Detalhe da pesquisa
1.
Interpretable Clinical Genomics with a Likelihood Ratio Paradigm.
Am J Hum Genet
; 107(3): 403-417, 2020 09 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-32755546
2.
Variant Classification for Pompe disease; ACMG/AMP specifications from the ClinGen Lysosomal Diseases Variant Curation Expert Panel.
Mol Genet Metab
; 140(1-2): 107715, 2023.
Artigo
em Inglês
| MEDLINE | ID: mdl-37907381
3.
Utilizing ClinGen gene-disease validity and dosage sensitivity curations to inform variant classification.
Hum Mutat
; 43(8): 1031-1040, 2022 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-34694049
4.
Evidence-Based Assessment of Genes in Dilated Cardiomyopathy.
Circulation
; 144(1): 7-19, 2021 07 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-33947203
5.
Clinical validity assessment of genes frequently tested on intellectual disability/autism sequencing panels.
Genet Med
; 24(9): 1899-1908, 2022 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-35616647
6.
Common Pathophysiology in Multiple Mouse Models of Pitt-Hopkins Syndrome.
J Neurosci
; 38(4): 918-936, 2018 01 24.
Artigo
em Inglês
| MEDLINE | ID: mdl-29222403
7.
Decreased Axon Caliber Underlies Loss of Fiber Tract Integrity, Disproportional Reductions in White Matter Volume, and Microcephaly in Angelman Syndrome Model Mice.
J Neurosci
; 37(31): 7347-7361, 2017 08 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-28663201
8.
The progression of the ClinGen gene clinical validity classification over time.
Hum Mutat
; 39(11): 1494-1504, 2018 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-30311372
9.
The ClinGen Epilepsy Gene Curation Expert Panel-Bridging the divide between clinical domain knowledge and formal gene curation criteria.
Hum Mutat
; 39(11): 1476-1484, 2018 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-30311377
10.
Expert Panel Curation of 31 Genes in Relation to Limb Girdle Muscular Dystrophy.
bioRxiv
; 2024 May 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-38765987
11.
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
12.
Organization and maintenance of molecular domains in myelinated axons.
J Neurosci Res
; 91(5): 603-22, 2013 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-23404451
13.
Developing a disease-specific annotation protocol for VHL gene curation using Hypothes.is.
Database (Oxford)
; 20232023 01 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-36617168
14.
Beyond gene-disease validity: capturing structured data on inheritance, allelic-requirement, disease-relevant variant classes, and disease mechanism for inherited cardiac conditions.
medRxiv
; 2023 Apr 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-37066275
15.
Beyond gene-disease validity: capturing structured data on inheritance, allelic requirement, disease-relevant variant classes, and disease mechanism for inherited cardiac conditions.
Genome Med
; 15(1): 86, 2023 10 23.
Artigo
em Inglês
| MEDLINE | ID: mdl-37872640
16.
Schwannomin/merlin promotes Schwann cell elongation and influences myelin segment length.
Mol Cell Neurosci
; 47(1): 1-9, 2011 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-21182951
17.
Lumping versus splitting: How to approach defining a disease to enable accurate genomic curation.
Cell Genom
; 2(5)2022 May 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-35754516
18.
In vivo deletion of immunoglobulin domains 5 and 6 in neurofascin (Nfasc) reveals domain-specific requirements in myelinated axons.
J Neurosci
; 30(14): 4868-76, 2010 Apr 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-20371806
19.
International Evidence Based Reappraisal of Genes Associated With Arrhythmogenic Right Ventricular Cardiomyopathy Using the Clinical Genome Resource Framework.
Circ Genom Precis Med
; 14(3): e003273, 2021 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-33831308
20.
A myelin-related transcriptomic profile is shared by Pitt-Hopkins syndrome models and human autism spectrum disorder.
Nat Neurosci
; 23(3): 375-385, 2020 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-32015540