Kanya Suphapeetiporn

Carbamazepine and phenytoin induced Stevens‐Johnson syndrome is associated with HLA‐B*1502 allele in Thai population

Chaichon Locharernkul, Jakrin Loplumlert, Chusak Limotai et al. · Epilepsia · 2008 · 477 citations · Full text

Medicine, Pharmacology, Pharmacotherapy +14

MBTPS2 mutations cause defective regulated intramembrane proteolysis in X-linked osteogenesis imperfecta

Uschi Lindert, Wayne A. Cabral, Surasawadee Ausavarat et al. · Nature Communications · 2016 · 143 citations · Full text

Medicine, Genetics, Molecular Genetics +17

Heterozygous nonsense mutationSATB2 associated with cleft palate, osteoporosis, and cognitive defects

Petcharat Leoyklang, Kanya Suphapeetiporn, Pichit Siriwan et al. · Human Mutation · 2007 · 134 citations

Life Sciences, Genetics, Molecular Genetics +17

TTTCA repeat insertions in an intron of YEATS2 in benign adult familial myoclonic epilepsy type 4

Patra Yeetong, Monnat Pongpanich, Chalurmpon Srichomthong et al. · Brain · 2019 · 121 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Germline and Somatic<i>DICER1</i>Mutations in a Pituitary Blastoma Causing Infantile-Onset Cushing's Disease

Taninee Sahakitrungruang, Chalurmpon Srichomthong, Sopon Pornkunwilai et al. · The Journal of Clinical Endocrinology & Metabolism · 2014 · 77 citations · Full text

Medicine, Genetics, Molecular Genetics +17