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 *

240 related articles for article (PubMed ID: 31037860)

  • 1. Challenges and Considerations in Sequence Variant Interpretation for Mendelian Disorders.
    Kim YE; Ki CS; Jang MA
    Ann Lab Med; 2019 Sep; 39(5):421-429. PubMed ID: 31037860
    [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. 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]  

  • 4. ClinGen Pathogenicity Calculator: a configurable system for assessing pathogenicity of genetic variants.
    Patel RY; Shah N; Jackson AR; Ghosh R; Pawliczek P; Paithankar S; Baker A; Riehle K; Chen H; Milosavljevic S; Bizon C; Rynearson S; Nelson T; Jarvik GP; Rehm HL; Harrison SM; Azzariti D; Powell B; Babb L; Plon SE; Milosavljevic A;
    Genome Med; 2017 Jan; 9(1):3. PubMed ID: 28081714
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Clinical implications and considerations for evaluation of in silico algorithms for use with ACMG/AMP clinical variant interpretation guidelines.
    Bean LJH; Hegde MR
    Genome Med; 2017 Dec; 9(1):111. PubMed ID: 29254502
    [TBL] [Abstract][Full Text] [Related]  

  • 6. 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]  

  • 7. 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]  

  • 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. 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]  

  • 10. Determination of Pathogenicity of
    Brown A; Zamanpoor M; Love DR; Prosser DO
    Sultan Qaboos Univ Med J; 2019 Nov; 19(4):e324-e334. PubMed ID: 31897316
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Evaluation of in silico algorithms for use with ACMG/AMP clinical variant interpretation guidelines.
    Ghosh R; Oak N; Plon SE
    Genome Biol; 2017 Nov; 18(1):225. PubMed ID: 29179779
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Variant Interpretation for Dilated Cardiomyopathy: Refinement of the American College of Medical Genetics and Genomics/ClinGen Guidelines for the DCM Precision Medicine Study.
    Morales A; Kinnamon DD; Jordan E; Platt J; Vatta M; Dorschner MO; Starkey CA; Mead JO; Ai T; Burke W; Gastier-Foster J; Jarvik GP; Rehm HL; Nickerson DA; Hershberger RE; ;
    Circ Genom Precis Med; 2020 Apr; 13(2):e002480. PubMed ID: 32160020
    [TBL] [Abstract][Full Text] [Related]  

  • 13. CardioVAI: An automatic implementation of ACMG-AMP variant interpretation guidelines in the diagnosis of cardiovascular diseases.
    Nicora G; Limongelli I; Gambelli P; Memmi M; Malovini A; Mazzanti A; Napolitano C; Priori S; Bellazzi R
    Hum Mutat; 2018 Dec; 39(12):1835-1846. PubMed ID: 30298955
    [TBL] [Abstract][Full Text] [Related]  

  • 14. 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]  

  • 15. Overview of Specifications to the ACMG/AMP Variant Interpretation Guidelines.
    Harrison SM; Biesecker LG; Rehm HL
    Curr Protoc Hum Genet; 2019 Sep; 103(1):e93. PubMed ID: 31479589
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Expanding ACMG variant classification guidelines into a general framework.
    Masson E; Zou WB; Génin E; Cooper DN; Le Gac G; Fichou Y; Pu N; Rebours V; Férec C; Liao Z; Chen JM
    Hum Genomics; 2022 Aug; 16(1):31. PubMed ID: 35974416
    [TBL] [Abstract][Full Text] [Related]  

  • 17. 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]  

  • 18. 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]  

  • 19. ClinGen Variant Curation Expert Panel experiences and standardized processes for disease and gene-level specification of the ACMG/AMP guidelines for sequence variant interpretation.
    Rivera-Muñoz EA; Milko LV; Harrison SM; Azzariti DR; Kurtz CL; Lee K; Mester JL; Weaver MA; Currey E; Craigen W; Eng C; Funke B; Hegde M; Hershberger RE; Mao R; Steiner RD; Vincent LM; Martin CL; Plon SE; Ramos E; Rehm HL; Watson M; Berg JS
    Hum Mutat; 2018 Nov; 39(11):1614-1622. PubMed ID: 30311389
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Specifications of the ACMG/AMP variant curation guidelines for myocilin: Recommendations from the clingen glaucoma expert panel.
    Burdon KP; Graham P; Hadler J; Hulleman JD; Pasutto F; Boese EA; Craig JE; Fingert JH; Hewitt AW; Siggs OM; Whisenhunt K; Young TL; Mackey DA; Dubowsky A; Souzeau E
    Hum Mutat; 2022 Dec; 43(12):2170-2186. PubMed ID: 36217948
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 12.