Tomoko Uehara
Okazaki, Japan
Last Updated: 09/26/2026
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Found 81 publications
Distinct pathophysiological mechanisms of CEP152 variants in microcephaly and brain abnormalities.
Journal: EMBO molecular medicine
Published: May 11, 2025
The first Japanese case of autosomal dominant cutis laxa with a frameshift mutation in exon 30 of the elastin gene complicated by small airway disease with 8 years of follow-up.
Journal: BMC pulmonary medicine
Published: February 15, 2024
Truncating variants of the sterol recognition region of SHH cause hypertelorism phenotype rather than hypotelorism-holoprosencephaly.
Journal: American journal of medical genetics. Part A
Published: January 19, 2024
Heterozygous loss-of-function DHX9 variants are associated with neurodevelopmental disorders: Human genetic and experimental evidences.
Journal: European journal of medical genetics
Published: May 23, 2023
Rhegmatogenous Retinal Detachment in Musculocontractural Ehlers-Danlos Syndrome Caused by Biallelic Loss-of-Function Variants of Gene for Dermatan Sulfate Epimerase.
Journal: Journal of clinical medicine
Published: November 28, 2022
Direct evaluation of neuroaxonal degeneration with the causative genes of neurodegenerative diseases in Drosophila using the automated axon quantification system, MeDUsA.
Journal: Human molecular genetics
Published: August 08, 2022
Rheumatoid arthritis in a patient with compound heterozygous variants in the COL11A2 gene and progressive hearing loss: A case report.
Journal: Medicine
Published: January 06, 2022
The p.Thr395Met missense variant of NFIA found in a patient with intellectual disability is a defective variant.
Journal: American journal of medical genetics. Part A
Published: August 18, 2021
Cohesinopathy presenting with microtia, facial palsy, and hearing loss caused by STAG1 pathogenic variant.
Journal: Congenital anomalies
Published: July 21, 2021
The novel and recurrent variants in exon 31 of CREBBP in Japanese patients with Menke-Hennekam syndrome.
Journal: American journal of medical genetics. Part A
Published: June 18, 2021
Involvement of the zebrafish trrap gene in craniofacial development.
Journal: Scientific reports
Published: May 06, 2021
A patient with compound heterozygosity of SMPD4: Another example of utility of exome-based copy number analysis in autosomal recessive disorders.
Journal: American journal of medical genetics. Part A
Published: April 16, 2021
Last Updated: 09/26/2026