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Rachel Hart

Assistant Professor of Clinical Pediatrics, Genetics · Vanderbilt University Medical Center

Credentials: · · ·

History

Vanderbilt University Medical Center
Present

Internal Medicine-Pediatrics
Brody School of Medicine at East Carolina University
2021–2025
Medical Genetics and Genomics
Indiana University School of Medicine
2019–2021
Doctor of Osteopathic Medicine
2015–2019

Research

DNA variations in oculocutaneous albinism: an updated mutation list and current outstanding issues in molecular diagnostics
Review · Human Mutation · 2013 · 101 citations
Mutations in SPECC1L, encoding sperm antigen with calponin homology and coiled-coil domains 1-like, are found in some cases of autosomal dominant Opitz G/BBB syndrome
Journal of Medical Genetics · 2015 · 39 citations
Craniosynostosis and Noonan syndrome with KRAS mutations: Expanding the phenotype with a case report and review of the literature
Case report · American Journal of Medical Genetics Part A · 2015 · 37 citations

MM
Max Muenke
5 papers
Paul Kruszka
5 papers
Amy Shah
1 paper
Daniel Swarr
1 paper · 1 as a fellow
David Adams
1 paper
Donna McDonald-McGinn
1 paper
Elaine Zackai
1 paper
Elizabeth McCormick
1 paper
Genia Dubrovsky
1 paper
Hakon Hakonarson
1 paper
Jay Heinecke
1 paper
Jere Segrest
1 paper