Evidence map›Paper›PMID 31744938›Full record

ReviewAging2019

Association of genes with phenotype in autism spectrum disorder.

Sabah Nisar, Sheema Hashem, Ajaz A Bhat, Najeeb Syed, Santosh Yadav, Muhammad Waqar Azeem, Shahab Uddin, Puneet Bagga, Ravinder Reddy, Mohammad Haris

Open access · greenAbstract readReview
In one paragraph

Review in Aging, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 14 papers.

0numbers the graph read from it
0cells of the map it votes in
14citing papers in PubMed
2.2field-weighted citation impact, top 12% 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

14 citing papers in PubMed, 35 citations in OpenAlex.

  1. Review
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  8. Autism and duplication of 17q12q21.2 by array-CGH: a case report.Revista paulista de pediatria : orgao oficial da Sociedade de Pediatria de Sao Paulo · 2023
    Article
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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

10 authors at 4 institutions in 2 countries.

Sabah NisarResearch Branch, Sidra Medicine, Doha, Qatar.
Sheema HashemResearch Branch, Sidra Medicine, Doha, Qatar.
Ajaz A BhatResearch Branch, Sidra Medicine, Doha, Qatar.
Najeeb SyedResearch Branch, Sidra Medicine, Doha, Qatar.
Santosh YadavResearch Branch, Sidra Medicine, Doha, Qatar.
Muhammad Waqar AzeemDepartment of Psychiatry, Sidra Medicine, Doha, Qatar.
Shahab UddinTranslational Research Institute, Hamad Medical Corporation, Doha, Qatar.
Puneet BaggaCenter for Magnetic Resonance and Optical Imaging, Department of Radiology, Perelman School of Medicine at The University of Pennsylvania, Philadelphia, PA 19104, USA.
Ravinder ReddyCenter for Magnetic Resonance and Optical Imaging, Department of Radiology, Perelman School of Medicine at The University of Pennsylvania, Philadelphia, PA 19104, USA.
Mohammad HarisResearch Branch, Sidra Medicine, Doha, Qatar.
University of Pennsylvania · USHamad Medical Corporation · QAQatar Airways (Qatar) · QAWeill Cornell Medical College in Qatar · QA

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Autism spectrum disorder (ASD) is a genetic heterogeneous neurodevelopmental disorder that is characterized by impairments in social interaction and speech development and is accompanied by stereotypical behaviors such as body rocking, hand flapping, spinning objects, sniffing and restricted behaviors. The considerable significance of the genetics associated with autism has led to the identification of many risk genes for ASD used for the probing of ASD specificity and shared cognitive features over the past few decades. Identification of ASD risk genes helps to unravel various genetic variants and signaling pathways which are involved in ASD. This review highlights the role of ASD risk genes in gene transcription and translation regulation processes, as well as neuronal activity modulation, synaptic plasticity, disrupted key biological signaling pathways, and the novel candidate genes that play a significant role in the pathophysiology of ASD. The current emphasis on autism spectrum disorders has generated new opportunities in the field of neuroscience, and further advancements in the identification of different biomarkers, risk genes, and genetic pathways can help in the early diagnosis and development of new clinical and pharmacological treatments for ASD.

Indexed as

Autism Spectrum DisorderChildFemaleGenetic Association StudiesGenetic Predisposition to DiseaseHumansMalePhenotypegenetic variantsgene transcriptionneuronal activitysignaling pathwayssynaptic plasticity

Identifiers

PMID31744938
PMCPMC6914398
OpenAlexW2990424445

What OpenQuestion holds

Textmetadata
LicenceCC BY
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.