Detalhe da pesquisa
1.
Polygenic Prediction of Weight and Obesity Trajectories from Birth to Adulthood.
Cell
; 177(3): 587-596.e9, 2019 04 18.
Artigo
Inglês
| MEDLINE | ID: mdl-31002795
2.
Toward robust clinical genome interpretation: Developing a consistent terminology to characterize Mendelian disease-gene relationships-allelic requirement, inheritance modes, and disease mechanisms.
Genet Med
; 26(2): 101029, 2024 Feb.
Artigo
Inglês
| MEDLINE | ID: mdl-37982373
3.
Utilizing ClinGen gene-disease validity and dosage sensitivity curations to inform variant classification.
Hum Mutat
; 43(8): 1031-1040, 2022 08.
Artigo
Inglês
| MEDLINE | ID: mdl-34694049
4.
Clinical evaluation and etiologic diagnosis of hearing loss: A clinical practice resource of the American College of Medical Genetics and Genomics (ACMG).
Genet Med
; 24(7): 1392-1406, 2022 07.
Artigo
Inglês
| MEDLINE | ID: mdl-35802133
5.
The ClinGen Brain Malformation Variant Curation Expert Panel: Rules for somatic variants in AKT3, MTOR, PIK3CA, and PIK3R2.
Genet Med
; 24(11): 2240-2248, 2022 11.
Artigo
Inglês
| MEDLINE | ID: mdl-35997716
6.
The Gene Curation Coalition: A global effort to harmonize gene-disease evidence resources.
Genet Med
; 24(8): 1732-1742, 2022 08.
Artigo
Inglês
| MEDLINE | ID: mdl-35507016
7.
Disease-specific ACMG/AMP guidelines improve sequence variant interpretation for hearing loss.
Genet Med
; 23(11): 2208-2212, 2021 11.
Artigo
Inglês
| MEDLINE | ID: mdl-34230634
8.
Evaluating the Clinical Validity of Gene-Disease Associations: An Evidence-Based Framework Developed by the Clinical Genome Resource.
Am J Hum Genet
; 100(6): 895-906, 2017 Jun 01.
Artigo
Inglês
| MEDLINE | ID: mdl-28552198
9.
Correction: ClinGen expert clinical validity curation of 164 hearing loss gene-disease pairs.
Genet Med
; 21(10): 2409, 2019 Oct.
Artigo
Inglês
| MEDLINE | ID: mdl-31114025
10.
ClinGen expert clinical validity curation of 164 hearing loss gene-disease pairs.
Genet Med
; 21(10): 2239-2247, 2019 10.
Artigo
Inglês
| MEDLINE | ID: mdl-30894701
11.
Consensus interpretation of the p.Met34Thr and p.Val37Ile variants in GJB2 by the ClinGen Hearing Loss Expert Panel.
Genet Med
; 21(11): 2442-2452, 2019 11.
Artigo
Inglês
| MEDLINE | ID: mdl-31160754
12.
Recommendations for interpreting the loss of function PVS1 ACMG/AMP variant criterion.
Hum Mutat
; 39(11): 1517-1524, 2018 11.
Artigo
Inglês
| MEDLINE | ID: mdl-30192042
13.
ClinVar Miner: Demonstrating utility of a Web-based tool for viewing and filtering ClinVar data.
Hum Mutat
; 39(8): 1051-1060, 2018 08.
Artigo
Inglês
| MEDLINE | ID: mdl-29790234
14.
Expert specification of the ACMG/AMP variant interpretation guidelines for genetic hearing loss.
Hum Mutat
; 39(11): 1593-1613, 2018 11.
Artigo
Inglês
| MEDLINE | ID: mdl-30311386
15.
ClinVar database of global familial hypercholesterolemia-associated DNA variants.
Hum Mutat
; 39(11): 1631-1640, 2018 11.
Artigo
Inglês
| MEDLINE | ID: mdl-30311388
16.
Protein Kinase Mitogen-activated Protein Kinase Kinase Kinase Kinase 4 (MAP4K4) Promotes Obesity-induced Hyperinsulinemia.
J Biol Chem
; 291(31): 16221-30, 2016 07 29.
Artigo
Inglês
| MEDLINE | ID: mdl-27226575
17.
Map4k4 impairs energy metabolism in endothelial cells and promotes insulin resistance in obesity.
Am J Physiol Endocrinol Metab
; 313(3): E303-E313, 2017 09 01.
Artigo
Inglês
| MEDLINE | ID: mdl-28611026
18.
The Lipid Droplet Protein Hypoxia-inducible Gene 2 Promotes Hepatic Triglyceride Deposition by Inhibiting Lipolysis.
J Biol Chem
; 290(24): 15175-84, 2015 Jun 12.
Artigo
Inglês
| MEDLINE | ID: mdl-25922078
19.
A survey assessing adoption of the ACMG-AMP guidelines for interpreting sequence variants and identification of areas for continued improvement.
Genet Med
; 21(8): 1699-1701, 2019 08.
Artigo
Inglês
| MEDLINE | ID: mdl-30670879
20.
Generating Clinical-Grade Gene-Disease Validity Classifications Through the ClinGen Data Platforms.
Annu Rev Biomed Data Sci
; 2024 Apr 25.
Artigo
Inglês
| MEDLINE | ID: mdl-38663031