The impact of human copy number variation on a new era of genetic testing

No abstract is available for this paper.

• Publication year

  2010

• Venue

  BJOG: an International Journal of Obstetrics and Gynaecology

• Publication date

  2010-03-01

• Fields of study

  Biology, Medicine

• Identifiers
  DOI 10.1111/j.1471-0528.2009.02470.xPMID 20105165
• External record

  Open on Semantic Scholar

• Source metadata

  Semantic Scholar, PubMed

• No claims are published for this paper.

• No concepts are published for this paper.

• Clinical Utility of Array CGH for the Detection of Chromosomal Imbalances Associated with Mental Retardation and Multiple Congenital Anomalies

  2009cited by this paper
• Clinical use of array comparative genomic hybridization (aCGH) for prenatal diagnosis in 300 cases

  2009cited by this paper
• De novo 16p13.11 microdeletion identified by high‐resolution array CGH in a fetus with increased nuchal translucency

  2009cited by this paper
• Mechanisms of change in gene copy number

  2009cited by this paper
• Copy number variants, diseases and gene expression.

  2009cited by this paper
• A Microhomology-Mediated Break-Induced Replication Model for the Origin of Human Copy Number Variation

  2009cited by this paper
• Copy number variation at 1q21.1 associated with neuroblastoma

  2009cited by this paper
• Comparison of microarray‐based detection rates for cytogenetic abnormalities in prenatal and neonatal specimens

  2008cited by this paper
• Detection of germline and somatic copy number variations in cattle.

  2008cited by this paper
• Systematic assessment of copy number variant detection via genome-wide SNP genotyping

  2008cited by this paper
• Deletion polymorphism of the UGT2B17 gene is associated with increased risk for prostate cancer and correlated to gene expression in the prostate

  2008cited by this paper
• Psoriasis is associated with increased beta-defensin genomic copy number.

  2008cited by this paper
• Large recurrent microdeletions associated with schizophrenia

  2008cited by this paper
• THE APPLICATION OF MICROARRAY BASED COMPARATIVE GENOMIC HYBRIDIZATION IN PRENATAL DIAGNOSIS

  2008cited by this paper
• Autosomal-dominant microtia linked to five tandem copies of a copy-number-variable region at chromosome 4p16.

  2008cited by this paper
• Rare chromosomal deletions and duplications increase risk of schizophrenia

  2008cited by this paper
• Integrated detection and population-genetic analysis of SNPs and copy number variation

  2008cited by this paper
• The fine-scale and complex architecture of human copy-number variation.

  2008cited by this paper
• Somatic mosaicism for copy number variation in differentiated human tissues

  2008cited by this paper
• Rapid prenatal diagnosis using uncultured amniocytes and oligonucleotide array CGH

  2008cited by this paper
• Phenotypically concordant and discordant monozygotic twins display different DNA copy-number-variation profiles.

  2008cited by this paper
• Strong Association of De Novo Copy Number Mutations with Autism

  2007cited by this paper
• Relative Impact of Nucleotide and Copy Number Variation on Gene Expression Phenotypes

  2007cited by this paper
• Challenges and standards in integrating surveys of structural variation

  2007cited by this paper
• Increase in GSK3β gene copy number variation in bipolar disorder

  2007cited by this paper
• Diagnosing idiopathic learning disability: a cost-effectiveness analysis of microarray technology in the National Health Service of the United Kingdom

  2007cited by this paper
• CCL3L1 gene-containing segmental duplications and polymorphisms in CCR5 affect risk of systemic lupus erythaematosus

  2007cited by this paper
• Cryptic deletions are a common finding in “balanced” reciprocal and complex chromosome rearrangements: a study of 59 patients

  2007cited by this paper
• Copy number variant in the candidate tumor suppressor gene MTUS1 and familial breast cancer risk.

  2007cited by this paper
• Copy-number variation and association studies of human disease

  2007cited by this paper
• A DNA replication mechanism for generating nonrecurrent rearrangements associated with genomic disorders.

  2007cited by this paper
• Copy-number variation in control population cohorts.

  2007cited by this paper
• Detection of a de novo interstitial 2q microdeletion by CGH microarray analysis in a patient with limb malformations, microcephaly and mental retardation

  2007cited by this paper
• Clinical Implementation of Chromosomal Microarray Analysis: Summary of 2513 Postnatal Cases

  2007cited by this paper
• Major changes in our DNA lead to major changes in our thinking

  2007cited by this paper
• Copy number variations and clinical cytogenetic diagnosis of constitutional disorders

  2007cited by this paper
• Multigene deletions on chromosome 20q13.13‐q13.2 including SALL4 result in an expanded phenotype of Okihiro syndrome plus developmental delay

  2007cited by this paper
• The UGT2B17 gene deletion polymorphism and risk of prostate cancer. A case-control study in Caucasians.

  2007cited by this paper
• Gene copy-number variation and associated polymorphisms of complement component C4 in human systemic lupus erythematosus (SLE): low copy number is a risk factor for and high copy number is a protective factor against SLE susceptibility in European Americans.

  2007cited by this paper
• Germ-line DNA copy number variation frequencies in a large North American population

  2007cited by this paper
• FCGR3B copy number variation is associated with susceptibility to systemic, but not organ-specific, autoimmunity

  2007cited by this paper
• Copy number polymorphism in Fcgr3 predisposes to glomerulonephritis in rats and humans

  2006cited by this paper
• Genomic rearrangements and gene copy-number alterations as a cause of nervous system disorders.

  2006cited by this paper
• Structural variants: changing the landscape of chromosomes and design of disease studies.

  2006cited by this paper
• Copy number variation: new insights in genome diversity.

  2006cited by this paper
• A chromosome 8 gene-cluster polymorphism with low human beta-defensin 2 gene copy number predisposes to Crohn disease of the colon.

  2006cited by this paper
• Common deletion polymorphisms in the human genome

  2006cited by this paper
• Prenatal diagnosis of chromosomal abnormalities using array-based comparative genomic hybridization

  2006cited by this paper
• A high-resolution survey of deletion polymorphism in the human genome

  2006cited by this paper
• Deletion Polymorphism of UDP-Glucuronosyltransferase 2B17 and Risk of Prostate Cancer in African American and Caucasian Men

  2006cited by this paper
• Global variation in copy number in the human genome

  2006cited by this paper
• Prenatal detection of unbalanced chromosomal rearrangements by array CGH

  2005cited by this paper
• The Influence of CCL3L1 Gene-Containing Segmental Duplications on HIV-1/AIDS Susceptibility

  2005cited by this paper
• Fine-scale structural variation of the human genome

  2005cited by this paper
• Use of targeted array‐based CGH for the clinical diagnosis of chromosomal imbalance: Is less more?

  2005cited by this paper
• Duplication of the MECP2 region is a frequent cause of severe mental retardation and progressive neurological symptoms in males.

  2005cited by this paper
• Evolution of prenatal genetics: from point mutation testing to chromosomal microarray analysis

  2005cited by this paper
• α-synuclein locus duplication as a cause of familial Parkinson's disease

  2004cited by this paper
• Large-Scale Copy Number Polymorphism in the Human Genome

  2004cited by this paper
• Detection of large-scale variation in the human genome

  2004cited by this paper
• Implications of human genome architecture for rearrangement-based disorders: the genomic basis of disease.

  2004cited by this paper
• Causal relation between alpha-synuclein gene duplication and familial Parkinson's disease.

  2004cited by this paper
• Alpha-synuclein locus duplication as a cause of familial Parkinson's disease.

  2004cited by this paper
• Causal relation between α-synuclein locus duplication as a cause of familial Parkinson's disease

  2004cited by this paper
• alpha-Synuclein locus triplication causes Parkinson's disease.

  2003cited by this paper
• Molecular Mechanisms, Diagnosis, and Rational Approaches to Management of and Therapy for Charcot-Marie-Tooth Disease and Related Peripheral Neuropathies

  2003cited by this paper
• α-Synuclein Locus Triplication Causes Parkinson's Disease

  2003cited by this paper
• Rapid and simple prenatal diagnosis of common chromosome disorders: advantages and disadvantages of the molecular methods FISH and QF-PCR.

  2003cited by this paper
• Prenatal diagnosis using interphase fluorescence in situ hybridization (FISH): 2‐year multi‐center retrospective study and review of the literature

  2001cited by this paper
• Molecular mechanisms for constitutional chromosomal rearrangements in humans.

  2000cited by this paper
• Subtle chromosomal rearrangements in children with unexplained mental retardation.

  1999cited by this paper
• Subtle chromosomal rearrangements in children with unexplained mental retardation

  1999cited by this paper
• International, collaborative assessment of 146,000 prenatal karyotypes: expected limitations if only chromosome-specific probes and fluorescent in-situ hybridization are used.

  1999cited by this paper
• Matrix‐based comparative genomic hybridization: Biochips to screen for genomic imbalances

  1997cited by this paper
• Comparative genomic hybridization.

  1996cited by this paper

• Clinical Potential of Copy Number Aberration as a Diagnostic and Prognostic Biomarker in Lymphoma

  2025cites this paper
• Copy Number Variations in Pancreatic Cancer: From Biological Significance to Clinical Utility

  2023cites this paper
• Impact of genetic structural variants in FXI deficiency: identification, accurate characterization and inferred mechanism by long-read sequencing.

  2023cites this paper
• Copy Number Variation of Circulating Tumor DNA (ctDNA) Detected Using NIPT in Neoadjuvant Chemotherapy-Treated Ovarian Cancer Patients

  2022cites this paper
• Cell Adhesion Molecules Involved in Neurodevelopmental Pathways Implicated in 3p-Deletion Syndrome and Autism Spectrum Disorder

  2021cites this paper
• The role of chromosomal microarray and exome sequencing in prenatal diagnosis

  2021cites this paper
• Array-based Comparative Genomic Hybridization (aCGH) Reveals Chromosomal Aberrations in Chronic Obstructive Pulmonary Disease (COPD): A Preliminary Study

  2021cites this paper
• Lessons Learned from CNV Analysis of Major Birth Defects

  2020cites this paper
• Role of genetic variability in Mendelian and multifactorial diseases.

  2020cites this paper
• Papel de la variabilidad genética en las enfermedades mendelianas y multifactoriales.

  2019cites this paper
• An Integrated Approach to Plant Biology via Multi-Analogous Methods

  2019cites this paper
• Analysis of the pattern and trend of human genomic variations in the form of single nucleotide polymorphisms (SNPs) and small insertions and deletions (INDELs)

  2019cites this paper
• Copy Number Variation Mapping and Genomic Variation of Autochthonous and Commercial Turkey Populations

  2019cites this paper
• BACs-on-Beads™ assay, a rapid aneuploidy test, improves the diagnostic yield of conventional karyotyping

  2019cites this paper
• Utility and performance of bacterial artificial chromosomes‐on‐beads assays in chromosome analysis of clinical prenatal samples, products of conception and blood samples

  2019cites this paper
• Copy‐Number Variants Detection by Low‐Pass Whole‐Genome Sequencing

  2017cites this paper
• BIRC5 Genomic Copy Number Variation in Early-Onset Breast Cancer

  2016influential citation
• Characterisation of glyoxalase 1 mutant mouse and glyoxalase 1 copy number alteration

  2016cites this paper
• Histological characteristics and gene expression profiling of Dupuytren’s disease

  2016cites this paper
• A copy number variation map of the human genome

  2015cites this paper
• CNVs Associated with Susceptibility to Cancers: A Mini-Review

  2015cites this paper
• Genetics of Autism Spectrum Disorders: The Opportunity and Challenge in the Genetics Clinic

  2015cites this paper
• Genetics of Chiari Malformation and Syringomyelia

  2014cites this paper
• A Single-Array-Based Method for Detecting Copy Number Variants Using Affymetrix High Density SNP Arrays and its Application to Breast Cancer

  2014cites this paper
• Characterization of structural variants with single molecule and hybrid sequencing approaches

  2014cites this paper
• Genetic diagnosis of autism spectrum disorders: The opportunity and challenge in the genomics era

  2014cites this paper
• BACs-on-beads: a new robust and rapid detection method for prenatal diagnosis

  2014cites this paper
• Large germline copy number variations as predisposing factor in childhood neoplasms.

  2014cites this paper
• Copy number variation of glyoxalase I.

  2014cites this paper
• Diagnostic accuracy of the BACs‐on‐Beads™ assay versus karyotyping for prenatal detection of chromosomal abnormalities: a retrospective consecutive case series

  2014cites this paper
• FISHIS: A New Way in Chromosome Flow Sorting Makes Complex Genomes More Accessible

  2014cites this paper
• Susceptibility for Lupus Nephritis by Low Copy Number of the FCGR3B Gene Is Linked to Increased Levels of Pathogenic Autoantibodies

  2013cites this paper
• Microarrays as a diagnostic tool in prenatal screening strategies: ethical reflection

  2013cites this paper
• The utility of copy number variation (CNV) in studies of hypertension-related left ventricular hypertrophy (LVH): rationale, potential and challenges

  2013cites this paper
• SNP-array analyse som nytt verktøy ved syndromutredning

  2013cites this paper
• Key issues in essential tremor genetics research: Where are we now and how can we move forward?

  2013cites this paper
• Mutations in MAPT Gene Cause Chromosome Instability and Introduce Copy Number Variations Widely in the Genome

  2013cites this paper
• Exploring Genetic Susceptibility to Autism Spectrum Disorders

  2013cites this paper
• Organización estructural y funcional del genoma humano: variación en el número de copias predisponentes de enfermedades degenerativas

  2013cites this paper
• Copy number variations (CNVs) in human pluripotent cell-derived neuroprogenitors.

  2012cites this paper
• Sonogenetics in fetal neurology.

  2012cites this paper
• The scope of prenatal diagnosis for women at increased risk for aneuploidies: views and preferences of professionals and potential users

  2012cites this paper
• Use of the MLPA Assay in the Molecular Diagnosis of Gene Copy Number Alterations in Human Genetic Diseases

  2012cites this paper
• Single nucleotide polymorphism microarray analysis in cortisol-secreting adrenocortical adenomas identifies new candidate genes and pathways.

  2012cites this paper
• Common copy number variations in fifty radiosensitive cell lines.

  2012cites this paper
• Sonogenetics: A Breakthrough in Prenatal Diagnosis

  2011cites this paper
• Title Detection of recurrent rearrangement breakpoints from copy number data Permalink

  2011cites this paper
• Glyoxalase in ageing.

  2011cites this paper
• Evolving applications of microarray analysis in prenatal diagnosis

  2011cites this paper
• Identification of submicroscopic chromosomal aberrations in fetuses with increased nuchal translucency and apparently normal karyotype

  2011cites this paper
• Copy-number changes in prenatal diagnosis

  2011cites this paper
• Detection of recurrent rearrangement breakpoints from copy number data

  2011cites this paper
• Molecular cytogenetic evidence for multistep tumorigenesis: Implications for risk assessment and early detection

  2011cites this paper
• Characterisation of glyoxalase I in a streptozocin-induced mouse model of diabetes with painful and insensate neuropathy

  2011cites this paper
• Rapid and novel prenatal molecular assay for detecting aneuploidies and microdeletion syndromes

  2011cites this paper
• Genome-wide analysis shows increased frequency of copy number variation deletions in Dutch schizophrenia patients.

  2011cites this paper
• Data-driven approach to detect common copy-number variations and frequency profiles in a population-based Korean cohort

  2011cites this paper
• Classification of pathogenic or benign status of CNVs detected by microarray analysis

  2010cites this paper
• The return of individual research findings in paediatric genetic research

  2010cites this paper
• Copy number variation in the porcine genome inferred from a 60 k SNP BeadChip

  2010cites this paper