Detalhe da pesquisa
1.
Genomic Data Sharing for Novel Mendelian Disease Gene Discovery: The Matchmaker Exchange.
Annu Rev Genomics Hum Genet
; 21: 305-326, 2020 08 31.
Artigo
em Inglês
| MEDLINE | ID: mdl-32339034
2.
Seven years since the launch of the Matchmaker Exchange: The evolution of genomic matchmaking.
Hum Mutat
; 43(6): 659-667, 2022 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-35537081
3.
Analyzing and Reanalyzing the Genome: Findings from the MedSeq Project.
Am J Hum Genet
; 105(1): 177-188, 2019 07 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-31256874
4.
Recontacting registry participants with genetic updates through GenomeConnect, the ClinGen patient registry.
Genet Med
; 23(9): 1738-1745, 2021 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-34007001
5.
Variant interpretation is a component of clinical practice among genetic counselors in multiple specialties.
Genet Med
; 22(4): 785-792, 2020 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-31754268
6.
Development of a consent resource for genomic data sharing in the clinical setting.
Genet Med
; 21(1): 81-88, 2019 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-29899502
7.
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
8.
ClinGen's GenomeConnect registry enables patient-centered data sharing.
Hum Mutat
; 39(11): 1668-1676, 2018 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-30311371
9.
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
10.
Short-term costs of integrating whole-genome sequencing into primary care and cardiology settings: a pilot randomized trial.
Genet Med
; 20(12): 1544-1553, 2018 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-29565423
11.
The Impact of Whole-Genome Sequencing on the Primary Care and Outcomes of Healthy Adult Patients: A Pilot Randomized Trial.
Ann Intern Med
; 167(3): 159-169, 2017 08 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-28654958
12.
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
13.
GenomeConnect: matchmaking between patients, clinical laboratories, and researchers to improve genomic knowledge.
Hum Mutat
; 36(10): 974-8, 2015 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-26178529
14.
The Matchmaker Exchange: a platform for rare disease gene discovery.
Hum Mutat
; 36(10): 915-21, 2015 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-26295439
15.
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
em Inglês
| MEDLINE | ID: mdl-30670879
16.
A systematic approach to the reporting of medically relevant findings from whole genome sequencing.
BMC Med Genet
; 15: 134, 2014 Dec 14.
Artigo
em Inglês
| MEDLINE | ID: mdl-25714468
17.
Generating Clinical-Grade Gene-Disease Validity Classifications Through the ClinGen Data Platforms.
Annu Rev Biomed Data Sci
; 2024 Apr 25.
Artigo
em Inglês
| MEDLINE | ID: mdl-38663031
18.
Points to consider for sharing variant-level information from clinical genetic testing with ClinVar.
Cold Spring Harb Mol Case Stud
; 4(1)2018 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-29437798
19.
Approaches to carrier testing and results disclosure in translational genomics research: The clinical sequencing exploratory research consortium experience.
Mol Genet Genomic Med
; 6(6): 898-909, 2018 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-30133189
20.
Determinants of white matter hyperintensity burden in patients with Fabry disease.
Neurology
; 86(20): 1880-6, 2016 May 17.
Artigo
em Inglês
| MEDLINE | ID: mdl-27164662