ArticleBMC genomics2015
A modified multiplex ligation-dependent probe amplification method for the detection of 22q11.2 copy number variations in patients with congenital heart disease.
Article in BMC genomics, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 27 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
27 citing papers in PubMed, 59 citations in OpenAlex.
- A 3 base pair deletion in TBX1 leads to reduced protein expression and transcriptional activity.Scientific reports · 2017Trial
- A comparative study of SNPscan/CNVplex assay and routine PCR in genetic analysis of thalassemia.Frontiers in genetics · 2026Article
- Genetic impact of copy number variations on congenital heart defects: Current insights and future directions.Global medical genetics · 2025Review
- Novel rapid molecular diagnosis methods for comprehensive genetic analysis of 21-hydroxylase deficiency.Orphanet journal of rare diseases · 2024Article
- Whole-genome de novo sequencing reveals genomic variants associated with differences of sex development in SRY negative pigs.Biology of sex differences · 2024Article
- Copy number deletion of PLA2G4A affects the susceptibility and clinical phenotypes of schizophrenia.Schizophrenia (Heidelberg, Germany) · 2024Article
- Fibrinogen BOE II: dysfibrinogenemia with bleeding and defective thrombin binding.Research and practice in thrombosis and haemostasis · 2023Article
- PHDs-seq: a large-scale phenotypic screening method for drug discovery through parallel multi-readout quantification.Cell regeneration (London, England) · 2023Article
- Identification of Two Novel Variants of thePharmacogenomics and personalized medicine · 2023Article
- HER2 copy number quantification in primary tumor and cell-free DNA provides additional prognostic information in HER2 positive early breast cancer.Breast (Edinburgh, Scotland) · 2022Article
- Comprehensive copy number analysis of Y chromosome-linked loci for detection of structural variations and diagnosis of male infertility.Journal of human genetics · 2022Article
- Cytogenomics Investigation of Infants with Congenital Heart Disease: Experience of a Brazilian Center.Arquivos brasileiros de cardiologia · 2022Article
- Down-regulation of MYH10 driven by chromosome 17p13.1 deletion promotes hepatocellular carcinoma metastasis through activation of the EGFR pathway.Journal of cellular and molecular medicine · 2021Article
- An atlas of CNV maps in cattle, goat and sheep.Science China. Life sciences · 2021Article
- Genomic gain ofScience advances · 2021Article
- Variants in a cis-regulatory element of TBX1 in conotruncal heart defect patients impair GATA6-mediated transactivation.Orphanet journal of rare diseases · 2021Article
- Mutations in fibroblast growth factor (FGF8) and FGF10 identified in patients with conotruncal defects.Journal of translational medicine · 2020Article
- MESP2 variants contribute to conotruncal heart defects by inhibiting cardiac neural crest cell proliferation.Journal of molecular medicine (Berlin, Germany) · 2020Article
- Rare copy number variations of planar cell polarity genes are associated with human neural tube defects.Neurogenetics · 2020Article
- Identification of a complex genomic rearrangement in TMPRSS3 by massively parallel sequencing in Chinese cases with prelingual hearing loss.Molecular genetics & genomic medicine · 2019Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
8 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundCopy number variations (CNVs) of chromosomal region 22q11.2 are associated with a subset of patients with congenital heart disease (CHD). Accurate and efficient detection of CNV is important for genetic analysis of CHD. The aim of the study was to introduce a novel approach named CNVplex®, a high-throughput analysis technique designed for efficient detection of chromosomal CNVs, and to explore the prevalence of sub-chromosomal imbalances in 22q11.2 loci in patients with CHD from a single institute.
resultsWe developed a novel technique, CNVplex®, for high-throughput detection of sub-chromosomal copy number aberrations. Modified from the multiplex ligation-dependent probe amplification (MLPA) method, it introduced a lengthening ligation system and four universal primer sets, which simplified the synthesis of probes and significantly improved the flexibility of the experiment. We used 110 samples, which were extensively characterized with chromosomal microarray analysis and MLPA, to validate the performance of the newly developed method. Furthermore, CNVplex® was used to screen for sub-chromosomal imbalances in 22q11.2 loci in 818 CHD patients consecutively enrolled from Shanghai Children's Medical Center. In the methodology development phase, CNVplex® detected all copy number aberrations that were previously identified with both chromosomal microarray analysis and MLPA, demonstrating 100% sensitivity and specificity. In the validation phase, 22q11.2 deletion and 22q11.2 duplication were detected in 39 and 1 of 818 patients with CHD by CNVplex®, respectively. Our data demonstrated that the frequency of 22q11.2 deletion varied among sub-groups of CHD patients. Notably, 22q11.2 deletion was more commonly observed in cases with conotruncal defect (CTD) than in cases with non-CTD (P<0.001). With higher resolution and more probes against selected chromosomal loci, CNVplex® also identified several individuals with small CNVs and alterations in other chromosomes.
conclusionsCNVplex® is sensitive and specific in its detection of CNVs, and it is an alternative to MLPA for batch screening of pathogenetic CNVs in known genomic loci.
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.