Anne Chun-Hui Tsai

Chinese hamster ovary cell-derived recombinant human acid α-glucosidase in infantile-onset Pompe disease

Priya S. Kishnani, Marc Nicolino, Thomas Voït et al. · The Journal of Pediatrics · 2006 · 282 citations · Full text

Autoimmune Disease, Pathogenesis, Immunology +5

Characterization of pre- and post-treatment pathology after enzyme replacement therapy for pompe disease

Beth L. Thurberg, Colleen Maloney, C A Vaccaro et al. · Laboratory Investigation · 2006 · 249 citations

Mutations in the chromatin modifier gene KANSL1 cause the 17q21.31 microdeletion syndrome

David A. Koolen, Jamie M. Kramer, Kornelia Neveling et al. · Nature Genetics · 2012 · 238 citations

Chromatin, Genome Instability, Gene Deletion Data +11

Complex Compound Inheritance of Lethal Lung Developmental Disorders Due to Disruption of the TBX-FGF Pathway

Justyna A. Karolak, Marie Vincent, Gail Deutsch et al. · The American Journal of Human Genetics · 2019 · 162 citations · Full text

Developmental Biology, Pulmonary Pathology, Medicine +7

Molecular analysis expands the spectrum of phenotypes associated with GLI3 mutations

Jennifer J. Johnston, Julie C. Sapp, Joyce Turner et al. · Human Mutation · 2010 · 127 citations · Full text