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 *

722 related articles for article (PubMed ID: 31534211)

  • 1. Adapting ACMG/AMP sequence variant classification guidelines for single-gene copy number variants.
    Brandt T; Sack LM; Arjona D; Tan D; Mei H; Cui H; Gao H; Bean LJH; Ankala A; Del Gaudio D; Knight Johnson A; Vincent LM; Reavey C; Lai A; Richard G; Meck JM
    Genet Med; 2020 Feb; 22(2):336-344. PubMed ID: 31534211
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Performance of ACMG-AMP Variant-Interpretation Guidelines among Nine Laboratories in the Clinical Sequencing Exploratory Research Consortium.
    Amendola LM; Jarvik GP; Leo MC; McLaughlin HM; Akkari Y; Amaral MD; Berg JS; Biswas S; Bowling KM; Conlin LK; Cooper GM; Dorschner MO; Dulik MC; Ghazani AA; Ghosh R; Green RC; Hart R; Horton C; Johnston JJ; Lebo MS; Milosavljevic A; Ou J; Pak CM; Patel RY; Punj S; Richards CS; Salama J; Strande NT; Yang Y; Plon SE; Biesecker LG; Rehm HL
    Am J Hum Genet; 2016 Jun; 98(6):1067-1076. PubMed ID: 27181684
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen).
    Riggs ER; Andersen EF; Cherry AM; Kantarci S; Kearney H; Patel A; Raca G; Ritter DI; South ST; Thorland EC; Pineda-Alvarez D; Aradhya S; Martin CL
    Genet Med; 2020 Feb; 22(2):245-257. PubMed ID: 31690835
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Specifications of the ACMG/AMP variant curation guidelines for the analysis of germline CDH1 sequence variants.
    Lee K; Krempely K; Roberts ME; Anderson MJ; Carneiro F; Chao E; Dixon K; Figueiredo J; Ghosh R; Huntsman D; Kaurah P; Kesserwan C; Landrith T; Li S; Mensenkamp AR; Oliveira C; Pardo C; Pesaran T; Richardson M; Slavin TP; Spurdle AB; Trapp M; Witkowski L; Yi CS; Zhang L; Plon SE; Schrader KA; Karam R
    Hum Mutat; 2018 Nov; 39(11):1553-1568. PubMed ID: 30311375
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Clinical Interpretation of Sequence Variants.
    Zhang J; Yao Y; He H; Shen J
    Curr Protoc Hum Genet; 2020 Jun; 106(1):e98. PubMed ID: 32176464
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Modeling the ACMG/AMP variant classification guidelines as a Bayesian classification framework.
    Tavtigian SV; Greenblatt MS; Harrison SM; Nussbaum RL; Prabhu SA; Boucher KM; Biesecker LG;
    Genet Med; 2018 Sep; 20(9):1054-1060. PubMed ID: 29300386
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Variant Classification Concordance using the ACMG-AMP Variant Interpretation Guidelines across Nine Genomic Implementation Research Studies.
    Amendola LM; Muenzen K; Biesecker LG; Bowling KM; Cooper GM; Dorschner MO; Driscoll C; Foreman AKM; Golden-Grant K; Greally JM; Hindorff L; Kanavy D; Jobanputra V; Johnston JJ; Kenny EE; McNulty S; Murali P; Ou J; Powell BC; Rehm HL; Rolf B; Roman TS; Van Ziffle J; Guha S; Abhyankar A; Crosslin D; Venner E; Yuan B; Zouk H; ; Jarvik GP
    Am J Hum Genet; 2020 Nov; 107(5):932-941. PubMed ID: 33108757
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Expert specification of the ACMG/AMP variant interpretation guidelines for genetic hearing loss.
    Oza AM; DiStefano MT; Hemphill SE; Cushman BJ; Grant AR; Siegert RK; Shen J; Chapin A; Boczek NJ; Schimmenti LA; Murry JB; Hasadsri L; Nara K; Kenna M; Booth KT; Azaiez H; Griffith A; Avraham KB; Kremer H; Rehm HL; Amr SS; Abou Tayoun AN;
    Hum Mutat; 2018 Nov; 39(11):1593-1613. PubMed ID: 30311386
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Recommendations for interpreting the loss of function PVS1 ACMG/AMP variant criterion.
    Abou Tayoun AN; Pesaran T; DiStefano MT; Oza A; Rehm HL; Biesecker LG; Harrison SM;
    Hum Mutat; 2018 Nov; 39(11):1517-1524. PubMed ID: 30192042
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria.
    Nykamp K; Anderson M; Powers M; Garcia J; Herrera B; Ho YY; Kobayashi Y; Patil N; Thusberg J; Westbrook M; ; Topper S
    Genet Med; 2017 Oct; 19(10):1105-1117. PubMed ID: 28492532
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Quantifying the potential of functional evidence to reclassify variants of uncertain significance in the categorical and Bayesian interpretation frameworks.
    Brnich SE; Rivera-Muñoz EA; Berg JS
    Hum Mutat; 2018 Nov; 39(11):1531-1541. PubMed ID: 30095857
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.
    Richards S; Aziz N; Bale S; Bick D; Das S; Gastier-Foster J; Grody WW; Hegde M; Lyon E; Spector E; Voelkerding K; Rehm HL;
    Genet Med; 2015 May; 17(5):405-24. PubMed ID: 25741868
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Consideration of Cosegregation in the Pathogenicity Classification of Genomic Variants.
    Jarvik GP; Browning BL
    Am J Hum Genet; 2016 Jun; 98(6):1077-1081. PubMed ID: 27236918
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Navigating the nuances of clinical sequence variant interpretation in Mendelian disease.
    Strande NT; Brnich SE; Roman TS; Berg JS
    Genet Med; 2018 Sep; 20(9):918-926. PubMed ID: 29988079
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Adapting the ACMG/AMP variant classification framework: A perspective from the ClinGen Hemoglobinopathy Variant Curation Expert Panel.
    Kountouris P; Stephanou C; Lederer CW; Traeger-Synodinos J; Bento C; Harteveld CL; Fylaktou E; Koopmann TT; Halim-Fikri H; Michailidou K; Nfonsam LE; Waye JS; Zilfalil BA; Kleanthous M;
    Hum Mutat; 2022 Aug; 43(8):1089-1096. PubMed ID: 34510646
    [TBL] [Abstract][Full Text] [Related]  

  • 16. The current state of clinical interpretation of sequence variants.
    Hoskinson DC; Dubuc AM; Mason-Suares H
    Curr Opin Genet Dev; 2017 Feb; 42():33-39. PubMed ID: 28157586
    [TBL] [Abstract][Full Text] [Related]  

  • 17. [The updates of the ACMG variant interpretation guidelines affect the pathogenicity determination of
    Wu KL; Li J; Wang HY; Wang QJ
    Zhonghua Er Bi Yan Hou Tou Jing Wai Ke Za Zhi; 2024 May; 59(5):455-463. PubMed ID: 38811176
    [No Abstract]   [Full Text] [Related]  

  • 18. ClinGen's RASopathy Expert Panel consensus methods for variant interpretation.
    Gelb BD; Cavé H; Dillon MW; Gripp KW; Lee JA; Mason-Suares H; Rauen KA; Williams B; Zenker M; Vincent LM;
    Genet Med; 2018 Nov; 20(11):1334-1345. PubMed ID: 29493581
    [TBL] [Abstract][Full Text] [Related]  

  • 19. [A large-scale retrospective analysis of copy number variations in single center using ACMG-ClinGen latest guidelines].
    Zhang Y; Xue J; Yan L; Liu Y; Zhuang D; Xie M; Chen Y; An Y; Shen Y; Li H
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2022 Aug; 39(8):814-818. PubMed ID: 35929928
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Improving Genetic Testing in Hereditary Cancer by RNA Analysis: Tools to Prioritize Splicing Studies and Challenges in Applying American College of Medical Genetics and Genomics Guidelines.
    Rofes P; Menéndez M; González S; Tornero E; Gómez C; Vargas-Parra G; Montes E; Salinas M; Solanes A; Brunet J; Teulé A; Capellá G; Feliubadaló L; Del Valle J; Pineda M; Lázaro C
    J Mol Diagn; 2020 Dec; 22(12):1453-1468. PubMed ID: 33011440
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 37.