Evidence map›Paper›PMID 35215271›Full record

ArticlePharmaceuticals (Basel, Switzerland)2022

Integration of Transcriptome and Exome Genotyping Identifies Significant Variants with Autism Spectrum Disorder.

Noor B Almandil, Abdulla AlSulaiman, Sumayh A Aldakeel, Deem N Alkuroud, Halah Egal Aljofi, Safah Alzahrani, Aishah Al-Mana, Asma A Alfuraih, Majed Alabdali, Fahd A Alkhamis and 2 more

Registry-linked trialOpen access · goldAbstract read
In one paragraph

Article in Pharmaceuticals (Basel, Switzerland), 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. It is linked to trial NCT06662591 (A Multi-Center Multi-Omics Approach for Investigating Genetic and Epigenetic Mechanisms in Autism Spectrum Disorder), which is not on this map. Cited by 8 papers.

0numbers the graph read from it
0cells of the map it votes in
8citing papers in PubMed
1.3field-weighted citation impact, top 23% 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.

NCT06662591 not yet recruitingnot on this mapstarted 2025, after this paper: background citation

A Multi-Center Multi-Omics Approach for Investigating Genetic and Epigenetic Mechanisms in Autism Spectrum Disorder

Typeobservational_patient_registrySponsorResearch and Treatment Society of Genetic DisordersRan2025 to 2028Enrolled3,000ConditionsAutism Spectrum Disorder (ASD)
3 · Its place in the literature

Who cites it

8 citing papers in PubMed, 11 citations in OpenAlex.

  1. Article
  2. Sex-dependent prediction of autism.Frontiers in genetics · 2026
    Article
  3. Article
  4. Article
  5. 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

12 authors at 2 institutions in 1 country.

Noor B AlmandilDepartment of Clinical Pharmacy Research, Institute for Research and Medical Consultations (IRMC), Imam Abdulrahman Bin Faisal University, Dammam 31441, Saudi Arabia.ORCID 0000-0002-7049-3563
Abdulla AlSulaimanDepartment of Neurology, College of Medicine, Imam Abdulrahman Bin Faisal University, Dammam 31441, Saudi Arabia.ORCID 0000-0001-8753-7633
Sumayh A AldakeelDepartment of Genetic Research, Institute for Research and Medical Consultations (IRMC), Imam Abdulrahman Bin Faisal University, Dammam 31441, Saudi Arabia.ORCID 0000-0003-4750-1163
Deem N AlkuroudDepartment of Genetic Research, Institute for Research and Medical Consultations (IRMC), Imam Abdulrahman Bin Faisal University, Dammam 31441, Saudi Arabia.
Halah Egal AljofiEnvironmental Health Research Area, Institute for Research and Medical Consultations (IRMC), Imam Abdulrahman Bin Faisal University, Dammam 31441, Saudi Arabia.ORCID 0000-0001-8411-1418
Safah AlzahraniDepartment of Mental Health, College of Medicine, Imam Abdulrahman Bin Faisal University, Dammam 31441, Saudi Arabia.
Aishah Al-ManaDepartment of Mental Health, College of Medicine, Imam Abdulrahman Bin Faisal University, Dammam 31441, Saudi Arabia.
Asma A AlfuraihDepartment of Genetic Research, Institute for Research and Medical Consultations (IRMC), Imam Abdulrahman Bin Faisal University, Dammam 31441, Saudi Arabia.
Majed AlabdaliDepartment of Neurology, College of Medicine, Imam Abdulrahman Bin Faisal University, Dammam 31441, Saudi Arabia.
Fahd A AlkhamisDepartment of Neurology, College of Medicine, Imam Abdulrahman Bin Faisal University, Dammam 31441, Saudi Arabia.
Sayed AbdulAzeezDepartment of Genetic Research, Institute for Research and Medical Consultations (IRMC), Imam Abdulrahman Bin Faisal University, Dammam 31441, Saudi Arabia.ORCID 0000-0002-9763-9446
J Francis BorgioDepartment of Genetic Research, Institute for Research and Medical Consultations (IRMC), Imam Abdulrahman Bin Faisal University, Dammam 31441, Saudi Arabia.ORCID 0000-0001-7199-1540
Imam Abdulrahman Bin Faisal University · SAKing Fahd Hospital of the University · SA

Funding

Deanship of Scientific Research, Imam Abdulrahman Bin Faisal University 2016-057-IRMC and 2017-202-IRMC
6 · The paper itself

Abstract

Autism is a complex disease with genetic predisposition factors. Real factors for treatment and early diagnosis are yet to be defined. This study integrated transcriptome and exome genotyping for identifying functional variants associated with autism spectrum disorder and their impact on gene expression to find significant variations. More than 1800 patients were screened, and 70 (47 male/23 female) with an average age of 7.56 ± 3.68 years fulfilled the DSM-5 criteria for autism. Analysis revealed 682 SNPs of 589 genes significantly (

Indexed as

autism spectrum disordergene expressionneurodevelopmental disorderregulatory variantsRNA sequencingSNPs

Identifiers

PMID35215271
PMCPMC8880056
OpenAlexW4210325701

What OpenQuestion holds

Textmetadata
LicenceCC BY
Read underepoch 390

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.