Novel CTSA Variant Identified in a Thai Family With Late-Infantile Galactosialidosis
Annals of Human Genetics.  2025.  89  (2-3): 126-131.

Transient neonatal multiple acyl-CoA dehydrogenase deficiency due to riboflavin deficiency in an infant on total parenteral nutrition
BMJ case reports.  2025.  18  (5):

VACTERL Association and Unilateral Lambdoid Craniosynostosis
Cleft Palate Craniofacial Journal.  2025. 

Homozygosity for a Rare Plec Variant Suggests a Contributory Role in Congenital Insensitivity to Pain
International Journal of Molecular Sciences.  2024.  25  (12):

Genetic, metabolic and clinical delineation of an MRPS23-associated mitochondrial disorder
Scientific Reports.  2023.  13  (1):

Phenotypic and molecular features of Thai patients with primary carnitine deficiency
Pediatr Int.  2022. 

Multisuture craniosynostosis: a case report of unusual presentation of chromosome 14q32 deletion
Child's Nervous System.  2022. 

Infantile onset Sandhoff disease: clinical manifestation and a novel common mutation in Thai patients
BMC Pediatrics.  2021.  21  (1):

Molecular characterization of Thai patients with phenylalanine hydroxylase deficiency and in vitro functional study of two novel PAH variants
Molecular Biology Reports.  2021. 

Hypomorphic mutations of TRIP11 cause odontochondrodysplasia
JCI Insight.  2019.  4  (3):