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Juanita Fresneda

Associate Professor of Clinical Pediatrics, Perelman School of Medicine at the University of Pennsylvania · Children's Hospital of Philadelphia

Credentials: · ·

History

Children's Hospital of Philadelphia
Present
University of Pennsylvania Health System
Present

Medical Biochemical Genetics
Baylor College of Medicine
2019–2020
Pediatrics
Woodhull Medical and Mental Health Center
2016–2019
Medical Genetics and Genomics
Baylor College of Medicine
2014–2016
Fundación Universitaria de Ciencias de la Salud (FUCS) Facultad de Medicina
2004–2008

Research

Clinical exome sequencing reveals locus heterogeneity and phenotypic variability of cohesinopathies
Genetics in Medicine · 2019 · 74 citations
Histone H3.3 beyond cancer: Germline mutations in Histone 3 Family 3A and 3B cause a previously unidentified neurodegenerative disorder in 46 patients
Science Advances · 2020 · 67 citations
Diagnosis of adenylosuccinate lyase deficiency by metabolomic profiling in plasma reveals a phenotypic spectrum
Case report · Molecular Genetics and Metabolism Reports · 2016 · 52 citations

James Lupski
5 papers
Amy Kritzer
3 papers
Davut Pehlivan
3 papers · 3 as a resident
Eileen Barr
3 papers
Lorraine Potocki
3 papers
Vandana Shashi
3 papers
Anna Hurst
2 papers
Berge Minassian
2 papers
BY
Bo Yuan
2 papers
Cesar Alves
2 papers
Daniel Calame
2 papers · 2 as a fellow
Dihong Zhou
2 papers