Detalhe da pesquisa
1.
Specifications of the ACMG/AMP guidelines for ACADVL variant interpretation.
Mol Genet Metab
; 140(3): 107668, 2023 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-37549443
2.
Development of Clinical Domain Working Groups for the Clinical Genome Resource (ClinGen): lessons learned and plans for the future.
Genet Med
; 21(4): 987-993, 2019 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-30181607
3.
Assessing the strength of evidence for genes implicated in fatty acid oxidation disorders using the ClinGen clinical validity framework.
Mol Genet Metab
; 128(1-2): 122-128, 2019.
Artigo
em Inglês
| MEDLINE | ID: mdl-31399326
4.
ClinGen Variant Curation Expert Panel experiences and standardized processes for disease and gene-level specification of the ACMG/AMP guidelines for sequence variant interpretation.
Hum Mutat
; 39(11): 1614-1622, 2018 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-30311389
5.
Unique aspects of sequence variant interpretation for inborn errors of metabolism (IEM): The ClinGen IEM Working Group and the Phenylalanine Hydroxylase Gene.
Hum Mutat
; 39(11): 1569-1580, 2018 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-30311390
6.
Evidence-based assessments of clinical actionability in the context of secondary findings: Updates from ClinGen's Actionability Working Group.
Hum Mutat
; 39(11): 1677-1685, 2018 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-30311382
7.
The Dynamics of a Genetic Counseling Peer Supervision Group.
J Genet Couns
; 26(3): 532-540, 2017 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-27618824
8.
Medical foods: inborn errors of metabolism and the reimbursement dilemma.
Genet Med
; 12(6): 364-9, 2010 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-20445457
9.
Effects of patents and licenses on the provision of clinical genetic testing services.
J Mol Diagn
; 5(1): 3-8, 2003 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-12552073
10.
A pilot survey on the licensing of DNA inventions.
J Law Med Ethics
; 31(3): 442-9, 2003.
Artigo
em Inglês
| MEDLINE | ID: mdl-14626552
11.
Genetics. DNA patenting and licensing.
Science
; 297(5585): 1279, 2002 Aug 23.
Artigo
em Inglês
| MEDLINE | ID: mdl-12193770