Thanakorn Theerapanon - Publications

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

Journal: European journal of dentistry

Published: July 15, 2026

Exercise-induced lactic acidemia associated with a SLC16A13 biallelic variant.

Journal: NPJ genomic medicine

Published: October 22, 2025

Lobodontia-Affected Teeth Exhibit Compromised Integrity and Enamel Defects: A Deep Phenotyping Study.

Journal: Oral diseases

Published: December 05, 2024

A missense variant in ASCL5 leads to lobodontia.

Journal: Nature communications

Published: October 26, 2024

Unveiling Novel DSPP Variants and Dental Phenotypes in Dentinogenesis Imperfecta.

Journal: Journal of oral pathology & medicine : official publication of the International Association of Oral Pathologists and the American Academy of Oral Pathology

Published: May 08, 2024

Cathepsin C in health and disease: from structural insights to therapeutic prospects.

Journal: Journal of translational medicine

Published: February 27, 2024

Tooth agenesis related to a novel KDF1 variant: A case report and literature review.

Journal: Oral diseases

Published: January 06, 2024

Unraveling the molecular diagnosis of metaphyseal enchondromatosis with D-2-hydroxyglutaric aciduria: A 22-year quest.

Journal: American journal of medical genetics. Part A

Published: September 07, 2023

In-depth investigation of FAM20A insufficiency effects on deciduous dental pulp cells: Altered behaviours, osteogenic differentiation, and inflammatory gene expression.

Journal: International endodontic journal

Published: August 01, 2023

Authors' reply to: Deep dental phenotyping and a novel FAM20A variant in patients with amelogenesis imperfecta type IG.

Journal: Oral diseases

Published: July 06, 2023

Functional consequences of C-terminal mutations in RUNX2.

Journal: Scientific reports

Published: May 04, 2023

Novel ITGB6 variants cause hypoplastic-hypomineralized amelogenesis imperfecta and taurodontism: characterization of tooth phenotype and review of literature.

Journal: BDJ open

Published: January 11, 2023