Lista de obras - Richard Redon - Dominio Público Uruguay

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

artículo científico publicado en 2016

A consistent arrhythmogenic trait in Brugada syndrome cellular phenotype

artículo científico publicado en 2021

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

artículo científico publicado en 2018

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

artículo científico publicado en 2016

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

artículo científico publicado en 2006

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

artículo científico publicado en 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

artículo científico publicado en 2006

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

artículo científico publicado en 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.

artículo científico publicado en 2007

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

artículo científico publicado en 2013

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

Confirmed rare copy number variants implicate novel genes in schizophrenia

artículo científico publicado en 2010

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

artículo científico publicado en 2007

Copy number variation and evolution in humans and chimpanzees

artículo científico publicado en 2008

Copy number variation: new insights in genome diversity

artículo científico publicado en 2006

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

artículo científico publicado en 2019

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

artículo científico publicado en 2017

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.

artículo científico publicado en 2017

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

artículo científico publicado en 2016

Diet and the evolution of human amylase gene copy number variation

artículo científico publicado en 2007

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

artículo científico publicado en 2020

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

artículo científico publicado en 2017

Fine-scale human genetic structure in Western France

artículo científico publicado en 2014

Genetic association analyses highlight biological pathways underlying mitral valve prolapse

artículo científico publicado en 2015

Genetic investigations on intracranial aneurysm: update and perspectives

artículo científico publicado en 2015

Genome assembly comparison identifies structural variants in the human genome.

artículo científico publicado en 2006

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

artículo científico publicado en 2010

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

artículo científico publicado en 2020

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

artículo científico publicado en 2004

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

artículo científico publicado en 2004

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

artículo científico publicado en 2001

Global variation in copy number in the human genome

artículo científico publicado en 2006

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

artículo científico publicado en 2014

Identification of large families in early repolarization syndrome

artículo científico publicado en 2013

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

artículo científico publicado en 2016

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

artículo científico publicado en 2010

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

artículo científico publicado en 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.

artículo científico publicado en 2011

Large scale variation in DNA copy number in chicken breeds

artículo científico publicado en 2013

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

artículo científico publicado en 2010

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

artículo científico publicado en 2013

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

artículo científico publicado en 2007

NGS library preparation may generate artifactual integration sites of AAV vectors.

artículo científico publicado en 2014

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

artículo científico publicado en 2008

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

artículo científico publicado en 2010

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

artículo científico publicado en 2006

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

artículo científico publicado en 2014

Pitfalls in the use of DGV for CNV interpretation

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

artículo científico publicado en 2017

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

artículo científico publicado en 2007

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

artículo científico publicado en 2015

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

artículo científico publicado en 2020

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

artículo científico publicado en 2015

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

artículo científico publicado en 2011

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

artículo científico publicado en 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

artículo científico publicado en 2016

The role of DNA copy number variation in schizophrenia.

artículo científico publicado en 2009

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

artículo científico publicado en 2005

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

artículo científico publicado en 2011

Variants in the SCN5A Promoter Associated With Various Arrhythmia Phenotypes

artículo científico publicado en 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

artículo científico publicado en 2011

mod_bio: Apache modules for Next-Generation sequencing data

artículo científico publicado en 2014

Lista de obras de 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