Evidence map›Paper›PMID 28588858›Full record

ArticleClinical case reports2017

A chromosomal microdeletion of 15q in a female patient with epilepsy, ID, and autism spectrum disorder: a case report.

Dina F Ahram, Yasser Al-Sarraj, Rowaida Z Taha, Saba F Elhag, Fouad A Al-Shaban, Hatem El-Shanti, Marios Kambouris

Open access · goldAbstract readCase Reports
In one paragraph

Article in Clinical case reports, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 4 papers.

0numbers the graph read from it
0cells of the map it votes in
4citing papers in PubMed
1.3field-weighted citation impact, top 17% of its field
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

4 citing papers in PubMed, 9 citations in OpenAlex.

  1. Article
  2. Review
  3. Article
  4. Identification of an IdenticalFrontiers in pharmacology · 2020
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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 at 4 institutions in 3 countries.

Dina F AhramDivision of Nephrology College of Physicians and Surgeons Columbia University New York City New York.ORCID 0000-0003-4617-3938
Yasser Al-SarrajMedical Genetics Center Qatar Biomedical Research Institute Hamad Bin Khalifa University Doha Qatar.
Rowaida Z TahaMedical Genetics Center Qatar Biomedical Research Institute Hamad Bin Khalifa University Doha Qatar.
Saba F ElhagMedical Genetics Center Qatar Biomedical Research Institute Hamad Bin Khalifa University Doha Qatar.
Fouad A Al-ShabanMedical Genetics Center Qatar Biomedical Research Institute Hamad Bin Khalifa University Doha Qatar.
Hatem El-ShantiPediatrics University of Jordan Amman Jordan.
Marios KambourisPathology-Genetics Sidra Medical and Research Center Doha Qatar.
Hamad bin Khalifa University · QAColumbia University · USUniversity of Jordan · JOYale University · US

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

15q deletions have been described in association with intellectual disability and autism spectrum disorder (ASD). Previous reports have supported the role of 15q24 low copy repeats (LCRs) in mediating alternatively sized genomic rearrangements. Based on our reported finding of a 15q24 deletion coinciding with two LCR regions in a patient with epilepsy and ASD, we recommend that patients with 15q24 deletions be evaluated for ASD for early institution of therapy.

Indexed as

Autismclinical geneticscopy number variationepilepsyintellectual disability

Identifiers

PMID28588858
PMCPMC5457985
OpenAlexW2613022106

What OpenQuestion holds

Textmetadata
LicenceCC BY-NC-ND
Read underepoch 390

Registered trials

None linked

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.