Pei-Wen Chiang

Isolation of Human and Murine Homologues of theDrosophilaMinibrain Gene: Human Homologue Maps to 21q22.2 in the Down Syndrome “Critical Region”

Woo‐Joo Song, Lawrence R. Sternberg, Carol Kasten-Sportès et al. · Genomics · 1996 · 174 citations

Down Syndrome, Developmental Biology, Murine Homologues +11

Exome sequencing identifies NMNAT1 mutations as a cause of Leber congenital amaurosis

Pei-Wen Chiang, Juan Wang, Yang Chen et al. · Nature Genetics · 2012 · 140 citations

Identifies Nmnat1 Mutations, Developmental Biology, Mendelian Disorder +9

Relationship Between Foveal Cone Specialization and Pit Morphology in Albinism

Melissa A. Wilk, John T. McAllister, Robert F. Cooper et al. · Investigative Ophthalmology & Visual Science · 2014 · 134 citations · Full text

Interferon gene transfer by a hepatitis B virus vector efficiently suppresses wild-type virus infection

Ulrike Protzer, Michael Nassal, Pei-Wen Chiang et al. · Proceedings of the National Academy of Sciences · 1999 · 116 citations

Apparent underdiagnosis of Cerebrotendinous Xanthomatosis revealed by analysis of ~60,000 human exomes

Vivek Appadurai, Andrea E. DeBarber, Pei-Wen Chiang et al. · Molecular Genetics and Metabolism · 2015 · 115 citations · Full text

~60,000 Human Exomes, Surgical Pathology, Histopathology +7