ReviewHigh-throughput2018
The Cytoscan HD Array in the Diagnosis of Neurodevelopmental Disorders.
Review in High-throughput, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 15 papers.
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
15 citing papers in PubMed.
- Article
- Changes in sequencing technology used for preimplantation genetic testing for aneuploidy.Journal of assisted reproduction and genetics · 2025Review
- Molecular characterization of imprinting disorders: Beckwith-Wiedemann, Silver-Russell, and Prader-Willi syndromes in Egyptian patients.BMC pediatrics · 2025Article
- Article
- Novel maternal duplication of 6p22.3-p25.3 with subtelomeric 6p25.3 deletion: new clinical findings and genotype-phenotype correlations.Molecular cytogenetics · 2023Article
- Copy number variants from 4800 exomes contribute to ~7% of genetic diagnoses in movement disorders, muscle disorders and neuropathies.European journal of human genetics : EJHG · 2023Article
- An overview of remote monitoring methods in biodiversity conservation.Environmental science and pollution research international · 2022Review
- Syndromes predisposing to leukemia are a major cause of inherited cytopenias in children.Haematologica · 2022Article
- Copy number variations across the blood-brain barrier in multiple sclerosis.Annals of clinical and translational neurology · 2022Article
- Translational Study of Copy Number Variations in Schizophrenia.International journal of molecular sciences · 2021Article
- A Comparison of Tools for Copy-Number Variation Detection in Germline Whole Exome and Whole Genome Sequencing Data.Cancers · 2021Article
- Involvement of Rare Mutations of SCN9A, DPP4, ABCA13, and SYT14 in Schizophrenia and Bipolar Disorder.International journal of molecular sciences · 2021Article
- Identification of a Rare Novel KMT2C Mutation That Presents with Schizophrenia in a Multiplex Family.Journal of personalized medicine · 2021Article
- Detection of Copy Number Variants by Short Multiply Aggregated Sequence Homologies.The Journal of molecular diagnostics : JMD · 2020Article
- Cancer Cytogenetics: Deep Roots, New Branches in the Age of Omics.Cancer genomics & proteomicsReview
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
5 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Submicroscopic chromosomal copy number variations (CNVs), such as deletions and duplications, account for about 15⁻20% of patients affected with developmental delay, intellectual disability, multiple congenital anomalies, and autism spectrum disorder. Most of CNVs are de novo or inherited rearrangements with clinical relevance, but there are also rare inherited imbalances with unknown significance that make difficult the clinical management and genetic counselling. Chromosomal microarrays analysis (CMA) are recognized as the first-line test for CNV detection and are now routinely used in the clinical diagnostic laboratory. The recent use of CMA platforms that combine classic copy number analysis with single-nucleotide polymorphism (SNP) genotyping has increased the diagnostic yields. Here we discuss the application of the Cytoscan high-density (HD) SNP-array for the detection of CNVs. We provide an overview of molecular analyses involved in identifying pathogenic CNVs and highlight important guidelines to establish pathogenicity of CNV.
Indexed as
Identifiers
What OpenQuestion holds
Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.