Shin Hayashi

Kasugai, Japan

Last Updated: 09/26/2026

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Found 17 publications

Transcript Imbalance from TENM4 Exon Skipping: Effects on Epilepsy and Genetic Pleiotropy.

Transcript Imbalance from TENM4 Exon Skipping: Effects on Epilepsy and Genetic Pleiotropy.

Journal: Molecular neurobiology

Published: July 31, 2025

A Patient With Intellectual Disability, Agenesis of Corpus Callosum, and Congenital Heart Disease Associated With Chromosome 10p11.2 Microdeletion.

A Patient With Intellectual Disability, Agenesis of Corpus Callosum, and Congenital Heart Disease Associated With Chromosome 10p11.2 Microdeletion.

Journal: American journal of medical genetics. Part A

Published: February 26, 2025

Pathophysiological significance of the p.E31G variant in RAC1 responsible for a neurodevelopmental disorder with microcephaly.

Pathophysiological significance of the p.E31G variant in RAC1 responsible for a neurodevelopmental disorder with microcephaly.

Journal: Biochimica et biophysica acta. Molecular basis of disease

Published: May 29, 2024

Pathogenicity evaluation of variants of uncertain significance at exon-intron junction by splicing assay in patients with Mowat-Wilson syndrome.

Pathogenicity evaluation of variants of uncertain significance at exon-intron junction by splicing assay in patients with Mowat-Wilson syndrome.

Journal: European journal of medical genetics

Published: July 10, 2023

A case of non-immune hydrops fetalis with maternal mirror syndrome diagnosed by trio-based exome sequencing: An autopsy case report and literature review.

A case of non-immune hydrops fetalis with maternal mirror syndrome diagnosed by trio-based exome sequencing: An autopsy case report and literature review.

Journal: Molecular genetics and metabolism reports

Published: July 29, 2022

Recurrent pneumonia in three patients with MECP2 duplication syndrome with aspiration as the possible cause.

Recurrent pneumonia in three patients with MECP2 duplication syndrome with aspiration as the possible cause.

Journal: Brain & development

Published: October 01, 2021

R3HDM1 haploinsufficiency is associated with mild intellectual disability.

R3HDM1 haploinsufficiency is associated with mild intellectual disability.

Journal: American journal of medical genetics. Part A

Published: November 04, 2020

Clinical efficacy of haematopoietic stem cell transplantation for adult adrenoleukodystrophy.

Clinical efficacy of haematopoietic stem cell transplantation for adult adrenoleukodystrophy.

Journal: Brain communications

Published: July 30, 2019

Comprehensive investigation of CASK mutations and other genetic etiologies in 41 patients with intellectual disability and microcephaly with pontine and cerebellar hypoplasia (MICPCH).

Comprehensive investigation of CASK mutations and other genetic etiologies in 41 patients with intellectual disability and microcephaly with pontine and cerebellar hypoplasia (MICPCH).

Journal: PloS one

Published: March 06, 2017

Chromothripsis-like chromosomal rearrangements induced by ionizing radiation using proton microbeam irradiation system.

Chromothripsis-like chromosomal rearrangements induced by ionizing radiation using proton microbeam irradiation system.

Journal: Oncotarget

Published: October 21, 2015

SNP array screening of cryptic genomic imbalances in 450 Japanese subjects with intellectual disability and multiple congenital anomalies previously negative for large rearrangements.

SNP array screening of cryptic genomic imbalances in 450 Japanese subjects with intellectual disability and multiple congenital anomalies previously negative for large rearrangements.

Journal: Journal of human genetics

Published: September 29, 2015

Identical deletion at 14q13.3 including PAX9 and NKX2-1 in siblings from mosaicism of unaffected parent.

Identical deletion at 14q13.3 including PAX9 and NKX2-1 in siblings from mosaicism of unaffected parent.

Journal: Journal of human genetics

Published: September 30, 2014

Showing 1-12 of 17

Last Updated: 09/26/2026