Detalles de la búsqueda
1.
Pathogenic Germline Variants in 10,389 Adult Cancers.
Cell
; 173(2): 355-370.e14, 2018 04 05.
Artículo
en Inglés
| MEDLINE | ID: mdl-29625052
2.
Macrocephaly and developmental delay caused by missense variants in RAB5C.
Hum Mol Genet
; 32(21): 3063-3077, 2023 10 17.
Artículo
en Inglés
| MEDLINE | ID: mdl-37552066
3.
CIViCdb 2022: evolution of an open-access cancer variant interpretation knowledgebase.
Nucleic Acids Res
; 51(D1): D1230-D1241, 2023 01 06.
Artículo
en Inglés
| MEDLINE | ID: mdl-36373660
4.
Gene-specific ACMG/AMP classification criteria for germline APC variants: Recommendations from the ClinGen InSiGHT Hereditary Colorectal Cancer/Polyposis Variant Curation Expert Panel.
Genet Med
; 26(2): 100992, 2024 Feb.
Artículo
en Inglés
| MEDLINE | ID: mdl-37800450
5.
Specifications of the ACMG/AMP Variant Classification Guidelines for Germline DICER1 Variant Curation.
Hum Mutat
; 20232023.
Artículo
en Inglés
| MEDLINE | ID: mdl-38084291
6.
Clinical Genetics Lacks Standard Definitions and Protocols for the Collection and Use of Diversity Measures.
Am J Hum Genet
; 107(1): 72-82, 2020 07 02.
Artículo
en Inglés
| MEDLINE | ID: mdl-32504544
7.
Standards for the classification of pathogenicity of somatic variants in cancer (oncogenicity): Joint recommendations of Clinical Genome Resource (ClinGen), Cancer Genomics Consortium (CGC), and Variant Interpretation for Cancer Consortium (VICC).
Genet Med
; 24(5): 986-998, 2022 05.
Artículo
en Inglés
| MEDLINE | ID: mdl-35101336
8.
Variant interpretation is a component of clinical practice among genetic counselors in multiple specialties.
Genet Med
; 22(4): 785-792, 2020 04.
Artículo
en Inglés
| MEDLINE | ID: mdl-31754268
9.
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).
Genet Med
; 22(2): 245-257, 2020 02.
Artículo
en Inglés
| MEDLINE | ID: mdl-31690835
10.
Evaluation of the Impact of the Wound Treatment Associate (WTA) Education Program on Practice and Quality Patient Outcomes.
J Wound Ostomy Continence Nurs
; 47(1): 13-19, 2020.
Artículo
en Inglés
| MEDLINE | ID: mdl-31904622
11.
Determining the clinical validity of hereditary colorectal cancer and polyposis susceptibility genes using the Clinical Genome Resource Clinical Validity Framework.
Genet Med
; 21(7): 1507-1516, 2019 07.
Artículo
en Inglés
| MEDLINE | ID: mdl-30523343
12.
Clinical validity assessment of genes frequently tested on hereditary breast and ovarian cancer susceptibility sequencing panels.
Genet Med
; 21(7): 1497-1506, 2019 07.
Artículo
en Inglés
| MEDLINE | ID: mdl-30504931
13.
Integrating somatic variant data and biomarkers for germline variant classification in cancer predisposition genes.
Hum Mutat
; 39(11): 1542-1552, 2018 11.
Artículo
en Inglés
| MEDLINE | ID: mdl-30311369
14.
The clinical imperative for inclusivity: Race, ethnicity, and ancestry (REA) in genomics.
Hum Mutat
; 39(11): 1713-1720, 2018 11.
Artículo
en Inglés
| MEDLINE | ID: mdl-30311373
15.
Adapting crowdsourced clinical cancer curation in CIViC to the ClinGen minimum variant level data community-driven standards.
Hum Mutat
; 39(11): 1721-1732, 2018 11.
Artículo
en Inglés
| MEDLINE | ID: mdl-30311370
16.
Response to Spurdle et al.
Genet Med
; 25(8): 100869, 2023 Aug.
Artículo
en Inglés
| MEDLINE | ID: mdl-37261438
17.
Viral oncoprotein antibodies as a marker for recurrence of Merkel cell carcinoma: A prospective validation study.
Cancer
; 123(8): 1464-1474, 2017 04 15.
Artículo
en Inglés
| MEDLINE | ID: mdl-27925665
18.
Standards for the classification of pathogenicity of somatic variants in cancer (oncogenicity): Joint recommendations of Clinical Genome Resource (ClinGen), Cancer Genomics Consortium (CGC), and Variant Interpretation for Cancer Consortium (VICC).
Genet Med
; 24(9): 1991, 2022 Sep.
Artículo
en Inglés
| MEDLINE | ID: mdl-36063163
19.
Pharmacogenetic characterization of naturally occurring germline NT5C1A variants to chemotherapeutic nucleoside analogs.
Pharmacogenet Genomics
; 26(6): 271-9, 2016 06.
Artículo
en Inglés
| MEDLINE | ID: mdl-26906009
20.
Correction: 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).
Genet Med
; 23(11): 2230, 2021 Nov.
Artículo
en Inglés
| MEDLINE | ID: mdl-33731880