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List of works by Yoshinori Tsurusaki

'Cortical cerebellar atrophy' dwindles away in the era of next-generation sequencing

scientific article published on 11 September 2014

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

scientific article

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

scientific article

A Japanese girl with an early-infantile onset vanishing white matter disease resembling Cree leukoencephalopathy

scientific article published on 27 October 2014

A case of autism spectrum disorder arising from a de novo missense mutation in POGZ.

scientific article published on 19 February 2015

A de novo 1.4-Mb deletion at 21q22.11 in a boy with developmental delay

scientific article published on 23 January 2014

A de novo CASK mutation in pontocerebellar hypoplasia type 3 with early myoclonic epilepsy and tetralogy of Fallot

scientific article published on 25 April 2013

A de novo deletion of 20q11.2-q12 in a boy presenting with abnormal hands and feet, retinal dysplasia, and intractable feeding difficulty

scientific article published on 13 January 2011

A family of oculofaciocardiodental syndrome (OFCD) with a novel BCOR mutation and genomic rearrangements involving NHS.

scientific article published on 2 February 2012

A female patient with X-linked Ohdo syndrome of the Maat-Kievit-Brunner phenotype caused by a novel variant of MED12

scientific article published on 19 July 2019

A girl with West syndrome and autistic features harboring a de novo TBL1XR1 mutation

scientific article published on 7 August 2014

A girl with early-onset epileptic encephalopathy associated with microdeletion involving CDKL5.

scientific article

A hemizygous GYG2 mutation and Leigh syndrome: a possible link?

scientific article published on 8 October 2013

A novel PITX2 mutation causing iris hypoplasia

scientific article

A novel SYNGAP1 variant in a patient with intellectual disability and distinctive dysmorphisms.

scientific article

A novel UBE2A mutation causes X-linked intellectual disability type Nascimento

scientific article published on 8 June 2017

A novel gene (FAM20B encoding glycosaminoglycan xylosylkinase) for neonatal short limb dysplasia resembling Desbuquois dysplasia

scientific article published on 11 April 2019

A novel homozygous YARS2 mutation causes severe myopathy, lactic acidosis and sideroblastic anemia 2

scientific article published on 16 January 2014

A novel homozygous mutation of DARS2 may cause a severe LBSL variant

scientific article published on 01 September 2011

A novelSCARB2mutation causing late-onset progressive myoclonus epilepsy

scientific article published on 16 January 2013

A novelWTXmutation in a female patient with osteopathia striata with cranial sclerosis and hepatoblastoma

scientific article published on 23 January 2014

A severe form of Ellis-van Creveld syndrome caused by novel mutations in EVC2

scientific article published on 26 August 2019

A unique case of de novo 5q33.3-q34 triplication with uniparental isodisomy of 5q34-qter

scientific article

AKT3 and PIK3R2 mutations in two patients with megalencephaly-related syndromes: MCAP and MPPH.

scientific article published on 10 June 2013

ANKRD11 variants cause variable clinical features associated with KBG syndrome and Coffin-Siris-like syndrome

scientific article published on 2 March 2017

Aortic aneurysm and craniosynostosis in a family with Cantu syndrome

Association of genomic deletions in the STXBP1 gene with Ohtahara syndrome

article

Atypical giant axonal neuropathy arising from a homozygous mutation by uniparental isodisomy

scientific article published on 08 September 2014

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

scientific journal article

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

scientific journal article

Biallelic mutations of EGFR in a compound heterozygous state cause ectodermal dysplasia with severe skin defects and gastrointestinal dysfunction.

scientific article published on 8 June 2018

Breakpoint determination of X;autosome balanced translocations in four patients with premature ovarian failure

scientific article published on 9 December 2010

CASK aberrations in male patients with Ohtahara syndrome and cerebellar hypoplasia

scientific article published on 18 June 2012

CNV analysis using whole exome sequencing identified biallelic CNVs of VPS13B in siblings with intellectual disability

scientific article published on 30 December 2018

Causative novel PNKP mutations and concomitant PCDH15 mutations in a patient with microcephaly with early-onset seizures and developmental delay syndrome and hearing loss

scientific article published on 26 June 2014

Cerebellar ataxia-dominant phenotype in patients with ERCC4 mutations.

scientific article

Clinical correlations of mutations affecting six components of the SWI/SNF complex: detailed description of 21 patients and a review of the literature

article

Clinical features of SMARCA2 duplication overlap with Coffin-Siris syndrome.

scientific article published on 5 June 2016

Clinical spectrum of SCN2A mutations expanding to Ohtahara syndrome

scientific article published on 9 August 2013

Clinical spectrum of early onset epileptic encephalopathies caused by KCNQ2 mutation.

scientific article published on 26 April 2013

Co-occurrence of 22q11 deletion syndrome and hdr syndrome

scientific article published on 05 August 2013

Coffin-Siris syndrome and cardiac anomaly with a novel SOX11 mutation.

scientific article published on 8 August 2017

Coffin-Siris syndrome is a SWI/SNF complex disorder

scientific article published on 23 July 2013

Compound heterozygous BRAT1 mutations cause familial Ohtahara syndrome with hypertonia and microcephaly

scientific article published on 16 October 2014

DNA methylation and gene expression dynamics during spermatogonial stem cell differentiation in the early postnatal mouse testis.

scientific article published on 20 August 2015

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

scientific article

De novo 19q13.42 duplications involving NLRP gene cluster in a patient with systemic-onset juvenile idiopathic arthritis

scientific article published on 17 February 2011

De novo 5q14.3 translocation 121.5-kb upstream of MEF2C in a patient with severe intellectual disability and early-onset epileptic encephalopathy

scientific article published on 11 October 2011

De novo DNM1 mutations in two cases of epileptic encephalopathy

scientific article published on 27 November 2015

De novo EEF1A2 mutations in patients with characteristic facial features, intellectual disability, autistic behaviors and epilepsy

scientific article published on 29 April 2014

De novo GABRA1 mutations in Ohtahara and West syndromes

scientific article

De novo KCNB1 mutations in infantile epilepsy inhibit repetitive neuronal firing

scientific article

De novo KCNH1 mutations in four patients with syndromic developmental delay, hypotonia and seizures

scientific article published on 28 January 2016

De novo KCNT1 mutations in early-onset epileptic encephalopathy

scientific article

De novo KIF1A mutations cause intellectual deficit, cerebellar atrophy, lower limb spasticity and visual disturbance

scientific article published on 10 September 2015

De novo MEIS2 mutation causes syndromic developmental delay with persistent gastro-esophageal reflux

scientific article published on 26 May 2016

De novo SOX11 mutations cause Coffin-Siris syndrome

scientific article (publication date: 2 June 2014)

De novo WDR45 mutation in a patient showing clinically Rett syndrome with childhood iron deposition in brain

scientific article published on 13 March 2014

De novo and inherited mutations in COL4A2, encoding the type IV collagen α2 chain cause porencephaly

scientific article published on 29 December 2011

De novo deletion of 1q24.3-q31.2 in a patient with severe growth retardation

scientific article published on 01 May 2010

De novo hotspot variants in CYFIP2 cause early-onset epileptic encephalopathy

scientific article published on 13 March 2018

De novo mutations in SLC35A2 encoding a UDP-galactose transporter cause early-onset epileptic encephalopathy

scientific article published on 15 October 2013

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

scientific article

De novo variants in CELF2 that disrupt the nuclear localization signal cause developmental and epileptic encephalopathy

scientific article published on 01 November 2020

Decrease in regucalcin level and enhancement of protein tyrosine phosphatase activity in rat brain microsomes with increasing age.

scientific article published in October 2003

Deep sequencing detects very-low-grade somatic mosaicism in the unaffected mother of siblings with nemaline myopathy

article published in 2014

Deletions and de novo mutations of SOX11 are associated with a neurodevelopmental disorder with features of Coffin-Siris syndrome

scientific article published on 5 November 2015

Delineation of clinical features in Wiedemann-Steiner syndrome caused by KMT2A mutations

article

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

scientific article

Detection of low-prevalence somatic TSC2 mutations in sporadic pulmonary lymphangioleiomyomatosis tissues by deep sequencing

scientific article published on 12 November 2015

Diagnostic utility of whole exome sequencing in patients showing cerebellar and/or vermis atrophy in childhood

scientific article published on 4 October 2013

Different X-linked KDM5C mutations in affected male siblings: is maternal reversion error involved?

scientific article published on 26 February 2016

Discordant phenotype caused by mutation in siblings with

scientific article published on 26 April 2019

Dual genetic diagnoses: Atypical hand-foot-genital syndrome and developmental delay due to de novo mutations in HOXA13 and NRXN1

scientific article published on 21 November 2015

Duplication of the NPHP1 gene in patients with autism spectrum disorder and normal intellectual ability: a case series

scientific article published on 6 August 2014

Early infantile epileptic encephalopathy associated with the disrupted gene encoding Slit-Robo Rho GTPase activating protein 2 (SRGAP2).

scientific article published on 21 November 2011

Early onset epileptic encephalopathy caused by de novo SCN8A mutations

scientific article published on 2 June 2014

Enhancement of albumin expression in bone tissues with healing rat fractures

scientific article published in May 2003

Erratum: Novel rare variations of the oxytocin receptor (OXTR) gene in autism spectrum disorder individuals

scientific article published on 14 January 2016

Exome sequencing identifies a novel INPPL1 mutation in opsismodysplasia.

scientific article

Exome sequencing in a family with an X-linked lethal malformation syndrome: clinical consequences of hemizygous truncating OFD1 mutations in male patients

scientific article published on May 2012

Exome sequencing of two patients in a family with atypical X-linked leukodystrophy

scientific article published on 21 June 2011

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

scientific article

Exonic deletion of CASP10 in a patient presenting with systemic juvenile idiopathic arthritis, but not with autoimmune lymphoproliferative syndrome type IIa.

scientific article

Expanding the phenotypic spectrum of TUBB4A-associated hypomyelinating leukoencephalopathies

scientific article published on 21 May 2014

Familial schwannomatosis with a germline mutation of SMARCB1 in Japan

scientific article published on 29 January 2015

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

scientific article

Growth inhibition of cultured human liver carcinoma cells by Ki-energy (life-energy): scientific evidence for Ki-effects on cancer cells

scientific article

Hemoglobin beta Kanagawa [c.443A>C; p.(Ter148Serext*21)]: A novel β-globin gene mutation causing dominantly inherited β-thalassemia

scientific article published on 03 June 2019

Homozygous c.14576G>A variant of RNF213 predicts early-onset and severe form of moyamoya disease.

scientific article

Homozygous p.V116* mutation in C12orf65 results in Leigh syndrome

scientific article

Homozygous splicing mutation in NUP133 causes Galloway-Mowat syndrome

scientific article published on 01 December 2018

Human genetic variation database, a reference database of genetic variations in the Japanese population

scientific article published on 25 February 2016

Identification of a novel homozygous SPG7 mutation in a Japanese patient with spastic ataxia: making an efficient diagnosis using exome sequencing for autosomal recessive cerebellar ataxia and spastic paraplegia

scientific article

Integrative Analyses of De Novo Mutations Provide Deeper Biological Insights into Autism Spectrum Disorder.

scientific article published in January 2018

Japanese familial case of myoclonus-dystonia syndrome with a splicing mutation inSGCE

scientific article published on 01 April 2015

KDM6A point mutations cause Kabuki syndrome

scientific article

Late-onset spastic ataxia phenotype in a patient with a homozygous DDHD2 mutation

scientific article

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

scientific article

MLL2 and KDM6A mutations in patients with Kabuki syndrome

scientific article published on 02 August 2013

Mandibulofacial dysostosis with microcephaly: A case presenting with seizures

scientific article published on 23 September 2016

Missense mutations in the DNA-binding/dimerization domain of NFIX cause Sotos-like features

scientific article published on 2 February 2012

Mitochondrial complex III deficiency caused by a homozygous UQCRC2 mutation presenting with neonatal-onset recurrent metabolic decompensation

scientific article published on 29 January 2013

Molecular genetic analysis of 30 families with Joubert syndrome

scientific article published on 19 July 2016

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

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

Mutations in COG2 encoding a subunit of the conserved oligomeric golgi complex cause a congenital disorder of glycosylation

scientific article published on 24 May 2014

Mutations in KLHL40 are a frequent cause of severe autosomal-recessive nemaline myopathy

scientific article published on 06 June 2013

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

scientific article

Mutations in the genes encoding eukaryotic translation initiation factor 2B in Japanese patients with vanishing white matter disease

scientific article published on 2 April 2015

Mutations in the glutaminyl-tRNA synthetase gene cause early-onset epileptic encephalopathy

scientific article published on 4 December 2014

Nonsyndromic intellectual disability with novel heterozygous SCN2A mutation and epilepsy.

scientific article published on 20 July 2018

Novel AMER1 frameshift mutation in a girl with osteopathia striata with cranial sclerosis

scientific article published on 9 October 2017

Novel COL4A1 mutation in a fetus with early prenatal onset of schizencephaly.

scientific article

Novel FIG4 mutations in Yunis–Varon syndrome

scientific article published on 03 October 2013

Novel USP9X variants in two patients with X-linked intellectual disability

scientific article published on 21 October 2019

Novel compound heterozygous LIAS mutations cause glycine encephalopathy

scientific article

Novel compound heterozygous PIGT mutations caused multiple congenital anomalies-hypotonia-seizures syndrome 3

scientific article published on 08 June 2014

Novel rare variations of the oxytocin receptor (OXTR) gene in autism spectrum disorder individuals

scientific article

Numerous BAF complex genes are mutated in Coffin-Siris syndrome

scientific article published on 31 July 2014

Overexpression of regucalcin modulates tumor-related gene expression in cloned rat hepatoma H4-II-E cells.

scientific article

PIGA mutations cause early-onset epileptic encephalopathies and distinctive features

scientific article published on 4 April 2014

PIGN mutations cause congenital anomalies, developmental delay, hypotonia, epilepsy, and progressive cerebellar atrophy

scientific article published on 20 November 2013

PIGO mutations in intractable epilepsy and severe developmental delay with mild elevation of alkaline phosphatase levels

scientific article published on 13 January 2014

Paternal mosaicism of an STXBP1 mutation in OS

scientific article published on 10 November 2010

Pathogenic mutations in two families with congenital cataract identified with whole-exome sequencing.

scientific article published on 18 February 2013

Pathogenic variants of DYNC2H1, KIAA0556, and PTPN11 associated with hypothalamic hamartoma

scientific article published on 13 June 2019

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

scientific article

Phenotypic spectrum of COL4A1 mutations: porencephaly to schizencephaly

scientific article

Phenotypic spectrum of GNAO1 variants: epileptic encephalopathy to involuntary movements with severe developmental delay

scientific article published on 13 May 2015

Potential role of regucalcin as a specific biochemical marker of chronic liver injury with carbon tetrachloride administration in rats

scientific article published in December 2002

Precise detection of chromosomal translocation or inversion breakpoints by whole-genome sequencing

scientific article published on 09 October 2014

RNA sequencing solved the most common but unrecognized NEB pathogenic variant in Japanese nemaline myopathy

scientific article published on 23 November 2018

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

scientific article

Rapid detection of gene mutations responsible for non-syndromic aortic aneurysm and dissection using two different methods: resequencing microarray technology and next-generation sequencing

article

Refining the clinical phenotype of Okur-Chung neurodevelopmental syndrome.

scientific article published on 29 March 2018

Role of endogenous regucalcin in the regulation of Ca(2+)-ATPase activity in rat liver nuclei

scientific journal article

Role of endogenous regucalcin in transgenic rats: suppression of kidney cortex cytosolic protein phosphatase activity and enhancement of heart muscle microsomal Ca2+-ATPase activity

scientific article

Role of endogenous regucalcin in transgenic rats: suppression of protein tyrosine phosphatase and ribonucleic acid synthesis activities in liver nucleus.

scientific article

Role of regucalcin in liver nuclear function: binding of regucalcin to nuclear protein or DNA and modulation of tumor-related gene expression.

scientific article published on August 2004

SMARCE1, a rare cause of Coffin-Siris Syndrome: Clinical description of three additional cases.

scientific article published on 5 June 2016

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

scientific article

Severe manifestations of hand-foot-genital syndrome associated with a novelHOXA13mutation

scientific article published on 16 June 2014

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

scientific article

Somatic mutations in GLI3 and OFD1 involved in sonic hedgehog signaling cause hypothalamic hamartoma

scientific article published on 24 March 2016

Suppressive effect of endogenous regucalcin on guanosine triphosphatase activity in rat liver nucleus

scientific journal article

Suppressive effect of endogenous regucalcin on nitric oxide synthase activity in cloned rat hepatoma H4-II-E cells overexpressing regucalcin

scientific article

Suppressive effect of endogenous regucalcin on the enhancement of protein synthesis and aminoacyl-tRNA synthetase activity in regenerating rat liver

scientific article published on 01 September 2000

Suppressive effect of regucalcin on protein phosphatase activity in the heart cytosol of normal and regucalcin transgenic rats

scientific article

Suppressive role of endogenous regucalcin in the enhancement of deoxyribonucleic acid synthesis activity in the nucleus of regenerating rat liver

scientific article published on 01 January 2002

Suppressive role of endogenous regucalcin in the enhancement of nitric oxide synthase activity in liver cytosol of normal and regucalcin transgenic rats

scientific article published in April 2003

TMEM67 mutations found in a case of Joubert syndrome with renal hypodysplasia.

scientific article published on 21 January 2016

Targeted capture and sequencing for detection of mutations causing early onset epileptic encephalopathy

scientific article published on 10 May 2013

The diagnostic utility of exome sequencing in Joubert syndrome and related disorders

scientific article published on 4 October 2012

The diagnostic utility of exome sequencing in Joubert syndrome and related disorders

scientific article

The first Japanese case of leukodystrophy with ovarian failure arising from novel compound heterozygous AARS2 mutations

scientific article published on 2 June 2016

The somatic GNAQ mutation c.548G>A (p.R183Q) is consistently found in Sturge-Weber syndrome

scientific article published on 6 November 2014

Translocation of regucalcin to rat liver nucleus: involvement of nuclear protein kinase and protein phosphatase regulation

scientific article published on 01 December 2000

Two novel homozygous RAB3GAP1 mutations cause Warburg micro syndrome

scientific article

Two unrelated girls with intellectual disability associated with a truncating mutation in the PPM1D penultimate exon

scientific article published on 20 February 2019

Update of the genotype and phenotype of KMT2D and KDM6A by genetic screening of 100 patients with clinically suspected Kabuki syndrome

scientific article published on 17 August 2020

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

scientific article

Whole exome analysis identifies frequent CNGA1 mutations in Japanese population with autosomal recessive retinitis pigmentosa

scientific article

Whole exome sequencing identifies KCNQ2 mutations in Ohtahara syndrome

scientific article published on 01 August 2012

Whole exome sequencing revealed biallelic IFT122 mutations in a family with CED1 and recurrent pregnancy loss

scientific article

Whole-exome sequencing and neurite outgrowth analysis in autism spectrum disorder.

scientific article published on 19 November 2015

Whole-exome sequencing identified a homozygous FNBP4 mutation in a family with a condition similar to microphthalmia with limb anomalies

Whole-exome sequencing reveals the subclonal expression of NUP214-ABL1 fusion gene in T-cell acute lymphoblastic leukemia

scientific article published on 25 September 2019

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