List of works - Katsuhito Yasuno

A patient with a novel homozygous missense mutation in FTO and concomitant nonsense mutation in CETP.

scientific article published on 07 January 2016

ALPK3 gene mutation in a patient with congenital cardiomyopathy and dysmorphic features.

scientific article

Biallelic Mutations in Citron Kinase Link Mitotic Cytokinesis to Human Primary Microcephaly

scientific article

Brain malformations associated with Knobloch syndrome--review of literature, expanding clinical spectrum, and identification of novel mutations

scientific article published on 04 September 2014

CLP1 founder mutation links tRNA splicing and maturation to cerebellar development and neurodegeneration

scientific article

Common variant near the endothelin receptor type A (EDNRA) gene is associated with intracranial aneurysm risk

scientific article published on 21 November 2011

Exome analysis of the evolutionary path of hepatocellular adenoma-carcinoma transition, vascular invasion and brain dissemination

scientific article

Genome-wide association study of intracranial aneurysm identifies three new risk loci

scientific article

Genome-wide association study to identify genetic variants present in Japanese patients harboring intracranial aneurysms

scientific article published on 08 July 2010

Genomic analysis of non-NF2 meningiomas reveals mutations in TRAF7, KLF4, AKT1, and SMO

scientific article

Genotype-phenotype investigation of 35 patients from 11 unrelated families with camptodactyly-arthropathy-coxa vara-pericarditis (CACP) syndrome.

scientific article

Glutathione-S-transferase-1 and interleukin-1beta gene polymorphisms in Japanese patients with Parkinson's disease.

scientific article published in July 2005

Integrated genomic analyses of de novo pathways underlying atypical meningiomas

scientific article published on 14 February 2017

Integrated genomic characterization of IDH1-mutant glioma malignant progression

scientific article

L-histidine decarboxylase and Tourette's syndrome

scientific article

Longitudinal analysis of treatment-induced genomic alterations in gliomas.

scientific article published on 2 February 2017

Loss of Protocadherin-12 Leads to Diencephalic-Mesencephalic Junction Dysplasia Syndrome.

scientific article published on 4 October 2018

METAP1 mutation is a novel candidate for autosomal recessive intellectual disability

scientific article published on 06 August 2020

Mutations in KATNB1 Cause Complex Cerebral Malformations by Disrupting Asymmetrically Dividing Neural Progenitors

scientific article published on 7 January 2015

Mutations in KATNB1 cause complex cerebral malformations by disrupting asymmetrically dividing neural progenitors

scientific article published on December 2014

NGLY1 mutation causes neuromotor impairment, intellectual disability, and neuropathy

scientific article

Novel VLDLR microdeletion identified in two Turkish siblings with pachygyria and pontocerebellar atrophy

scientific article published on 15 January 2010

Rare copy number variants in tourette syndrome disrupt genes in histaminergic pathways and overlap with autism

scientific article published on 14 December 2011

Recessive LAMC3 mutations cause malformations of occipital cortical development

scientific article published on 15 May 2011

Recurrent somatic mutations in POLR2A define a distinct subset of meningiomas

scientific article published on 22 August 2016

Reduced neuron-specific expression of the TAF1 gene is associated with X-linked dystonia-parkinsonism

scientific article published on 23 January 2007

Refinement of a locus for autosomal dominant hereditary motor and sensory neuropathy with proximal dominancy (HMSN-P) and genetic heterogeneity

scientific article published on 02 October 2007

Somatic POLE mutations cause an ultramutated giant cell high-grade glioma subtype with better prognosis

scientific article

Susceptibility loci for intracranial aneurysm in European and Japanese populations

scientific article

Synergistic association of mitochondrial uncoupling protein (UCP) genes with schizophrenia.

scientific article

The syndrome of pachygyria, mental retardation, and arachnoid cysts maps to 11p15

scientific article published on 01 November 2009

Whole-exome sequencing defines the mutational landscape of pheochromocytoma and identifies KMT2D as a recurrently mutated gene

scientific article

Whole-exome sequencing identifies recessive WDR62 mutations in severe brain malformations

scientific article

List of works by Katsuhito Yasuno

A patient with a novel homozygous missense mutation in FTO and concomitant nonsense mutation in CETP.

ALPK3 gene mutation in a patient with congenital cardiomyopathy and dysmorphic features.

Biallelic Mutations in Citron Kinase Link Mitotic Cytokinesis to Human Primary Microcephaly

Brain malformations associated with Knobloch syndrome--review of literature, expanding clinical spectrum, and identification of novel mutations

CLP1 founder mutation links tRNA splicing and maturation to cerebellar development and neurodegeneration

Common variant near the endothelin receptor type A (EDNRA) gene is associated with intracranial aneurysm risk

Exome analysis of the evolutionary path of hepatocellular adenoma-carcinoma transition, vascular invasion and brain dissemination

Genome-wide association study of intracranial aneurysm identifies three new risk loci

Genome-wide association study to identify genetic variants present in Japanese patients harboring intracranial aneurysms

Genomic analysis of non-NF2 meningiomas reveals mutations in TRAF7, KLF4, AKT1, and SMO

Genotype-phenotype investigation of 35 patients from 11 unrelated families with camptodactyly-arthropathy-coxa vara-pericarditis (CACP) syndrome.

Glutathione-S-transferase-1 and interleukin-1beta gene polymorphisms in Japanese patients with Parkinson's disease.

Integrated genomic analyses of de novo pathways underlying atypical meningiomas

Integrated genomic characterization of IDH1-mutant glioma malignant progression

L-histidine decarboxylase and Tourette's syndrome

Longitudinal analysis of treatment-induced genomic alterations in gliomas.

Loss of Protocadherin-12 Leads to Diencephalic-Mesencephalic Junction Dysplasia Syndrome.

METAP1 mutation is a novel candidate for autosomal recessive intellectual disability

Mutations in KATNB1 Cause Complex Cerebral Malformations by Disrupting Asymmetrically Dividing Neural Progenitors

Mutations in KATNB1 cause complex cerebral malformations by disrupting asymmetrically dividing neural progenitors

NGLY1 mutation causes neuromotor impairment, intellectual disability, and neuropathy

Novel VLDLR microdeletion identified in two Turkish siblings with pachygyria and pontocerebellar atrophy

Rare copy number variants in tourette syndrome disrupt genes in histaminergic pathways and overlap with autism

Recessive LAMC3 mutations cause malformations of occipital cortical development

Recurrent somatic mutations in POLR2A define a distinct subset of meningiomas

Reduced neuron-specific expression of the TAF1 gene is associated with X-linked dystonia-parkinsonism

Refinement of a locus for autosomal dominant hereditary motor and sensory neuropathy with proximal dominancy (HMSN-P) and genetic heterogeneity

Somatic POLE mutations cause an ultramutated giant cell high-grade glioma subtype with better prognosis

Susceptibility loci for intracranial aneurysm in European and Japanese populations

Synergistic association of mitochondrial uncoupling protein (UCP) genes with schizophrenia.

The syndrome of pachygyria, mental retardation, and arachnoid cysts maps to 11p15

Whole-exome sequencing defines the mutational landscape of pheochromocytoma and identifies KMT2D as a recurrently mutated gene

Whole-exome sequencing identifies recessive WDR62 mutations in severe brain malformations