Evidence map›Paper›PMID 30800049›Full record

ArticleMolecular syndromology2019

Pratibha Nair, Maher Lama, Stephany El-Hayek, Gretta Abou Sleymane, Samantha Stora, Marc Obeid, Mahmoud T Al-Ali, Valérie Delague, André Mégarbané

Open access · bronzeAbstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Molecular syndromology, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 8 papers.

0numbers the graph read from it
0cells of the map it votes in
8citing papers in PubMed
0.6field-weighted citation impact, top 33% 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

8 citing papers in PubMed, 14 citations in OpenAlex.

  1. Epilepsy due to aJournal of child neurology · 2026
    Article
  2. Understanding coenzyme Q.Physiological reviews · 2024
    Review
  3. Primary Coenzyme Q10 Deficiency: An Update.Antioxidants (Basel, Switzerland) · 2023
    Review
  4. Biosynthesis, Deficiency, and Supplementation of Coenzyme Q.Antioxidants (Basel, Switzerland) · 2023
    Review
  5. Article
  6. Metabolites · 2022
    Review
  7. Article
  8. 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

9 authors at 4 institutions in 3 countries.

Pratibha NairCentre for Arab Genomic Studies, Dubai, United Arab Emirates.
Maher LamaPediatric Department El-Rassoul Hospital, Beirut, Lebanon.
Stephany El-HayekCentre for Arab Genomic Studies, Dubai, United Arab Emirates.
Gretta Abou SleymaneDepartment of Laboratory Science and Technology, American University of Science and Technology, Beirut, Lebanon.
Samantha StoraInstitut Jérôme Lejeune, CRB BioJeL, Paris.
Marc ObeidDepartment of Laboratory Science and Technology, American University of Science and Technology, Beirut, Lebanon.
Mahmoud T Al-AliCentre for Arab Genomic Studies, Dubai, United Arab Emirates.
Valérie DelagueAix Marseille Univ., Inserm, MMG, U 1251, Marseille, France.
André MégarbanéInstitut Jérôme Lejeune, CRB BioJeL, Paris.
Centre for Arab Genomic Studies · AEAmerican University of Science and Technology · LBFondation Jérôme-Lejeune · FRInserm · FR

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

We report on a girl, born to first-cousin Lebanese parents, with severe intellectual disability, congenital hip luxation, cardiac malformation, short stature, facial dysmorphic features including microcephaly, sparse hair, bilateral epicanthal folds, ataxia, seizures, and elevated lactate and pyruvate levels in serum. Whole exome sequencing was carried out on the patient's DNA. Potentially causal homozygous variants in the

Indexed as

Cerebellar ataxiaDysmorphologyWhole exome sequencing

Identifiers

PMID30800049
PMCPMC6381915
OpenAlexW2899941583

What Socratic holds

Textmetadata
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 Socratic graph.