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Heather Baudet

Adjunct Clinical Assistant Professor, Genetics · University of North Carolina Hospitals

Credentials: · · ·

History

University of North Carolina Hospitals
Present

Residency
2007–2010
Doctor of Medicine
2003–2007

Research

Unique aspects of sequence variant interpretation for inborn errors of metabolism (IEM): The ClinGen IEM Working Group and the Phenylalanine Hydroxylase Gene
Human Mutation · 2018 · 47 citations
Specifications of the ACMG/AMP guidelines for ACADVL variant interpretation
Molecular Genetics and Metabolism · 2023 · 9 citations
Assessing the strength of evidence for genes implicated in fatty acid oxidation disorders using the ClinGen clinical validity framework
Molecular Genetics and Metabolism · 2019 · Last of 12 authors · Corresponding · 6 citations

Rong Mao
7 papers
WC
William Craigen
4 papers
Annette Feigenbaum
3 papers
EG
Emily Groopman
3 papers · 3 as a resident
Gregory Enns
3 papers
Robert Steiner
2 papers
BD
Brett Deml
1 paper
Brett Graham
1 paper
NB
Nancy Braverman
1 paper
Ting Wen
1 paper
Uta Lichter
1 paper