List of works - Richard Redon

17q21.31 duplication causes prominent tau-related dementia with increased MAPT expression.

scientific article published on 13 December 2016

A consistent arrhythmogenic trait in Brugada syndrome cellular phenotype

scientific article published on 07 June 2021

A novel mutation in the TM6 domain of GABBR2 leads to a Rett-like phenotype.

scientific article

A robust statistical method for case-control association testing with copy number variation

scientific article published on 07 September 2008

ABCA7 rare variants and Alzheimer disease risk

scientific article published on April 2016

Accurate and reliable high-throughput detection of copy number variation in the human genome

scientific article

Advanced Characterization of DNA Molecules in rAAV Vector Preparations by Single-stranded Virus Next-generation Sequencing

scientific article published on 27 October 2015

Array-CGH for the Analysis of Constitutional Genomic Rearrangements

Array-based comparative genomic hybridisation identifies high frequency of cryptic chromosomal rearrangements in patients with syndromic autism spectrum disorders

scientific article published on 13 July 2006

Author Correction: Genome-wide association study of intracranial aneurysms identifies 17 risk loci and genetic overlap with clinical risk factors

scientific article published on 22 December 2020

Biallelic PPA2 Mutations Cause Sudden Unexpected Cardiac Arrest in Infancy

scientific journal article

Breaking the waves: improved detection of copy number variation from microarray-based comparative genomic hybridization.

scientific article

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

scientific article

Complex Brugada syndrome inheritance in a family harbouring compound SCN5A and CACNA1C mutations

Confirmed rare copy number variants implicate novel genes in schizophrenia

scientific article

Construction and use of spotted large-insert clone DNA microarrays for the detection of genomic copy number changes

scientific article

Copy number variation and evolution in humans and chimpanzees

scientific article published on 04 September 2008

Copy number variation: new insights in genome diversity

scientific article

Correction: Whole exome sequencing study identifies novel rare and common Alzheimer's-Associated variants involved in immune response and transcriptional regulation

scientific article published on 21 October 2019

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

scientific article

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

scientific article published on 01 April 2017

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

scientific article published in November 2017

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

scientific article published on 11 January 2016

Diet and the evolution of human amylase gene copy number variation

scientific article

Dysfunction of the Voltage-Gated K+ Channel β2 Subunit in a Familial Case of Brugada Syndrome

scientific article published on 10 June 2016

Enhancing rare variant interpretation in inherited arrhythmias through quantitative analysis of consortium disease cohorts and population controls

scientific article published on 7 September 2020

Familial Catecholamine-Induced QT Prolongation in Unexplained Sudden Cardiac Death.

scientific article

Fine-scale human genetic structure in Western France

scientific article published on 3 September 2014

Genetic association analyses highlight biological pathways underlying mitral valve prolapse

scientific article published on 24 August 2015

Genetic investigations on intracranial aneurysm: update and perspectives

scientific article

Genome assembly comparison identifies structural variants in the human genome.

scientific article

Genome-wide association study of CNVs in 16,000 cases of eight common diseases and 3,000 shared controls

scientific article

Genome-wide association study of intracranial aneurysms identifies 17 risk loci and genetic overlap with clinical risk factors

scientific article published on 16 November 2020

Genome-wide screening using automated fluorescent genotyping to detect cryptic cytogenetic abnormalities in children with idiopathic syndromic mental retardation.

scientific article published in August 2004

Genomic and expression profiling of chromosome 17 in breast cancer reveals complex patterns of alterations and novel candidate genes

scientific article published on September 2004

Genomic structure and chromosomal mapping of the gene coding for ICBP90, a protein involved in the regulation of the topoisomerase IIalpha gene expression

scientific article (publication date: 21 March 2001)

Global variation in copy number in the human genome

scientific article

HCN4 mutations in multiple families with bradycardia and left ventricular noncompaction cardiomyopathy

scientific article published in August 2014

Identification of large families in early repolarization syndrome

scientific article published in January 2013

Identification of novel APOB mutations by targeted next-generation sequencing for the molecular diagnosis of familial hypobetalipoproteinemia

scientific article published on 11 April 2016

Independent and population-specific association of risk variants at the IRGM locus with Crohn's disease

scientific article

Interstitial 9q22.3 microdeletion: clinical and molecular characterisation of a newly recognised overgrowth syndrome

scientific article published in June 2006

JfxNgs : A BAM/VCF viewer with javascript-based filtering/reformatting functionalities

Knime4Bio: a set of custom nodes for the interpretation of next-generation sequencing data with KNIME.

scientific article

Large scale variation in DNA copy number in chicken breeds

scientific article

Mesomelia-synostoses syndrome results from deletion of SULF1 and SLCO5A1 genes at 8q13.

scientific article

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

scientific article

Mutations in TCF4, encoding a class I basic helix-loop-helix transcription factor, are responsible for Pitt-Hopkins syndrome, a severe epileptic encephalopathy associated with autonomic dysfunction

scientific article

NGS library preparation may generate artifactual integration sites of AAV vectors

scientific article published in June 2014

New case of interstitial deletion 12(q15-q21.2) in a girl with facial dysmorphism and mental retardation

scientific article published in January 2008

Origins and functional impact of copy number variation in the human genome

scientific article (publication date: April 2010)

Overlapping 3q28 amplifications in the COMA cell line and undifferentiated primary sarcoma

scientific article

PDZ domain-binding motif regulates cardiomyocyte compartment-specific NaV1.5 channel expression and function.

scientific article

Pitfalls in the use of DGV for CNV interpretation

Progressive Atrial Conduction Defects Associated With Bone Malformation Caused by a Connexin-45 Mutation.

scientific article published in July 2017

Relative impact of nucleotide and copy number variation on gene expression phenotypes

scientific article (publication date: 9 February 2007)

Role of common and rare variants in SCN10A: results from the Brugada syndrome QRS locus gene discovery collaborative study.

scientific article published on 17 February 2015

SCN5A Mutation Type and a Genetic Risk Score Associate Variably with Brugada Syndrome Phenotype in SCN5A Families

scientific article published on 09 November 2020

SORL1 rare variants: a major risk factor for familial early-onset Alzheimer's disease.

scientific article published on 25 August 2015

Screening for copy number variation in genes associated with the long QT syndrome: clinical relevance.

scientific article

Search for Rare Copy-Number Variants in Congenital Heart Defects Identifies Novel Candidate Genes and a Potential Role for FOXC1 in Patients With Coarctation of the Aorta

scientific article published on 7 December 2015

Targeted resequencing identifies TRPM4 as a major gene predisposing to progressive familial heart block type I

article

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

article

The Brugada Syndrome: A Rare Arrhythmia Disorder with Complex Inheritance

scientific article

The role of DNA copy number variation in schizophrenia.

scientific article published on 12 September 2009

Tiling path resolution mapping of constitutional 1p36 deletions by array-CGH: contiguous gene deletion or "deletion with positional effect" syndrome?

scientific article published in February 2005

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

scientific article

Variants in the SCN5A Promoter Associated With Various Arrhythmia Phenotypes

scientific article published on 13 September 2016

Whole exome sequencing study identifies novel rare and common Alzheimer’s-Associated variants involved in immune response and transcriptional regulation

article

aCGH.Spline--an R package for aCGH dye bias normalization

scientific article published on 25 February 2011

mod_bio: Apache modules for Next-Generation sequencing data

scientific article

List of works by Richard Redon

17q21.31 duplication causes prominent tau-related dementia with increased MAPT expression.

A consistent arrhythmogenic trait in Brugada syndrome cellular phenotype

A novel mutation in the TM6 domain of GABBR2 leads to a Rett-like phenotype.

A robust statistical method for case-control association testing with copy number variation

ABCA7 rare variants and Alzheimer disease risk

Accurate and reliable high-throughput detection of copy number variation in the human genome

Advanced Characterization of DNA Molecules in rAAV Vector Preparations by Single-stranded Virus Next-generation Sequencing

Array-CGH for the Analysis of Constitutional Genomic Rearrangements

Array-based comparative genomic hybridisation identifies high frequency of cryptic chromosomal rearrangements in patients with syndromic autism spectrum disorders

Author Correction: Genome-wide association study of intracranial aneurysms identifies 17 risk loci and genetic overlap with clinical risk factors

Biallelic PPA2 Mutations Cause Sudden Unexpected Cardiac Arrest in Infancy

Breaking the waves: improved detection of copy number variation from microarray-based comparative genomic hybridization.

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

Complex Brugada syndrome inheritance in a family harbouring compound SCN5A and CACNA1C mutations

Confirmed rare copy number variants implicate novel genes in schizophrenia

Construction and use of spotted large-insert clone DNA microarrays for the detection of genomic copy number changes

Copy number variation and evolution in humans and chimpanzees

Copy number variation: new insights in genome diversity

Correction: Whole exome sequencing study identifies novel rare and common Alzheimer's-Associated variants involved in immune response and transcriptional regulation

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

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

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

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

Diet and the evolution of human amylase gene copy number variation

Dysfunction of the Voltage-Gated K+ Channel β2 Subunit in a Familial Case of Brugada Syndrome

Enhancing rare variant interpretation in inherited arrhythmias through quantitative analysis of consortium disease cohorts and population controls

Familial Catecholamine-Induced QT Prolongation in Unexplained Sudden Cardiac Death.

Fine-scale human genetic structure in Western France

Genetic association analyses highlight biological pathways underlying mitral valve prolapse

Genetic investigations on intracranial aneurysm: update and perspectives

Genome assembly comparison identifies structural variants in the human genome.

Genome-wide association study of CNVs in 16,000 cases of eight common diseases and 3,000 shared controls

Genome-wide association study of intracranial aneurysms identifies 17 risk loci and genetic overlap with clinical risk factors

Genome-wide screening using automated fluorescent genotyping to detect cryptic cytogenetic abnormalities in children with idiopathic syndromic mental retardation.

Genomic and expression profiling of chromosome 17 in breast cancer reveals complex patterns of alterations and novel candidate genes

Genomic structure and chromosomal mapping of the gene coding for ICBP90, a protein involved in the regulation of the topoisomerase IIalpha gene expression

Global variation in copy number in the human genome

HCN4 mutations in multiple families with bradycardia and left ventricular noncompaction cardiomyopathy

Identification of large families in early repolarization syndrome

Identification of novel APOB mutations by targeted next-generation sequencing for the molecular diagnosis of familial hypobetalipoproteinemia

Independent and population-specific association of risk variants at the IRGM locus with Crohn's disease

Interstitial 9q22.3 microdeletion: clinical and molecular characterisation of a newly recognised overgrowth syndrome

JfxNgs : A BAM/VCF viewer with javascript-based filtering/reformatting functionalities

Knime4Bio: a set of custom nodes for the interpretation of next-generation sequencing data with KNIME.

Large scale variation in DNA copy number in chicken breeds

Mesomelia-synostoses syndrome results from deletion of SULF1 and SLCO5A1 genes at 8q13.

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

Mutations in TCF4, encoding a class I basic helix-loop-helix transcription factor, are responsible for Pitt-Hopkins syndrome, a severe epileptic encephalopathy associated with autonomic dysfunction

NGS library preparation may generate artifactual integration sites of AAV vectors

New case of interstitial deletion 12(q15-q21.2) in a girl with facial dysmorphism and mental retardation

Origins and functional impact of copy number variation in the human genome

Overlapping 3q28 amplifications in the COMA cell line and undifferentiated primary sarcoma

PDZ domain-binding motif regulates cardiomyocyte compartment-specific NaV1.5 channel expression and function.

Pitfalls in the use of DGV for CNV interpretation

Progressive Atrial Conduction Defects Associated With Bone Malformation Caused by a Connexin-45 Mutation.

Relative impact of nucleotide and copy number variation on gene expression phenotypes

Role of common and rare variants in SCN10A: results from the Brugada syndrome QRS locus gene discovery collaborative study.

SCN5A Mutation Type and a Genetic Risk Score Associate Variably with Brugada Syndrome Phenotype in SCN5A Families

SORL1 rare variants: a major risk factor for familial early-onset Alzheimer's disease.

Screening for copy number variation in genes associated with the long QT syndrome: clinical relevance.

Search for Rare Copy-Number Variants in Congenital Heart Defects Identifies Novel Candidate Genes and a Potential Role for FOXC1 in Patients With Coarctation of the Aorta

Targeted resequencing identifies TRPM4 as a major gene predisposing to progressive familial heart block type I

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

The Brugada Syndrome: A Rare Arrhythmia Disorder with Complex Inheritance

The role of DNA copy number variation in schizophrenia.

Tiling path resolution mapping of constitutional 1p36 deletions by array-CGH: contiguous gene deletion or "deletion with positional effect" syndrome?

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

Variants in the SCN5A Promoter Associated With Various Arrhythmia Phenotypes

Whole exome sequencing study identifies novel rare and common Alzheimer’s-Associated variants involved in immune response and transcriptional regulation

aCGH.Spline--an R package for aCGH dye bias normalization

mod_bio: Apache modules for Next-Generation sequencing data