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Catharine Harris

Pediatrics

Credentials: · · ·

History

Pediatrics

Research

Peroxisomal bifunctional enzyme deficiency
Case report · Journal of Clinical Investigation · 1989 · 170 citations
Mutations in PPIB (cyclophilin B) delay type I procollagen chain association and result in perinatal lethal to moderate osteogenesis imperfecta phenotypes
Human Molecular Genetics · 2011 · 98 citations
MEF2C Haploinsufficiency features consistent hyperkinesis, variable epilepsy, and has a role in dorsal and ventral neuronal developmental pathways
Neurogenetics · 2013 · 94 citations

William Dobyns
2 papers
Alexander Paciorkowski
1 paper
Allison Weisman
1 paper
Amy Goldstein
1 paper
Anne Slavotinek
1 paper
Anu Venkat
1 paper
Barbara Burton
1 paper
Barbara Hallinan
1 paper
BB
Bassem Bejjani
1 paper
BA
Brad Angle
1 paper
BP
Brenda Porter
1 paper
Carlos Bacino
1 paper