List of works - Hiroyuki Mishima

A homozygous splice site ROBO1 mutation in a patient with a novel syndrome with combined pituitary hormone deficiency

scientific article published on 28 January 2019

A significant association between rs8067378 at 17q12 and invasive cervical cancer originally identified by a genome-wide association study in Han Chinese is replicated in a Japanese population

scientific article published on 19 May 2016

A unique missense variant in the E1A-binding protein P400 gene is implicated in schizophrenia by whole-exome sequencing and mutant mouse models

scientific article published on 18 February 2021

Agile parallel bioinformatics workflow management using Pwrake ⬇️

scientific article published on 08 September 2011

Application of the Linux cluster for exhaustive window haplotype analysis using the FBAT and Unphased programs

scientific article

BioHackathon 2015: Semantics of data for life sciences and reproducible research

scientific article published on 24 February 2020

Biogem: an effective tool-based approach for scaling up open source software development in bioinformatics

scientific article

Characterization of placenta-specific microRNAs in fetal growth restriction pregnancy

scientific article published on 27 January 2013

Circulating levels of maternal plasma cell-free pregnancy-associated placenta-specific microRNAs are associated with placental weight

scientific article published on 26 June 2014

Clinical applications of analysis of plasma circulating complete hydatidiform mole pregnancy-associated miRNAs in gestational trophoblastic neoplasia: a preliminary investigation

scientific article published on 26 June 2014

Clonal dynamics in a case of acute monoblastic leukemia that later developed myeloproliferative neoplasm.

scientific article published on 7 February 2018

Copy number variation of the antimicrobial-gene, defensin beta 4, is associated with susceptibility to cervical cancer

scientific article

Deep sequencing reveals variations in somatic cell mosaic mutations between monozygotic twins with discordant psychiatric disease

scientific article published on 27 July 2017

Detection of de novo single nucleotide variants in offspring of atomic-bomb survivors close to the hypocenter by whole-genome sequencing

scientific article published on 26 December 2017

Evaluation of Face2Gene using facial images of patients with congenital dysmorphic syndromes recruited in Japan

scientific article published on 29 May 2019

Genome analysis of myelodysplastic syndromes among atomic bomb survivors in Nagasaki

scientific article published on 31 January 2020

Genome-wide association study of HPV-associated cervical cancer in Japanese women

scientific journal article

Germline mutations causing familial lung cancer

scientific article

Heterogenous nature of gene expression patterns in BRAF-like papillary thyroid carcinomas with BRAFV600E

scientific article published on 02 September 2019

Identification of a homozygous frameshift variant in RFLNA in a patient with a typical phenotype of spondylocarpotarsal synostosis syndrome

scientific article published on 22 February 2019

Identification of a variant-associated with early-onset diabetes in the intron of INS gene with exome sequencing

article

Identification of endometrioid endometrial carcinoma-associated microRNAs in tissue and plasma

scientific article

Identification of novel schizophrenia loci by homozygosity mapping using DNA microarray analysis

scientific article

KAT6B-related disorder in a patient with a novel frameshift variant (c.3925dup)

scientific article published on 13 December 2019

Maternal uniparental isodisomy and heterodisomy on chromosome 6 encompassing a CUL7 gene mutation causing 3M syndrome

scientific article published on 20 December 2010

Metabolic autopsy with next generation sequencing in sudden unexpected death in infancy: Postmortem diagnosis of fatty acid oxidation disorders

scientific article

Mutations in UVSSA cause UV-sensitive syndrome and impair RNA polymerase IIo processing in transcription-coupled nucleotide-excision repair

scientific article

Nonsense mutation in CFAP43 causes normal-pressure hydrocephalus with ciliary abnormalities

scientific article published on 19 April 2019

Novel compound heterozygous DNA ligase IV mutations in an adolescent with a slowly-progressing radiosensitive-severe combined immunodeficiency

scientific article published on 11 July 2015

Patients with SATB2-associated syndrome exhibiting multiple odontomas

scientific article published on 21 December 2018

Predominantly placenta-expressed mRNAs in maternal plasma as predictive markers for twin-twin transfusion syndrome

scientific article published on 17 January 2014

Pregnancy-associated microRNAs in plasma as potential molecular markers of ectopic pregnancy

scientific article published on 13 March 2015

Proteasome assembly defect due to a proteasome subunit beta type 8 (PSMB8) mutation causes the autoinflammatory disorder, Nakajo-Nishimura syndrome.

scientific article

Sick sinus syndrome with HCN4 mutations shows early onset and frequent association with atrial fibrillation and left ventricular noncompaction

scientific article published on 16 January 2017

Single human papillomavirus 16 or 52 infection and later cytological findings in Japanese women with NILM or ASC-US.

scientific article published on 13 February 2014

Target Capture/Next-Generation Sequencing for Nonsyndromic Cleft Lip and Palate in the Japanese Population

scientific article published on 23 July 2019

Targeting Adaptive IRE1α Signaling and PLK2 in Multiple Myeloma: Possible Anti-Tumor Mechanisms of KIRA8 and Nilotinib

scientific article published on 31 August 2020

The Ruby UCSC API: accessing the UCSC genome database using Ruby ⬇️

scientific article published on September 21, 2012

Three brothers with a nonsense mutation in KAT6A caused by parental germline mosaicism

scientific article published on 09 November 2017

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

scientific article published on 9 March 2016

Uniparental disomy analysis in trios using genome-wide SNP array and whole-genome sequencing data imply segmental uniparental isodisomy in general populations.

scientific article

Whole-exome sequencing and gene-based rare variant association tests suggest that PLA2G4E might be a risk gene for panic disorder.

scientific article published on 2 February 2018

List of works by Hiroyuki Mishima

A homozygous splice site ROBO1 mutation in a patient with a novel syndrome with combined pituitary hormone deficiency

A significant association between rs8067378 at 17q12 and invasive cervical cancer originally identified by a genome-wide association study in Han Chinese is replicated in a Japanese population

A unique missense variant in the E1A-binding protein P400 gene is implicated in schizophrenia by whole-exome sequencing and mutant mouse models

Agile parallel bioinformatics workflow management using Pwrake ⬇️

Application of the Linux cluster for exhaustive window haplotype analysis using the FBAT and Unphased programs

BioHackathon 2015: Semantics of data for life sciences and reproducible research

Biogem: an effective tool-based approach for scaling up open source software development in bioinformatics

Characterization of placenta-specific microRNAs in fetal growth restriction pregnancy

Circulating levels of maternal plasma cell-free pregnancy-associated placenta-specific microRNAs are associated with placental weight

Clinical applications of analysis of plasma circulating complete hydatidiform mole pregnancy-associated miRNAs in gestational trophoblastic neoplasia: a preliminary investigation

Clonal dynamics in a case of acute monoblastic leukemia that later developed myeloproliferative neoplasm.

Copy number variation of the antimicrobial-gene, defensin beta 4, is associated with susceptibility to cervical cancer

Deep sequencing reveals variations in somatic cell mosaic mutations between monozygotic twins with discordant psychiatric disease

Detection of de novo single nucleotide variants in offspring of atomic-bomb survivors close to the hypocenter by whole-genome sequencing

Evaluation of Face2Gene using facial images of patients with congenital dysmorphic syndromes recruited in Japan

Genome analysis of myelodysplastic syndromes among atomic bomb survivors in Nagasaki

Genome-wide association study of HPV-associated cervical cancer in Japanese women

Germline mutations causing familial lung cancer

Heterogenous nature of gene expression patterns in BRAF-like papillary thyroid carcinomas with BRAFV600E

Identification of a homozygous frameshift variant in RFLNA in a patient with a typical phenotype of spondylocarpotarsal synostosis syndrome

Identification of a variant-associated with early-onset diabetes in the intron of INS gene with exome sequencing

Identification of endometrioid endometrial carcinoma-associated microRNAs in tissue and plasma

Identification of novel schizophrenia loci by homozygosity mapping using DNA microarray analysis

KAT6B-related disorder in a patient with a novel frameshift variant (c.3925dup)

Maternal uniparental isodisomy and heterodisomy on chromosome 6 encompassing a CUL7 gene mutation causing 3M syndrome

Metabolic autopsy with next generation sequencing in sudden unexpected death in infancy: Postmortem diagnosis of fatty acid oxidation disorders

Mutations in UVSSA cause UV-sensitive syndrome and impair RNA polymerase IIo processing in transcription-coupled nucleotide-excision repair

Nonsense mutation in CFAP43 causes normal-pressure hydrocephalus with ciliary abnormalities

Novel compound heterozygous DNA ligase IV mutations in an adolescent with a slowly-progressing radiosensitive-severe combined immunodeficiency

Patients with SATB2-associated syndrome exhibiting multiple odontomas

Predominantly placenta-expressed mRNAs in maternal plasma as predictive markers for twin-twin transfusion syndrome

Pregnancy-associated microRNAs in plasma as potential molecular markers of ectopic pregnancy

Proteasome assembly defect due to a proteasome subunit beta type 8 (PSMB8) mutation causes the autoinflammatory disorder, Nakajo-Nishimura syndrome.

Sick sinus syndrome with HCN4 mutations shows early onset and frequent association with atrial fibrillation and left ventricular noncompaction

Single human papillomavirus 16 or 52 infection and later cytological findings in Japanese women with NILM or ASC-US.

Target Capture/Next-Generation Sequencing for Nonsyndromic Cleft Lip and Palate in the Japanese Population

Targeting Adaptive IRE1α Signaling and PLK2 in Multiple Myeloma: Possible Anti-Tumor Mechanisms of KIRA8 and Nilotinib

The Ruby UCSC API: accessing the UCSC genome database using Ruby ⬇️

Three brothers with a nonsense mutation in KAT6A caused by parental germline mosaicism

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

Uniparental disomy analysis in trios using genome-wide SNP array and whole-genome sequencing data imply segmental uniparental isodisomy in general populations.

Whole-exome sequencing and gene-based rare variant association tests suggest that PLA2G4E might be a risk gene for panic disorder.