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GP

Gabriela Purcarin

Assistant Professor, Oklahoma University Health Sciences Center · Washington University/B-JH/SLCH Consortium

Credentials: · ·

History

Washington University/B-JH/SLCH Consortium
Present

Neurology
University of Oklahoma Health Sciences Center
2008–2012
Internal Medicine
University of Oklahoma Health Sciences Center
2007–2010
Washington University School of Medicine
2003–2008
Pediatrics
Washington University/B-JH/SLCH Consortium
2004–2007
University Emergency Hospital
2003–2004
INST DE MED SI FARMACIE, CAROL DAVILA, BUCHAREST, ROMANIA
1999–2003

Research

High Rate of Recurrent De Novo Mutations in Developmental and Epileptic Encephalopathies
Systematic review or meta-analysis · The American Journal of Human Genetics · 2017 · 382 citations
Mutations in PURA cause profound neonatal hypotonia, seizures, and encephalopathy in 5q31.3 microdeletion syndrome
The American Journal of Human Genetics · 2014 · 86 citations
Spatially clustering de novo variants in CYFIP2, encoding the cytoplasmic FMRP interacting protein 2, cause intellectual disability and seizures
European Journal of Human Genetics · 2019 · 58 citations

Klaas Weirenga
7 papers
CB
Chester Brown
2 papers
James Lupski
2 papers
Monica Wojcik
2 papers · 2 as a fellow
Seema Lalani
2 papers
AS
Aamina Shakir
1 paper
Angus Wilfong
1 paper
AE
Areeg El-Gharbawy
1 paper
Arthur Beaudet
1 paper
Berge Minassian
1 paper
Carlos Bacino
1 paper
Chin-To Fong
1 paper