137 related articles for article (PubMed ID: 38271184)
1. Challenges and approaches to calibrating patient phenotype as evidence for cancer gene variant classification under ACMG/AMP guidelines.
Fortuno C; Michailidou K; Parsons M; Dolinsky JS; Pesaran T; Yussuf A; Mester JL; Hruska KS; Hiraki S; O'Connor R; Chan RC; Kim S; Tavtigian SV; Goldgar D; James PA; Spurdle AB
Hum Mol Genet; 2024 Apr; 33(8):724-732. PubMed ID: 38271184
[TBL] [Abstract][Full Text] [Related]
2. Differences in patient ascertainment affect the use of gene-specified ACMG/AMP phenotype-related variant classification criteria: Evidence for TP53.
Fortuno C; Pesaran T; Dolinsky J; Yussuf A; McGoldrick K; Goldgar D; James PA; Spurdle AB
Hum Mutat; 2020 Mar; 41(3):537-542. PubMed ID: 31898864
[TBL] [Abstract][Full Text] [Related]
3. 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]
4. 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]
5. 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]
6. Quantitative thresholds for variant enrichment in 13,845 cases: improving pathogenicity classification in genetic hearing loss.
Liu S; Zhong M; Huang Y; Zhang Q; Chen T; Xu X; Peng W; Wang X; Feng X; Kang L; Lu Y; Cheng J; Bu F; Yuan H
Genome Med; 2023 Dec; 15(1):116. PubMed ID: 38111038
[TBL] [Abstract][Full Text] [Related]
7. 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]
8. 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]
9. 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]
10. 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]
11. 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]
12. 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]
13. 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]
14. Clinical implications of VUS reclassification in a single-centre series from application of ACMG/AMP classification rules specified for
Innella G; Ferrari S; Miccoli S; Luppi E; Fortuno C; Parsons MT; Spurdle AB; Turchetti D
J Med Genet; 2024 Apr; 61(5):483-489. PubMed ID: 38160042
[TBL] [Abstract][Full Text] [Related]
15. 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]
16. 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]
17. 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]
18. A likelihood ratio approach for utilizing case-control data in the clinical classification of rare sequence variants: application to
Zanti M; O'Mahony DG; Parsons MT; Li H; Dennis J; Aittomäkkiki K; Andrulis IL; Anton-Culver H; Aronson KJ; Augustinsson A; Becher H; Bojesen SE; Bolla MK; Brenner H; Brown MA; Buys SS; Canzian F; Caputo SM; Castelao JE; Chang-Claude J; ; Czene K; Daly MB; De Nicolo A; Devilee P; Dörk T; Dunning AM; Dwek M; Eccles DM; Engel C; Evans DG; Fasching PA; Gago-Dominguez M; García-Closas M; García-Sáenz JA; Gentry-Maharaj A; Geurts-Giele WRR; Giles GG; Glendon G; Goldberg MS; Garcia EBG; Güendert M; Guénel P; Hahnen E; Haiman CA; Hall P; Hamann U; Harkness EF; Hogervorst FBL; Hollestelle A; Hoppe R; Hopper JL; Houdayer C; Houlston RS; Howell A; ; Jakimovska M; Jakubowska A; Jernström H; John EM; Kaaks R; Kitahara CM; Koutros S; Kraft P; Kristensen VN; Lacey JV; Lambrechts D; Léoné M; Lindblom A; Lubiński J; Lush M; Mannermaa A; Manoochehri M; Manoukian S; Margolin S; Martinez ME; Menon U; Milne RL; Monteiro AN; Murphy RA; Neuhausen SL; Nevanlinna H; Newman WG; Offit K; Park SK; James P; Peterlongo P; Peto J; Plaseska-Karanfilska D; Punie K; Radice P; Rashid MU; Rennert G; Romero A; Rosenberg EH; Saloustros E; Sandler DP; Schmidt MK; Schmutzler RK; Shu XO; Simard J; Southey MC; Stone J; Stoppa-Lyonnet D; Tamimi RM; Tapper WJ; Taylor JA; Teo SH; Teras LR; Terry MB; Thomassen M; Troester MA; Vachon CM; Vega A; Vreeswijk MPG; Wang Q; Wappenschmidt B; Weinberg CR; Wolk A; Zheng W; Feng B; Couch FJ; Spurdle AB; Easton DF; Goldgar DE; Michailidou K
Hum Mutat; 2023; 2023():. PubMed ID: 38725546
[TBL] [Abstract][Full Text] [Related]
19. 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]
20. Variant curation expert panel recommendations for RYR1 pathogenicity classifications in malignant hyperthermia susceptibility.
Johnston JJ; Dirksen RT; Girard T; Gonsalves SG; Hopkins PM; Riazi S; Saddic LA; Sambuughin N; Saxena R; Stowell K; Weber J; Rosenberg H; Biesecker LG
Genet Med; 2021 Jul; 23(7):1288-1295. PubMed ID: 33767344
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
