146 related articles for article (PubMed ID: 35868509)
1. Utility and Outcomes of the 2019 American College of Medical Genetics and Genomics-Clinical Genome Resource Guidelines for Interpretation of Copy Number Variants with Borderline Classifications at an Academic Clinical Diagnostic Laboratory.
Drackley A; Brew C; Wlodaver A; Spencer S; Leuer K; Rathbun P; Charrow J; Wieneke X; Yap KL; Ing A
J Mol Diagn; 2022 Oct; 24(10):1100-1111. PubMed ID: 35868509
[TBL] [Abstract][Full Text] [Related]
2. 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]
3. 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]
4. Adaptation of ACMG-ClinGen Technical Standards for Copy Number Variant Interpretation Concordance.
Zhang K; Lin G; Han D; Han Y; Peng R; Li J
Front Genet; 2022; 13():829728. PubMed ID: 35360839
[TBL] [Abstract][Full Text] [Related]
5. [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]
6. [Standards for the interpretation of constitutional copy number gain: Recommendation from the American College of Medical Genetics and Genomics (ACMG) and Clinical Genome Resource (ClinGen)].
Chen X; Shangguan S; Xie H; Liu H; Liu W; An Y; Shen Y
Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2022 Jan; 39(1):1-10. PubMed ID: 34964957
[TBL] [Abstract][Full Text] [Related]
7. 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]
8. The uncertainty of copy number variants: pregnancy decisions and clinical follow-up.
Shi P; Liang H; Hou Y; Chen D; Ren H; Wang C; Xia Y; Zhang D; Leigh D; Cram DS; Kong X
Am J Obstet Gynecol; 2023 Aug; 229(2):170.e1-170.e8. PubMed ID: 36716986
[TBL] [Abstract][Full Text] [Related]
9. Technical laboratory standards for interpretation and reporting of acquired copy-number abnormalities and copy-neutral loss of heterozygosity in neoplastic disorders: a joint consensus recommendation from the American College of Medical Genetics and Genomics (ACMG) and the Cancer Genomics Consortium (CGC).
Mikhail FM; Biegel JA; Cooley LD; Dubuc AM; Hirsch B; Horner VL; Newman S; Shao L; Wolff DJ; Raca G
Genet Med; 2019 Sep; 21(9):1903-1916. PubMed ID: 31138931
[TBL] [Abstract][Full Text] [Related]
10. AutoCNV: a semiautomatic CNV interpretation system based on the 2019 ACMG/ClinGen Technical Standards for CNVs.
Fan C; Wang Z; Sun Y; Sun J; Liu X; Kang L; Xu Y; Yang M; Dai W; Song L; Wei X; Xiang J; Huang H; Zhou M; Zeng F; Huang L; Xu Z; Peng Z
BMC Genomics; 2021 Oct; 22(1):721. PubMed ID: 34615484
[TBL] [Abstract][Full Text] [Related]
11. Tailoring the American College of Medical Genetics and Genomics and the Association for Molecular Pathology Guidelines for the Interpretation of Sequenced Variants in the
Muiño-Mosquera L; Steijns F; Audenaert T; Meerschaut I; De Paepe A; Steyaert W; Symoens S; Coucke P; Callewaert B; Renard M; De Backer J
Circ Genom Precis Med; 2018 Jun; 11(6):e002039. PubMed ID: 29875124
[TBL] [Abstract][Full Text] [Related]
12. 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]
13. Correspondence on "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)" by Riggs et al.
Spurdle AB; Drackley A; Ing A; Tudini E; Yap KL; Tavtigian SV
Genet Med; 2023 Aug; 25(8):100868. PubMed ID: 37261439
[No Abstract] [Full Text] [Related]
14. The Frequency of Discordant Variant Classification in the Human Gene Mutation Database: A Comparison of the American College of Medical Genetics and Genomics Guidelines and ClinVar.
Park KJ; Lee W; Chun S; Min WK
Lab Med; 2021 May; 52(3):250-259. PubMed ID: 32926152
[TBL] [Abstract][Full Text] [Related]
15. 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]
16. Preimplantation genetic testing (PGT) for copy number variants of uncertain significance (CNV- VUS) in the genomic era: to do or not to do?
Rotshenker-Olshinka K; Srebnik Moshe N; Weiss O; Shaviv S; Freireich O; Segel R; Zeligson S; Eldar-Geva T; Altarescu G
J Assist Reprod Genet; 2021 Mar; 38(3):719-725. PubMed ID: 33443723
[TBL] [Abstract][Full Text] [Related]
17. 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]
18. Clinical and laboratory reporting impact of ACMG-AMP and modified ClinGen variant classification frameworks in MYH7-related cardiomyopathy.
Richmond CM; James PA; Pantaleo SJ; Chong B; Lunke S; Tan TY; Macciocca I
Genet Med; 2021 Jun; 23(6):1108-1115. PubMed ID: 33568804
[TBL] [Abstract][Full Text] [Related]
19. Reinterpretation of sequence variants: one diagnostic laboratory's experience, and the need for standard guidelines.
Chisholm C; Daoud H; Ghani M; Mettler G; McGowan-Jordan J; Sinclair-Bourque L; Smith A; Jarinova O
Genet Med; 2018 Mar; 20(3):365-368. PubMed ID: 29240080
[TBL] [Abstract][Full Text] [Related]
20. 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]
[Next] [New Search]
