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Thomas Cassini

Associate Director · Vanderbilt University Medical Center

Credentials: · · · · · ·

History

Vanderbilt University Medical Center
Present

Medical Biochemical Genetics
National Institutes of Health
2022–2023
Medical Genetics and Genomics
National Institutes of Health
2020–2022
Internal Medicine/Pediatrics
Vanderbilt University Medical Center
2019–2020
University of Wisconsin School of Medicine and Public Health
2011–2015

Research

Comparison of phenomic profiles in the All of Us Research Program against the US general population and the UK Biobank
Journal of the American Medical Informatics Association · 2024 · 39 citations
Whole genome sequencing reveals novel IGHMBP2 variant leading to unique cryptic splice-site and Charcot-Marie-Tooth phenotype with early onset symptoms
Case report · Molecular Genetics & Genomic Medicine · 2019 · First of 10 authors · Corresponding · 26 citations
Large Language Models for Rare Disease Diagnosis at the Undiagnosed Diseases Network
JAMA Network Open · 2025 · 16 citations

Rizwan Hamid
17 papers
John Phillips
11 papers
Kimberly Ezell
11 papers
Rory Tinker
9 papers · 9 as a fellow
YF
Yutaka Furuta
7 papers · 7 as a resident
David Adams
6 papers
Jonathan Bernstein
4 papers
Josh Peterson
4 papers
Joshua Denny
4 papers
Mary Koziura
4 papers
Matthew Wheeler
4 papers
Sumit Pruthi
4 papers

Grants

Vanderbilt Center of Excellence for Undiagnosed Disease (VCEUD)
National Institute of Neurological Disorders and Stroke · U01
PI · $2.7M · Vanderbilt University Medical Center
2014–2028