Detalhe da pesquisa
1.
Systematic analysis of variants escaping nonsense-mediated decay uncovers candidate Mendelian diseases.
Am J Hum Genet
; 111(1): 70-81, 2024 Jan 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-38091987
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
em Inglês
| MEDLINE | ID: mdl-37982373
3.
The Gene Curation Coalition: A global effort to harmonize gene-disease evidence resources.
Genet Med
; 24(8): 1732-1742, 2022 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-35507016
4.
Leveraging population-based exome screening to impact clinical care: The evolution of variant assessment in the Geisinger MyCode research project.
Am J Med Genet C Semin Med Genet
; 187(1): 83-94, 2021 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-33576083
5.
Molecular Diagnostic Yield of Exome Sequencing in Patients With Cerebral Palsy.
JAMA
; 325(5): 467-475, 2021 02 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-33528536
6.
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
em Inglês
| MEDLINE | ID: mdl-28552198
7.
Correction: Meta-analysis and multidisciplinary consensus statement: exome sequencing is a first-tier clinical diagnostic test for individuals with neurodevelopmental disorders.
Genet Med
; 22(10): 1731-1732, 2020 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-32728138
8.
Clinical outcomes of a genomic screening program for actionable genetic conditions.
Genet Med
; 22(11): 1874-1882, 2020 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-32601386
9.
Meta-analysis and multidisciplinary consensus statement: exome sequencing is a first-tier clinical diagnostic test for individuals with neurodevelopmental disorders.
Genet Med
; 21(11): 2413-2421, 2019 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-31182824
10.
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
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.
Copy number variant discrepancy resolution using the ClinGen dosage sensitivity map results in updated clinical interpretations in ClinVar.
Hum Mutat
; 39(11): 1650-1659, 2018 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-30095202
13.
Professional responsibilities regarding the provision, publication, and dissemination of patient phenotypes in the context of clinical genetic and genomic testing: points to consider-a statement of the American College of Medical Genetics and Genomics (ACMG).
Genet Med
; 20(2): 169-171, 2018 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-29323668
14.
Response to Spurdle et al.
Genet Med
; 25(8): 100869, 2023 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-37261438
15.
Recommendations for reporting of secondary findings in clinical exome and genome sequencing, 2016 update (ACMG SF v2.0): a policy statement of the American College of Medical Genetics and Genomics.
Genet Med
; 19(2): 249-255, 2017 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-27854360
16.
Large inverted duplications in the human genome form via a fold-back mechanism.
PLoS Genet
; 10(1): e1004139, 2014 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-24497845
17.
Clinical phenotype of the recurrent 1q21.1 copy-number variant.
Genet Med
; 18(4): 341-9, 2016 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-26066539
18.
The Human Phenotype Ontology project: linking molecular biology and disease through phenotype data.
Nucleic Acids Res
; 42(Database issue): D966-74, 2014 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-24217912
19.
Signal-peptide-peptidase-like 2a is required for CD74 intramembrane proteolysis in human B cells.
Biochem Biophys Res Commun
; 451(1): 48-53, 2014 Aug 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-25035924
20.
Diverse mutational mechanisms cause pathogenic subtelomeric rearrangements.
Hum Mol Genet
; 20(19): 3769-78, 2011 Oct 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-21729882