Evidence map›Paper›PMID 28496995›Full record

ArticleJournal of pediatric genetics2017

Genomic Microarray in Intellectual Disability: The Usefulness of Existing Systems in the Interpretation of Copy Number Variation.

Hela Ben Khelifa, Najla Soyah, Audrey Labalme, Helene Guilbert, Damien Sanlaville, Ali Saad, Soumaya Mougou-Zerelli

Abstract read
In one paragraph

Article in Journal of pediatric genetics, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.

0numbers the graph read from it
0cells of the map it votes in
1citing papers in PubMed
–field-weighted citation impact
1 · What the graph read from it

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.

2 · The registry

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.

3 · Its place in the literature

Who cites it

1 citing paper in PubMed.

  1. Article
4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

7 authors.

Hela Ben KhelifaDepartment of Cytogenetic and Reproductive Biology, Farhat Hached University Teaching Hospital, Sousse, Tunisia.
Najla SoyahDepartment of Pediatric, Farhat Hached University Teaching Hospital, Sousse, Tunisia.
Audrey LabalmeHospices Civils de Lyon, Service de Cytogénétique Constitutionnelle, Lyon, France.
Helene GuilbertHospices Civils de Lyon, Service de Cytogénétique Constitutionnelle, Lyon, France.
Damien SanlavilleHospices Civils de Lyon, Service de Cytogénétique Constitutionnelle, Lyon, France.
Ali SaadDepartment of Cytogenetic and Reproductive Biology, Farhat Hached University Teaching Hospital, Sousse, Tunisia.
Soumaya Mougou-ZerelliDepartment of Cytogenetic and Reproductive Biology, Farhat Hached University Teaching Hospital, Sousse, Tunisia.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Whole genome array technology is an essential tool for the detection of a large number of copy number variants (CNVs) in patients with ID and/or multiple congenital anomalies. However, the clinical significance of some microimbalances is not known. In this article, we succeeded to detect seven new variations of unknown significance (dup12p13.33, dup2p16.3, dupXq13.2, del12q24.33, dup16p13.11, trip4q22.1, and dup9p21.3), one CNV classified as known pathogenic syndrome (del22q13.31-q33), and one CNV classified as potentially pathogenic (del11q24.3). We emphasize the role of comparative genomic hybridization arrays in the investigation of intellectual disability and evaluate the usefulness of existing systems in the interpretation of CNVs.

Indexed as

comparative genomic hybridization arraycopy number variantsintellectual disabilityqPCR

Identifiers

PMID28496995
PMCPMC5423794

What OpenQuestion holds

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Registered trials

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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.