Ponghatai Boonsimma

Bangkok, Thailand

Last Updated: 09/26/2026

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Found 17 publications

Long-read genome sequencing increases diagnostic yield in a short-read sequencing unsolved developmental epileptic encephalopathy (DEE) cohort.

Long-read genome sequencing increases diagnostic yield in a short-read sequencing unsolved developmental epileptic encephalopathy (DEE) cohort.

Journal: Journal of medical genetics

Published: January 19, 2026

Correction: Systemic-Pulmonary Collaterals in KCNT1-Related Disorders: Precise Nomenclature and Management.

Correction: Systemic-Pulmonary Collaterals in KCNT1-Related Disorders: Precise Nomenclature and Management.

Journal: Pediatric cardiology

Published: January 17, 2026

Systemic-Pulmonary Collaterals in KCNT1-Related Disorders: Precise Nomenclature and Management.

Systemic-Pulmonary Collaterals in KCNT1-Related Disorders: Precise Nomenclature and Management.

Journal: Pediatric cardiology

Published: September 17, 2025

Lower respiratory rate during sleep in children with angelman syndrome compared to age-matched controls.

Lower respiratory rate during sleep in children with angelman syndrome compared to age-matched controls.

Journal: Orphanet journal of rare diseases

Published: September 12, 2024

Can knowledgeable experts assess costs and outcomes as if they were ignorant? An experiment within precision medicine evaluation.

Can knowledgeable experts assess costs and outcomes as if they were ignorant? An experiment within precision medicine evaluation.

Journal: International journal of technology assessment in health care

Published: November 16, 2023

Utilisation of exome sequencing for muscular disorders in Thai paediatric patients: diagnostic yield and mutational spectrum.

Utilisation of exome sequencing for muscular disorders in Thai paediatric patients: diagnostic yield and mutational spectrum.

Journal: Scientific reports

Published: September 02, 2022

Nine patients with KCNQ2-related neonatal seizures and functional studies of two missense variants.

Nine patients with KCNQ2-related neonatal seizures and functional studies of two missense variants.

Journal: Scientific reports

Published: August 16, 2022

Exome sequencing as first-tier genetic testing in infantile-onset pharmacoresistant epilepsy: diagnostic yield and treatment impact.

Exome sequencing as first-tier genetic testing in infantile-onset pharmacoresistant epilepsy: diagnostic yield and treatment impact.

Journal: European journal of human genetics : EJHG

Published: June 03, 2022

Neuronal Ceroid Lipofuscinoses Presenting as Rett-like Phenotype: A Two-Case Report From Thailand.

Neuronal Ceroid Lipofuscinoses Presenting as Rett-like Phenotype: A Two-Case Report From Thailand.

Journal: Pediatric neurology

Published: January 25, 2022

Rapid exome sequencing as the first-tier investigation for diagnosis of acutely and severely ill children and adults in Thailand.

Rapid exome sequencing as the first-tier investigation for diagnosis of acutely and severely ill children and adults in Thailand.

Journal: Clinical genetics

Published: March 28, 2021

Expanding the genotypic spectrum of PYCR2 and a common ancestry in Thai patients with hypomyelinating leukodystrophy 10.

Expanding the genotypic spectrum of PYCR2 and a common ancestry in Thai patients with hypomyelinating leukodystrophy 10.

Journal: American journal of medical genetics. Part A

Published: February 11, 2021

Novel de novo mutation substantiates ATP6V0C as a gene causing epilepsy with intellectual disability.

Novel de novo mutation substantiates ATP6V0C as a gene causing epilepsy with intellectual disability.

Journal: Brain & development

Published: August 17, 2020

Showing 1-12 of 17

Last Updated: 09/26/2026