List of works - Steven G. Rozen

A functional network of gastric-cancer-associated splicing events controlled by dysregulated splicing factors

scientific article published on 28 February 2020

A physical map of the human Y chromosome

scientific article published in Nature

A simple procedure for the analysis of single nucleotide polymorphisms facilitates map-based cloning in Arabidopsis

scientific article published on 01 December 2000

A tumor-associated splice-isoform of MAP2K7 drives dedifferentiation in MBNL1-low cancers via JNK activation

scientific article published on 29 June 2020

AZFc deletions and spermatogenic failure: a population-based survey of 20,000 Y chromosomes

scientific article

Abundant copy-number loss of CYCLOPS and STOP genes in gastric adenocarcinoma

scientific article published on 24 July 2015

Abundant gene conversion between arms of palindromes in human and ape Y chromosomes.

scientific article

Alterations in metabolic pathways and networks in Alzheimer's disease

scientific article published on 9 April 2013

Altered interactions of tryptophan metabolites in first-episode neuroleptic-naive patients with schizophrenia.

scientific article

Aristolochic acids and their derivatives are widely implicated in liver cancers in Taiwan and throughout Asia

scientific article published in October 2017

CYP1B1, MYOC, and LTBP2 mutations in primary congenital glaucoma patients in the United States.

scientific article published on 04 December 2012

Characterization of colibactin-associated mutational signature in an Asian oral squamous cell carcinoma and in other mucosal tumor types

scientific article published on 06 July 2020

Defending Male Fertility ⬇️

scientific article published on July 20, 2011

Differential pulmonary transcriptomic profiles in murine lungs infected with low and highly virulent influenza H3N2 viruses reveal dysregulation of TREM1 signaling, cytokines, and chemokines.

scientific article

Digital phenotyping by consumer wearables identifies sleep-associated markers of cardiovascular disease risk and biological aging

scientific article published on 04 October 2019

Epigenomic profiling of primary gastric adenocarcinoma reveals super-enhancer heterogeneity

scientific article published on 28 September 2016

Evaluation and optimisation of indel detection workflows for ion torrent sequencing of the BRCA1 and BRCA2 genes

scientific article

Exome sequencing identifies distinct mutational patterns in liver fluke-related and non-infection-related bile duct cancers

scientific article published on 3 November 2013

Exome sequencing identifies highly recurrent MED12 somatic mutations in breast fibroadenoma.

scientific article

Exome sequencing of gastric adenocarcinoma identifies recurrent somatic mutations in cell adhesion and chromatin remodeling genes

scientific article published on 01 May 2012

Exome sequencing of liver fluke-associated cholangiocarcinoma

scientific article published on 06 May 2012

Exome-wide Sequencing Shows Low Mutation Rates and Identifies Novel Mutated Genes in Seminomas

scientific article published on 14 January 2015

Extensive diversity in circadian regulation of plasma lipids and evidence for different circadian metabolic phenotypes in humans

scientific article published on 14 August 2013

Fanconi anemia gene variants in therapy-related myeloid neoplasms.

scientific article published on 3 July 2015

Fanconi's anemia in adulthood: chemoradiation-induced bone marrow failure and a novel FANCA mutation identified by targeted deep sequencing

scientific article published on 25 April 2011

First somatic mutation of E2F1 in a critical DNA binding residue discovered in well-differentiated papillary mesothelioma of the peritoneum.

scientific article published on 28 September 2011

Genetics of disease

scientific article published on 02 May 2006

Genome maps 7. The human transcript map. Wall chart

scientific article published in October 1996

Genome-wide mutational signatures of aristolochic acid and its application as a screening tool

scientific article

Genomic landscapes of breast fibroepithelial tumors

scientific article published on 5 October 2015

Genomics and genetics of human and primate y chromosomes.

scientific article published on 05 April 2012

Has the chimpanzee Y chromosome been sequenced?

scientific article published in August 2006

HoxC5 and miR-615-3p target newly evolved genomic regions to repress hTERT and inhibit tumorigenesis

scientific article published on 8 January 2018

Identification of molecular subtypes of gastric cancer with different responses to PI3-kinase inhibitors and 5-fluorouracil

scientific article published on 14 May 2013

Improving indel detection specificity of the Ion Torrent PGM benchtop sequencer

scientific article

Intrinsic subtypes of gastric cancer, based on gene expression pattern, predict survival and respond differently to chemotherapy

scientific article

Large-scale identification, mapping, and genotyping of single-nucleotide polymorphisms in the human genome

scientific article (publication date: 15 May 1998)

Lipidomics identifies a requirement for peroxisomal function during influenza virus replication

scientific article

Loss of tumor suppressor KDM6A amplifies PRC2-regulated transcriptional repression in bladder cancer and can be targeted through inhibition of EZH2.

scientific article published on February 2017

MSIseq: Software for Assessing Microsatellite Instability from Catalogs of Somatic Mutations

scientific article

Massively parallel sequencing of patients with intellectual disability, congenital anomalies and/or autism spectrum disorders with a targeted gene panel

scientific article published on April 2014

Metabolomics in early Alzheimer's disease: identification of altered plasma sphingolipidome using shotgun lipidomics

scientific article

Mutation signatures of carcinogen exposure: genome-wide detection and new opportunities for cancer prevention

scientific article

Mutational landscapes of tongue carcinoma reveal recurrent mutations in genes of therapeutic and prognostic relevance.

scientific article

Pathogenesis of cholangiocarcinoma: From genetics to signalling pathways

scientific article published on 17 February 2015

Primer-BLAST: A tool to design target-specific primers for polymerase chain reaction ⬇️

scientific article published on June 18, 2012

Primer3--new capabilities and interfaces

scientific article (publication date: August 2012)

Regionally-specified second trimester fetal neural stem cells reveals differential neurogenic programming

scientific article

Regulatory crosstalk between lineage-survival oncogenes KLF5, GATA4 and GATA6 cooperatively promotes gastric cancer development.

scientific article published on 22 July 2014

Remarkably little variation in proteins encoded by the Y chromosome's single-copy genes, implying effective purifying selection.

scientific article published on December 2009

TEX11 is mutated in infertile men with azoospermia and regulates genome-wide recombination rates in mouse.

scientific article

TP53 Genomic Status Regulates Sensitivity of Gastric Cancer Cells to the Histone Methylation Inhibitor 3-Deazaneplanocin A (DZNep) ⬇️

scientific article published on June 6, 2012

The AZFc region of the Y chromosome features massive palindromes and uniform recurrent deletions in infertile men.

scientific article published in November 2001

The LabBase system for data management in large scale biology research laboratories ⬇️

scientific article published on January 1, 1998

The draft genome of tropical fruit durian (Durio zibethinus).

scientific article published on 9 October 2017

The uric acid transporter SLC2A9 is a direct target gene of the tumor suppressor p53 contributing to antioxidant defense.

scientific article

Whole exome sequencing identifies a mutation for a novel form of corneal intraepithelial dyskeratosis

scientific article

Whole-exome sequencing studies of parathyroid carcinomas reveal novel PRUNE2 mutations, distinctive mutational spectra related to APOBEC-catalyzed DNA mutagenesis and mutational enrichment in kinases associated with cell migration and invasion

scientific article

Whole-genome reconstruction and mutational signatures in gastric cancer.

scientific article

Wnt proteins synergize to activate β-catenin signaling.

scientific article published on 13 March 2017

mTORC1 inhibition restricts inflammation-associated gastrointestinal tumorigenesis in mice

scientific article published on 16 January 2013

List of works by Steven G. Rozen

A functional network of gastric-cancer-associated splicing events controlled by dysregulated splicing factors

A physical map of the human Y chromosome

A simple procedure for the analysis of single nucleotide polymorphisms facilitates map-based cloning in Arabidopsis

A tumor-associated splice-isoform of MAP2K7 drives dedifferentiation in MBNL1-low cancers via JNK activation

AZFc deletions and spermatogenic failure: a population-based survey of 20,000 Y chromosomes

Abundant copy-number loss of CYCLOPS and STOP genes in gastric adenocarcinoma

Abundant gene conversion between arms of palindromes in human and ape Y chromosomes.

Alterations in metabolic pathways and networks in Alzheimer's disease

Altered interactions of tryptophan metabolites in first-episode neuroleptic-naive patients with schizophrenia.

Aristolochic acids and their derivatives are widely implicated in liver cancers in Taiwan and throughout Asia

CYP1B1, MYOC, and LTBP2 mutations in primary congenital glaucoma patients in the United States.

Characterization of colibactin-associated mutational signature in an Asian oral squamous cell carcinoma and in other mucosal tumor types

Defending Male Fertility ⬇️

Differential pulmonary transcriptomic profiles in murine lungs infected with low and highly virulent influenza H3N2 viruses reveal dysregulation of TREM1 signaling, cytokines, and chemokines.

Digital phenotyping by consumer wearables identifies sleep-associated markers of cardiovascular disease risk and biological aging

Epigenomic profiling of primary gastric adenocarcinoma reveals super-enhancer heterogeneity

Evaluation and optimisation of indel detection workflows for ion torrent sequencing of the BRCA1 and BRCA2 genes

Exome sequencing identifies distinct mutational patterns in liver fluke-related and non-infection-related bile duct cancers

Exome sequencing identifies highly recurrent MED12 somatic mutations in breast fibroadenoma.

Exome sequencing of gastric adenocarcinoma identifies recurrent somatic mutations in cell adhesion and chromatin remodeling genes

Exome sequencing of liver fluke-associated cholangiocarcinoma

Exome-wide Sequencing Shows Low Mutation Rates and Identifies Novel Mutated Genes in Seminomas

Extensive diversity in circadian regulation of plasma lipids and evidence for different circadian metabolic phenotypes in humans

Fanconi anemia gene variants in therapy-related myeloid neoplasms.

Fanconi's anemia in adulthood: chemoradiation-induced bone marrow failure and a novel FANCA mutation identified by targeted deep sequencing

First somatic mutation of E2F1 in a critical DNA binding residue discovered in well-differentiated papillary mesothelioma of the peritoneum.

Genetics of disease

Genome maps 7. The human transcript map. Wall chart

Genome-wide mutational signatures of aristolochic acid and its application as a screening tool

Genomic landscapes of breast fibroepithelial tumors

Genomics and genetics of human and primate y chromosomes.

Has the chimpanzee Y chromosome been sequenced?

HoxC5 and miR-615-3p target newly evolved genomic regions to repress hTERT and inhibit tumorigenesis

Identification of molecular subtypes of gastric cancer with different responses to PI3-kinase inhibitors and 5-fluorouracil

Improving indel detection specificity of the Ion Torrent PGM benchtop sequencer

Intrinsic subtypes of gastric cancer, based on gene expression pattern, predict survival and respond differently to chemotherapy

Large-scale identification, mapping, and genotyping of single-nucleotide polymorphisms in the human genome

Lipidomics identifies a requirement for peroxisomal function during influenza virus replication

Loss of tumor suppressor KDM6A amplifies PRC2-regulated transcriptional repression in bladder cancer and can be targeted through inhibition of EZH2.

MSIseq: Software for Assessing Microsatellite Instability from Catalogs of Somatic Mutations

Massively parallel sequencing of patients with intellectual disability, congenital anomalies and/or autism spectrum disorders with a targeted gene panel

Metabolomics in early Alzheimer's disease: identification of altered plasma sphingolipidome using shotgun lipidomics

Mutation signatures of carcinogen exposure: genome-wide detection and new opportunities for cancer prevention

Mutational landscapes of tongue carcinoma reveal recurrent mutations in genes of therapeutic and prognostic relevance.

Pathogenesis of cholangiocarcinoma: From genetics to signalling pathways

Primer-BLAST: A tool to design target-specific primers for polymerase chain reaction ⬇️

Primer3--new capabilities and interfaces

Regionally-specified second trimester fetal neural stem cells reveals differential neurogenic programming

Regulatory crosstalk between lineage-survival oncogenes KLF5, GATA4 and GATA6 cooperatively promotes gastric cancer development.

Remarkably little variation in proteins encoded by the Y chromosome's single-copy genes, implying effective purifying selection.

TEX11 is mutated in infertile men with azoospermia and regulates genome-wide recombination rates in mouse.

TP53 Genomic Status Regulates Sensitivity of Gastric Cancer Cells to the Histone Methylation Inhibitor 3-Deazaneplanocin A (DZNep) ⬇️

The AZFc region of the Y chromosome features massive palindromes and uniform recurrent deletions in infertile men.

The LabBase system for data management in large scale biology research laboratories ⬇️

The draft genome of tropical fruit durian (Durio zibethinus).

The uric acid transporter SLC2A9 is a direct target gene of the tumor suppressor p53 contributing to antioxidant defense.

Whole exome sequencing identifies a mutation for a novel form of corneal intraepithelial dyskeratosis

Whole-exome sequencing studies of parathyroid carcinomas reveal novel PRUNE2 mutations, distinctive mutational spectra related to APOBEC-catalyzed DNA mutagenesis and mutational enrichment in kinases associated with cell migration and invasion

Whole-genome reconstruction and mutational signatures in gastric cancer.

Wnt proteins synergize to activate β-catenin signaling.

mTORC1 inhibition restricts inflammation-associated gastrointestinal tumorigenesis in mice