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1.
ClinGen guidance for use of the PP1/BS4 co-segregation and PP4 phenotype specificity criteria for sequence variant pathogenicity classification.
Am J Hum Genet
; 111(1): 24-38, 2024 Jan 04.
Article
in English
| MEDLINE | ID: mdl-38103548
2.
Advanced variant classification framework reduces the false positive rate of predicted loss-of-function variants in population sequencing data.
Am J Hum Genet
; 110(9): 1496-1508, 2023 09 07.
Article
in English
| MEDLINE | ID: mdl-37633279
3.
Using the ACMG/AMP framework to capture evidence related to predicted and observed impact on splicing: Recommendations from the ClinGen SVI Splicing Subgroup.
Am J Hum Genet
; 110(7): 1046-1067, 2023 07 06.
Article
in English
| MEDLINE | ID: mdl-37352859
4.
Calibration of computational tools for missense variant pathogenicity classification and ClinGen recommendations for PP3/BP4 criteria.
Am J Hum Genet
; 109(12): 2163-2177, 2022 12 01.
Article
in English
| MEDLINE | ID: mdl-36413997
5.
A calibrated functional patch-clamp assay to enhance clinical variant interpretation in KCNH2-related long QT syndrome.
Am J Hum Genet
; 109(7): 1199-1207, 2022 07 07.
Article
in English
| MEDLINE | ID: mdl-35688147
6.
The landscape of reported VUS in multi-gene panel and genomic testing: Time for a change.
Genet Med
; 25(12): 100947, 2023 Dec.
Article
in English
| MEDLINE | ID: mdl-37534744
7.
Harmonizing variant classification for return of results in the All of Us Research Program.
Hum Mutat
; 43(8): 1114-1121, 2022 08.
Article
in English
| MEDLINE | ID: mdl-34923710
8.
Fitting a naturally scaled point system to the ACMG/AMP variant classification guidelines.
Hum Mutat
; 41(10): 1734-1737, 2020 10.
Article
in English
| MEDLINE | ID: mdl-32720330
9.
Prune belly syndrome in surviving males can be caused by Hemizygous missense mutations in the X-linked Filamin A gene.
BMC Med Genet
; 21(1): 38, 2020 02 21.
Article
in English
| MEDLINE | ID: mdl-32085749
10.
Updated recommendation for the benign stand-alone ACMG/AMP criterion.
Hum Mutat
; 39(11): 1525-1530, 2018 11.
Article
in English
| MEDLINE | ID: mdl-30311383
11.
Recommendations for interpreting the loss of function PVS1 ACMG/AMP variant criterion.
Hum Mutat
; 39(11): 1517-1524, 2018 11.
Article
in English
| MEDLINE | ID: mdl-30192042
12.
ClinVar Miner: Demonstrating utility of a Web-based tool for viewing and filtering ClinVar data.
Hum Mutat
; 39(8): 1051-1060, 2018 08.
Article
in English
| MEDLINE | ID: mdl-29790234
13.
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.
Article
in English
| MEDLINE | ID: mdl-30311389
14.
Scaling resolution of variant classification differences in ClinVar between 41 clinical laboratories through an outlier approach.
Hum Mutat
; 39(11): 1641-1649, 2018 11.
Article
in English
| MEDLINE | ID: mdl-30311378
15.
Modeling the ACMG/AMP variant classification guidelines as a Bayesian classification framework.
Genet Med
; 20(9): 1054-1060, 2018 09.
Article
in English
| MEDLINE | ID: mdl-29300386
16.
ACMG SF v3.2 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
; 25(8): 100866, 2023 08.
Article
in English
| MEDLINE | ID: mdl-37347242
17.
Adaptation and validation of the ACMG/AMP variant classification framework for MYH7-associated inherited cardiomyopathies: recommendations by ClinGen's Inherited Cardiomyopathy Expert Panel.
Genet Med
; 20(3): 351-359, 2018 03.
Article
in English
| MEDLINE | ID: mdl-29300372
18.
Using High-Resolution Variant Frequencies Empowers Clinical Genome Interpretation and Enables Investigation of Genetic Architecture.
Am J Hum Genet
; 104(1): 187-190, 2019 01 03.
Article
in English
| MEDLINE | ID: mdl-30609406
19.
Response to McGurk et al.
Genet Med
; 24(3): 747-748, 2022 03.
Article
in English
| MEDLINE | ID: mdl-34906521
20.
Clinical laboratories collaborate to resolve differences in variant interpretations submitted to ClinVar.
Genet Med
; 19(10): 1096-1104, 2017 10.
Article
in English
| MEDLINE | ID: mdl-28301460