List of works - Toshiyuki Yamamoto

A 10q21.3q22.2 microdeletion identified in a patient with severe developmental delay and multiple congenital anomalies including congenital heart defects

scientific article published on 4 April 2017

A 12p13 GRIN2B deletion is associated with developmental delay and macrocephaly

scientific article published on 15 September 2016

A 15q14 microdeletion involving MEIS2 identified in a patient with autism spectrum disorder.

scientific article

A 7q31.33q32.1 microdeletion including LRRC4 and GRM8 is associated with severe intellectual disability and characteristics of autism

scientific article published on 09 February 2017

A de novo TUBB4A mutation in a patient with hypomyelination mimicking Pelizaeus-Merzbacher disease

scientific article (publication date: March 2015)

A de novo microdeletion in a patient with inner ear abnormalities suggests that the 10q26.13 region contains the responsible gene

scientific article published on 19 May 2016

A de novo microdeletion involving PAFAH1B (LIS1) related to lissencephaly phenotype

scientific article published on 23 July 2015

A novel DARS2 mutation in a Japanese patient with leukoencephalopathy with brainstem and spinal cord involvement but no lactate elevation.

scientific article published on 9 November 2017

A novel KCNT1 mutation in a Japanese patient with epilepsy of infancy with migrating focal seizures.

scientific article published on 4 December 2014

A novel MED12 mutation associated with non-specific X-linked intellectual disability.

scientific article published on 18 June 2015

A novel MLH1 mutation in a Japanese family with Lynch syndrome associated with small bowel cancer

scientific article published on 21 June 2018

A novel PLP1 mutation F240L identified in a patient with connatal type Pelizaeus-Merzbacher disease

scientific article

A novel TUBB4A mutation G96R identified in a patient with hypomyelinating leukodystrophy onset beyond adolescence.

scientific article published on 3 August 2017

Analyses of breakpoint junctions of complex genomic rearrangements comprising multiple consecutive microdeletions by nanopore sequencing

scientific article published on 30 April 2020

Breakpoint junction analysis for complex genomic rearrangements with the caldera volcano-like pattern

scientific article published on 09 September 2020

CHCHD2 is down-regulated in neuronal cells differentiated from iPS cells derived from patients with lissencephaly

scientific article published on 15 July 2015

Challenges in detecting genomic copy number aberrations using next-generation sequencing data and the eXome Hidden Markov Model: a clinical exome-first diagnostic approach.

scientific article

Characteristics of patients with benign partial epilepsy in infancy without PRRT2 mutations

scientific article published on 21 September 2015

Characteristics of rare and private deletions identified in phenotypically normal individuals.

scientific article published on 14 September 2017

Clinical and genetic diagnosis of thirteen Japanese patients with hereditary spherocytosis

scientific article published on 12 January 2022

Clinical impacts of genomic copy number gains at Xq28

scientific article

Coffin-Siris syndrome with bilateral macular dysplasia caused by a novel exonic deletion in ARID1B

scientific article published on 02 July 2020

Comment on "delayed myelination is not a constant feature of Allan-Herndon-Dudley syndrome: report of a new case and review of the literature" by Azzolini S et al. Brain & Development 2014;36:716-720.

scientific article published on 8 April 2015

Complex chromosomal rearrangements of human chromosome 21 in a patient manifesting clinical features partially overlapped with that of Down syndrome

scientific article published on 13 June 2020

Concurrent occurrence of an inherited 16p13.11 microduplication and a de novo 19p13.3 microdeletion involving MAP2K2 in a patient with developmental delay, distinctive facial features, and lambdoid synostosis

scientific article published on 14 October 2016

De novo 1p35.2 microdeletion including PUM1 identified in a patient with sporadic West syndrome

scientific article published on 02 January 2019

Elucidation of the pathogenic mechanism and potential treatment strategy for a female patient with spastic paraplegia derived from a single-nucleotide deletion in PLP1

scientific article published on 19 April 2019

Establishment of a simple and rapid method to detect MECP2 duplications using digital polymerase chain reaction

scientific article published on 20 February 2019

Familial 9q33q34 microduplication in siblings with developmental disorders and macrocephaly

scientific article published on 9 September 2017

Genomic backgrounds of Japanese patients with undiagnosed neurodevelopmental disorders

scientific article published on 04 June 2019

Gitelman syndrome caused by a novel hemiallelic missense mutation in SLC12A3 revealed by 16q12.2q21 microdeletion

scientific article published on 27 May 2020

Independent occurrence of de novo HSPD1 and HIP1 variants in brothers with different neurological disorders - leukodystrophy and autism

scientific article published on 19 July 2018

Infantile spasms related to a 5q31.2-q31.3 microdeletion including PURA.

scientific article published on 29 March 2018

Interstitial deletion within 7q31.1q31.3 in a woman with mild intellectual disability and schizophrenia.

scientific article published on 5 July 2018

Leukoencephalopathy associated with 11q24 deletion involving the gene encoding hepatic and glial cell adhesion molecule in two patients.

scientific article published on 17 July 2015

Long-term natural history of an adult patient with distal 22q11.2 deletion from low copy repeat-D to E

scientific article published on 17 July 2018

Loss-of-function mutations and global rearrangements in GPC3 in patients with Simpson-Golabi-Behmel syndrome.

scientific article published on 13 October 2016

MED13L haploinsufficiency syndrome: A de novo frameshift and recurrent intragenic deletions due to parental mosaicism

scientific article published on 29 March 2017

MLC1 mutations in Japanese patients with megalencephalic leukoencephalopathy with subcortical cysts

scientific article published on 30 October 2014

Narrowing down the region responsible for 1q23.3q24.1 microdeletion by identifying the smallest deletion

scientific article published on 18 October 2019

Natural histories of patients with Wolf-Hirschhorn syndrome derived from variable chromosomal abnormalities

scientific article published on 15 November 2018

Novel A178P mutation in SLC16A2 in a patient with Allan-Herndon-Dudley syndrome

scientific article

Novel LAMA2 variants identified in a patient with white matter abnormalities

scientific article published on 26 May 2020

Novel PLA2G6 mutations associated with an exonic deletion due to non-allelic homologous recombination in a patient with infantile neuroaxonal dystrophy.

scientific article published on 19 November 2015

Novel compound heterozygous EPG5 mutations consisted with a missense mutation and a microduplication in the exon 1 region identified in a Japanese patient with Vici syndrome

scientific article published on 27 August 2018

Overlapping microdeletions involving 15q22.2 narrow the critical region for intellectual disability to NARG2 and RORA

scientific article published on 11 February 2014

Phenotypic features of 1q41q42 microdeletion including WDR26 and FBXO28 are clinically recognizable: The first case from Japan

scientific article published on 08 January 2019

Primrose syndrome associated with unclassified immunodeficiency and a novel ZBTB20 mutation

scientific article published on 10 December 2019

Recurrent occurrences of CDKL5 mutations in patients with epileptic encephalopathy

scientific article published on 5 November 2015

SLC16A2 mutations in two Japanese patients with Allan-Herndon-Dudley syndrome

scientific article published on 9 October 2014

The smallest de novo 20q11.2 microdeletion causing intellectual disability and dysmorphic features.

scientific article published on 30 November 2017

Three Japanese patients with 3p13 microdeletions involving FOXP1

scientific article published on 10 November 2018

White matter abnormalities in an adult patient with l-2-hydroxyglutaric aciduria

scientific article

iPSCs established from a female patient with Xq22 deletion confirm that BEX2 escapes from X-chromosome inactivation

scientific article published on 27 November 2020

List of works by Toshiyuki Yamamoto

A 10q21.3q22.2 microdeletion identified in a patient with severe developmental delay and multiple congenital anomalies including congenital heart defects

A 12p13 GRIN2B deletion is associated with developmental delay and macrocephaly

A 15q14 microdeletion involving MEIS2 identified in a patient with autism spectrum disorder.

A 7q31.33q32.1 microdeletion including LRRC4 and GRM8 is associated with severe intellectual disability and characteristics of autism

A de novo TUBB4A mutation in a patient with hypomyelination mimicking Pelizaeus-Merzbacher disease

A de novo microdeletion in a patient with inner ear abnormalities suggests that the 10q26.13 region contains the responsible gene

A de novo microdeletion involving PAFAH1B (LIS1) related to lissencephaly phenotype

A novel DARS2 mutation in a Japanese patient with leukoencephalopathy with brainstem and spinal cord involvement but no lactate elevation.

A novel KCNT1 mutation in a Japanese patient with epilepsy of infancy with migrating focal seizures.

A novel MED12 mutation associated with non-specific X-linked intellectual disability.

A novel MLH1 mutation in a Japanese family with Lynch syndrome associated with small bowel cancer

A novel PLP1 mutation F240L identified in a patient with connatal type Pelizaeus-Merzbacher disease

A novel TUBB4A mutation G96R identified in a patient with hypomyelinating leukodystrophy onset beyond adolescence.

Analyses of breakpoint junctions of complex genomic rearrangements comprising multiple consecutive microdeletions by nanopore sequencing

Breakpoint junction analysis for complex genomic rearrangements with the caldera volcano-like pattern

CHCHD2 is down-regulated in neuronal cells differentiated from iPS cells derived from patients with lissencephaly

Challenges in detecting genomic copy number aberrations using next-generation sequencing data and the eXome Hidden Markov Model: a clinical exome-first diagnostic approach.

Characteristics of patients with benign partial epilepsy in infancy without PRRT2 mutations

Characteristics of rare and private deletions identified in phenotypically normal individuals.

Clinical and genetic diagnosis of thirteen Japanese patients with hereditary spherocytosis

Clinical impacts of genomic copy number gains at Xq28

Coffin-Siris syndrome with bilateral macular dysplasia caused by a novel exonic deletion in ARID1B

Comment on "delayed myelination is not a constant feature of Allan-Herndon-Dudley syndrome: report of a new case and review of the literature" by Azzolini S et al. Brain & Development 2014;36:716-720.

Complex chromosomal rearrangements of human chromosome 21 in a patient manifesting clinical features partially overlapped with that of Down syndrome

Concurrent occurrence of an inherited 16p13.11 microduplication and a de novo 19p13.3 microdeletion involving MAP2K2 in a patient with developmental delay, distinctive facial features, and lambdoid synostosis

De novo 1p35.2 microdeletion including PUM1 identified in a patient with sporadic West syndrome

Elucidation of the pathogenic mechanism and potential treatment strategy for a female patient with spastic paraplegia derived from a single-nucleotide deletion in PLP1

Establishment of a simple and rapid method to detect MECP2 duplications using digital polymerase chain reaction

Familial 9q33q34 microduplication in siblings with developmental disorders and macrocephaly

Genomic backgrounds of Japanese patients with undiagnosed neurodevelopmental disorders

Gitelman syndrome caused by a novel hemiallelic missense mutation in SLC12A3 revealed by 16q12.2q21 microdeletion

Independent occurrence of de novo HSPD1 and HIP1 variants in brothers with different neurological disorders - leukodystrophy and autism

Infantile spasms related to a 5q31.2-q31.3 microdeletion including PURA.

Interstitial deletion within 7q31.1q31.3 in a woman with mild intellectual disability and schizophrenia.

Leukoencephalopathy associated with 11q24 deletion involving the gene encoding hepatic and glial cell adhesion molecule in two patients.

Long-term natural history of an adult patient with distal 22q11.2 deletion from low copy repeat-D to E

Loss-of-function mutations and global rearrangements in GPC3 in patients with Simpson-Golabi-Behmel syndrome.

MED13L haploinsufficiency syndrome: A de novo frameshift and recurrent intragenic deletions due to parental mosaicism

MLC1 mutations in Japanese patients with megalencephalic leukoencephalopathy with subcortical cysts

Narrowing down the region responsible for 1q23.3q24.1 microdeletion by identifying the smallest deletion

Natural histories of patients with Wolf-Hirschhorn syndrome derived from variable chromosomal abnormalities

Novel A178P mutation in SLC16A2 in a patient with Allan-Herndon-Dudley syndrome

Novel LAMA2 variants identified in a patient with white matter abnormalities

Novel PLA2G6 mutations associated with an exonic deletion due to non-allelic homologous recombination in a patient with infantile neuroaxonal dystrophy.

Novel compound heterozygous EPG5 mutations consisted with a missense mutation and a microduplication in the exon 1 region identified in a Japanese patient with Vici syndrome

Overlapping microdeletions involving 15q22.2 narrow the critical region for intellectual disability to NARG2 and RORA

Phenotypic features of 1q41q42 microdeletion including WDR26 and FBXO28 are clinically recognizable: The first case from Japan

Primrose syndrome associated with unclassified immunodeficiency and a novel ZBTB20 mutation

Recurrent occurrences of CDKL5 mutations in patients with epileptic encephalopathy

SLC16A2 mutations in two Japanese patients with Allan-Herndon-Dudley syndrome

The smallest de novo 20q11.2 microdeletion causing intellectual disability and dysmorphic features.

Three Japanese patients with 3p13 microdeletions involving FOXP1

White matter abnormalities in an adult patient with l-2-hydroxyglutaric aciduria

iPSCs established from a female patient with Xq22 deletion confirm that BEX2 escapes from X-chromosome inactivation