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Emma Owens
Observed names:
Emma H. Owens,
Owens, Emma,
Owens, Emma H.
Institution:
University of North Carolina at Chapel Hill
Observed institution:
University of North Carolina at Chapel Hill
OpenAlex ID:
A5060389853
Genes Associated With Hypertrophic Cardiomyopathy
2025
·
Sophie Hespe
, Amber Waddell
, et al.
·
Journal of the American College of Cardiology
·
79
PDF
Beyond gene-disease validity: capturing structured data on inheritance, allelic requirement, disease-relevant variant classes, and disease mechanism for inherited cardiac conditions
2023
·
Katherine S. Josephs
, Angharad M. Roberts
, et al.
·
Genome Medicine
·
35
PDF
Implementation of a dyadic nomenclature for monogenic diseases
2024
·
Courtney Thaxton
, Leslie G. Biesecker
, et al.
·
The American Journal of Human Genetics
·
28
Clinical testing panels for ALS: global distribution, consistency, and challenges
2023
·
Allison A. Dilliott
, Ahmad Al Nasser
, et al.
·
Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration
·
20
Expert panel curation of 31 genes in relation to limb girdle muscular dystrophy
2024
·
Shruthi Mohan
, Shannon McNulty
, et al.
·
Annals of Clinical and Translational Neurology
·
4
PDF
Beyond gene-disease validity: capturing structured data on inheritance, allelic-requirement, disease-relevant variant classes, and disease mechanism for inherited cardiac conditions
2023
·
Katherine S Josephs
, Angharad M Roberts
, et al.
·
medRxiv
·
4
PDF
Clinical validity of congenital myopathy genes determined by the ClinGen Congenital Myopathies Expert Panel
2025
·
Justyne E Ross
, May Flowers
, et al.
·
Journal of Neuromuscular Diseases
·
3
Clinical Validity of Autosomal Dominant ALPK3 Loss-of-Function Variants as a Cause of Hypertrophic Cardiomyopathy
2025
·
Sophie Hespe
, Emma S. Singer
, et al.
·
Circulation Genomic and Precision Medicine
·
3
PDF
The ClinGen Syndromic Disorders Gene Curation Expert Panel: Assessing the clinical validity of 111 gene-disease relationships
2025
·
Eleanor C. Broeren
, Vanessa N. Gitau
, et al.
·
Genetics in Medicine Open
·
1
PDF
The ClinGen Syndromic Disorders Gene Curation Expert Panel: Assessing the Clinical Validity of 111 Gene-Disease Relationships
2026
·
Hamosh, Ada
, Berg, Jonathan S.
, et al.
·
UNC Libraries
P155: The ClinGen framework for naming monogenic diseases*
2024
·
Courtney Thaxton
, Leslie Biesecker
, et al.
·
Genetics in Medicine Open
P150: ClinGen hereditary cardiovascular disease gene curation expert panel: reappraisal of the validity of hypertrophic cardiomyopathy genes*
2024
·
Amber Waddell
, Sophie Hespe
, et al.
·
Genetics in Medicine Open
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Works count:
16
Citation count:
177
H-index:
4
I10-index:
4
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