Evidence map›Paper›PMID 39519104›Full record

ArticleInternational journal of molecular sciences2024

Genome Sequencing Identifies 13 Novel Candidate Risk Genes for Autism Spectrum Disorder in a Qatari Cohort.

Afif Ben-Mahmoud, Vijay Gupta, Alice Abdelaleem, Richard Thompson, Abdi Aden, Hamdi Mbarek, Chadi Saad, Mohamed Tolefat, Fouad Alshaban, Lawrence W Stanton and 1 more

Abstract read
In one paragraph

Article in International journal of molecular sciences, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 9 papers.

0numbers the graph read from it
0cells of the map it votes in
9citing 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

9 citing papers in PubMed.

  1. Article
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  3. A De NovoInternational journal of molecular sciences · 2026
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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

11 authors.

Afif Ben-MahmoudNeurological Disorder Research Center, Qatar Biomedical Research Institute (QBRI), Hamad Bin Khalifa University (HBKU), Qatar Foundation, Doha 5825, Qatar.
Vijay GuptaNeurological Disorder Research Center, Qatar Biomedical Research Institute (QBRI), Hamad Bin Khalifa University (HBKU), Qatar Foundation, Doha 5825, Qatar.
Alice AbdelaleemNeurological Disorder Research Center, Qatar Biomedical Research Institute (QBRI), Hamad Bin Khalifa University (HBKU), Qatar Foundation, Doha 5825, Qatar.
Richard ThompsonNeurological Disorder Research Center, Qatar Biomedical Research Institute (QBRI), Hamad Bin Khalifa University (HBKU), Qatar Foundation, Doha 5825, Qatar.ORCID 0000-0002-9554-550X
Abdi AdenNeurological Disorder Research Center, Qatar Biomedical Research Institute (QBRI), Hamad Bin Khalifa University (HBKU), Qatar Foundation, Doha 5825, Qatar.
Hamdi MbarekQatar Genome Program, Qatar Foundation Research, Development and Innovation, Qatar Foundation, Doha 5825, Qatar.
Chadi SaadQatar Genome Program, Qatar Foundation Research, Development and Innovation, Qatar Foundation, Doha 5825, Qatar.
Mohamed TolefatShafallah Center for Children with Disabilities, Doha 2713, Qatar.
Fouad AlshabanNeurological Disorder Research Center, Qatar Biomedical Research Institute (QBRI), Hamad Bin Khalifa University (HBKU), Qatar Foundation, Doha 5825, Qatar.ORCID 0000-0002-0529-9721
Lawrence W StantonNeurological Disorder Research Center, Qatar Biomedical Research Institute (QBRI), Hamad Bin Khalifa University (HBKU), Qatar Foundation, Doha 5825, Qatar.ORCID 0000-0002-3392-2779
Hyung-Goo KimNeurological Disorder Research Center, Qatar Biomedical Research Institute (QBRI), Hamad Bin Khalifa University (HBKU), Qatar Foundation, Doha 5825, Qatar.

Funding

Hamad bin Khalifa University NAQatar Foundation NA
6 · The paper itself

Abstract

Autism spectrum disorder (ASD) is a neurodevelopmental condition characterized by deficits in social communication, restricted interests, and repetitive behaviors. Despite considerable research efforts, the genetic complexity of ASD remains poorly understood, complicating diagnosis and treatment, especially in the Arab population, with its genetic diversity linked to migration, tribal structures, and high consanguinity. To address the scarcity of ASD genetic data in the Middle East, we conducted genome sequencing (GS) on 50 ASD subjects and their unaffected parents. Our analysis revealed 37 single-nucleotide variants from 36 candidate genes and over 200 CGG repeats in the

Indexed as

Autism Spectrum DisorderGenetic Predisposition to DiseasePolymorphism, Single NucleotideAdolescentChildChild, PreschoolCohort StudiesConsanguinityFemaleFragile X Messenger Ribonucleoprotein 1HumansMaleQatarWhole Genome SequencingFMR1 protein, humanFragile X Messenger Ribonucleoprotein 1autism spectrum disordergenome sequencingmolecular pathwaysnovel genesQatari cohort

Identifiers

PMID39519104
PMCPMC11547081

What OpenQuestion holds

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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.