about
Independent and population-specific association of risk variants at the IRGM locus with Crohn's diseaseTruncating mutations in the last exon of NOTCH2 cause a rare skeletal disorder with osteoporosisGenome-wide association study of CNVs in 16,000 cases of eight common diseases and 3,000 shared controlsDiet and the evolution of human amylase gene copy number variationGlobal variation in copy number in the human genomeThe Brugada Syndrome: A Rare Arrhythmia Disorder with Complex InheritanceBiallelic PPA2 Mutations Cause Sudden Unexpected Cardiac Arrest in InfancyGenomic structure and chromosomal mapping of the gene coding for ICBP90, a protein involved in the regulation of the topoisomerase IIalpha gene expressionConfirmed rare copy number variants implicate novel genes in schizophreniaCommon variants at SCN5A-SCN10A and HEY2 are associated with Brugada syndrome, a rare disease with high risk of sudden cardiac deathMutations 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 dysfunctionOrigins and functional impact of copy number variation in the human genomeRelative impact of nucleotide and copy number variation on gene expression phenotypesGenome assembly comparison identifies structural variants in the human genome.mod_bio: Apache modules for Next-Generation sequencing data.Construction and use of spotted large-insert clone DNA microarrays for the detection of genomic copy number changes.Mesomelia-synostoses syndrome results from deletion of SULF1 and SLCO5A1 genes at 8q13.Knime4Bio: a set of custom nodes for the interpretation of next-generation sequencing data with KNIME.Copy number variation: new insights in genome diversity.Overlapping 3q28 amplifications in the COMA cell line and undifferentiated primary sarcoma.Large scale variation in DNA copy number in chicken breeds.Accurate and reliable high-throughput detection of copy number variation in the human genome.Role of common and rare variants in SCN10A: results from the Brugada syndrome QRS locus gene discovery collaborative study.Breaking the waves: improved detection of copy number variation from microarray-based comparative genomic hybridization.Genetic association analyses highlight biological pathways underlying mitral valve prolapse.Fine-scale human genetic structure in Western France.Array-based comparative genomic hybridisation identifies high frequency of cryptic chromosomal rearrangements in patients with syndromic autism spectrum disordersAdvanced Characterization of DNA Molecules in rAAV Vector Preparations by Single-stranded Virus Next-generation Sequencing.Copy number variation and evolution in humans and chimpanzeesABCA7 rare variants and Alzheimer disease riskDysfunction of the Voltage-Gated K+ Channel β2 Subunit in a Familial Case of Brugada Syndrome.Variants in the SCN5A Promoter Associated With Various Arrhythmia PhenotypesMutations in FAM111B cause hereditary fibrosing poikiloderma with tendon contracture, myopathy, and pulmonary fibrosis.A robust statistical method for case-control association testing with copy number variation.The role of DNA copy number variation in schizophrenia.Genetic investigations on intracranial aneurysm: update and perspectives.De Novo Disruption of the Proteasome Regulatory Subunit PSMD12 Causes a Syndromic Neurodevelopmental Disorder.De Novo Truncating Mutations in the Kinetochore-Microtubules Attachment Gene CHAMP1 Cause Syndromic Intellectual Disability.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.Genomic and expression profiling of chromosome 17 in breast cancer reveals complex patterns of alterations and novel candidate genes.
P50
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P50
description
hulumtues
@sq
onderzoeker
@nl
researcher
@en
հետազոտող
@hy
name
Richard Redon
@ast
Richard Redon
@en
Richard Redon
@es
Richard Redon
@nl
Richard Redon
@sl
type
label
Richard Redon
@ast
Richard Redon
@en
Richard Redon
@es
Richard Redon
@nl
Richard Redon
@sl
prefLabel
Richard Redon
@ast
Richard Redon
@en
Richard Redon
@es
Richard Redon
@nl
Richard Redon
@sl
P1053
F-3303-2014
P106
P1153
6603036988
P21
P31
P3829
P496
0000-0001-7751-2280