; 14(1):66. PubMed ID: 35710456
[TBL] [Abstract][Full Text] [Related]
12. High efficiency and clinical relevance of exome sequencing in the daily practice of neurogenetics.
Thomas Q; Vitobello A; Tran Mau-Them F; Duffourd Y; Fromont A; Giroud M; Daubail B; Jacquin-Piques A; Hervieu-Begue M; Moreau T; Osseby GV; Garret P; Nambot S; Delanne J; Bruel AL; Sorlin A; Callier P; Denomme-Pichon AS; Faivre L; Béjot Y; Philippe C; Thauvin-Robinet C; Moutton S
J Med Genet; 2022 May; 59(5):445-452. PubMed ID: 34085946
[TBL] [Abstract][Full Text] [Related]
13. Cou Cou, flying fish and a whole exome please... lessons learned from genetic testing in Barbados.
Scantlebury MH; Barrett KT; Jacinto S; Corbin DOC; Kerr M; Khan A
Pan Afr Med J; 2021; 38():111. PubMed ID: 33912281
[TBL] [Abstract][Full Text] [Related]
14. Integrating exome sequencing into a diagnostic pathway for epileptic encephalopathy: Evidence of clinical utility and cost effectiveness.
Palmer EE; Schofield D; Shrestha R; Kandula T; Macintosh R; Lawson JA; Andrews I; Sampaio H; Johnson AM; Farrar MA; Cardamone M; Mowat D; Elakis G; Lo W; Zhu Y; Ying K; Morris P; Tao J; Dias KR; Buckley M; Dinger ME; Cowley MJ; Roscioli T; Kirk EP; Bye A; Sachdev RK
Mol Genet Genomic Med; 2018 Mar; 6(2):186-199. PubMed ID: 29314763
[TBL] [Abstract][Full Text] [Related]
15. Diagnostic yield of clinical exome sequencing as a first-tier genetic test for the diagnosis of genetic disorders in pediatric patients: results from a referral center study.
Mergnac JP; Wiedemann A; Chery C; Ravel JM; Namour F; Guéant JL; Feillet F; Oussalah A
Hum Genet; 2022 Jul; 141(7):1269-1278. PubMed ID: 34495415
[TBL] [Abstract][Full Text] [Related]
16. Yield of whole exome sequencing in undiagnosed patients facing insurance coverage barriers to genetic testing.
Reuter CM; Kohler JN; Bonner D; Zastrow D; Fernandez L; Dries A; Marwaha S; Davidson J; Brokamp E; Herzog M; Hong J; Macnamara E; Rosenfeld JA; Schoch K; Spillmann R; ; Loscalzo J; Krier J; Stoler J; Sweetser D; Palmer CGS; Phillips JA; Shashi V; Adams DA; Yang Y; Ashley EA; Fisher PG; Mulvihill JJ; Bernstein JA; Wheeler MT
J Genet Couns; 2019 Dec; 28(6):1107-1118. PubMed ID: 31478310
[TBL] [Abstract][Full Text] [Related]
17. 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]
18. Diagnostic exome sequencing in 100 consecutive patients with both epilepsy and intellectual disability.
Snoeijen-Schouwenaars FM; van Ool JS; Verhoeven JS; van Mierlo P; Braakman HMH; Smeets EE; Nicolai J; Schoots J; Teunissen MWA; Rouhl RPW; Tan IY; Yntema HG; Brunner HG; Pfundt R; Stegmann AP; Kamsteeg EJ; Schelhaas HJ; Willemsen MH
Epilepsia; 2019 Jan; 60(1):155-164. PubMed ID: 30525188
[TBL] [Abstract][Full Text] [Related]
19. Positioning whole exome sequencing in the diagnostic pathway for rare disease to optimise utility: a protocol for an observational cohort study and an economic evaluation.
Hayeems RZ; Bernier F; Boycott KM; Hartley T; Michaels-Igbokwe C; Marshall DA
BMJ Open; 2022 Oct; 12(10):e061468. PubMed ID: 36216418
[TBL] [Abstract][Full Text] [Related]
20. Exome and genome sequencing in adults with undiagnosed disease: a prospective cohort study.
Shickh S; Gutierrez Salazar M; Zakoor KR; Lázaro C; Gu J; Goltz J; Kleinman D; Noor A; Khalouei S; Mighton C; Reble E; Kodida R; Bombard Y; DiTroia S; Baxter S; Watkins N; Care M; Adler A; Horsburgh S; Morar O; Murphy J; Nevay DL; Szybowska M; Aronson M; Panchal S; Godoy R; Holter S; Randall Armel S; Semotiuk K; Elser C; Kim RH; Chitayat D; So J; Faghfoury H; Silver J; Morel CF; Lerner-Ellis J
J Med Genet; 2021 Apr; 58(4):275-283. PubMed ID: 32581083
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]