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Office
101 Manning Dr
APT 1107G
Chapel Hill, NC 27514Phone+1 919-966-1072Fax+1 919-966-0290
Summary
- Dr. Heather Baudet, MD is a medical geneticist in Chapel Hill, North Carolina.
Education & Training
University of North Carolina at Chapel Hill School of MedicineClass of 2007
Publications & Presentations
PubMed
- Assessment of genes involved in lysosomal diseases using the ClinGen clinical validity framework.Emily Groopman, Shruthi Mohan, Amber Waddell, Matheus Wilke, Raquel Fernandez
Molecular Genetics and Metabolism. 2024-11-01 - Developing a scoring system for gene curation prioritization in lysosomal diseases.Matheus Vernet Machado Bressan Wilke, Jennifer Goldstein, Emily Groopman, Shruthi Mohan, Amber Waddell
Molecular Genetics and Metabolism. 2024-09-05 - Specifications of the ACMG/AMP guidelines for ACADVL variant interpretation.May Flowers, Alexa Dickson, Marcus J Miller, Elaine Spector, Gregory Mark Enns
Molecular Genetics and Metabolism. 2023-11-01
