Concepedia
Statistics
Publications
3
Citations
114
H-Index
Active since
2017
Affiliations
King's College London(Current)
Fujita Health University
Guy's Hospital
Nagoya University Hospital
Nagoya University
John Y.W. Lee is an author at King's College London specializing in molecular genetics, pathology, and genomics.
Top concepts
GeneticsGenomicsMedicineNeurologyPathologyNeurogeneticsRare DiseasesSystems BiologyClinical GeneticsMolecular Genetics
Publications per year
2017–2022
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 · 64 citations · Full text
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 · 35 citations · Full text
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
Rare Diseases, Mendelian Disorder, Genetic Disorder +15
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