Detalhe da pesquisa
1.
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.
Artigo
em Inglês
| MEDLINE | ID: mdl-37352859
2.
Activating Mutations of RRAS2 Are a Rare Cause of Noonan Syndrome.
Am J Hum Genet
; 104(6): 1223-1232, 2019 06 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-31130282
3.
Next-generation sequencing for constitutional variants in the clinical laboratory, 2021 revision: a technical standard of the American College of Medical Genetics and Genomics (ACMG).
Genet Med
; 23(8): 1399-1415, 2021 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-33927380
4.
Effect of a Neoprene Knee Sleeve on Performance and Muscle Activity in Men and Women During High-Intensity, High-Volume Resistance Training.
J Strength Cond Res
; 35(12): 3300-3307, 2021 Dec 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-34593725
5.
Adapting ACMG/AMP sequence variant classification guidelines for single-gene copy number variants.
Genet Med
; 22(2): 336-344, 2020 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-31534211
6.
Correction: Adapting ACMG/AMP sequence variant classification guidelines for single-gene copy-number variants.
Genet Med
; 22(3): 670-671, 2020 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-31844178
7.
Reassessment of Genomic Sequence Variation to Harmonize Interpretation for Personalized Medicine.
Am J Hum Genet
; 99(5): 1140-1149, 2016 Nov 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-27843123
8.
Predictors and consequences of sudden gains in transdiagnostic cognitive-behavioural therapy for anxiety disorders.
Cogn Behav Ther
; 48(4): 265-284, 2019 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-30211672
9.
National Scouting Combine Scores as Performance Predictors in the National Football League.
J Strength Cond Res
; 33(1): 104-111, 2019 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-30358695
10.
Assessing the gene-disease association of 19 genes with the RASopathies using the ClinGen gene curation framework.
Hum Mutat
; 39(11): 1485-1493, 2018 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-30311384
11.
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
12.
Scaling resolution of variant classification differences in ClinVar between 41 clinical laboratories through an outlier approach.
Hum Mutat
; 39(11): 1641-1649, 2018 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-30311378
13.
ClinGen's RASopathy Expert Panel consensus methods for variant interpretation.
Genet Med
; 20(11): 1334-1345, 2018 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-29493581
14.
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.
Artigo
em Inglês
| MEDLINE | ID: mdl-29300372
15.
Clinical laboratories collaborate to resolve differences in variant interpretations submitted to ClinVar.
Genet Med
; 19(10): 1096-1104, 2017 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-28301460
16.
Noonan syndrome in diverse populations.
Am J Med Genet A
; 173(9): 2323-2334, 2017 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-28748642
17.
APPLICATION OF THE ACMG/AMP FRAMEWORK TO CAPTURE EVIDENCE RELEVANT TO PREDICTED AND OBSERVED IMPACT ON SPLICING: RECOMMENDATIONS FROM THE CLINGEN SVI SPLICING SUBGROUP.
medRxiv
; 2023 Feb 26.
Artigo
em Inglês
| MEDLINE | ID: mdl-36865205
18.
Novel 47.5-kb deletion in RAB27A results in severe Griscelli Syndrome Type 2.
Mol Genet Metab
; 101(1): 62-5, 2010 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-20591709
19.
Hermansky-Pudlak syndrome type 1 in patients of Indian descent.
Mol Genet Metab
; 97(3): 227-33, 2009 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-19398212
20.
Hermansky-Pudlak syndrome in two African-American brothers.
Am J Med Genet A
; 149A(5): 987-92, 2009 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-19334085