161 related articles for article (PubMed ID: 30212743)
1. Exome sequencing in adult neurology practice: Challenges and rewards in a mixed resource setting.
Nagappa M; Bindu PS; Sinha S; Mathuranath PS; Taly AB
Clin Neurol Neurosurg; 2018 Nov; 174():48-56. PubMed ID: 30212743
[TBL] [Abstract][Full Text] [Related]
2. Clinical application of next-generation sequencing to the practice of neurology.
Rexach J; Lee H; Martinez-Agosto JA; Németh AH; Fogel BL
Lancet Neurol; 2019 May; 18(5):492-503. PubMed ID: 30981321
[TBL] [Abstract][Full Text] [Related]
3. Monogenic and polygenic determinants of sarcoma risk: an international genetic study.
Ballinger ML; Goode DL; Ray-Coquard I; James PA; Mitchell G; Niedermayr E; Puri A; Schiffman JD; Dite GS; Cipponi A; Maki RG; Brohl AS; Myklebost O; Stratford EW; Lorenz S; Ahn SM; Ahn JH; Kim JE; Shanley S; Beshay V; Randall RL; Judson I; Seddon B; Campbell IG; Young MA; Sarin R; Blay JY; O'Donoghue SI; Thomas DM;
Lancet Oncol; 2016 Sep; 17(9):1261-71. PubMed ID: 27498913
[TBL] [Abstract][Full Text] [Related]
4. 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]
5. Targeted 46-gene and clinical exome sequencing for mutations causing cardiomyopathies.
Waldmüller S; Schroeder C; Sturm M; Scheffold T; Imbrich K; Junker S; Frische C; Hofbeck M; Bauer P; Bonin M; Gawaz M; Gramlich M
Mol Cell Probes; 2015 Oct; 29(5):308-14. PubMed ID: 25979592
[TBL] [Abstract][Full Text] [Related]
6. Targeted high throughput sequencing in hereditary ataxia and spastic paraplegia.
Iqbal Z; Rydning SL; Wedding IM; Koht J; Pihlstrøm L; Rengmark AH; Henriksen SP; Tallaksen CM; Toft M
PLoS One; 2017; 12(3):e0174667. PubMed ID: 28362824
[TBL] [Abstract][Full Text] [Related]
7. The clinical utility of exome sequencing and extended bioinformatic analyses in adolescents and adults with a broad range of neurological phenotypes: an Australian perspective.
Eratne D; Schneider A; Lynch E; Martyn M; Velakoulis D; Fahey M; Kwan P; Leventer R; Rafehi H; Chong B; Stark Z; Lunke S; Phelan DG; O'Keefe M; Siemering K; West K; Sexton A; Jarmolowicz A; Taylor JA; Schultz J; Purvis R; Uebergang E; Chalinor H; Creighton B; Gelfand N; Saks T; Prawer Y; Smagarinsky Y; Pan T; Goranitis I; Ademi Z; Gaff C; Huq A; Walsh M; James PA; Krzesinski EI; Wallis M; Stutterd CA; Bahlo M; Delatycki MB; Berkovic SF
J Neurol Sci; 2021 Jan; 420():117260. PubMed ID: 33310205
[TBL] [Abstract][Full Text] [Related]
8. Exome sequencing in the clinical diagnosis of sporadic or familial cerebellar ataxia.
Fogel BL; Lee H; Deignan JL; Strom SP; Kantarci S; Wang X; Quintero-Rivera F; Vilain E; Grody WW; Perlman S; Geschwind DH; Nelson SF
JAMA Neurol; 2014 Oct; 71(10):1237-46. PubMed ID: 25133958
[TBL] [Abstract][Full Text] [Related]
9. Multi-gene testing in neurological disorders showed an improved diagnostic yield: data from over 1000 Indian patients.
Ganapathy A; Mishra A; Soni MR; Kumar P; Sadagopan M; Kanthi AV; Patric IRP; George S; Sridharan A; Thyagarajan TC; Aswathy SL; Vidya HK; Chinnappa SM; Nayanala S; Prakash MB; Raghavendrachar VG; Parulekar M; Gowda VK; Nampoothiri S; Menon RN; Pachat D; Udani V; Naik N; Kamate M; Devi ARR; Mohammed Kunju PA; Nair M; Hegde AU; Kumar MP; Sundaram S; Tilak P; Puri RD; Shah K; Sheth J; Hasan Q; Sheth F; Agrawal P; Katragadda S; Veeramachaneni V; Chandru V; Hariharan R; Mannan AU
J Neurol; 2019 Aug; 266(8):1919-1926. PubMed ID: 31069529
[TBL] [Abstract][Full Text] [Related]
10. Identification of novel pathogenic variants and novel gene-phenotype correlations in Mexican subjects with microphthalmia and/or anophthalmia by next-generation sequencing.
Matías-Pérez D; García-Montaño LA; Cruz-Aguilar M; García-Montalvo IA; Nava-Valdéz J; Barragán-Arevalo T; Villanueva-Mendoza C; Villarroel CE; Guadarrama-Vallejo C; la Cruz RV; Chacón-Camacho O; Zenteno JC
J Hum Genet; 2018 Nov; 63(11):1169-1180. PubMed ID: 30181649
[TBL] [Abstract][Full Text] [Related]
11. Next-generation sequencing identifies monogenic diabetes in 16% of patients with late adolescence/adult-onset diabetes selected on a clinical basis: a cross-sectional analysis.
Donath X; Saint-Martin C; Dubois-Laforgue D; Rajasingham R; Mifsud F; Ciangura C; Timsit J; Bellanné-Chantelot C;
BMC Med; 2019 Jul; 17(1):132. PubMed ID: 31291970
[TBL] [Abstract][Full Text] [Related]
12. Next-generation sequencing using a pre-designed gene panel for the molecular diagnosis of congenital disorders in pediatric patients.
Lim EC; Brett M; Lai AH; Lee SP; Tan ES; Jamuar SS; Ng IS; Tan EC
Hum Genomics; 2015 Dec; 9():33. PubMed ID: 26666243
[TBL] [Abstract][Full Text] [Related]
13. 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]
14. 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]
15. Massively parallel sequencing and targeted exomes in familial kidney disease can diagnose underlying genetic disorders.
Mallett AJ; McCarthy HJ; Ho G; Holman K; Farnsworth E; Patel C; Fletcher JT; Mallawaarachchi A; Quinlan C; Bennetts B; Alexander SI
Kidney Int; 2017 Dec; 92(6):1493-1506. PubMed ID: 28844315
[TBL] [Abstract][Full Text] [Related]
16. Genetic etiology of progressive pediatric neurological disorders.
Aaltio J; Etula A; Ojanen S; Brilhante V; Lönnqvist T; Isohanni P; Suomalainen A
Pediatr Res; 2024 Jan; 95(1):102-111. PubMed ID: 37563452
[TBL] [Abstract][Full Text] [Related]
17. Genetic background of the hereditary spastic paraplegia phenotypes in Hungary - An analysis of 58 probands.
Balicza P; Grosz Z; Gonzalez MA; Bencsik R; Pentelenyi K; Gal A; Varga E; Klivenyi P; Koller J; Züchner S; Molnar JM
J Neurol Sci; 2016 May; 364():116-21. PubMed ID: 27084228
[TBL] [Abstract][Full Text] [Related]
18. Diagnostic exome sequencing of syndromic epilepsy patients in clinical practice.
Tumienė B; Maver A; Writzl K; Hodžić A; Čuturilo G; Kuzmanić-Šamija R; Čulić V; Peterlin B
Clin Genet; 2018 May; 93(5):1057-1062. PubMed ID: 29286531
[TBL] [Abstract][Full Text] [Related]
19. Mini-Exome Coupled to Read-Depth Based Copy Number Variation Analysis in Patients with Inherited Ataxias.
Marelli C; Guissart C; Hubsch C; Renaud M; Villemin JP; Larrieu L; Charles P; Ayrignac X; Sacconi S; Collignon P; Cuntz-Shadfar D; Perrin L; Benarrosh A; Degardin A; Lagha-Boukbiza O; Mutez E; Carlander B; Morales RJ; Gonzalez V; Carra-Dalliere C; Azakri S; Mignard C; Ollagnon E; Pageot N; Chretien D; Geny C; Azulay JP; Tranchant C; Claustres M; Labauge P; Anheim M; Goizet C; Calvas P; Koenig M
Hum Mutat; 2016 Dec; 37(12):1340-1353. PubMed ID: 27528516
[TBL] [Abstract][Full Text] [Related]
20. 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]
[Next] [New Search]