Chanatjit Cheawsamoot

Bangkok, Thailand

Last Updated: 09/26/2026

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Found 8 publications

Novel CHD7 Variants Associated with an Expanded Orofacial and Dental Phenotype.

Novel CHD7 Variants Associated with an Expanded Orofacial and Dental Phenotype.

Journal: European journal of dentistry
Published: July 15, 2026

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

Generation of human induced pluripotent stem cell lines from patients with PHACE syndrome.

Generation of human induced pluripotent stem cell lines from patients with PHACE syndrome.

Journal: Stem cell research
Published: May 15, 2025

Genome sequencing identifies uniparental isodisomy of chromosome 2p and a homozygous ABCG5 variant, enabling effective treatment of pediatric hypercholesterolemia after 13 years of therapeutic resistance: A case report.

Genome sequencing identifies uniparental isodisomy of chromosome 2p and a homozygous ABCG5 variant, enabling effective treatment of pediatric hypercholesterolemia after 13 years of therapeutic resistance: A case report.

Journal: Biomedical reports
Published: May 07, 2025

Singleton rapid long-read genome sequencing as first tier genetic test for critically Ill children with suspected genetic diseases.

Singleton rapid long-read genome sequencing as first tier genetic test for critically Ill children with suspected genetic diseases.

Journal: European journal of human genetics : EJHG
Published: October 07, 2024

Corrigendum to "Generation of human induced pluripotent stem cell lines derived from four patients with a pathogenic ALPK3 variant associated with adult-onset hypertrophic cardiomyopathy (HCM)" [Stem Cell Res. 73 (2023) 103233].

Corrigendum to "Generation of human induced pluripotent stem cell lines derived from four patients with a pathogenic ALPK3 variant associated with adult-onset hypertrophic cardiomyopathy (HCM)" [Stem Cell Res. 73 (2023) 103233].

Journal: Stem cell research
Published: January 04, 2024

Generation of human induced pluripotent stem cell lines derived from four patients with a pathogenic ALPK3 variant associated with adult-onset hypertrophic cardiomyopathy (HCM).

Generation of human induced pluripotent stem cell lines derived from four patients with a pathogenic ALPK3 variant associated with adult-onset hypertrophic cardiomyopathy (HCM).

Journal: Stem cell research
Published: September 05, 2023

A Pathogenic Variant in ALPK3 Is Associated With an Autosomal Dominant Adult-onset Hypertrophic Cardiomyopathy.

A Pathogenic Variant in ALPK3 Is Associated With an Autosomal Dominant Adult-onset Hypertrophic Cardiomyopathy.

Journal: Circulation. Genomic and precision medicine
Published: November 16, 2020
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Last Updated: 09/26/2026