Publications by authors named "Shin Hayashi"

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Transcript Imbalance from TENM4 Exon Skipping: Effects on Epilepsy and Genetic Pleiotropy.
Yasuyo Suzuki, Daniela Tiaki Uehara, Yasushi Enokido, Taeko Kawai, Noriko Nomura, Shin Hayashi

Mol Neurobiol· December 2025

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Pathophysiological significance of the p.E31G variant in RAC1 responsible for a neurodevelopmental disorder with microcephaly.
Masashi Nishikawa, Shin Hayashi, Atsushi Nakayama, Yosuke Nishio, Anna Shiraki

Biochim Biophys Acta Mol Basis Dis· January 2025

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Pathogenicity evaluation of variants of uncertain significance at exon-intron junction by splicing assay in patients with Mowat-Wilson syndrome.
Yasuyo Suzuki, Noriko Nomura, Kenichiro Yamada, Yasukazu Yamada, Ayumi Fukuda, Shin Hayashi

Eur J Med Genet· December 2023

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A case of non-immune hydrops fetalis with maternal mirror syndrome diagnosed by trio-based exome sequencing: An autopsy case report and literature review.
Sho Tano, Tomomi Kotani, Masato Yoshihara, Noriyuki Nakamura, Seiko Matsuo, Shin Hayashi

Mol Genet Metab Rep· December 2022

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Recurrent pneumonia in three patients with MECP2 duplication syndrome with aspiration as the possible cause.
Ryo Sugitate, Kazuhiro Muramatsu, Tomomi Ogata, Masahide Goto, Shin Hayashi

Brain Dev· August 2022

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R3HDM1 haploinsufficiency is associated with mild intellectual disability.
Daisuke Fukushi, Mie Inaba, Kimiko Katoh, Yasuyo Suzuki, Yasushi Enokido, Shin Hayashi

Am J Med Genet A· June 2021

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Clinical efficacy of haematopoietic stem cell transplantation for adult adrenoleukodystrophy.
Takashi Matsukawa, Tomotaka Yamamoto, Akira Honda, Takashi Toya, Hiroyuki Ishiura, Toshihiro Hayashi, Shin Hayashi

Brain Commun· January 2020

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A Novel Eco-Friendly Wood Adhesive Composed by Sucrose and Ammonium Dihydrogen Phosphate.
Zhongyuan Zhao, Shin Hayashi, Wei Xu, Zhihui Wu, Soichi Tanaka

Polymers (Basel)· November 2018

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Mild prominence of the Sylvian fissure in a Bainbridge-Ropers syndrome patient with a novel frameshift variant in .
Yasutsugu Chinen, Sadao Nakamura, Akira Ganaha, Shin Hayashi, Johji Inazawa

Clin Case Rep· February 2018

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Comprehensive investigation of CASK mutations and other genetic etiologies in 41 patients with intellectual disability and microcephaly with pontine and cerebellar hypoplasia (MICPCH).
Shin Hayashi, Daniela Tiaki Uehara, Kousuke Tanimoto, Seiji Mizuno, Yasutsugu Chinen

PLoS One· September 2017

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SNP array screening of cryptic genomic imbalances in 450 Japanese subjects with intellectual disability and multiple congenital anomalies previously negative for large rearrangements.
Daniela Tiaki Uehara, Shin Hayashi, Nobuhiko Okamoto, Seiji Mizuno, Yasutsugu Chinen

J Hum Genet· April 2016

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Chromothripsis-like chromosomal rearrangements induced by ionizing radiation using proton microbeam irradiation system.
Maki Morishita, Tomoki Muramatsu, Yumiko Suto, Momoki Hirai, Teruaki Konishi, Shin Hayashi

Oncotarget· March 2016

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Identical deletion at 14q13.3 including PAX9 and NKX2-1 in siblings from mosaicism of unaffected parent.
Shin Hayashi, Mariko Yagi, Ichijiro Morisaki, Johji Inazawa

J Hum Genet· April 2015

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Chromosome 9q33q34 microdeletion with early infantile epileptic encephalopathy, severe dystonia, abnormal eye movements, and nephroureteral malformations.
Hiroshi Matsumoto, Kiyotaka Zaha, Yasuko Nakamura, Shin Hayashi, Johji Inazawa

Pediatr Neurol· July 2014

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Genetic variants in C5 and poor response to eculizumab.
Jun-ichi Nishimura, Masaki Yamamoto, Shin Hayashi, Kazuma Ohyashiki, Kiyoshi Ando

N Engl J Med· February 2014

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Clinical and radiological features of Japanese patients with a severe phenotype due to CASK mutations.
Jun-ichi Takanashi, Nobuhiko Okamoto, Yuto Yamamoto, Shin Hayashi, Hiroshi Arai

Am J Med Genet A· December 2012

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Successful treatment by donor lymphocyte infusion of adult T-cell leukemia/lymphoma relapse following allogeneic hematopoietic stem cell transplantation.
Tomohiko Kamimura, Toshihiro Miyamoto, Noriaki Kawano, Akihiko Numata, Yoshikiyo Ito, Shin Hayashi

Int J Hematol· June 2012

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The incidence of hypoplasia of the corpus callosum in patients with dup (X)(q28) involving MECP2 is associated with the location of distal breakpoints.
Shozo Honda, Shin Hayashi, Takaya Nakane, Issei Imoto, Kenji Kurosawa

Am J Med Genet A· June 2012

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Deletion at chromosome 10p11.23-p12.1 defines characteristic phenotypes with marked midface retrusion.
Nana Okamoto, Shin Hayashi, Ayako Masui, Rika Kosaki, Izumi Oguri

J Hum Genet· March 2012

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Novel intragenic duplications and mutations of CASK in patients with mental retardation and microcephaly with pontine and cerebellar hypoplasia (MICPCH).
Shin Hayashi, Nobuhiko Okamoto, Yasutsugu Chinen, Jun-ichi Takanashi, Yoshio Makita

Hum Genet· January 2012

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Concomitant microduplications of MECP2 and ATRX in male patients with severe mental retardation.
Shozo Honda, Shigeko Satomura, Shin Hayashi, Issei Imoto, Eiji Nakagawa

J Hum Genet· January 2012

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Increased gene dosage of myelin protein zero causes Charcot-Marie-Tooth disease.
Meiko Hashimoto Maeda, Jun Mitsui, Bing-Wen Soong, Yuji Takahashi, Hiroyuki Ishiura, Shin Hayashi

Ann Neurol· January 2012

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Clinical application of array-based comparative genomic hybridization by two-stage screening for 536 patients with mental retardation and multiple congenital anomalies.
Shin Hayashi, Issei Imoto, Yoshinori Aizu, Nobuhiko Okamoto, Seiji Mizuno

J Hum Genet· February 2011

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Copy-number variations on the X chromosome in Japanese patients with mental retardation detected by array-based comparative genomic hybridization analysis.
Shozo Honda, Shin Hayashi, Issei Imoto, Jun Toyama, Hitoshi Okazawa

J Hum Genet· September 2010

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Novel deletion at Xq24 including the UBE2A gene in a patient with X-linked mental retardation.
Shozo Honda, Koji O Orii, Junya Kobayashi, Shin Hayashi, Atsushi Imamura

J Hum Genet· April 2010

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