Arthaporn Khongkraparn

Identification of Gene Mutations in Primary Pediatric Cardiomyopathy by Whole Exome Sequencing

K. Rojnueangnit, D. Wattanasirichaigoon, Boonchu Sirichongkolthong, 2019, Pediatric Cardiology.

A novel TCN2 mutation with unusual clinical manifestations of hemolytic crisis and unexplained metabolic acidosis: expanding the genotype and phenotype of transcobalamin II deficiency

D. Wattanasirichaigoon, Thipwimol Tim-Aroon, N. Sirachainan, 2022, BMC Pediatrics.

A Novel Homozygous PKP2 Variant in Severe Neonatal Non-compaction and Concomitant Ventricular Septal Defect: A Case Report

D. Wattanasirichaigoon, Poomiporn Katanyuwong, Arthaporn Khongkraparn, 2022, Frontiers in Pediatrics.

Report of clinical presentations and two novel mutations in patients with Wiskott-Aldrich syndrome/X-linked Thrombocytopenia

D. Wattanasirichaigoon, W. Manuyakorn, N. Sirachainan, 2021, Platelets.

MITF variants cause nonsyndromic sensorineural hearing loss with autosomal recessive inheritance

Asif Javed, L. T. Jensen, N. Jinawath, 2020, Scientific Reports.

Clinical course, mutations and its functional characteristics of infantile-onset Pompe disease in Thailand

K. Rojnueangnit, D. Wattanasirichaigoon, J. Svasti, 2019, BMC Medical Genetics.

Gaucher disease: clinical phenotypes and refining GBA mutational spectrum in Thai patients

P. Charoenkwan, A. Tantiworawit, K. Suphapeetiporn, 2021, Orphanet Journal of Rare Diseases.

Comprehensive and long‐term outcomes of enzyme replacement therapy followed by stem cell transplantation in children with Gaucher disease type 1 and 3

S. Pakakasama, D. Wattanasirichaigoon, L. Ngiwsara, 2022, Pediatric blood & cancer.