List of works - Stéphane Bézieau

Identification of Genetic Susceptibility Loci for Colorectal Tumors in a Genome-Wide Meta-analysis

scientific article published on 22 December 2012

Identification of SLC39A4, a gene involved in acrodermatitis enteropathica

scientific article (publication date: July 2002)

Common variants at SCN5A-SCN10A and HEY2 are associated with Brugada syndrome, a rare disease with high risk of sudden cardiac death

scientific article

Meta-analysis of new genome-wide association studies of colorectal cancer risk

scientific article published on 15 July 2011

Truncating mutations in the last exon of NOTCH2 cause a rare skeletal disorder with osteoporosis

scientific article

Characterization of gene-environment interactions for colorectal cancer susceptibility loci

scientific article

High incidence of N and K-Ras activating mutations in multiple myeloma and primary plasma cell leukemia at diagnosis

scientific article published on 01 September 2001

Unexpected frequency of Upshaw-Schulman syndrome in pregnancy-onset thrombotic thrombocytopenic purpura

scientific article published on April 30, 2012

Genome-wide association study of colorectal cancer identifies six new susceptibility loci

scientific article published on 07 July 2015

An update on mutations of the SLC39A4 gene in acrodermatitis enteropathica

scientific article published on June 2009

HLA-E/β2 microglobulin overexpression in colorectal cancer is associated with recruitment of inhibitory immune cells and tumor progression

scientific article published on 5 April 2012

Combinations of cytochrome P450 gene polymorphisms enhancing the risk for sporadic colorectal cancer related to red meat consumption

scientific article published in July 2007

Trans-ethnic genome-wide association study of colorectal cancer identifies a new susceptibility locus in VTI1A.

scientific article

Low-penetrance alleles predisposing to sporadic colorectal cancers: a French case-controlled genetic association study

scientific article

Testing the burden of rare variation in arrhythmia-susceptibility genes provides new insights into molecular diagnosis for Brugada syndrome

article

Penetrance of marked cognitive impairment in older male carriers of the FMR1 gene premutation.

scientific article published on 18 June 2009

Cross-Cancer Genome-Wide Analysis of Lung, Ovary, Breast, Prostate, and Colorectal Cancer Reveals Novel Pleiotropic Associations

scientific article

Discovery of common and rare genetic risk variants for colorectal cancer

scientific article published on 03 December 2018

A ras-mutated peptide targeted by CTL infiltrating a human melanoma lesion

scientific article published on May 2002

Identification of two novel mutations in Shh long-range regulator associated with familial pre-axial polydactyly

scientific article published on 01 April 2011

Germline De Novo Mutations in GNB1 Cause Severe Neurodevelopmental Disability, Hypotonia, and Seizures

scientific article published on 20 April 2016

De Novo Mutations in Protein Kinase Genes CAMK2A and CAMK2B Cause Intellectual Disability.

scientific article published in November 2017

Mutations in EBF3 Disturb Transcriptional Profiles and Cause Intellectual Disability, Ataxia, and Facial Dysmorphism

scientific journal article

Genome-wide search for gene-gene interactions in colorectal cancer

scientific article

Mutation spectrum of human SLC39A4 in a panel of patients with acrodermatitis enteropathica

scientific article

Telomere structure and maintenance gene variants and risk of five cancer types

scientific article published on 15 December 2016

SBERIA: set-based gene-environment interaction test for rare and common variants in complex diseases

scientific article published on 29 May 2013

Safety and Long-Term Efficacy of AAV4 Gene Therapy in Patients with RPE65 Leber Congenital Amaurosis

scientific article published on September 19, 2017

Novel Common Genetic Susceptibility Loci for Colorectal Cancer

scientific article published on 01 February 2019

De Novo Disruption of the Proteasome Regulatory Subunit PSMD12 Causes a Syndromic Neurodevelopmental Disorder

scientific article

Genetic predictors of circulating 25-hydroxyvitamin d and risk of colorectal cancer

scientific article published on 27 August 2013

Construction of a 780-kb PAC, BAC, and cosmid contig encompassing the minimal critical deletion involved in B cell chronic lymphocytic leukemia at 13q14.3.

scientific article published in December 1997

Cardiac characteristics and long-term outcome in Andersen-Tawil syndrome patients related to KCNJ2 mutation

scientific article published on 17 July 2013

Prevalence, biological phenotype and genotype in moderate/mild hemophilia A with discrepancy between one‐stage and chromogenic factor VIII activity

scientific article published on March 1, 2011

Mutations in FAM111B cause hereditary fibrosing poikiloderma with tendon contracture, myopathy, and pulmonary fibrosis

scientific article

ADAM15 to α5β1 integrin switch in colon carcinoma cells: A late event in cancer progression associated with tumor dedifferentiation and poor prognosis

article

Biallelic Variants in OTUD6B Cause an Intellectual Disability Syndrome Associated with Seizures and Dysmorphic Features

scientific article published on 21 March 2017

De Novo Truncating Mutations in the Kinetochore-Microtubules Attachment Gene CHAMP1 Cause Syndromic Intellectual Disability

scientific article published on 11 January 2016

A genome-wide association study for colorectal cancer identifies a risk locus in 14q23.1.

scientific article

Comprehensive analysis of a large genomic sequence at the putative B-cell chronic lymphocytic leukaemia (B-CLL) tumour suppresser gene locus

scientific article (publication date: December 2001)

Over-expression of neurotensin high-affinity receptor 1 (NTS1) in relation with its ligand neurotensin (NT) and nuclear ß-catenin in inflammatory bowel disease-related oncogenesis

article

Novel KCNB1 mutation associated with non-syndromic intellectual disability

scientific article published on 8 December 2016

Identification of a common variant with potential pleiotropic effect on risk of inflammatory bowel disease and colorectal cancer

scientific article

Complex Compound Inheritance of Lethal Lung Developmental Disorders Due to Disruption of the TBX-FGF Pathway

scientific article published on 10 January 2019

Exclusion of Leu1 and Leu2 genes as tumor suppressor genes in 13q14.3-deleted B-CLL

article

De Novo Missense Mutations in DHX30 Impair Global Translation and Cause a Neurodevelopmental Disorder.

scientific article published in November 2017

Genome-Wide Interaction Analyses between Genetic Variants and Alcohol Consumption and Smoking for Risk of Colorectal Cancer

scientific article

Assignment of 48 ESTs to Chromosome 13 Band q14.3 and Expression Pattern for ESTs Located in the Core Region Deleted in B-CLL

scientific article published on 01 September 1998

Acute cytotoxicity of MIRA-1/NSC19630, a mutant p53-reactivating small molecule, against human normal and cancer cells via a caspase-9-dependent apoptosis

scientific article

Delineation of the infrequent mosaicism ofKRASmutational status in metastatic colorectal adenocarcinomas

scientific article published on 18 January 2012

List of works by Stéphane Bézieau

Identification of Genetic Susceptibility Loci for Colorectal Tumors in a Genome-Wide Meta-analysis

Identification of SLC39A4, a gene involved in acrodermatitis enteropathica

Common variants at SCN5A-SCN10A and HEY2 are associated with Brugada syndrome, a rare disease with high risk of sudden cardiac death

Meta-analysis of new genome-wide association studies of colorectal cancer risk

Truncating mutations in the last exon of NOTCH2 cause a rare skeletal disorder with osteoporosis

Characterization of gene-environment interactions for colorectal cancer susceptibility loci

High incidence of N and K-Ras activating mutations in multiple myeloma and primary plasma cell leukemia at diagnosis

Unexpected frequency of Upshaw-Schulman syndrome in pregnancy-onset thrombotic thrombocytopenic purpura

Genome-wide association study of colorectal cancer identifies six new susceptibility loci

An update on mutations of the SLC39A4 gene in acrodermatitis enteropathica

HLA-E/β2 microglobulin overexpression in colorectal cancer is associated with recruitment of inhibitory immune cells and tumor progression

Combinations of cytochrome P450 gene polymorphisms enhancing the risk for sporadic colorectal cancer related to red meat consumption

Trans-ethnic genome-wide association study of colorectal cancer identifies a new susceptibility locus in VTI1A.

Low-penetrance alleles predisposing to sporadic colorectal cancers: a French case-controlled genetic association study

Testing the burden of rare variation in arrhythmia-susceptibility genes provides new insights into molecular diagnosis for Brugada syndrome

Penetrance of marked cognitive impairment in older male carriers of the FMR1 gene premutation.

Cross-Cancer Genome-Wide Analysis of Lung, Ovary, Breast, Prostate, and Colorectal Cancer Reveals Novel Pleiotropic Associations

Discovery of common and rare genetic risk variants for colorectal cancer

A ras-mutated peptide targeted by CTL infiltrating a human melanoma lesion

Identification of two novel mutations in Shh long-range regulator associated with familial pre-axial polydactyly

Germline De Novo Mutations in GNB1 Cause Severe Neurodevelopmental Disability, Hypotonia, and Seizures

De Novo Mutations in Protein Kinase Genes CAMK2A and CAMK2B Cause Intellectual Disability.

Mutations in EBF3 Disturb Transcriptional Profiles and Cause Intellectual Disability, Ataxia, and Facial Dysmorphism

Genome-wide search for gene-gene interactions in colorectal cancer

Mutation spectrum of human SLC39A4 in a panel of patients with acrodermatitis enteropathica

Telomere structure and maintenance gene variants and risk of five cancer types

SBERIA: set-based gene-environment interaction test for rare and common variants in complex diseases

Safety and Long-Term Efficacy of AAV4 Gene Therapy in Patients with RPE65 Leber Congenital Amaurosis

Novel Common Genetic Susceptibility Loci for Colorectal Cancer

De Novo Disruption of the Proteasome Regulatory Subunit PSMD12 Causes a Syndromic Neurodevelopmental Disorder

Genetic predictors of circulating 25-hydroxyvitamin d and risk of colorectal cancer

Construction of a 780-kb PAC, BAC, and cosmid contig encompassing the minimal critical deletion involved in B cell chronic lymphocytic leukemia at 13q14.3.

Cardiac characteristics and long-term outcome in Andersen-Tawil syndrome patients related to KCNJ2 mutation

Prevalence, biological phenotype and genotype in moderate/mild hemophilia A with discrepancy between one‐stage and chromogenic factor VIII activity

Mutations in FAM111B cause hereditary fibrosing poikiloderma with tendon contracture, myopathy, and pulmonary fibrosis

ADAM15 to α5β1 integrin switch in colon carcinoma cells: A late event in cancer progression associated with tumor dedifferentiation and poor prognosis

Biallelic Variants in OTUD6B Cause an Intellectual Disability Syndrome Associated with Seizures and Dysmorphic Features

De Novo Truncating Mutations in the Kinetochore-Microtubules Attachment Gene CHAMP1 Cause Syndromic Intellectual Disability

A genome-wide association study for colorectal cancer identifies a risk locus in 14q23.1.

Comprehensive analysis of a large genomic sequence at the putative B-cell chronic lymphocytic leukaemia (B-CLL) tumour suppresser gene locus

Over-expression of neurotensin high-affinity receptor 1 (NTS1) in relation with its ligand neurotensin (NT) and nuclear ß-catenin in inflammatory bowel disease-related oncogenesis

Novel KCNB1 mutation associated with non-syndromic intellectual disability

Identification of a common variant with potential pleiotropic effect on risk of inflammatory bowel disease and colorectal cancer

Complex Compound Inheritance of Lethal Lung Developmental Disorders Due to Disruption of the TBX-FGF Pathway

Exclusion of Leu1 and Leu2 genes as tumor suppressor genes in 13q14.3-deleted B-CLL

De Novo Missense Mutations in DHX30 Impair Global Translation and Cause a Neurodevelopmental Disorder.

Genome-Wide Interaction Analyses between Genetic Variants and Alcohol Consumption and Smoking for Risk of Colorectal Cancer

Assignment of 48 ESTs to Chromosome 13 Band q14.3 and Expression Pattern for ESTs Located in the Core Region Deleted in B-CLL

Acute cytotoxicity of MIRA-1/NSC19630, a mutant p53-reactivating small molecule, against human normal and cancer cells via a caspase-9-dependent apoptosis

Delineation of the infrequent mosaicism ofKRASmutational status in metastatic colorectal adenocarcinomas