Shih‐hsin Kan

Genomic Screening of Fibroblast Growth-Factor Receptor 2 Reveals a Wide Spectrum of Mutations in Patients with Syndromic Craniosynostosis

Shih‐hsin Kan, Navaratnam Elanko, David Johnson et al. · The American Journal of Human Genetics · 2002 · 264 citations · Full text

Sclerostin, Developmental Biology, Mendelian Disorder +10

Delivery of an enzyme-IGFII fusion protein to the mouse brain is therapeutic for mucopolysaccharidosis type IIIB

Shih‐hsin Kan, Mika Aoyagi-Scharber, Steven Q. Le et al. · Proceedings of the National Academy of Sciences · 2014 · 117 citations · Full text

Missense Mutations in the Homeodomain of HOXD13 Are Associated with Brachydactyly Types D and E

David Johnson, Shih‐hsin Kan, Michael Oldridge et al. · The American Journal of Human Genetics · 2003 · 106 citations · Full text

Biology, Missense Mutations, Genetics +6

Macrophage enzyme and reduced inflammation drive brain correction of mucopolysaccharidosis IIIB by stem cell gene therapy

Rebecca Holley, Stuart Ellison, Daniel Fil et al. · Brain · 2017 · 79 citations · Full text

Cell Therapy, Mucopolysaccharidosis Iiib, Lysosomal Storage Disease +22

Early versus late treatment of spinal cord compression with long-term intrathecal enzyme replacement therapy in canine mucopolysaccharidosis type I

Patricia Dickson, Stephen R. Hanson, Michael F. McEntee et al. · Molecular Genetics and Metabolism · 2010 · 53 citations · Full text

Spinal Cord Injury, Spinal Cord Compression, Spinal Disorder +8