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

Chaichon Locharernkul, Jakrin Loplumlert, Chusak Limotai, +7

Epilepsia

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

Uschi Lindert, Wayne A. Cabral, Surasawadee Ausavarat, +18

Nature Communications

PDGFRa mutations in humans with isolated cleft palate

Sawitree Rattanasopha, Siraprapa Tongkobpetch, Chalurmpon Srichomthong, +3

European Journal of Human Genetics

Developmental AnomalyDevelopmental BiologyCraniofacial AnomaliesCleft Lip RepairMedicine +3

MSX1 mutations contribute to nonsyndromic cleft lip in a Thai population

Siraprapa Tongkobpetch, Pichit Siriwan, Vorasuk Shotelersuk

Journal of Human Genetics

Developmental AnomalyDevelopmental BiologyThai PopulationNonsyndromic Cleft LipGenetic Disorder +10

<i>TBX22 </i>mutations are a frequent cause of non‐syndromic cleft palate in the Thai population

Kanya Suphapeetiporn, Siraprapa Tongkobpetch, Pichit Siriwan, +1

Clinical Genetics

Disorders with similar clinical phenotypes reveal underlying genetic interaction: SATB2 acts as an activator of the UPF3B gene

Petcharat Leoyklang, Kanya Suphapeetiporn, Chalurmpon Srichomthong, +7

Human Genetics

Clinical DisordersMendelian DisorderGenetic DisorderGeneticsPathology +8

Holocarboxylase synthetase deficiency: novel clinical and molecular findings

Rachaneekorn Tammachote, Suphawee Janklat, Siraprapa Tongkobpetch, +2

Clinical Genetics

Metabolic SyndromeBiotin CycleClinical SymptomsMetabolic DisorderBiochemistry +12

FGFR1 and FGFR2 Mutations in Pfeiffer Syndrome

Chayanin Chokdeemboon, Charan Mahatumarat, Nond Rojvachiranonda, +3

Journal of Craniofacial Surgery

Pfeiffer SyndromeMendelian DisorderExons 16MedicineGenetics +11

Expanding the phenotypic spectrum of Caffey disease

Kanya Suphapeetiporn, Siraprapa Tongkobpetch, Atchara Mahayosnond, +1

Clinical Genetics

FGFR2 Mutations among Thai Children with Crouzon and Apert Syndromes

Vorasuk Shotelersuk, Charan Mahatumarat, Chupong Ittiwut, +4

Journal of Craniofacial Surgery

Developmental AnomalyMendelian DisorderSoutheast Asian SubjectsGenetic DisorderMedicine +12