BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

125 related articles for article (PubMed ID: 38837338)

  • 21. A prospective evaluation of whole-exome sequencing as a first-tier molecular test in infants with suspected monogenic disorders.
    Stark Z; Tan TY; Chong B; Brett GR; Yap P; Walsh M; Yeung A; Peters H; Mordaunt D; Cowie S; Amor DJ; Savarirayan R; McGillivray G; Downie L; Ekert PG; Theda C; James PA; Yaplito-Lee J; Ryan MM; Leventer RJ; Creed E; Macciocca I; Bell KM; Oshlack A; Sadedin S; Georgeson P; Anderson C; Thorne N; Melbourne Genomics Health Alliance ; Gaff C; White SM
    Genet Med; 2016 Nov; 18(11):1090-1096. PubMed ID: 26938784
    [TBL] [Abstract][Full Text] [Related]  

  • 22. Genetic determinants of global developmental delay and intellectual disability in Ukrainian children.
    Shchubelka K; Turova L; Wolfsberger W; Kalanquin K; Williston K; Kurutsa O; Makovetska A; Hasynets Y; Mirutenko V; Vakerych M; Oleksyk TK
    J Neurodev Disord; 2024 Mar; 16(1):13. PubMed ID: 38539105
    [TBL] [Abstract][Full Text] [Related]  

  • 23. Incidentally identified genetic variants in arrhythmogenic right ventricular cardiomyopathy-associated genes among children undergoing exome sequencing reflect healthy population variation.
    Headrick AT; Rosenfeld JA; Yang Y; Tunuguntla H; Allen HD; Penny DJ; Kim JJ; Landstrom AP
    Mol Genet Genomic Med; 2019 Jun; 7(6):e593. PubMed ID: 30985088
    [TBL] [Abstract][Full Text] [Related]  

  • 24. Panel-Based Exome Sequencing for Neuromuscular Disorders as a Diagnostic Service.
    Westra D; Schouten MI; Stunnenberg BC; Kusters B; Saris CGJ; Erasmus CE; van Engelen BG; Bulk S; Verschuuren-Bemelmans CC; Gerkes EH; de Geus C; van der Zwaag PA; Chan S; Chung B; Barge-Schaapveld DQCM; Kriek M; Sznajer Y; van Spaendonck-Zwarts K; van der Kooi AJ; Krause A; Schönewolf-Greulich B; de Die-Smulders C; Sallevelt SCEH; Krapels IPC; Rasmussen M; Maystadt I; Kievit AJA; Witting N; Pennings M; Meijer R; Gillissen C; Kamsteeg EJ; Voermans NC
    J Neuromuscul Dis; 2019; 6(2):241-258. PubMed ID: 31127727
    [TBL] [Abstract][Full Text] [Related]  

  • 25. Clinical Diagnosis of Mendelian Disorders Using a Comprehensive Gene-Targeted Panel Test for Next-Generation Sequencing.
    Okazaki T; Murata M; Kai M; Adachi K; Nakagawa N; Kasagi N; Matsumura W; Maegaki Y; Nanba E
    Yonago Acta Med; 2016 Jun; 59(2):118-25. PubMed ID: 27493482
    [TBL] [Abstract][Full Text] [Related]  

  • 26. Cost-Effectiveness of Whole-Genome vs Whole-Exome Sequencing Among Children With Suspected Genetic Disorders.
    Nurchis MC; Radio FC; Salmasi L; Heidar Alizadeh A; Raspolini GM; Altamura G; Tartaglia M; Dallapiccola B; Pizzo E; Gianino MM; Damiani G
    JAMA Netw Open; 2024 Jan; 7(1):e2353514. PubMed ID: 38277144
    [TBL] [Abstract][Full Text] [Related]  

  • 27. Exome Sequencing in a Family with Luminal-Type Breast Cancer Underpinned by Variation in the Methylation Pathway.
    van der Merwe N; Peeters AV; Pienaar FM; Bezuidenhout J; van Rensburg SJ; Kotze MJ
    Int J Mol Sci; 2017 Feb; 18(2):. PubMed ID: 28241424
    [TBL] [Abstract][Full Text] [Related]  

  • 28. Application of Whole Exome and Targeted Panel Sequencing in the Clinical Molecular Diagnosis of 319 Chinese Families with Inherited Retinal Dystrophy and Comparison Study.
    Wang L; Zhang J; Chen N; Wang L; Zhang F; Ma Z; Li G; Yang L
    Genes (Basel); 2018 Jul; 9(7):. PubMed ID: 30029497
    [TBL] [Abstract][Full Text] [Related]  

  • 29. The combination of whole-exome sequencing and copy number variation sequencing enables the diagnosis of rare neurological disorders.
    Jiao Q; Sun H; Zhang H; Wang R; Li S; Sun D; Yang XA; Jin Y
    Clin Genet; 2019 Aug; 96(2):140-150. PubMed ID: 30945278
    [TBL] [Abstract][Full Text] [Related]  

  • 30. 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]  

  • 31. Targeted whole exome sequencing and Drosophila modelling to unveil the molecular basis of primary ovarian insufficiency.
    Bestetti I; Barbieri C; Sironi A; Specchia V; Yatsenko SA; De Donno MD; Caslini C; Gentilini D; Crippa M; Larizza L; Marozzi A; Rajkovic A; Toniolo D; Bozzetti MP; Finelli P
    Hum Reprod; 2021 Oct; 36(11):2975-2991. PubMed ID: 34480478
    [TBL] [Abstract][Full Text] [Related]  

  • 32. Amino acid-level signal-to-noise analysis of incidentally identified variants in genes associated with long QT syndrome during pediatric whole exome sequencing reflects background genetic noise.
    Landstrom AP; Fernandez E; Rosenfeld JA; Yang Y; Dailey-Schwartz AL; Miyake CY; Allen HD; Penny DJ; Kim JJ
    Heart Rhythm; 2018 Jul; 15(7):1042-1050. PubMed ID: 29501670
    [TBL] [Abstract][Full Text] [Related]  

  • 33. Clinical and genetic spectra of 1550 index patients with hereditary spastic paraplegia.
    Méreaux JL; Banneau G; Papin M; Coarelli G; Valter R; Raymond L; Kol B; Ariste O; Parodi L; Tissier L; Mairey M; Ait Said S; Gautier C; Guillaud-Bataille M; ; Forlani S; de la Grange P; Brice A; Vazza G; Durr A; Leguern E; Stevanin G
    Brain; 2022 Apr; 145(3):1029-1037. PubMed ID: 34983064
    [TBL] [Abstract][Full Text] [Related]  

  • 34. [Clinical pathway on pediatric cardiomyopathies: a genetic testing strategy proposed by the Italian Society of Pediatric Cardiology].
    Girolami F; Iascone M; Pezzoli L; Passantino S; Limongelli G; Monda E; Rubino M; Adorisio R; Lombardi M; Ragni L; Olivotto I; Favilli S;
    G Ital Cardiol (Rome); 2022 Jul; 23(7):505-515. PubMed ID: 35771016
    [TBL] [Abstract][Full Text] [Related]  

  • 35. A multi-laboratory assessment of clinical exome sequencing for detection of hereditary disease variants: 4441 ClinVar variants for clinical genomic test development and validation.
    Zhang K; Yu L; Lin G; Li J
    Clin Chim Acta; 2022 Oct; 535():99-107. PubMed ID: 35985503
    [TBL] [Abstract][Full Text] [Related]  

  • 36. Application of whole exome sequencing in undiagnosed inherited polyneuropathies.
    Klein CJ; Middha S; Duan X; Wu Y; Litchy WJ; Gu W; Dyck PJ; Gavrilova RH; Smith DI; Kocher JP; Dyck PJ
    J Neurol Neurosurg Psychiatry; 2014 Nov; 85(11):1265-72. PubMed ID: 24604904
    [TBL] [Abstract][Full Text] [Related]  

  • 37. Rates and Classification of Variants of Uncertain Significance in Hereditary Disease Genetic Testing.
    Chen E; Facio FM; Aradhya KW; Rojahn S; Hatchell KE; Aguilar S; Ouyang K; Saitta S; Hanson-Kwan AK; Capurro NN; Takamine E; Jamuar SS; McKnight D; Johnson B; Aradhya S
    JAMA Netw Open; 2023 Oct; 6(10):e2339571. PubMed ID: 37878314
    [TBL] [Abstract][Full Text] [Related]  

  • 38. Prospective Evaluation of the Utility of Whole Exome Sequencing in Dilated Cardiomyopathy.
    Ramchand J; Wallis M; Macciocca I; Lynch E; Farouque O; Martyn M; Phelan D; Chong B; Lockwood S; Weintraub R; Thompson T; Trainer A; Zentner D; Vohra J; Chetrit M; Hare DL; James P
    J Am Heart Assoc; 2020 Jan; 9(2):e013346. PubMed ID: 31931689
    [TBL] [Abstract][Full Text] [Related]  

  • 39. Use of Whole-Exome Sequencing for Diagnosis of Limb-Girdle Muscular Dystrophy: Outcomes and Lessons Learned.
    Ghaoui R; Cooper ST; Lek M; Jones K; Corbett A; Reddel SW; Needham M; Liang C; Waddell LB; Nicholson G; O'Grady G; Kaur S; Ong R; Davis M; Sue CM; Laing NG; North KN; MacArthur DG; Clarke NF
    JAMA Neurol; 2015 Dec; 72(12):1424-32. PubMed ID: 26436962
    [TBL] [Abstract][Full Text] [Related]  

  • 40. WEScover: selection between clinical whole exome sequencing and gene panel testing.
    Lee IH; Lin Y; Alvarez WJ; Hernandez-Ferrer C; Mandl KD; Kong SW
    BMC Bioinformatics; 2021 May; 22(1):259. PubMed ID: 34016036
    [TBL] [Abstract][Full Text] [Related]  

    [Previous]   [Next]    [New Search]
    of 7.