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GA

Georgianne Arnold

Physician · Upmc

Credentials: · · · ·

History

Upmc
2021–Present

Pediatrics
1986–1989
State University of New York Upstate Medical University
1982–1986

Research

Recurrent reciprocal 1q21.1 deletions and duplications associated with microcephaly or macrocephaly and developmental and behavioral abnormalities
Nature Genetics · 2008 · 459 citations
Clinical outcomes after long-term treatment with alglucosidase alfa in infants and children with advanced Pompe disease
Genetics in Medicine · 2009 · 230 citations
Molecular and clinical genetics of mitochondrial diseases due to POLG mutations
Human Mutation · 2008 · 224 citations

Jerry Vockley
11 papers
CH
Cary Harding
8 papers
Nicola Longo
7 papers
David Kronn
5 papers
PG
Patricia Galvin-Parton
5 papers
Paul Levy
5 papers
Barbara Burton
4 papers
Dorothy Grange
4 papers
JP
Joan Pellegrino
4 papers
Melissa Wasserstein
4 papers
RE
Richard Erbe
4 papers
Susan Berry
4 papers

Grants

Hyperphenylalaninemia Disorders Consortium of the Rare Disease Clinical Research Network
National Institute of Child Health and Human Development · U54
Project lead · $5M · Oregon Health & Science University
2019–2026
Attentional Dysfunction in Children with Phenylketonuria
National Institute of Child Health and Human Development · K23
Contact PI · $633.7K · University of Rochester
2004–2010
General Clinical Research Center
National Center for Research Resources · M01
Project lead · $12.4K · University of Rochester
2004–2006