List of works by Hirotomo Saitsu

'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 De Novo Deletion at 16q24.3 InvolvingANKRD11in a Japanese Patient With KBG Syndrome

scientific article published on 05 March 2013

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 case of de novo splice site variant in SLC35A2 showing developmental delays, spastic paraplegia, and delayed myelination

scientific article published on 23 June 2019

A case of early onset epileptic encephalopathy with de novo mutation in SLC35A2: Clinical features and treatment for epilepsy

scientific article published on 12 October 2016

A case of hypomyelinating leukodystrophy with new homozygous mutation in POLR3A

scientific article published in January 2013

A case of new PCDH12 gene variants presented as dyskinetic cerebral palsy with epilepsy.

scientific article published on 19 March 2018

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 TOP2B variant associated with global developmental delay and autism spectrum disorder

scientific article published on 17 January 2020

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

scientific article (publication date: March 2015)

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 de novo variant in RAC3 causes severe global developmental delay and a middle interhemispheric variant of holoprosencephaly

scientific article published on 16 August 2019

A familial case of PDE10A-associated childhood-onset chorea with bilateral striatal lesions

scientific article published on 22 November 2017

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 case of aromatic l-amino acid decarboxylase deficiency responsive to MAO-B inhibition

scientific article published on 29 June 2016

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 locus for ophthalmo-acromelic syndrome mapped to 10p11.23

scientific article published on 01 March 2009

A novel PITX2 mutation causing iris hypoplasia

scientific article

A novel SACS mutation in an atypical case with autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS).

scientific article

A novel WDR45 mutation in a patient with static encephalopathy of childhood with neurodegeneration in adulthood (SENDA)

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 novel homozygous truncating variant of NECAP1 in early infantile epileptic encephalopathy: the second case report of EIEE21

scientific article published on 09 January 2019

A novel mutation in the proteolytic domain of LONP1 causes atypical CODAS syndrome.

scientific article published on 2 February 2017

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 patient with Muenke syndrome manifesting migrating neonatal seizures.

scientific article published on 24 May 2017

A patient with early myoclonic encephalopathy (EME) with a de novo KCNQ2 mutation

scientific article published on 4 July 2017

A randomised controlled trial of meloxicam, a Cox-2 inhibitor, to prevent hepatocellular carcinoma recurrence after initial curative treatment

scientific article published on 04 February 2016

A recurrent homozygous variant in siblings with Lafora disease

scientific article published on 12 July 2018

A severe pulmonary complication in a patient with COL4A1-related disorder: A case report

scientific article published on 22 December 2016

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

Aberrant differentiation of the axially condensed tail bud mesenchyme in human embryos with lumbosacral myeloschisis.

scientific article published in March 2007

Alu-related 5q35 microdeletions in Sotos syndrome

scientific article published on 25 May 2008

An atypical case of SPG56/CYP2U1-related spastic paraplegia presenting with delayed myelination

scientific article

Analysis of Fibroblast growth factor 15 cis-elements reveals two conserved enhancers which are closely related to cardiac outflow tract development.

scientific article published on 15 July 2006

Angelman syndrome caused by an identical familial 1,487-kb deletion

scientific article

Association Between Invisible Basal Ganglia and ZNF335 Mutations: A Case Report

scientific article published on 18 August 2016

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 TBCD Mutations Cause Early-Onset Neurodegenerative Encephalopathy

scientific journal article

Biallelic mutations in the 3' exonuclease TOE1 cause pontocerebellar hypoplasia and uncover a role in snRNA processing

scientific article published on 16 January 2017

Bortezomib-resistance is associated with increased levels of proteasome subunits and apoptosis-avoidance

scientific article published on 18 October 2016

Brain magnetic resonance imaging findings and auditory brainstem response in a child with spastic paraplegia 2 due to a PLP1 splice site mutation

scientific article published on 28 March 2014

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

CCNB2 and AURKA overexpression may cause atypical mitosis in Japanese cortisol-producing adrenocortical carcinoma with TP53 somatic variant

scientific article published on 14 April 2020

Callosal disconnection syndrome in symptomatic female carrier of Pelizaeus-Merzbacher disease

scientific article published on 7 August 2015

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

Characteristic MRI findings in beta-propeller protein-associated neurodegeneration (BPAN).

scientific article

Characterization of SPATA5-related encephalopathy in early childhood

scientific article published on June 2016

Characterization of the complex 7q21.3 rearrangement in a patient with bilateral split-foot malformation and hearing loss

scientific article published on 01 June 2009

Choreo-ballistic movements in a case carrying a missense mutation in syntaxin binding protein 1 gene

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 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

Coexistence of a CAV3 mutation and a DMD deletion in a family with complex muscular diseases

scientific article published on 02 February 2019

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

Compound heterozygous GFM2 mutations with Leigh syndrome complicated by arthrogryposis multiplex congenita

scientific article published on 28 May 2015

Comprehensive analysis of coding variants highlights genetic complexity in developmental and epileptic encephalopathy.

scientific article published on 7 June 2019

Comprehensive clinical and molecular studies in split-hand/foot malformation: identification of two plausible candidate genes (LRP6 and UBA2)

scientific article published on 22 July 2019

Contiguous deletion of SLC6A8 and BAP31 in a patient with severe dystonia and sensorineural deafness

scientific article

Corrigendum: Ultra-sensitive droplet digital PCR for detecting a low-prevalence somatic GNAQ mutation in Sturge-Weber syndrome

scientific article

Craniosynostosis in a patient with a de novo 15q15-q22 deletion

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

scientific article published on 20 August 2015

DNM1L-related encephalopathy in infancy with Leigh syndrome-like phenotype and suppression-burst

scientific article published on 14 June 2016

De Novo Truncating Mutation of TRIM8 Causes Early-Onset Epileptic Encephalopathy

scientific article published in July 2016

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 AFF3 variant in a patient with mesomelic dysplasia with foot malformation

scientific article published on 06 August 2019

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 IGF2 mutation on the paternal allele in a patient with Silver-Russell syndrome and ectrodactyly

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 SHANK3 mutation causes Rett syndrome-like phenotype in a female patient.

scientific article

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 ZBTB7A variant in a patient with macrocephaly, intellectual disability, and sleep apnea: implications for the phenotypic development in 19p13.3 microdeletions

scientific article published on 23 October 2019

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 missense mutations in NALCN cause developmental and intellectual impairment with hypotonia

scientific article

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 epilepsy

scientific article published on 01 June 2011

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

scientific article

De novo mutations in the gene encoding STXBP1 (MUNC18-1) cause early infantile epileptic encephalopathy

scientific article

De novo p.Arg756Cys mutation of ATP1A3 causes an atypical form of alternating hemiplegia of childhood with prolonged paralysis and choreoathetosis

scientific article published on 15 September 2016

De novo truncating variants in PHF21A cause intellectual disability and craniofacial anomalies

scientific article published on 28 November 2018

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

scientific article published on 01 November 2020

De novo variants in CUL3 are associated with global developmental delays with or without infantile spasms

scientific article published on 27 April 2020

De novo variants in RHOBTB2, an atypical Rho GTPase gene, cause epileptic encephalopathy

article

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

article published in 2014

Defects in autophagosome-lysosome fusion underlie Vici syndrome, a neurodevelopmental disorder with multisystem involvement

scientific article

Deletions of SCN2A and SCN3A genes in a patient with West syndrome and autistic spectrum disorder

article

Delineating SPTAN1 associated phenotypes: from isolated epilepsy to encephalopathy with progressive brain atrophy.

scientific article

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 copy number variations in epilepsy using exome data.

scientific article published on 22 September 2017

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

scientific article published on 12 November 2015

Development of the posterior neural tube in human embryos.

scientific article published on 14 October 2004

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

Different patterns of cerebellar abnormality and hypomyelination between POLR3A and POLR3B mutations.

scientific article

Different types of suppression-burst patterns in patients with epilepsy of infancy with migrating focal seizures (EIMFS)

scientific article published on 18 January 2019

Diffuse central hypomyelination presenting as 4H syndrome caused by compound heterozygous mutations in POLR3A encoding the catalytic subunit of polymerase III.

scientific article published on 21 July 2012

Disrupted SOX10 regulation of GJC2 transcription causes Pelizaeus-Merzbacher-like disease.

scientific article published in August 2010

Distinct but milder phenotypes with choreiform movements in siblings with compound heterozygous mutations in the transcription preinitiation mediator complex subunit 17 (MED17).

scientific article published on 21 May 2015

Disturbed chromosome segregation and multipolar spindle formation in a patient with CHAMP1 mutation

scientific article published on 12 July 2017

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

scientific article

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

Dyschromatosis Symmetrica Hereditaria and Aicardi-Goutières Syndrome 6 Are Phenotypic Variants Caused by ADAR1 Mutations.

scientific article published on 20 January 2016

Dystonia due to bilateral caudate hemorrhage associated with a COL4A1 mutation

scientific article published on 18 April 2017

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 West syndrome with severe hypomyelination and coloboma-like optic discs in a girl with SPTAN1 mutation

scientific article

Early onset epileptic encephalopathy caused by de novo SCN8A mutations

scientific article published on 2 June 2014

Efficacy of long term weekly ACTH therapy for intractable epilepsy.

scientific article published on 20 August 2014

Efficacy of surgical treatment using microwave coagulo-necrotic therapy for unresectable multiple colorectal liver metastases.

scientific article published on 25 February 2016

Electroclinical features of epileptic encephalopathy caused by SCN8A mutation.

scientific article published on 6 May 2015

Epileptic apnea in a patient with inherited glycosylphosphatidylinositol anchor deficiency and PIGT mutations

scientific article

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

scientific article published on 25 July 2017

Erratum: PARS2 and NARS2 mutations in infantile-onset neurodegenerative disorder

scientific article published on 16 February 2017

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 concept of peroxisomal diseases and efficient diagnostic system in Japan

scientific article published on 20 September 2018

Expanding the phenotype of IBA57 mutations: related leukodystrophy can remain asymptomatic

scientific article published on 27 September 2018

Expanding the phenotypic spectrum of TUBB4A-associated hypomyelinating leukoencephalopathies

scientific article published on 21 May 2014

Expression dynamics of the LIM-homeobox genes, Lhx1 and Lhx9, in the diencephalon during chick development.

scientific article published in January 2008

Expression of Fgf15 is regulated by both activator and repressor forms of Gli2 in vitro.

scientific article published on 13 February 2008

Expression of the mouse Fgf15 gene is directly initiated by Sonic hedgehog signaling in the diencephalon and midbrain

scientific journal article

FBN2,FBN1,TGFBR1, andTGFBR2 analyses in congenital contractural arachnodactyly

scientific article published on 01 April 2007

FDG-PET study of patients with Leigh syndrome

scientific article

FGFR1 disruption identified by whole genome sequencing in a male with a complex chromosomal rearrangement and hypogonadotropic hypogonadism.

scientific article published on 21 November 2017

First Japanese variant of late infantile neuronal ceroid lipofuscinosis caused by novel CLN6 mutations.

scientific article published on 7 May 2016

Folate receptors and neural tube closure

scientific article published on 28 February 2017

Foxc2CreERT2 knock-in mice mark stage-specific Foxc2-expressing cells during mouse organogenesis

scientific article published on 26 October 2016

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

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

Haploinsufficiency of STXBP1 and Ohtahara syndrome

Hedgehog signaling is involved in development of the neocortex

scientific article published on 9 July 2008

High prevalence of genetic alterations in early-onset epileptic encephalopathies associated with infantile movement disorders

scientific article published on 16 October 2015

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

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

scientific article published on 25 February 2016

Identification of a deep intronic POLR3A variant causing inclusion of a pseudoexon derived from an Alu element in Pol III-related leukodystrophy

scientific article published on 01 June 2020

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

Identification of a novel in-frame de novo mutation in SPTAN1 in intellectual disability and pontocerebellar atrophy

scientific article

Identification of de novo CSNK2A1 and CSNK2B variants in cases of global developmental delay with seizures

scientific article published on 17 January 2019

Identification of novel BCL11A variants in patients with epileptic encephalopathy: Expanding the phenotypic spectrum.

scientific article published on 6 June 2017

Identification of novel SNORD118 mutations in seven patients with leukoencephalopathy with brain calcifications and cysts.

scientific article published on 8 February 2017

Identification of novel compound heterozygous mutations in ACO2 in a patient with progressive cerebral and cerebellar atrophy

scientific article published on 20 May 2019

Impact of more detailed categorization of shrinkage or progression ratio at initial imaging response after sorafenib treatment in advanced hepatocellular carcinoma patients

scientific article

Impaired neuronal KCC2 function by biallelic SLC12A5 mutations in migrating focal seizures and severe developmental delay

scientific article published on 20 July 2016

Ineffective quinidine therapy in early onset epileptic encephalopathy withKCNT1mutation

scientific article published on 12 February 2016

Infantile epileptic encephalopathy with a hyperkinetic movement disorder and hand stereotypies associated with a novel SCN1A mutation

scientific article published in June 2014

Intracranial Hemorrhage and Tortuosity of Veins Detected on Susceptibility-weighted Imaging of a Child with a Type IV Collagen α1 Mutation and Schizencephaly

scientific article published on 15 December 2014

Intronic variant in IQGAP3 associated with hereditary neuropathy with proximal lower dominancy, urinary disturbance, and paroxysmal dry cough

scientific article published on 27 April 2020

Involvement of the axially condensed tail bud mesenchyme in normal and abnormal human posterior neural tube development

scientific article published on March 2008

Is focal cortical dysplasia sporadic? Family evidence for genetic susceptibility.

scientific article published on 6 February 2014

Is there relation between COL4A1/A2 mutations and antenatally detected fetal intraventricular hemorrhage?

scientific article published on 7 December 2013

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

Kagami-Ogata syndrome in a patient with 46,XX,t(2;14)(q11.2;q32.2)mat disrupting MEG3

scientific article published on 16 October 2020

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

scientific article

Long-Term Maintenance of Complete Response after Sorafenib Treatment for Multiple Lung Metastases from Hepatocellular Carcinoma

scientific article

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

scientific article

Low-prevalence mosaicism of chromosome 18q distal deletion identified by exome-based copy number profiling in a child with cerebral hypomyelination

scientific article published on 21 July 2019

MLL2 and KDM6A mutations in patients with Kabuki syndrome

scientific article published on 02 August 2013

Megalencephaly, polymicrogyria and ribbon-like band heterotopia: A new cortical malformation

scientific article published on 2 July 2016

Microarray comparative genomic hybridization analysis of 59 patients with schizophrenia

scientific article published on 07 August 2008

Milder progressive cerebellar atrophy caused by biallelic SEPSECS mutations

scientific article published on 18 February 2016

Mislocalization of syntaxin-1 and impaired neurite growth observed in a human iPSC model forSTXBP1-related epileptic encephalopathy

scientific article published on 25 February 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 Diagnosis of 34 Japanese Families with Leber Congenital Amaurosis Using Targeted Next Generation Sequencing.

scientific article

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 genes encoding polycomb repressive complex 2 subunits cause Weaver syndrome

scientific journal article

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

scientific article published on 4 December 2014

Nanopore sequencing reveals a structural alteration of mirror-image duplicated genes in a genome-editing mouse line

scientific article published on 14 December 2019

Neuroepidemiology of Porencephaly, Schizencephaly, and Hydranencephaly in Miyagi Prefecture, Japan

scientific article published on 28 August 2015

Neuroimaging findings in Joubert syndrome with C5orf42 gene mutations: A milder form of molar tooth sign and vermian hypoplasia.

scientific article published in March 2017

Novel COL4A1 mutation in an infant with severe dysmorphic syndrome with schizencephaly, periventricular calcifications, and cataract resembling congenital infection

scientific article

Novel EXOSC9 variants cause pontocerebellar hypoplasia type 1D with spinal motor neuronopathy and cerebellar atrophy

scientific article published on 10 October 2020

Novel FIG4 mutations in Yunis–Varon syndrome

scientific article published on 03 October 2013

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

scientific article published on 30 May 2017

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 missense mutation in CLN8 in late infantile neuronal ceroid lipofuscinosis: The first report of a CLN8 mutation in Japan

scientific article published on 3 October 2015

Novel recessive mutations in MSTO1 cause cerebellar atrophy with pigmentary retinopathy.

scientific article published on 16 January 2018

PARS2 and NARS2 mutations in infantile-onset neurodegenerative disorder

scientific article published on 12 January 2017

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

POLR1C variants dysregulate splicing and cause hypomyelinating leukodystrophy

scientific article published on 13 October 2020

Partial androgen insensitivity syndrome caused by a deep intronic mutation creating an alternative splice acceptor site of the AR gene

scientific article

Paternal germline mosaicism of a SCN2A mutation results in Ohtahara syndrome in half siblings

scientific article published on 18 April 2014

Paternal mosaicism of an STXBP1 mutation in OS

scientific article published on 10 November 2010

Paternal somatic mosaicism of a TGFBR2 mutation transmitting to an affected son with Loeys-Dietz syndrome.

scientific article

Pathogenic Variants in PIGG Cause Intellectual Disability with Seizures and Hypotonia.

scientific article published on 15 March 2016

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

scientific article published on 18 February 2013

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

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

scientific article published on 09 October 2014

Progressive diffuse brain atrophy in West syndrome with marked hypomyelination due to SPTAN1 gene mutation

scientific article

Quinidine therapy for West syndrome with KCNTI mutation: A case report

scientific article

RARS2 mutations cause early onset epileptic encephalopathy without ponto-cerebellar hypoplasia

scientific article published on 2 March 2016

RBPJ is disrupted in a case of proximal 4p deletion syndrome with epilepsy

scientific article published on 16 August 2013

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

Rare familial TSC2 gene mutation associated with atypical phenotype presentation of Tuberous Sclerosis Complex.

scientific article published on 27 January 2017

Rudimentary claws and pigmented nail-like structures on the distal tips of the digits of Wnt7a mutant mice: Wnt7A suppresses nail-like structure development in mice

scientific article published on June 2010

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

scientific article

SPTAN1 encephalopathy: distinct phenotypes and genotypes

scientific article

STXBP1 mutations in early infantile epileptic encephalopathy with suppression-burst pattern

scientific article published on 30 September 2010

Sequential developmental changes in holoprosencephalic mouse embryos exposed to ethanol during the gastrulation period

scientific article published in July 2007

Severe leukoencephalopathy with cortical involvement and peripheral neuropathy due to FOLR1 deficiency

scientific article published on 12 October 2016

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

scientific article published on 16 June 2014

Sibling cases of moyamoya disease having homozygous and heterozygous c.14576G>A variant in RNF213 showed varying clinical course and severity

scientific article published on 30 August 2012

Signaling cascade coordinating growth of dorsal and ventral tissues of the vertebrate brain, with special reference to the involvement of Sonic Hedgehog signaling

scientific article

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

Sonic hedgehog is involved in formation of the ventral optic cup by limiting Bmp4 expression to the dorsal domain

scientific article

Spatial and temporal expression of folate-binding protein 1 (Fbp1) is closely associated with anterior neural tube closure in mice

scientific article

Sporadic infantile-onset spinocerebellar ataxia caused by missense mutations of the inositol 1,4,5-triphosphate receptor type 1 gene

scientific article published on 21 March 2015

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

scientific article published on 10 May 2013

The Efficacy of Continued Sorafenib Treatment after Radiologic Confirmation of Progressive Disease in Patients with Advanced Hepatocellular Carcinoma.

scientific article published on 8 January 2016

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 genetically confirmed Japanese patient with mucolipidosis type IV.

scientific article published on 13 April 2016

The first report of Japanese patients with asparagine synthetase deficiency.

scientific article published on 12 October 2016

The molecular and phenotypic spectrum of IQSEC2-related epilepsy

scientific article published on 26 September 2016

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

scientific article published on 6 November 2014

Three Cases of KCNT1 Mutations: Malignant Migrating Partial Seizures in Infancy with Massive Systemic to Pulmonary Collateral Arteries

scientific article

Two cases of early-onset myoclonic seizures with continuous parietal delta activity caused by EEF1A2 mutations

scientific article published on 9 December 2015

Two novel homozygous RAB3GAP1 mutations cause Warburg micro syndrome

scientific article

Ultra-sensitive droplet digital PCR for detecting a low-prevalence somatic GNAQ mutation in Sturge-Weber syndrome

scientific article published on 9 March 2016

Usefulness of ketogenic diet in a girl with migrating partial seizures in infancy

scientific article published on 11 January 2016

WDR45 mutations in three male patients with West syndrome

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 identified a homozygous FNBP4 mutation in a family with a condition similar to microphthalmia with limb anomalies

Y chromosome-linked B and NK cell deficiency in mice

scientific article published on 20 May 2013

Zebrafish gene knockdowns imply roles for human YWHAG in infantile spasms and cardiomegaly

scientific article published on April 2010

[Clinical and molecular manifestations of congenital cerebral hypomyelination].

scientific article published in March 2013

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