BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

146 related articles for article (PubMed ID: 34495415)

  • 1. 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]  

  • 2. Predictors of the utility of clinical exome sequencing as a first-tier genetic test in patients with Mendelian phenotypes: results from a referral center study on 603 consecutive cases.
    Alix T; Chéry C; Josse T; Bronowicki JP; Feillet F; Guéant-Rodriguez RM; Namour F; Guéant JL; Oussalah A
    Hum Genomics; 2023 Feb; 17(1):5. PubMed ID: 36740706
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Clinical exome sequencing for genetic identification of rare Mendelian disorders.
    Lee H; Deignan JL; Dorrani N; Strom SP; Kantarci S; Quintero-Rivera F; Das K; Toy T; Harry B; Yourshaw M; Fox M; Fogel BL; Martinez-Agosto JA; Wong DA; Chang VY; Shieh PB; Palmer CG; Dipple KM; Grody WW; Vilain E; Nelson SF
    JAMA; 2014 Nov; 312(18):1880-7. PubMed ID: 25326637
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Molecular findings among patients referred for clinical whole-exome sequencing.
    Yang Y; Muzny DM; Xia F; Niu Z; Person R; Ding Y; Ward P; Braxton A; Wang M; Buhay C; Veeraraghavan N; Hawes A; Chiang T; Leduc M; Beuten J; Zhang J; He W; Scull J; Willis A; Landsverk M; Craigen WJ; Bekheirnia MR; Stray-Pedersen A; Liu P; Wen S; Alcaraz W; Cui H; Walkiewicz M; Reid J; Bainbridge M; Patel A; Boerwinkle E; Beaudet AL; Lupski JR; Plon SE; Gibbs RA; Eng CM
    JAMA; 2014 Nov; 312(18):1870-9. PubMed ID: 25326635
    [TBL] [Abstract][Full Text] [Related]  

  • 5. 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]  

  • 6. 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]  

  • 7. Challenges of genetic diagnosis of inborn errors of metabolism in a major tertiary care center in Lebanon.
    Salman DO; Mahfouz R; Bitar ER; Samaha J; Karam PE
    Front Genet; 2022; 13():1029947. PubMed ID: 36468010
    [No Abstract]   [Full Text] [Related]  

  • 8. Effectiveness of clinical exome sequencing in adult patients with difficult-to-diagnose neurological disorders.
    Sainio MT; Aaltio J; Hyttinen V; Kortelainen M; Ojanen S; Paetau A; Tienari P; Ylikallio E; Auranen M; Tyynismaa H
    Acta Neurol Scand; 2022 Jan; 145(1):63-72. PubMed ID: 34418069
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Whole-exome sequencing as the first-tier test for patients in neonatal intensive care unit: a Chinese single-center study.
    Zhang R; Cui X; Zhang Y; Ma H; Gao J; Zhang Y; Shu J; Cai C; Liu Y
    BMC Pediatr; 2024 May; 24(1):351. PubMed ID: 38778310
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Exome sequencing as the first-tier test for pediatric respiratory diseases: A single-center study.
    Hao C; Guo R; Liu J; Hu X; Guo J; Yao Y; Zhao Z; Qi Z; Yin J; Chen L; Wang H; Xu B; Li W
    Hum Mutat; 2021 Jul; 42(7):891-900. PubMed ID: 33942430
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Genetics: Clinical exome sequencing in neurology practice.
    Miyatake S; Matsumoto N
    Nat Rev Neurol; 2014 Dec; 10(12):676-8. PubMed ID: 25366112
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Clinical exome sequencing findings in 1589 patients.
    Gorukmez O; Gorukmez O; Topak A
    Am J Med Genet A; 2023 Jun; 191(6):1557-1564. PubMed ID: 36964972
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Genome-Wide Sequencing for Unexplained Developmental Disabilities or Multiple Congenital Anomalies: A Health Technology Assessment.
    Ontario Health (Quality)
    Ont Health Technol Assess Ser; 2020; 20(11):1-178. PubMed ID: 32194879
    [TBL] [Abstract][Full Text] [Related]  

  • 14. 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]  

  • 15. Utility of clinical exome sequencing in a complex Emirati pediatric cohort.
    Mahfouz NA; Kizhakkedath P; Ibrahim A; El Naofal M; Ramaswamy S; Harilal D; Qutub Y; Uddin M; Taylor A; Alloub Z; AlBanna A; Abuhammour W; Fathalla B; Tayoun AA
    Comput Struct Biotechnol J; 2020; 18():1020-1027. PubMed ID: 32382396
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Clinical exome sequencing in 509 Middle Eastern families with suspected Mendelian diseases: The Qatari experience.
    Al-Dewik N; Mohd H; Al-Mureikhi M; Ali R; Al-Mesaifri F; Mahmoud L; Shahbeck N; El-Akouri K; Almulla M; Al Sulaiman R; Musa S; Al-Marri AA; Richard G; Juusola J; Solomon BD; Alkuraya FS; Ben-Omran T
    Am J Med Genet A; 2019 Jun; 179(6):927-935. PubMed ID: 30919572
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Expanding the Clinical and Genetic Spectra of Primary Immunodeficiency-Related Disorders With Clinical Exome Sequencing: Expected and Unexpected Findings.
    Rudilla F; Franco-Jarava C; Martínez-Gallo M; Garcia-Prat M; Martín-Nalda A; Rivière J; Aguiló-Cucurull A; Mongay L; Vidal F; Solanich X; Irastorza I; Santos-Pérez JL; Tercedor Sánchez J; Cuscó I; Serra C; Baz-Redón N; Fernández-Cancio M; Carreras C; Vagace JM; Garcia-Patos V; Pujol-Borrell R; Soler-Palacín P; Colobran R
    Front Immunol; 2019; 10():2325. PubMed ID: 31681265
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Combining Panel-Based Next-Generation Sequencing and Exome Sequencing for Genetic Liver Diseases.
    Chen CB; Hsu JS; Chen PL; Wu JF; Li HY; Liou BY; Chang MH; Ni YH; Hwu WL; Chien YH; Chou YY; Yang YJ; Lee NC; Chen HL
    J Pediatr; 2023 Jul; 258():113408. PubMed ID: 37019333
    [TBL] [Abstract][Full Text] [Related]  

  • 19. 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]  

  • 20. 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]  

    [Next]    [New Search]
    of 8.