List of works - Shin Hayashi

22q13 Microduplication in two patients with common clinical manifestations: a recognizable syndrome?

scientific article published on 01 December 2007

Chromosome 9q33q34 microdeletion with early infantile epileptic encephalopathy, severe dystonia, abnormal eye movements, and nephroureteral malformations

scientific article published on 4 April 2014

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

scientific article published on 04 February 2016

Clinical and molecular cytogenetic characterization of two patients with non-mutational aberrations of the FMR2 gene.

scientific article published in April 2007

Clinical and radiological features of Japanese patients with a severe phenotype due to CASK mutations

scientific article published on 19 November 2012

Clinical application of array-based comparative genomic hybridization by two-stage screening for 536 patients with mental retardation and multiple congenital anomalies.

scientific article published on 28 October 2010

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

scientific article

Concomitant microduplications of MECP2 and ATRX in male patients with severe mental retardation.

scientific article published in December 2011

Construction of a high-density and high-resolution human chromosome X array for comparative genomic hybridization analysis.

scientific article published on 4 April 2007

Copy-number variations on the X chromosome in Japanese patients with mental retardation detected by array-based comparative genomic hybridization analysis.

scientific article published on 8 July 2010

Deletion at chromosome 10p11.23-p12.1 defines characteristic phenotypes with marked midface retrusion.

scientific article published on 19 January 2012

Detection of cryptic chromosome aberrations in a patient with a balanced t(1;9)(p34.2;p24) by array-based comparative genomic hybridization.

scientific article published in November 2005

Fortuitous detection of a submicroscopic deletion at 1q25 in a girl with Cornelia-de Lange syndrome carrying t(5;13)(p13.1;q12.1) by array-based comparative genomic hybridization.

scientific article published in June 2007

Genetic variants in C5 and poor response to eculizumab

scientific article published in February 2014

Heterozygous deletion at 14q22.1-q22.3 including the BMP4 gene in a patient with psychomotor retardation, congenital corneal opacity and feet polysyndactyly

article

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

scientific article published on 22 January 2015

Increased gene dosage of myelin protein zero causes Charcot-Marie-Tooth disease

scientific article published on 01 January 2012

Mild prominence of the Sylvian fissure in a Bainbridge-Ropers syndrome patient with a novel frameshift variant in ASXL3.

scientific article published on 28 December 2017

Neuroradiologic features of CASK mutations

scientific article published on July 2010

Novel deletion at Xq24 including the UBE2A gene in a patient with X-linked mental retardation.

scientific article published on 26 March 2010

Partial tandem duplication of GRIA3 in a male with mental retardation.