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Author

Eleanor C Broeren

Observed names: Broeren, Eleanor C, Broeren, Eleanor C., Eleanor Broeren, Eleanor C. Broeren
Institution: Broad Institute
Observed institution: Broad Institute
ORCID: 0009-0009-9147-3105
Observed ORCID: 0009-0009-9147-3105
OpenAlex ID: A5026932152
Mondo: integrating disease terminology across communities
2025 · Nicole A Vasilevsky, Sabrina Toro, et al. · Genetics · 45
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Prenatal Ultrasonographic Features Associated With ARSL and X‐Linked Chondrodysplasia Punctata 1 (CDPX1): Literature Review and Case Series
2024 · Eleanor Broeren, Samantha Stover, et al. · Prenatal Diagnosis · 9
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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
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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
Evidence-based classification of genes implicated in craniosynostosis disorders using the ClinGen curation framework
2026 · Enyonam Y.A. Edoh, Chloe Mighton, et al. · Genetics in Medicine
Mondo: Integrating Disease Terminology Across Communities
2026 · Huether, Robert, Nicholas, Frank W, et al. · UNC Libraries
Evidence-based classification of genes implicated in skeletal disorders using the ClinGen curation framework
2025 · Ryan F Webb, Hannah McCurry, et al. · Journal of Bone and Mineral Research
P452: Specifying the ACMG/AMP variant sequence interpretation guidelines for congenital myopathies*
2023 · Marina DiStefano, Ryan Webb, et al. · Genetics in Medicine Open
Works count: 8
Citation count: 55
H-index: 2
I10-index: 1
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