BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

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]
    of 9.