Author

Heather Baudet

University of North Carolina at Chapel Hill

Listed by name: these papers carry no ORCID for this author, so different people with the same name may be mixed together.

Biology Disciplines

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Genetic & Genomic Medicine· 1

Signature Assays, Organisms & Methods

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Research Focus:gene regulatory network inference· 1 Organism:human· 1 Approach:statistical model· 1 Assay:whole-exome sequencing· 1 Assay:whole-genome sequencing· 1

Frequent Co-Authors

Amber WaddelliD· 1 shared Christina HungiD· 1 shared Deeksha Sarihyan BaliiD· 1 shared Emily GroopmaniD· 1 shared Filippo Pinto e VairoiD· 1 shared Hongbin LiuiD· 1 shared Hongjie CheniD· 1 shared Jennifer GoldsteiniD· 1 shared

Activity by Year

2024-2024 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 45 mutual co-author links

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1 shared paperGenetic & Genomic Medicine

Amber WaddellORCID

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1 paper

Recent·Most cited

Assessment of genes involved in lysosomal diseases using the ClinGen Clinical Validity framework

Emily Groopman, Shruthi Mohan, Amber Waddell, Matheus Vernet Machado Bressan Wilke, Raquel Fernandez, Meredith A. Weaver, Hongjie Chen, Hongbin Liu, Deeksha Sarihyan Bali, Heather Baudet, Lorne A. Clarke, Christina Hung, Rong Mao, Filippo Pinto e Vairo, Lemuel Racacho, , Jennifer Goldstein

The paper assesses the clinical validity of 56 genes associated with lysosomal diseases using the ClinGen framework, identifying key themes and challenges in their evaluation.

Molecular Genetics and Metabolism · Nov 1, 2024Peer-reviewedGenetic & Genomic Medicine