These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.


BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

285 related articles for article (PubMed ID: 31732716)

  • 21. Laboratory diagnosis of disorders of peroxisomal biogenesis and function: a technical standard of the American College of Medical Genetics and Genomics (ACMG).
    De Biase I; Tortorelli S; Kratz L; J Steinberg S; Cusmano-Ozog K; Braverman N;
    Genet Med; 2020 Apr; 22(4):686-697. PubMed ID: 31822849
    [TBL] [Abstract][Full Text] [Related]  

  • 22. American College of Medical Genetics and Genomics: standards and guidelines for documenting suspected consanguinity as an incidental finding of genomic testing.
    Rehder CW; David KL; Hirsch B; Toriello HV; Wilson CM; Kearney HM
    Genet Med; 2013 Feb; 15(2):150-2. PubMed ID: 23328890
    [TBL] [Abstract][Full Text] [Related]  

  • 23. The use of ACMG secondary findings recommendations for general population screening: a policy statement of the American College of Medical Genetics and Genomics (ACMG).
    ACMG Board of Directors
    Genet Med; 2019 Jul; 21(7):1467-1468. PubMed ID: 31019278
    [No Abstract]   [Full Text] [Related]  

  • 24. Laboratory screening and diagnosis of open neural tube defects, 2019 revision: a technical standard of the American College of Medical Genetics and Genomics (ACMG).
    Palomaki GE; Bupp C; Gregg AR; Norton ME; Oglesbee D; Best RG;
    Genet Med; 2020 Mar; 22(3):462-474. PubMed ID: 31700163
    [TBL] [Abstract][Full Text] [Related]  

  • 25. Clinical Next-Generation Sequencing Pipeline Outperforms a Combined Approach Using Sanger Sequencing and Multiplex Ligation-Dependent Probe Amplification in Targeted Gene Panel Analysis.
    Schenkel LC; Kerkhof J; Stuart A; Reilly J; Eng B; Woodside C; Levstik A; Howlett CJ; Rupar AC; Knoll JHM; Ainsworth P; Waye JS; Sadikovic B
    J Mol Diagn; 2016 Sep; 18(5):657-667. PubMed ID: 27376475
    [TBL] [Abstract][Full Text] [Related]  

  • 26. Consideration of disease penetrance in the selection of secondary findings gene-disease pairs: A policy statement of the American College of Medical Genetics and Genomics (ACMG).
    Gordon AS; Lee K; Abul-Husn NS; Amendola LM; Brothers K; Chung WK; Gollob MH; Harrison SM; Hershberger RE; Richards CS; Stewart DR; Martin CL; Miller DT;
    Genet Med; 2024 Jul; 26(7):101142. PubMed ID: 38819344
    [No Abstract]   [Full Text] [Related]  

  • 27. Recommendations for reporting of secondary findings in clinical exome and genome sequencing, 2016 update (ACMG SF v2.0): a policy statement of the American College of Medical Genetics and Genomics.
    Kalia SS; Adelman K; Bale SJ; Chung WK; Eng C; Evans JP; Herman GE; Hufnagel SB; Klein TE; Korf BR; McKelvey KD; Ormond KE; Richards CS; Vlangos CN; Watson M; Martin CL; Miller DT
    Genet Med; 2017 Feb; 19(2):249-255. PubMed ID: 27854360
    [TBL] [Abstract][Full Text] [Related]  

  • 28. Points to consider in the detection of germline structural variants using next-generation sequencing: A statement of the American College of Medical Genetics and Genomics (ACMG).
    Raca G; Astbury C; Behlmann A; De Castro MJ; Hickey SE; Karaca E; Lowther C; Riggs ER; Seifert BA; Thorland EC; Deignan JL;
    Genet Med; 2023 Feb; 25(2):100316. PubMed ID: 36507974
    [No Abstract]   [Full Text] [Related]  

  • 29. Technical laboratory standards for interpretation and reporting of acquired copy-number abnormalities and copy-neutral loss of heterozygosity in neoplastic disorders: a joint consensus recommendation from the American College of Medical Genetics and Genomics (ACMG) and the Cancer Genomics Consortium (CGC).
    Mikhail FM; Biegel JA; Cooley LD; Dubuc AM; Hirsch B; Horner VL; Newman S; Shao L; Wolff DJ; Raca G
    Genet Med; 2019 Sep; 21(9):1903-1916. PubMed ID: 31138931
    [TBL] [Abstract][Full Text] [Related]  

  • 30. Patient re-contact after revision of genomic test results: points to consider-a statement of the American College of Medical Genetics and Genomics (ACMG).
    David KL; Best RG; Brenman LM; Bush L; Deignan JL; Flannery D; Hoffman JD; Holm I; Miller DT; O'Leary J; Pyeritz RE;
    Genet Med; 2019 Apr; 21(4):769-771. PubMed ID: 30578420
    [No Abstract]   [Full Text] [Related]  

  • 31. Implementation, Evolution, and Laboratory Performance of Methods-Based Proficiency Testing for Next-Generation Sequencing Detection of Germline Sequence Variants.
    Tsuchiya KD; Funke B; Hegde M; Santani A; Souers RJ; Szelinger S; Halley J; Zhao Q; Mot N; Roy A; Smith VL; Zhang BM; Voelkerding K; Moyer AM
    Arch Pathol Lab Med; 2024 Jul; 148(7):775-783. PubMed ID: 37852169
    [TBL] [Abstract][Full Text] [Related]  

  • 32. Evaluation of laboratory perspectives on hereditary cancer panels.
    Stoll J; Weissman SM; Hook N; Selkirk C; Johnson AK; Newlin A; Vogel Postula KJ
    Fam Cancer; 2016 Oct; 15(4):689-96. PubMed ID: 26869169
    [TBL] [Abstract][Full Text] [Related]  

  • 33. Genetic testing for inherited colorectal cancer and polyposis, 2021 revision: a technical standard of the American College of Medical Genetics and Genomics (ACMG).
    Mao R; Krautscheid P; Graham RP; Ganguly A; Shankar S; Ferber M; Hegde M;
    Genet Med; 2021 Oct; 23(10):1807-1817. PubMed ID: 34140662
    [TBL] [Abstract][Full Text] [Related]  

  • 34. HBOC multi-gene panel testing: comparison of two sequencing centers.
    Schroeder C; Faust U; Sturm M; Hackmann K; Grundmann K; Harmuth F; Bosse K; Kehrer M; Benkert T; Klink B; Mackenroth L; Betcheva-Krajcir E; Wimberger P; Kast K; Heilig M; Nguyen HP; Riess O; Schröck E; Bauer P; Rump A
    Breast Cancer Res Treat; 2015 Jul; 152(1):129-136. PubMed ID: 26022348
    [TBL] [Abstract][Full Text] [Related]  

  • 35. Pediatric clinical exome/genome sequencing and the engagement process: encouraging active conversation with the older child and adolescent: points to consider-a statement of the American College of Medical Genetics and Genomics (ACMG).
    Bush LW; Bartoshesky LE; David KL; Wilfond B; Williams JL; Holm IA;
    Genet Med; 2018 Jul; 20(7):692-694. PubMed ID: 29565417
    [No Abstract]   [Full Text] [Related]  

  • 36. Next generation sequencing using phenotype-based panels for genetic testing in inherited retinal diseases.
    Shah M; Shanks M; Packham E; Williams J; Haysmoore J; MacLaren RE; Németh AH; Clouston P; Downes SM
    Ophthalmic Genet; 2020 Aug; 41(4):331-337. PubMed ID: 32543920
    [TBL] [Abstract][Full Text] [Related]  

  • 37. Development and Validation of Targeted Next-Generation Sequencing Panels for Detection of Germline Variants in Inherited Diseases.
    Santani A; Murrell J; Funke B; Yu Z; Hegde M; Mao R; Ferreira-Gonzalez A; Voelkerding KV; Weck KE
    Arch Pathol Lab Med; 2017 Jun; 141(6):787-797. PubMed ID: 28322587
    [TBL] [Abstract][Full Text] [Related]  

  • 38. Principles of analytical validation of next-generation sequencing based mutational analysis for hematologic neoplasms in a CLIA-certified laboratory.
    Kanagal-Shamanna R; Singh RR; Routbort MJ; Patel KP; Medeiros LJ; Luthra R
    Expert Rev Mol Diagn; 2016; 16(4):461-72. PubMed ID: 26765348
    [TBL] [Abstract][Full Text] [Related]  

  • 39. Targeted next-generation sequencing panels for monogenetic disorders in clinical diagnostics: the opportunities and challenges.
    de Koning TJ; Jongbloed JD; Sikkema-Raddatz B; Sinke RJ
    Expert Rev Mol Diagn; 2015 Jan; 15(1):61-70. PubMed ID: 25367078
    [TBL] [Abstract][Full Text] [Related]  

  • 40. Genetic Diagnostic Testing for Inherited Cardiomyopathies: Considerations for Offering Multi-Gene Tests in a Health Care Setting.
    Daoud H; Ghani M; Nfonsam L; Potter R; Ordorica S; Haslett V; Santos N; Derksen H; Lahey D; McGill M; Trudel V; Antoniuk B; Vasli N; Chisholm C; Mettler G; Sinclair-Bourque E; McGowan-Jordan J; Smith A; Roberts R; Jarinova O
    J Mol Diagn; 2019 May; 21(3):437-448. PubMed ID: 30731207
    [TBL] [Abstract][Full Text] [Related]  

    [Previous]   [Next]    [New Search]
    of 15.