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Lina Gonzalez

Assistant Professor of Pediatrics and Medical Genetics · UPMC Medical Education

Credentials: · · · · ·

History

UPMC Medical Education
Present
Univ of Pittsburgh Sch of Med
Present

UPMC
2012–2013
UPMC
2009–2012
University at Buffalo School of Medicine
2006–2009
University of Pittsburgh
UNIV OF ALEPPO, ALEPPO
1996–2000

Research

Biallelic Mutations in NBAS Cause Recurrent Acute Liver Failure with Onset in Infancy
The American Journal of Human Genetics · 2015 · 105 citations
Recurrent acute liver failure due to NBAS deficiency: phenotypic spectrum, disease mechanisms, and therapeutic concepts
Journal of Inherited Metabolic Disease · 2016 · 86 citations
Mutations in ACTL6B Cause Neurodevelopmental Deficits and Epilepsy and Lead to Loss of Dendrites in Human Neurons
The American Journal of Human Genetics · 2019 · 62 citations

Jerry Vockley
18 papers
Miguel Múgica
4 papers
Joseph Carcillo
3 papers
Amy Goldstein
2 papers
Cheyenne Beach
2 papers
Christina Miyake
2 papers
Hey Chong
2 papers
Jess Peterson
2 papers
JS
Jessica Sebastian
2 papers
Kathryn Torok
2 papers
Kevin Glinton
2 papers
LZ
Lilei Zhang
2 papers

Grants

Towards a Genetic Atlas of the Plain People in Western Pennsylvania: Improving Diagnosis, Access, and Health Outcomes
National Human Genome Research Institute · R03
Contact PI · $78.5K · University of Pittsburgh at Pittsburgh
2026–2028
Precision Genomic Medicine in The Plain Communities and Its Impact on The Plain and General Population
National Human Genome Research Institute · K08
Contact PI · $910.4K · University of Pittsburgh at Pittsburgh
2019–2024

Clinical trials

Review of Charts From Amish/Mennonite Variant PA Patients
Principal investigator · Completed
University of Pittsburgh
2017–2022