List of works - Yasushi Totoki

A computational tool to detect DNA alterations tailored to formalin-fixed paraffin-embedded samples in cancer clinical sequencing.

scientific article published on 7 June 2018

A novel CIC-FOXO4 gene fusion in undifferentiated small round cell sarcoma: a genetically distinct variant of Ewing-like sarcoma

scientific article published on 01 November 2014

Aberrant PD-L1 expression through 3'-UTR disruption in multiple cancers.

scientific article published on 23 May 2016

Active role of small non-coding RNAs derived from SINE/B1 retrotransposon during early mouse development ⬇️

scientific article published on May 13, 2011

Analysis of small RNA profiles during development

scientific article published on 01 January 2007

Assessment of adaptive evolution between wheat and rice as deduced from full-length common wheat cDNA sequence data and expression patterns

scientific article

Cardiac intimal sarcoma with PDGFRβ mutation and co-amplification of PDGFRα and MDM2: an autopsy case analyzed by whole-exome sequencing.

scientific article

Characterization of expressed sequence tags from a full-length enriched cDNA library of Cryptomeria japonica male strobili

scientific article

Clinical Utility of Circulating Tumor DNA for Molecular Assessment and Precision Medicine in Pancreatic Cancer

scientific article published on January 2016

Clinical utility of circulating tumor DNA for molecular assessment in pancreatic cancer

scientific article

Comprehensive mutation profiling of mucinous gastric carcinoma

scientific article

Coupling deep transcriptome analysis with untargeted metabolic profiling in Ophiorrhiza pumila to further the understanding of the biosynthesis of the anti-cancer alkaloid camptothecin and anthraquinones

scientific article

DNA Adductome Analysis Identifies N-Nitrosopiperidine Involved in the Etiology of Esophageal Cancer in Cixian, China

scientific article published on 09 July 2019

DNA methylation of retrotransposon genes is regulated by Piwi family members MILI and MIWI2 in murine fetal testes

scientific journal article

DNA sequence and analysis of human chromosome 18

scientific article

Defined lifestyle and germline factors predispose Asian populations to gastric cancer

scientific article published on 06 May 2020

Downregulation of the microRNA biogenesis components and its association with poor prognosis in hepatocellular carcinoma ⬇️

scientific article published on March 20, 2013

Endogenous siRNAs from naturally formed dsRNAs regulate transcripts in mouse oocytes

scientific journal article

Ependymoma with C11orf95-MAML2 fusion: presenting with granular cell and ganglion cell features

scientific article published on 22 November 2020

Epigenetic landscape influences the liver cancer genome architecture.

scientific article published on 24 April 2018

Epigenome mapping of human normal purified hepatocytes: personal epigenome variation and genome–epigenome correlation

Erratum: Corrigendum: DNA sequence and analysis of human chromosome 18

scientific article published in Nature

Erratum: Corrigendum: Signatures of mutational processes in human cancer

scientific article published in Nature

Erratum: Whole-genome mutational landscape and characterization of noncoding and structural mutations in liver cancer

scientific article published on 01 May 2016

Expression and clinical significance of genes frequently mutated in small cell lung cancers defined by whole exome/RNA sequencing

scientific article published on 11 April 2015

Fibroblast growth factor receptor 2 tyrosine kinase fusions define a unique molecular subtype of cholangiocarcinoma

scientific article published on 18 February 2014

Functional annotation of 19,841 Populus nigra full-length enriched cDNA clones

scientific article

GC-09GENOME-WIDE DNA METHYLATION AND TRANSCRIPTOMIC PROFILING IN PRIMARY CENTRAL NERVOUS SYSTEM GERM CELL TUMORS SUGGESTS A PRIMORDIAL GERM CELL ORIGIN FOR GERMINOMA.

scientific article published on 30 May 2016

Genome-wide methylation profiles in primary intracranial germ cell tumors indicate a primordial germ cell origin for germinomas

scientific article published on 11 January 2017

Genome‐wide identification of genes with amplification and/or fusion in small cell lung cancer ⬇️

scientific article published on May 28, 2013

Genomic Sequencing Identifies ELF3 as a Driver of Ampullary Carcinoma

scientific article

Genomic spectra of biliary tract cancer.

scientific article

High-resolution characterization of a hepatocellular carcinoma genome

scientific article

Highly recurrent H3F3A mutations with additional epigenetic regulator alterations in giant cell tumor of bone

scientific article

Human chromosome 11 DNA sequence and analysis including novel gene identification

scientific article

Identification of an imprinted gene cluster in the X-inactivation center

scientific article

Initial and crucial genetic events in intestinal-type gastric intramucosal neoplasia

scientific article published on 16 January 2019

Initial sequencing and analysis of the human genome

scientific article published on 15 February 2001

Integrated genetic and epigenetic analysis of myxofibrosarcoma

scientific article published in Nature Communications

Integrated molecular analysis of adult T cell leukemia/lymphoma.

scientific article published on 5 October 2015

Integrative analysis of genomic alterations in triple-negative breast cancer in association with homologous recombination deficiency

scientific article

International network of cancer genome projects

scientific article

Involvement of telomerase reverse transcriptase in heterochromatin maintenance

scientific article

KIF5B-RET fusions in lung adenocarcinoma.

scientific article published on 12 February 2012

Large-scale collection and annotation of full-length enriched cDNAs from a model halophyte, Thellungiella halophila

scientific article

MITOPLD is a mitochondrial protein essential for nuage formation and piRNA biogenesis in the mouse germline

scientific journal article

MVH in piRNA processing and gene silencing of retrotransposons

scientific journal article

Molecular genomic landscapes of hepatobiliary cancer.

scientific article published on 23 March 2018

Mouse Model for ROS1-Rearranged Lung Cancer ⬇️

scientific article published on February 13, 2013

Mutational signatures associated with tobacco smoking in human cancer

scientific article (publication date: 3 November 2016)

Mutational signatures associated with tobacco smoking in human cancer

Novel bioresources for studies of Brassica oleracea: identification of a kale MYB transcription factor responsible for glucosinolate production

scientific article

Post-mortem Plasma Cell-Free DNA Sequencing: Proof-of-Concept Study for the "Liquid Autopsy"

scientific article published on 07 February 2020

Recurrent neomorphic mutations of MTOR in central nervous system and testicular germ cell tumors may be targeted for therapy

scientific article published on 8 March 2016

Role for piRNAs and noncoding RNA in de novo DNA methylation of the imprinted mouse Rasgrf1 locus.

scientific article

Sequencing and analysis of approximately 40,000 soybean cDNA clones from a full-length-enriched cDNA library.

scientific article

Small RNA class transition from siRNA/piRNA to miRNA during pre-implantation mouse development

scientific article

Targeting the Notch-regulated non-coding RNA TUG1 for glioma treatment

scientific article published on 06 December 2016

Trans-ancestry mutational landscape of hepatocellular carcinoma genomes

scientific article

Transcriptome analysis of soybean (Glycine max) root genes differentially expressed in rhizobial, arbuscular mycorrhizal, and dual symbiosis

scientific article published on 05 June 2019

Unique mutation portraits and frequent COL2A1 gene alteration in chondrosarcoma

scientific article

Variegated RHOA mutations in adult T-cell leukemia/lymphoma.

scientific article

WHOLE EXOME SEQUENCING IDENTIFIED THAT THE MAPK AND PI3K PATHWAYS ARE THE MAIN TARGETS FOR MUTATIONS IN INTRACRANIAL GERM CELL TUMORS.

scientific article published in July 2014

Whole exome sequencing to identify genetic markers for trastuzumab-induced cardiotoxicity.

scientific article published on 16 December 2017

Whole-Genome and Epigenomic Landscapes of Etiologically Distinct Subtypes of Cholangiocarcinoma.

scientific article published on 30 June 2017

Whole-exome Sequencing Reveals New Potential Susceptibility Genes for Japanese Familial Pancreatic Cancer

scientific article published on 18 August 2020

Whole-exome sequencing of human pancreatic cancers and characterization of genomic instability caused by MLH1 haploinsufficiency and complete deficiency

scientific article

Whole-genome mutational landscape and characterization of noncoding and structural mutations in liver cancer.

scientific article published on 11 April 2016

Whole-genome sequencing of liver cancers identifies etiological influences on mutation patterns and recurrent mutations in chromatin regulators

scientific article

List of works by Yasushi Totoki

A computational tool to detect DNA alterations tailored to formalin-fixed paraffin-embedded samples in cancer clinical sequencing.

A novel CIC-FOXO4 gene fusion in undifferentiated small round cell sarcoma: a genetically distinct variant of Ewing-like sarcoma

Aberrant PD-L1 expression through 3'-UTR disruption in multiple cancers.

Active role of small non-coding RNAs derived from SINE/B1 retrotransposon during early mouse development ⬇️

Analysis of small RNA profiles during development

Assessment of adaptive evolution between wheat and rice as deduced from full-length common wheat cDNA sequence data and expression patterns

Cardiac intimal sarcoma with PDGFRβ mutation and co-amplification of PDGFRα and MDM2: an autopsy case analyzed by whole-exome sequencing.

Characterization of expressed sequence tags from a full-length enriched cDNA library of Cryptomeria japonica male strobili

Clinical Utility of Circulating Tumor DNA for Molecular Assessment and Precision Medicine in Pancreatic Cancer

Clinical utility of circulating tumor DNA for molecular assessment in pancreatic cancer

Comprehensive mutation profiling of mucinous gastric carcinoma

Coupling deep transcriptome analysis with untargeted metabolic profiling in Ophiorrhiza pumila to further the understanding of the biosynthesis of the anti-cancer alkaloid camptothecin and anthraquinones

DNA Adductome Analysis Identifies N-Nitrosopiperidine Involved in the Etiology of Esophageal Cancer in Cixian, China

DNA methylation of retrotransposon genes is regulated by Piwi family members MILI and MIWI2 in murine fetal testes

DNA sequence and analysis of human chromosome 18

Defined lifestyle and germline factors predispose Asian populations to gastric cancer

Downregulation of the microRNA biogenesis components and its association with poor prognosis in hepatocellular carcinoma ⬇️

Endogenous siRNAs from naturally formed dsRNAs regulate transcripts in mouse oocytes

Ependymoma with C11orf95-MAML2 fusion: presenting with granular cell and ganglion cell features

Epigenetic landscape influences the liver cancer genome architecture.

Epigenome mapping of human normal purified hepatocytes: personal epigenome variation and genome–epigenome correlation

Erratum: Corrigendum: DNA sequence and analysis of human chromosome 18

Erratum: Corrigendum: Signatures of mutational processes in human cancer

Erratum: Whole-genome mutational landscape and characterization of noncoding and structural mutations in liver cancer

Expression and clinical significance of genes frequently mutated in small cell lung cancers defined by whole exome/RNA sequencing

Fibroblast growth factor receptor 2 tyrosine kinase fusions define a unique molecular subtype of cholangiocarcinoma

Functional annotation of 19,841 Populus nigra full-length enriched cDNA clones

GC-09GENOME-WIDE DNA METHYLATION AND TRANSCRIPTOMIC PROFILING IN PRIMARY CENTRAL NERVOUS SYSTEM GERM CELL TUMORS SUGGESTS A PRIMORDIAL GERM CELL ORIGIN FOR GERMINOMA.

Genome-wide methylation profiles in primary intracranial germ cell tumors indicate a primordial germ cell origin for germinomas

Genome‐wide identification of genes with amplification and/or fusion in small cell lung cancer ⬇️

Genomic Sequencing Identifies ELF3 as a Driver of Ampullary Carcinoma

Genomic spectra of biliary tract cancer.

High-resolution characterization of a hepatocellular carcinoma genome

Highly recurrent H3F3A mutations with additional epigenetic regulator alterations in giant cell tumor of bone

Human chromosome 11 DNA sequence and analysis including novel gene identification

Identification of an imprinted gene cluster in the X-inactivation center

Initial and crucial genetic events in intestinal-type gastric intramucosal neoplasia

Initial sequencing and analysis of the human genome

Integrated genetic and epigenetic analysis of myxofibrosarcoma

Integrated molecular analysis of adult T cell leukemia/lymphoma.

Integrative analysis of genomic alterations in triple-negative breast cancer in association with homologous recombination deficiency

International network of cancer genome projects

Involvement of telomerase reverse transcriptase in heterochromatin maintenance

KIF5B-RET fusions in lung adenocarcinoma.

Large-scale collection and annotation of full-length enriched cDNAs from a model halophyte, Thellungiella halophila

MITOPLD is a mitochondrial protein essential for nuage formation and piRNA biogenesis in the mouse germline

MVH in piRNA processing and gene silencing of retrotransposons

Molecular genomic landscapes of hepatobiliary cancer.

Mouse Model for ROS1-Rearranged Lung Cancer ⬇️

Mutational signatures associated with tobacco smoking in human cancer

Mutational signatures associated with tobacco smoking in human cancer

Novel bioresources for studies of Brassica oleracea: identification of a kale MYB transcription factor responsible for glucosinolate production

Post-mortem Plasma Cell-Free DNA Sequencing: Proof-of-Concept Study for the "Liquid Autopsy"

Recurrent neomorphic mutations of MTOR in central nervous system and testicular germ cell tumors may be targeted for therapy

Role for piRNAs and noncoding RNA in de novo DNA methylation of the imprinted mouse Rasgrf1 locus.

Sequencing and analysis of approximately 40,000 soybean cDNA clones from a full-length-enriched cDNA library.

Small RNA class transition from siRNA/piRNA to miRNA during pre-implantation mouse development

Targeting the Notch-regulated non-coding RNA TUG1 for glioma treatment

Trans-ancestry mutational landscape of hepatocellular carcinoma genomes

Transcriptome analysis of soybean (Glycine max) root genes differentially expressed in rhizobial, arbuscular mycorrhizal, and dual symbiosis

Unique mutation portraits and frequent COL2A1 gene alteration in chondrosarcoma

Variegated RHOA mutations in adult T-cell leukemia/lymphoma.

WHOLE EXOME SEQUENCING IDENTIFIED THAT THE MAPK AND PI3K PATHWAYS ARE THE MAIN TARGETS FOR MUTATIONS IN INTRACRANIAL GERM CELL TUMORS.

Whole exome sequencing to identify genetic markers for trastuzumab-induced cardiotoxicity.

Whole-Genome and Epigenomic Landscapes of Etiologically Distinct Subtypes of Cholangiocarcinoma.

Whole-exome Sequencing Reveals New Potential Susceptibility Genes for Japanese Familial Pancreatic Cancer

Whole-exome sequencing of human pancreatic cancers and characterization of genomic instability caused by MLH1 haploinsufficiency and complete deficiency

Whole-genome mutational landscape and characterization of noncoding and structural mutations in liver cancer.

Whole-genome sequencing of liver cancers identifies etiological influences on mutation patterns and recurrent mutations in chromatin regulators