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Neena Champaigne

Division Chief, Medical Genetics and Genomics · Medical University of South Carolina College of Medicine

Credentials: · · · · · · ·

History

Medical Genetics and Genomics Division · Medical University of South Carolina College of Medicine
Present
Master of Science in Genetic Counseling · Medical University of South Carolina College of Medicine
Present
Medical University of South Carolina College of Medicine
Present

Pediatrics
2001–2004
Medical Genetics and Genomics
University of Texas Health Science Center at Houston
1999–2001
University of Texas Medical Branch at Galveston School of Medicine
1995–1999
University of Rochester in New York
1991–1995

Research

Exome sequencing identifies ACSF3 as a cause of combined malonic and methylmalonic aciduria
Nature Genetics · 2011 · 84 citations
A recurrent de novo missense pathogenic variant in SMARCB1 causes severe intellectual disability and choroid plexus hyperplasia with resultant hydrocephalus
Case report · Genetics in Medicine · 2019 · 29 citations
CERT1 mutations perturb human development by disrupting sphingolipid homeostasis
Journal of Clinical Investigation · 2023 · 27 citations

Daryl Scott
3 papers
RL
Raymond Louie
3 papers
RR
Richard Rogers
3 papers
Steven Skinner
3 papers
David Curtis
2 papers · 2 as a resident
DE
David Everman
2 papers
ML
Michael Lyons
2 papers
Olivia Thompson
2 papers
RS
Richard Schroer
2 papers
RS
Roger Stevenson
2 papers
Seema Lalani
2 papers
Yael Shiloh-Malawsky
2 papers