Detalhe da pesquisa
1.
Performance of ACMG-AMP Variant-Interpretation Guidelines among Nine Laboratories in the Clinical Sequencing Exploratory Research Consortium.
Am J Hum Genet
; 98(6): 1067-1076, 2016 06 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-27181684
2.
ACMG SF v3.1 list for reporting of secondary findings in clinical exome and genome sequencing: A policy statement of the American College of Medical Genetics and Genomics (ACMG).
Genet Med
; 24(7): 1407-1414, 2022 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-35802134
3.
Evidence for an association between infant mortality and homozygosity for the arctic variant of carnitine palmitoyltransferase 1A.
Genet Med
; 18(9): 933-9, 2016 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-26820065
4.
Performance of ACMG-AMP Variant-Interpretation Guidelines among Nine Laboratories in the Clinical Sequencing Exploratory Research Consortium.
Am J Hum Genet
; 99(1): 247, 2016 07 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-27392081
5.
Improving the efficiency and relevance of evidence-based recommendations in the era of whole-genome sequencing: an EGAPP methods update.
Genet Med
; 15(1): 14-24, 2013 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-22955111
6.
Approaches to carrier testing and results disclosure in translational genomics research: The clinical sequencing exploratory research consortium experience.
Mol Genet Genomic Med
; 6(6): 898-909, 2018 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-30133189
7.
Methods-based proficiency testing in molecular genetic pathology.
J Mol Diagn
; 16(3): 283-7, 2014 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-24650895
8.
Developing a sustainable process to provide quality control materials for genetic testing.
Genet Med
; 7(8): 534-49, 2005 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-16247292
9.
Standards and guidelines for CFTR mutation testing.
Genet Med
; 4(5): 379-91, 2002.
Artigo
em Inglês
| MEDLINE | ID: mdl-12394352