Evidence map›Paper›PMID 33076578›Full record

ArticleGenes2020

Genetic Risk of Autism Spectrum Disorder in a Pakistani Population.

Madiha Khalid, Hashim Raza, Terri M Driessen, Paul J Lee, Leon Tejwani, Abdul Sami, Muhammad Nawaz, Shahid Mehmood Baig, Janghoo Lim, Ghazala Kaukab Raja

Open access · goldAbstract read
In one paragraph

Article in Genes, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 9 papers, 1 of them a synthesis that pooled it.

0numbers the graph read from it
0cells of the map it votes in
9citing papers in PubMed, 1 pooled it
1.8field-weighted citation impact, top 15% 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

9 citing papers in PubMed, 1 synthesis or guideline pooled it, 32 citations in OpenAlex.

  1. Pooled it
  2. Locus-Specific Genetic Associations at theAdvanced genetics (Hoboken, N.J.) · 2026
    Article
  3. Article
  4. Review
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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 6 institutions in 3 countries.

Madiha KhalidDepartment of Biochemistry, University Institute of Biochemistry and Biotechnology, PMAS Arid Agriculture University, Rawalpindi 46000, Pakistan.
Hashim RazaPakistan Institute of Medical Sciences, Islamabad 44000, Pakistan.
Terri M DriessenDepartment of Genetics, Yale School of Medicine, New Haven, CT 06510, USA.
Paul J LeeInterdepartmental Neuroscience Program, Yale School of Medicine, New Haven, CT 06510, USA.
Leon TejwaniInterdepartmental Neuroscience Program, Yale School of Medicine, New Haven, CT 06510, USA.
Abdul SamiDepartment of Biochemistry, University Institute of Biochemistry and Biotechnology, PMAS Arid Agriculture University, Rawalpindi 46000, Pakistan.
Muhammad NawazDepartment of Rheumatology and Inflammation Research, Institute of Medicine, Sahlgrenska Academy, University of Gothenburg, 41346 Gothenburg, Sweden.ORCID 0000-0002-0792-8296
Shahid Mehmood BaigHuman Molecular Genetics Laboratory, Health Biotechnology Division, National Institute for Biotechnology and Genetic Engineering (NIBGE), Faisalabad 38000, Pakistan.
Janghoo LimDepartment of Genetics, Yale School of Medicine, New Haven, CT 06510, USA.
Ghazala Kaukab RajaDepartment of Biochemistry, University Institute of Biochemistry and Biotechnology, PMAS Arid Agriculture University, Rawalpindi 46000, Pakistan.ORCID 0000-0002-8362-7137
Pir Mehr Ali Shah Arid Agriculture University · PKYale University · USNational Institute for Biotechnology and Genetic Engineering · PKPakistan Institute of Medical Sciences · PKUniversity of Gothenburg · SEYale Cancer Center · US

Funding

Cellular and Molecular Studies of SBMA Neuromuscular DiseaseR01NS088321 · NINDS · YALE UNIVERSITY · PI LIM, JANGHOO · 2015 to 2019
$2.2M
Investigating the Pathogenesis of Cerebellar NeurodegenerationR01NS083706 · NINDS · YALE UNIVERSITY · PI LIM, JANGHOO · 2014 to 2018
$1.8M
Regulation of inhibitory interneuron developmentR21MH119803 · NIMH · YALE UNIVERSITY · PI LIM, JANGHOO · 2019 to 2020
$461k
NIMH NIH HHS R21 MH119803NINDS NIH HHS R01 NS083706NINDS NIH HHS R01 NS088321
6 · The paper itself

Abstract

Autism spectrum disorder (ASD) is a group of complex multifactorial neurodevelopmental and neuropsychiatric disorders in children characterized by impairment of communication and social interaction. Several genes with associated single nucleotide polymorphisms (SNPs) have been identified for ASD in different genetic association studies, meta-analyses, and genome-wide association studies (GWAS). However, associations between different SNPs and ASD vary from population to population. Four SNPs in genes

Indexed as

Genetic Predisposition to DiseasePolymorphism, Single NucleotideAdultAutistic DisorderBiomarkersCase-Control StudiesChildEthnicityFemaleGene FrequencyHumansMalePakistanRisk FactorsBiomarkersATP2B2autism spectrum disorderCNTNAP2genetic associationgenotypingsingle nucleotide polymorphism

Identifiers

PMID33076578
PMCPMC7602870
OpenAlexW3093030423

What Socratic 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 Socratic graph.