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American Journal of Medical Genetics. Part A|July 24, 2012
Primary hyperoxaluria type 1 and brachydactyly mental retardation syndrome caused by a novel mutation in AGXT and a terminal deletion of chromosome 2Rachaneekorn Tammachote, Nelawat Kingsuwannapong, Siraprapa Tongkobpetch, et al.
Epilepsia|July 22, 2008
Carbamazepine and phenytoin induced Stevens-Johnson syndrome is associated with HLA-B*1502 allele in Thai populationChaichon Locharernkul, Jakrin Loplumlert, Chusak Limotai, et al.
The Journal of Clinical Endocrinology and Metabolism|April 1, 2022
Long-read Amplicon Sequencing of the CYP21A2 in 48 Thai Patients With Steroid 21-Hydroxylase DeficiencyNithiphut Tantirukdham, Taninee Sahakitrungruang, Ratikorn Chaisiwamongkol, et al.
BMC Medical Genetics|April 2, 2011
PTPRF is disrupted in a patient with syndromic amastiaSurasawadee Ausavarat, Siraprapa Tongkobpetch, Verayuth Praphanphoj, et al.
Scientific Reports|July 1, 2025
Somatic mutations in the TG and RELA genes specific for radioiodine-refractory thyroid cancerChanan Suprakun, Pattarin Nuwongsri, Siraprapa Tongkobpetch, et al.
Human Genetics|August 9, 2013
Disorders with similar clinical phenotypes reveal underlying genetic interaction: SATB2 acts as an activator of the UPF3B genePetcharat Leoyklang, Kanya Suphapeetiporn, Chalurmpon Srichomthong, et al.
Epilepsia|March 24, 2026
Pentanucleotide repeat instability and transmission in benign adult familial myoclonic epilepsy types 1, 4, and 8Supphakorn Rakwongkhachon, Monnat Pongpanich, Chalurmpon Srichomthong, et al.
Biomedical Reports|July 1, 2025
Intronic hexanucleotide repeat expansion in TYMS in monozygotic twins with congenital progressive universal melanosisSunisa Kanchanasutthiyakorn, Sakchai Chaiyamahapurk, Siraprapa Tongkobpetch, et al.
Scientific Reports|September 14, 2022
A LILRB1 variant with a decreased ability to phosphorylate SHP-1 leads to autoimmune diseasesThivaratana Sinthuwiwat, Supranee Buranapraditkun, Wuttichart Kamolvisit, et al.
The Journal of Clinical Endocrinology and Metabolism|September 23, 2022
Novel Variants and Phenotypes in NEUROG3-Associated SyndromeKarn Wejaphikul, Khomsak Srilanchakon, Wuttichart Kamolvisit, et al.
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