List of works - Noriko Miyake

Mutations affecting components of the SWI/SNF complex cause Coffin-Siris syndrome

scientific article

De novo mutations in the autophagy gene WDR45 cause static encephalopathy of childhood with neurodegeneration in adulthood

scientific article

Human CHN1 mutations hyperactivate alpha2-chimaerin and cause Duane's retraction syndrome

scientific article

KDM6A point mutations cause Kabuki syndrome

scientific article

Spectrum of MLL2 (ALR) mutations in 110 cases of Kabuki syndrome

scientific article

Loss-of-function mutations of CHST14 in a new type of Ehlers-Danlos syndrome.

scientific article

De Novo mutations in GNAO1, encoding a Gαo subunit of heterotrimeric G proteins, cause epileptic encephalopathy

scientific article

Dominant-negative mutations in alpha-II spectrin cause West syndrome with severe cerebral hypomyelination, spastic quadriplegia, and developmental delay

scientific article

Fifty microdeletions among 112 cases of Sotos syndrome: low copy repeats possibly mediate the common deletion.

scientific article

Mutations in POLR3A and POLR3B encoding RNA Polymerase III subunits cause an autosomal-recessive hypomyelinating leukoencephalopathy

scientific article

Mutations in B3GALT6, which encodes a glycosaminoglycan linker region enzyme, cause a spectrum of skeletal and connective tissue disorders

scientific article published on 9 May 2013

SMOC1 is essential for ocular and limb development in humans and mice

scientific article

Somatic Mutations in the MTOR gene cause focal cortical dysplasia type IIb.

scientific article

Biallelic Mutations in Nuclear Pore Complex Subunit NUP107 Cause Early-Childhood-Onset Steroid-Resistant Nephrotic Syndrome

scientific journal article

De novo SOX11 mutations cause Coffin-Siris syndrome

scientific article (publication date: 2 June 2014)

Phenotypic spectrum of COL4A1 mutations: porencephaly to schizencephaly

scientific article

A DYNC1H1 mutation causes a dominant spinal muscular atrophy with lower extremity predominance

scientific article

Exome sequencing reveals a homozygous SYT14 mutation in adult-onset, autosomal-recessive spinocerebellar ataxia with psychomotor retardation

scientific article

GRIN1 mutations cause encephalopathy with infantile-onset epilepsy, and hyperkinetic and stereotyped movement disorders

scientific article

De novo KCNB1 mutations in infantile epilepsy inhibit repetitive neuronal firing

scientific article

Detecting copy-number variations in whole-exome sequencing data using the eXome Hidden Markov Model: an 'exome-first' approach

scientific article

Mutations in genes encoding polycomb repressive complex 2 subunits cause Weaver syndrome

scientific journal article

Molecular characterization of del(8)(p23.1p23.1) in a case of congenital diaphragmatic hernia

scientific article published on 01 July 2005

Biallelic TBCD Mutations Cause Early-Onset Neurodegenerative Encephalopathy

scientific journal article

Molecular karyotyping in 17 patients and mutation screening in 41 patients with Kabuki syndrome.

scientific article published on 3 April 2009

MicroRNA cluster miR-17-92 regulates multiple functionally related voltage-gated potassium channels in chronic neuropathic pain

scientific article

HOXB4-induced self-renewal of hematopoietic stem cells is significantly enhanced by p21 deficiency

scientific article published on 6 October 2005

Biallelic Mutations in MYPN, Encoding Myopalladin, Are Associated with Childhood-Onset, Slowly Progressive Nemaline Myopathy

scientific journal article

Preferential paternal origin of microdeletions caused by prezygotic chromosome or chromatid rearrangements in Sotos syndrome

scientific article

Four novel NIPBL mutations in Japanese patients with Cornelia de Lange syndrome

scientific article published on 01 May 2005

Expansion of the CHN1 strabismus phenotype

scientific article

Performance comparison of bench-top next generation sequencers using microdroplet PCR-based enrichment for targeted sequencing in patients with autism spectrum disorder

scientific article

Rapid detection of a mutation causing X-linked leucoencephalopathy by exome sequencing

scientific article

Genetic screening of 104 patients with congenitally malformed hearts revealed a fresh mutation of GATA4 in those with atrial septal defects

scientific article

Microarray comparative genomic hybridization (CGH)-based prenatal diagnosis for chromosome abnormalities using cell-free fetal DNA in amniotic fluid

scientific article published on 19 April 2006

Intracellular mRNA cleavage by 3' tRNase under the direction of 2'-O-methyl RNA heptamers.

scientific article

Axial Spondylometaphyseal Dysplasia Is Caused by C21orf2 Mutations

scientific journal article

Detection of copy number variations in epilepsy using exome data.

scientific article published on 22 September 2017

WDR45 mutations in three male patients with West syndrome

scientific article

Seasonal variation in liver function tests: a time-series analysis of outpatient data

scientific article published on 29 July 2009

Three patients with Schaaf-Yang syndrome exhibiting arthrogryposis and endocrinological abnormalities.

scientific article published on 23 January 2018

Novel biallelic SZT2 mutations in 3 cases of early-onset epileptic encephalopathy.

scientific article published on 30 May 2017

Defect in dermatan sulfate in urine of patients with Ehlers-Danlos syndrome caused by a CHST14/D4ST1 deficiency

scientific article

Equivalent missense variant in the FOXP2 and FOXP1 transcription factors causes distinct neurodevelopmental disorders

scientific article published on 25 July 2017

Phenotype-genotype correlation in two patients with 12q proximal deletion

scientific article published in January 2004

Novel SUZ12 mutations in Weaver-like syndrome

scientific article published on 06 August 2018

GRIN2D variants in three cases of developmental and epileptic encephalopathy

article

A Japanese case of cerebellar ataxia, spastic paraparesis and deep sensory impairment associated with a novel homozygous TTC19 mutation

scientific article

Helicobacter cinaedi Bacteremia Mimicking a Flare of Systemic Lupus Erythematosus

scientific article

A case of atypical Kabuki syndrome arising from a novel missense variant in HNRNPK.

scientific article

List of works by Noriko Miyake

Mutations affecting components of the SWI/SNF complex cause Coffin-Siris syndrome

De novo mutations in the autophagy gene WDR45 cause static encephalopathy of childhood with neurodegeneration in adulthood

Human CHN1 mutations hyperactivate alpha2-chimaerin and cause Duane's retraction syndrome

KDM6A point mutations cause Kabuki syndrome

Spectrum of MLL2 (ALR) mutations in 110 cases of Kabuki syndrome

Loss-of-function mutations of CHST14 in a new type of Ehlers-Danlos syndrome.

De Novo mutations in GNAO1, encoding a Gαo subunit of heterotrimeric G proteins, cause epileptic encephalopathy

Dominant-negative mutations in alpha-II spectrin cause West syndrome with severe cerebral hypomyelination, spastic quadriplegia, and developmental delay

Fifty microdeletions among 112 cases of Sotos syndrome: low copy repeats possibly mediate the common deletion.

Mutations in POLR3A and POLR3B encoding RNA Polymerase III subunits cause an autosomal-recessive hypomyelinating leukoencephalopathy

Mutations in B3GALT6, which encodes a glycosaminoglycan linker region enzyme, cause a spectrum of skeletal and connective tissue disorders

SMOC1 is essential for ocular and limb development in humans and mice

Somatic Mutations in the MTOR gene cause focal cortical dysplasia type IIb.

Biallelic Mutations in Nuclear Pore Complex Subunit NUP107 Cause Early-Childhood-Onset Steroid-Resistant Nephrotic Syndrome

De novo SOX11 mutations cause Coffin-Siris syndrome

Phenotypic spectrum of COL4A1 mutations: porencephaly to schizencephaly

A DYNC1H1 mutation causes a dominant spinal muscular atrophy with lower extremity predominance

Exome sequencing reveals a homozygous SYT14 mutation in adult-onset, autosomal-recessive spinocerebellar ataxia with psychomotor retardation

GRIN1 mutations cause encephalopathy with infantile-onset epilepsy, and hyperkinetic and stereotyped movement disorders

De novo KCNB1 mutations in infantile epilepsy inhibit repetitive neuronal firing

Detecting copy-number variations in whole-exome sequencing data using the eXome Hidden Markov Model: an 'exome-first' approach

Mutations in genes encoding polycomb repressive complex 2 subunits cause Weaver syndrome

Molecular characterization of del(8)(p23.1p23.1) in a case of congenital diaphragmatic hernia

Biallelic TBCD Mutations Cause Early-Onset Neurodegenerative Encephalopathy

Molecular karyotyping in 17 patients and mutation screening in 41 patients with Kabuki syndrome.

MicroRNA cluster miR-17-92 regulates multiple functionally related voltage-gated potassium channels in chronic neuropathic pain

HOXB4-induced self-renewal of hematopoietic stem cells is significantly enhanced by p21 deficiency

Biallelic Mutations in MYPN, Encoding Myopalladin, Are Associated with Childhood-Onset, Slowly Progressive Nemaline Myopathy

Preferential paternal origin of microdeletions caused by prezygotic chromosome or chromatid rearrangements in Sotos syndrome

Four novel NIPBL mutations in Japanese patients with Cornelia de Lange syndrome

Expansion of the CHN1 strabismus phenotype

Performance comparison of bench-top next generation sequencers using microdroplet PCR-based enrichment for targeted sequencing in patients with autism spectrum disorder

Rapid detection of a mutation causing X-linked leucoencephalopathy by exome sequencing

Genetic screening of 104 patients with congenitally malformed hearts revealed a fresh mutation of GATA4 in those with atrial septal defects

Microarray comparative genomic hybridization (CGH)-based prenatal diagnosis for chromosome abnormalities using cell-free fetal DNA in amniotic fluid

Intracellular mRNA cleavage by 3' tRNase under the direction of 2'-O-methyl RNA heptamers.

Axial Spondylometaphyseal Dysplasia Is Caused by C21orf2 Mutations

Detection of copy number variations in epilepsy using exome data.

WDR45 mutations in three male patients with West syndrome

Seasonal variation in liver function tests: a time-series analysis of outpatient data

Three patients with Schaaf-Yang syndrome exhibiting arthrogryposis and endocrinological abnormalities.

Novel biallelic SZT2 mutations in 3 cases of early-onset epileptic encephalopathy.

Defect in dermatan sulfate in urine of patients with Ehlers-Danlos syndrome caused by a CHST14/D4ST1 deficiency

Equivalent missense variant in the FOXP2 and FOXP1 transcription factors causes distinct neurodevelopmental disorders

Phenotype-genotype correlation in two patients with 12q proximal deletion

Novel SUZ12 mutations in Weaver-like syndrome

GRIN2D variants in three cases of developmental and epileptic encephalopathy

A Japanese case of cerebellar ataxia, spastic paraparesis and deep sensory impairment associated with a novel homozygous TTC19 mutation

Helicobacter cinaedi Bacteremia Mimicking a Flare of Systemic Lupus Erythematosus

A case of atypical Kabuki syndrome arising from a novel missense variant in HNRNPK.