312 related articles for article (PubMed ID: 33011440)
1. Improving Genetic Testing in Hereditary Cancer by RNA Analysis: Tools to Prioritize Splicing Studies and Challenges in Applying American College of Medical Genetics and Genomics Guidelines.
Rofes P; Menéndez M; González S; Tornero E; Gómez C; Vargas-Parra G; Montes E; Salinas M; Solanes A; Brunet J; Teulé A; Capellá G; Feliubadaló L; Del Valle J; Pineda M; Lázaro C
J Mol Diagn; 2020 Dec; 22(12):1453-1468. PubMed ID: 33011440
[TBL] [Abstract][Full Text] [Related]
2. 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]
3. Functional classification of DNA variants by hybrid minigenes: Identification of 30 spliceogenic variants of BRCA2 exons 17 and 18.
Fraile-Bethencourt E; Díez-Gómez B; Velásquez-Zapata V; Acedo A; Sanz DJ; Velasco EA
PLoS Genet; 2017 Mar; 13(3):e1006691. PubMed ID: 28339459
[TBL] [Abstract][Full Text] [Related]
4. Preconception Carrier Screening by Genome Sequencing: Results from the Clinical Laboratory.
Punj S; Akkari Y; Huang J; Yang F; Creason A; Pak C; Potter A; Dorschner MO; Nickerson DA; Robertson PD; Jarvik GP; Amendola LM; Schleit J; Simpson DK; Rope AF; Reiss J; Kauffman T; Gilmore MJ; Himes P; Wilfond B; Goddard KAB; Richards CS
Am J Hum Genet; 2018 Jun; 102(6):1078-1089. PubMed ID: 29754767
[TBL] [Abstract][Full Text] [Related]
5. 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]
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. 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]
8. High-Throughput Genetic Testing in ALS: The Challenging Path of Variant Classification Considering the ACMG Guidelines.
Lattante S; Marangi G; Doronzio PN; Conte A; Bisogni G; Zollino M; Sabatelli M
Genes (Basel); 2020 Sep; 11(10):. PubMed ID: 32987860
[TBL] [Abstract][Full Text] [Related]
9. [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]
10. Mis-splicing in breast cancer: identification of pathogenic BRCA2 variants by systematic minigene assays.
Fraile-Bethencourt E; Valenzuela-Palomo A; Díez-Gómez B; Goina E; Acedo A; Buratti E; Velasco EA
J Pathol; 2019 Aug; 248(4):409-420. PubMed ID: 30883759
[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. Comprehensive analysis and ACMG-based classification of CHEK2 variants in hereditary cancer patients.
Vargas-Parra G; Del Valle J; Rofes P; Gausachs M; Stradella A; Moreno-Cabrera JM; Velasco A; Tornero E; Menéndez M; Muñoz X; Iglesias S; López-Doriga A; Azuara D; Campos O; Cuesta R; Darder E; de Cid R; González S; Teulé A; Navarro M; Brunet J; Capellá G; Pineda M; Feliubadaló L; Lázaro C
Hum Mutat; 2020 Dec; 41(12):2128-2142. PubMed ID: 32906215
[TBL] [Abstract][Full Text] [Related]
13. Screening of
Montalban G; Bonache S; Moles-Fernández A; Gisbert-Beamud A; Tenés A; Bach V; Carrasco E; López-Fernández A; Stjepanovic N; Balmaña J; Diez O; Gutiérrez-Enríquez S
J Med Genet; 2019 Feb; 56(2):63-74. PubMed ID: 30472649
[TBL] [Abstract][Full Text] [Related]
14. 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]
15. A machine learning approach based on ACMG/AMP guidelines for genomic variant classification and prioritization.
Nicora G; Zucca S; Limongelli I; Bellazzi R; Magni P
Sci Rep; 2022 Feb; 12(1):2517. PubMed ID: 35169226
[TBL] [Abstract][Full Text] [Related]
16. 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]
17. Quantifying the potential of functional evidence to reclassify variants of uncertain significance in the categorical and Bayesian interpretation frameworks.
Brnich SE; Rivera-Muñoz EA; Berg JS
Hum Mutat; 2018 Nov; 39(11):1531-1541. PubMed ID: 30095857
[TBL] [Abstract][Full Text] [Related]
18. Minigene-based splicing analysis and ACMG/AMP-based tentative classification of 56 ATM variants.
Bueno-Martínez E; Sanoguera-Miralles L; Valenzuela-Palomo A; Esteban-Sánchez A; Lorca V; Llinares-Burguet I; Allen J; García-Álvarez A; Pérez-Segura P; Durán M; Easton DF; Devilee P; Vreeswijk MP; de la Hoya M; Velasco-Sampedro EA
J Pathol; 2022 Sep; 258(1):83-101. PubMed ID: 35716007
[TBL] [Abstract][Full Text] [Related]
19. Evaluation of ACMG-Guideline-Based Variant Classification of Cancer Susceptibility and Non-Cancer-Associated Genes in Families Affected by Breast Cancer.
Maxwell KN; Hart SN; Vijai J; Schrader KA; Slavin TP; Thomas T; Wubbenhorst B; Ravichandran V; Moore RM; Hu C; Guidugli L; Wenz B; Domchek SM; Robson ME; Szabo C; Neuhausen SL; Weitzel JN; Offit K; Couch FJ; Nathanson KL
Am J Hum Genet; 2016 May; 98(5):801-817. PubMed ID: 27153395
[TBL] [Abstract][Full Text] [Related]
20. Identification of Spliceogenic Variants beyond Canonical GT-AG Splice Sites in Hereditary Cancer Genes.
Dragoš VŠ; Strojnik K; Klančar G; Škerl P; Stegel V; Blatnik A; Banjac M; Krajc M; Novaković S
Int J Mol Sci; 2022 Jul; 23(13):. PubMed ID: 35806449
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
