Shinichi Kameyama
Yokohama, Japan
Last Updated: 09/26/2026
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Found 9 publications
Genome sequencing provides high diagnostic yield and new etiological insights for intellectual disability and developmental delay.
Journal: NPJ genomic medicine
Published: March 11, 2025
Biallelic loss-of-function variants in ZNF142 are associated with a robust DNA methylation signature affecting a limited number of genomic loci.
Journal: European journal of human genetics : EJHG
Published: March 04, 2025
Diverse Clinical Phenotypes of Neuronal Intranuclear Inclusion Disease in South Korea.
Journal: Journal of clinical neurology (Seoul, Korea)
Published: November 29, 2024
Genome-wide DNA methylation profiling of blood samples from patients with major depressive disorder: correlation with symptom heterogeneity.
Journal: Journal of psychiatry & neuroscience : JPN
Published: September 27, 2024
A female case of L1 syndrome that may have developed due to skewed X inactivation.
Journal: Brain & development
Published: February 01, 2024
Complete SAMD12 repeat expansion sequencing in a four-generation BAFME1 family with anticipation.
Journal: Journal of human genetics
Published: May 08, 2023
Long-read sequencing revealing intragenic deletions in exome-negative spastic paraplegias.
Journal: Journal of human genetics
Published: September 22, 2022
Patients with biallelic GGC repeat expansions in NOTCH2NLC exhibiting a typical neuronal intranuclear inclusion disease phenotype.
Journal: Genomics
Published: June 24, 2022
Biallelic null variants in ZNF142 cause global developmental delay with familial epilepsy and dysmorphic features.
Journal: Journal of human genetics
Published: July 20, 2021
Showing 1-9 of 9
Last Updated: 09/26/2026