BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

205 related articles for article (PubMed ID: 37907381)

  • 1. Variant Classification for Pompe disease; ACMG/AMP specifications from the ClinGen Lysosomal Diseases Variant Curation Expert Panel.
    Goldstein JL; McGlaughon J; Kanavy D; Goomber S; Pan Y; Deml B; Donti T; Kearns L; Seifert BA; Schachter M; Son RG; Thaxton C; Udani R; Bali D; Baudet H; Caggana M; Hung C; Kyriakopoulou L; Rosenblum L; Steiner R; Pinto E Vairo F; Wang Y; Watson M; Fernandez R; Weaver M; Clarke L; Rehder C
    Mol Genet Metab; 2023; 140(1-2):107715. PubMed ID: 37907381
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Disease-specific ACMG/AMP guidelines improve sequence variant interpretation for hearing loss.
    Patel MJ; DiStefano MT; Oza AM; Hughes MY; Wilcox EH; Hemphill SE; Cushman BJ; Grant AR; Siegert RK; Shen J; Chapin A; Boczek NJ; Schimmenti LA; Nara K; Kenna M; Azaiez H; Booth KT; Avraham KB; Kremer H; Griffith AJ; Rehm HL; Amr SS; Tayoun ANA;
    Genet Med; 2021 Nov; 23(11):2208-2212. PubMed ID: 34230634
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Evaluating ClinGen variant curation expert panels' application of PVS1 code.
    Wang X; Li H; Luo H; Zou Y; Li H; Qin Y; Song J
    Eur J Med Genet; 2024 Feb; 67():104909. PubMed ID: 38199457
    [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. Specifications of the ACMG/AMP Variant Classification Guidelines for Germline
    Hatton JN; Frone MN; Cox HC; Crowley SB; Hiraki S; Yokoyama NN; Abul-Husn NS; Amatruda JF; Anderson MJ; Bofill-De Ros X; Carr AG; Chao EC; Chen KS; Gu S; Higgs C; Machado J; Ritter D; Schultz KA; Soper ER; Wu MK; Mester JL; Kim J; Foulkes WD; Witkowski L; Stewart DR
    Hum Mutat; 2023; 2023():. PubMed ID: 38084291
    [TBL] [Abstract][Full Text] [Related]  

  • 6. 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]  

  • 7. 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]  

  • 8. 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]  

  • 9. Comparative analysis of functional assay evidence use by ClinGen Variant Curation Expert Panels.
    Kanavy DM; McNulty SM; Jairath MK; Brnich SE; Bizon C; Powell BC; Berg JS
    Genome Med; 2019 Nov; 11(1):77. PubMed ID: 31783775
    [TBL] [Abstract][Full Text] [Related]  

  • 10. ClinGen Myeloid Malignancy Variant Curation Expert Panel recommendations for germline RUNX1 variants.
    Luo X; Feurstein S; Mohan S; Porter CC; Jackson SA; Keel S; Chicka M; Brown AL; Kesserwan C; Agarwal A; Luo M; Li Z; Ross JE; Baliakas P; Pineda-Alvarez D; DiNardo CD; Bertuch AA; Mehta N; Vulliamy T; Wang Y; Nichols KE; Malcovati L; Walsh MF; Rawlings LH; McWeeney SK; Soulier J; Raimbault A; Routbort MJ; Zhang L; Ryan G; Speck NA; Plon SE; Wu D; Godley LA
    Blood Adv; 2019 Oct; 3(20):2962-2979. PubMed ID: 31648317
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Gene-specific ACMG/AMP classification criteria for germline APC variants: Recommendations from the ClinGen InSiGHT Hereditary Colorectal Cancer/Polyposis Variant Curation Expert Panel.
    Spier I; Yin X; Richardson M; Pineda M; Laner A; Ritter D; Boyle J; Mur P; Hansen TVO; Shi X; Mahmood K; Plazzer JP; Ognedal E; Nordling M; Farrington SM; Yamamoto G; Baert-Desurmont S; Martins A; Borras E; Tops C; Webb E; Beshay V; Genuardi M; Pesaran T; Capellá G; Tavtigian SV; Latchford A; Frayling IM; Plon SE; Greenblatt M; Macrae FA; Aretz S;
    Genet Med; 2024 Feb; 26(2):100992. PubMed ID: 37800450
    [TBL] [Abstract][Full Text] [Related]  

  • 12. 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]  

  • 13. ClinGen variant curation expert panel recommendations for classification of variants in GAMT, GATM and SLC6A8 for cerebral creatine deficiency syndromes.
    Goldstein J; Thomas-Wilson A; Groopman E; Aggarwal V; Bianconi S; Fernandez R; Hart K; Longo N; Liang N; Reich D; Wallis H; Weaver M; Young S; Mercimek-Andrews S
    Mol Genet Metab; 2024 May; 142(1):108362. PubMed ID: 38452609
    [TBL] [Abstract][Full Text] [Related]  

  • 14. ClinGen Variant Curation Interface: a variant classification platform for the application of evidence criteria from ACMG/AMP guidelines.
    Preston CG; Wright MW; Madhavrao R; Harrison SM; Goldstein JL; Luo X; Wand H; Wulf B; Cheung G; Mandell ME; Tong H; Cheng S; Iacocca MA; Pineda AL; Popejoy AB; Dalton K; Zhen J; Dwight SS; Babb L; DiStefano M; O'Daniel JM; Lee K; Riggs ER; Zastrow DB; Mester JL; Ritter DI; Patel RY; Subramanian SL; Milosavljevic A; Berg JS; Rehm HL; Plon SE; Cherry JM; Bustamante CD; Costa HA;
    Genome Med; 2022 Jan; 14(1):6. PubMed ID: 35039090
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Specifications of the variant curation guidelines for ITGA2B/ITGB3: ClinGen Platelet Disorder Variant Curation Panel.
    Ross JE; Zhang BM; Lee K; Mohan S; Branchford BR; Bray P; Dugan SN; Freson K; Heller PG; Kahr WHA; Lambert MP; Luchtman-Jones L; Luo M; Perez Botero J; Rondina MT; Ryan G; Westbury S; Bergmeier W; Di Paola J
    Blood Adv; 2021 Jan; 5(2):414-431. PubMed ID: 33496739
    [TBL] [Abstract][Full Text] [Related]  

  • 16. The Clinical Genome Resource (ClinGen) Familial Hypercholesterolemia Variant Curation Expert Panel consensus guidelines for LDLR variant classification.
    Chora JR; Iacocca MA; Tichý L; Wand H; Kurtz CL; Zimmermann H; Leon A; Williams M; Humphries SE; Hooper AJ; Trinder M; Brunham LR; Costa Pereira A; Jannes CE; Chen M; Chonis J; Wang J; Kim S; Johnston T; Soucek P; Kramarek M; Leigh SE; Carrié A; Sijbrands EJ; Hegele RA; Freiberger T; Knowles JW; Bourbon M;
    Genet Med; 2022 Feb; 24(2):293-306. PubMed ID: 34906454
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Specifications of the ACMG/AMP variant interpretation guidelines for germline TP53 variants.
    Fortuno C; Lee K; Olivier M; Pesaran T; Mai PL; de Andrade KC; Attardi LD; Crowley S; Evans DG; Feng BJ; Foreman AKM; Frone MN; Huether R; James PA; McGoldrick K; Mester J; Seifert BA; Slavin TP; Witkowski L; Zhang L; Plon SE; Spurdle AB; Savage SA;
    Hum Mutat; 2021 Mar; 42(3):223-236. PubMed ID: 33300245
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Development of a clinically validated
    Goomber S; Huggins E; Rehder CW; Cohen JL; Bali DS; Kishnani PS
    Front Genet; 2022; 13():1001154. PubMed ID: 36246652
    [No Abstract]   [Full Text] [Related]  

  • 19. Optimising clinical care through
    Luo X; Maciaszek JL; Thompson BA; Leong HS; Dixon K; Sousa S; Anderson M; Roberts ME; Lee K; Spurdle AB; Mensenkamp AR; Brannan T; Pardo C; Zhang L; Pesaran T; Wei S; Fasaye GA; Kesserwan C; Shirts BH; Davis JL; Oliveira C; Plon SE; Schrader KA; Karam R;
    J Med Genet; 2023 Jun; 60(6):568-575. PubMed ID: 36600593
    [TBL] [Abstract][Full Text] [Related]  

  • 20. 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]  

    [Next]    [New Search]
    of 11.