John Y.W. Lee

Biallelic Mutations in KDSR Disrupt Ceramide Synthesis and Result in a Spectrum of Keratinization Disorders Associated with Thrombocytopenia

Takuya Takeichi, Antonio Torrelo, John Y.W. Lee et al. · Journal of Investigative Dermatology · 2017 · 66 citations · Full text

Life Sciences, Genetics, Molecular Genetics +13

Autoinflammatory Keratinization Disease With Hepatitis and Autism Reveals Roles for JAK1 Kinase Hyperactivity in Autoinflammation

Takuya Takeichi, John Y.W. Lee, Yusuke Okuno et al. · Frontiers in Immunology · 2022 · 37 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Novel homozygous missense mutation in <i>NT5C2</i> underlying hereditary spastic paraplegia SPG45

Rachel Straussberg, Alexandros Onoufriadis, Osnat Konen et al. · American Journal of Medical Genetics Part A · 2017 · 15 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17