220 related articles for article (PubMed ID: 34411772)
1. DNA variant classification-reconsidering "allele rarity" and "phenotype" criteria in ACMG/AMP guidelines.
Davieson CD; Joyce KE; Sharma L; Shovlin CL
Eur J Med Genet; 2021 Oct; 64(10):104312. PubMed ID: 34411772
[TBL] [Abstract][Full Text] [Related]
2. 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]
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. Informing variant assessment using structured evidence from prior classifications (PS1, PM5, and PVS1 sequence variant interpretation criteria).
Bhat V; Adzhubei IA; Fife JD; Lebo M; Cassa CA
Genet Med; 2023 Jan; 25(1):16-26. PubMed ID: 36305854
[TBL] [Abstract][Full Text] [Related]
5. Using the ACMG/AMP framework to capture evidence related to predicted and observed impact on splicing: Recommendations from the ClinGen SVI Splicing Subgroup.
Walker LC; Hoya M; Wiggins GAR; Lindy A; Vincent LM; Parsons MT; Canson DM; Bis-Brewer D; Cass A; Tchourbanov A; Zimmermann H; Byrne AB; Pesaran T; Karam R; Harrison SM; Spurdle AB;
Am J Hum Genet; 2023 Jul; 110(7):1046-1067. PubMed ID: 37352859
[TBL] [Abstract][Full Text] [Related]
6. 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]
7. AutoPVS1: An automatic classification tool for PVS1 interpretation of null variants.
Xiang J; Peng J; Baxter S; Peng Z
Hum Mutat; 2020 Sep; 41(9):1488-1498. PubMed ID: 32442321
[TBL] [Abstract][Full Text] [Related]
8. [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]
9. Alternative splicing and ACMG-AMP-2015-based classification of PALB2 genetic variants: an ENIGMA report.
Lopez-Perolio I; Leman R; Behar R; Lattimore V; Pearson JF; Castéra L; Martins A; Vaur D; Goardon N; Davy G; Garre P; García-Barberán V; Llovet P; Pérez-Segura P; Díaz-Rubio E; Caldés T; Hruska KS; Hsuan V; Wu S; Pesaran T; Karam R; Vallon-Christersson J; Borg A; ; Valenzuela-Palomo A; Velasco EA; Southey M; Vreeswijk MPG; Devilee P; Kvist A; Spurdle AB; Walker LC; Krieger S; de la Hoya M
J Med Genet; 2019 Jul; 56(7):453-460. PubMed ID: 30890586
[TBL] [Abstract][Full Text] [Related]
10. Updated recommendation for the benign stand-alone ACMG/AMP criterion.
Ghosh R; Harrison SM; Rehm HL; Plon SE; Biesecker LG;
Hum Mutat; 2018 Nov; 39(11):1525-1530. PubMed ID: 30311383
[TBL] [Abstract][Full Text] [Related]
11. Gene-specific criteria for PTEN variant curation: Recommendations from the ClinGen PTEN Expert Panel.
Mester JL; Ghosh R; Pesaran T; Huether R; Karam R; Hruska KS; Costa HA; Lachlan K; Ngeow J; Barnholtz-Sloan J; Sesock K; Hernandez F; Zhang L; Milko L; Plon SE; Hegde M; Eng C
Hum Mutat; 2018 Nov; 39(11):1581-1592. PubMed ID: 30311380
[TBL] [Abstract][Full Text] [Related]
12. 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]
13. 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]
14. 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]
15. 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]
16. 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]
17. Good performance of the criteria of American College of Medical Genetics and Genomics/Association for Molecular Pathology in prediction of pathogenicity of genetic variants causing thoracic aortic aneurysms and dissections.
Ponińska JK; Bilińska ZT; Truszkowska G; Michalak E; Podgórska A; Stępień-Wojno M; Chmielewski P; Lutyńska A; Płoski R
J Transl Med; 2022 Jan; 20(1):42. PubMed ID: 35078481
[TBL] [Abstract][Full Text] [Related]
18. 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]
19. 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]
20. Specifications of the ACMG/AMP variant curation guidelines for the analysis of germline
Richardson ME; Holdren M; Brannan T; de la Hoya M; Spurdle AB; Tavtigian SV; Young CC; Zec L; Hiraki S; Anderson MJ; Walker LC; McNulty S; Turnbull C; Tischkowitz M; Schon K; Slavin T; Foulkes WD; Cline M; Monteiro AN; Pesaran T; Couch FJ
medRxiv; 2024 May; ():. PubMed ID: 38854136
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
