List of works - Tomoko Uehara

A case of autism spectrum disorder with cleft lip and palate carrying a mutation in exon 8 of AUTS2

scientific article published on 24 September 2019

Ablepharon and craniosynostosis in a patient with a localized TWIST1 basic domain substitution

scientific article published on 18 November 2018

Biallelic loss of OTUD7A causes severe muscular hypotonia, intellectual disability, and seizures

scientific article published on 31 December 2020

Biallelic mutations in NALCN: Expanding the genotypic and phenotypic spectra of IHPRF1.

scientific article published on 23 November 2017

CNOT2 as the critical gene for phenotypes of 12q15 microdeletion syndrome

scientific article published on 15 February 2019

CNOT2 haploinsufficiency causes a neurodevelopmental disorder with characteristic facial features

scientific article published on 11 September 2019

Co-occurrence of Sturge-Weber syndrome and Klippel-Trenaunay-Weber syndrome phenotype: Consideration of the historical aspect.

scientific article

Coloboma may be a shared feature in a spectrum of disorders caused by mutations in the WDR37-PACS1-PACS2 axis

scientific article published on 27 December 2020

Consecutive medical exome analysis at a tertiary center: Diagnostic and health-economic outcomes

scientific article published on 05 May 2020

Diagnostic use of computational retrotransposon detection: Successful definition of pathogenetic mechanism in a ciliopathy phenotype.

scientific article published on 4 April 2017

Diagnostic utility of integrated analysis of exome and transcriptome: Successful diagnosis of Au-Kline syndrome in a patient with submucous cleft palate, scaphocephaly, and intellectual disabilities

scientific article published on 26 June 2020

EstablishingSONin 21q22.11 as a cause a new syndromic form of intellectual disability: Possible contribution to Braddock-Carey syndrome phenotype

scientific article published on 03 June 2016

Expansion of the phenotype of Kosaki overgrowth syndrome

scientific article published on 22 June 2017

Further evidence of a mutation in CDC42 as a cause of a recognizable syndromic form of thrombocytopenia.

scientific article

Further evidence that a blepharophimosis syndrome phenotype is associated with a specific class of mutation in the ADNP gene.

scientific article

Growth pattern of Rahman syndrome

scientific article published on 31 January 2018

H+/myo-inositol transporter genes, hmit-1.1 and hmit-1.2, have roles in the osmoprotective response in Caenorhabditis elegans

scientific article published on 7 June 2011

Haploinsufficiency of NCOR1 associated with autism spectrum disorder, scoliosis, and abnormal palatogenesis

scientific article published on 05 October 2018

Hirschsprung disease as a yet undescribed phenotype in a patient with ARID1B mutation.

scientific article published on 11 August 2016

IFT172 as the 19th gene causative of oral-facial-digital syndrome

scientific article published on 06 October 2019

Learning disability and myoclonic epilepsy associated with apparently synonymous but splice-disrupting JMJD1C variant that led to 21 bp deletion of the transcript

scientific article published on 30 September 2020

Noninvasive diagnosis of TRIT1-related mitochondrial disorder by measuring i6 A37 and ms2 i6 A37 modifications in tRNAs from blood and urine samples

scientific article published on 29 May 2019

Novel BICD2 mutation in a Japanese family with autosomal dominant lower extremity-predominant spinal muscular atrophy-2.

scientific article published on 19 December 2017

Parallel detection of single nucleotide variants and copy number variants with exome analysis: Validation in a cohort of 700 undiagnosed patients

scientific article published on 11 August 2020

Preaxial polydactyly in an individual with Wiedemann-Steiner syndrome caused by a novel nonsense mutation in KMT2A

scientific article published on 16 August 2017

Protein elongation variant of PUF60: Milder phenotypic end of the Verheij syndrome

scientific article published on 27 August 2020

SATB2-associated syndrome in patients from Japan: Linguistic profiles

scientific article published on 07 March 2019

Schuurs-Hoeijmakers syndrome in two patients from Japan

scientific article published on 27 December 2018

Severe Noonan syndrome phenotype associated with a germline Q71R MRAS variant: a recurrent substitution in RAS homologs in various cancers

scientific article published on 07 June 2019

Shortfall of exome analysis for diagnosis of Shwachman-Diamond syndrome: Mismapping due to the pseudogene SBDSP1

scientific article published on 15 May 2020

Systemic lupus erythematosus in a patient with Noonan syndrome-like disorder with loose anagen hair 1: More than a chance association

scientific article published on 07 May 2018

Three patients with DeSanto-Shinawi syndrome: Further phenotypic delineation

scientific article published on 16 April 2018

Truncating mutation in CSNK2B and myoclonic epilepsy.

scientific article published on 14 September 2017

List of works by Tomoko Uehara

A case of autism spectrum disorder with cleft lip and palate carrying a mutation in exon 8 of AUTS2

Ablepharon and craniosynostosis in a patient with a localized TWIST1 basic domain substitution

Biallelic loss of OTUD7A causes severe muscular hypotonia, intellectual disability, and seizures

Biallelic mutations in NALCN: Expanding the genotypic and phenotypic spectra of IHPRF1.

CNOT2 as the critical gene for phenotypes of 12q15 microdeletion syndrome

CNOT2 haploinsufficiency causes a neurodevelopmental disorder with characteristic facial features

Co-occurrence of Sturge-Weber syndrome and Klippel-Trenaunay-Weber syndrome phenotype: Consideration of the historical aspect.

Coloboma may be a shared feature in a spectrum of disorders caused by mutations in the WDR37-PACS1-PACS2 axis

Consecutive medical exome analysis at a tertiary center: Diagnostic and health-economic outcomes

Diagnostic use of computational retrotransposon detection: Successful definition of pathogenetic mechanism in a ciliopathy phenotype.

Diagnostic utility of integrated analysis of exome and transcriptome: Successful diagnosis of Au-Kline syndrome in a patient with submucous cleft palate, scaphocephaly, and intellectual disabilities

EstablishingSONin 21q22.11 as a cause a new syndromic form of intellectual disability: Possible contribution to Braddock-Carey syndrome phenotype

Expansion of the phenotype of Kosaki overgrowth syndrome

Further evidence of a mutation in CDC42 as a cause of a recognizable syndromic form of thrombocytopenia.

Further evidence that a blepharophimosis syndrome phenotype is associated with a specific class of mutation in the ADNP gene.

Growth pattern of Rahman syndrome

H+/myo-inositol transporter genes, hmit-1.1 and hmit-1.2, have roles in the osmoprotective response in Caenorhabditis elegans

Haploinsufficiency of NCOR1 associated with autism spectrum disorder, scoliosis, and abnormal palatogenesis

Hirschsprung disease as a yet undescribed phenotype in a patient with ARID1B mutation.

IFT172 as the 19th gene causative of oral-facial-digital syndrome

Learning disability and myoclonic epilepsy associated with apparently synonymous but splice-disrupting JMJD1C variant that led to 21 bp deletion of the transcript

Noninvasive diagnosis of TRIT1-related mitochondrial disorder by measuring i6 A37 and ms2 i6 A37 modifications in tRNAs from blood and urine samples

Novel BICD2 mutation in a Japanese family with autosomal dominant lower extremity-predominant spinal muscular atrophy-2.

Parallel detection of single nucleotide variants and copy number variants with exome analysis: Validation in a cohort of 700 undiagnosed patients

Preaxial polydactyly in an individual with Wiedemann-Steiner syndrome caused by a novel nonsense mutation in KMT2A

Protein elongation variant of PUF60: Milder phenotypic end of the Verheij syndrome

SATB2-associated syndrome in patients from Japan: Linguistic profiles

Schuurs-Hoeijmakers syndrome in two patients from Japan

Severe Noonan syndrome phenotype associated with a germline Q71R MRAS variant: a recurrent substitution in RAS homologs in various cancers

Shortfall of exome analysis for diagnosis of Shwachman-Diamond syndrome: Mismapping due to the pseudogene SBDSP1

Systemic lupus erythematosus in a patient with Noonan syndrome-like disorder with loose anagen hair 1: More than a chance association

Three patients with DeSanto-Shinawi syndrome: Further phenotypic delineation

Truncating mutation in CSNK2B and myoclonic epilepsy.