Evidence map›Paper›PMID 32878022›Full record

ArticleGenes2020

Two Cases of Recessive Intellectual Disability Caused by

Amjad Khan, Zhichao Miao, Muhammad Umair, Amir Ullah, Mohammad A Alshabeeb, Muhammad Bilal, Farooq Ahmad, Gudrun A Rappold, Muhammad Ansar, Raphael Carapito

Open access · goldAbstract readCase Reports
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 10 papers.

0numbers the graph read from it
0cells of the map it votes in
10citing papers in PubMed
1.4field-weighted citation impact, top 17% 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

10 citing papers in PubMed, 17 citations in OpenAlex.

  1. Article
  2. Article
  3. Article
  4. Review
  5. Article
  6. Identification of a novelFrontiers in pediatrics · 2024
    Article
  7. Article
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  9. Frontiers in molecular neuroscience · 2022
    Article
  10. Case report: A novelFrontiers in genetics · 2022
    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

10 authors at 6 institutions in 6 countries.

Amjad KhanLaboratoire d'ImmunoRhumatologie Moléculaire, Plateforme GENOMAX, INSERM UMR_S 1109, Faculté de Médecine, Fédération Hospitalo-Universitaire OMICARE, Fédération de Médecine Translationnelle de Strasbourg (FMTS), LabEx TRANSPLANTEX, Université de Strasbourg, 67085 Strasbourg, France.ORCID 0000-0002-4149-9544
Zhichao MiaoEuropean Molecular Biology Laboratory, European Bioinformatics Institute (EMBL-EBI), Wellcome Genome Campus, Cambridge CB10 1SD, UK.ORCID 0000-0002-5777-9815
Muhammad UmairMedical Genomics Research Department, King Abdullah International Research Center (KAIMRC), King Saud Bin Abdulaziz University for Health Sciences, King Abdulaziz Medical City, Ministry of National Guard Health Affairs, Riyadh 11481, Saudi Arabia.ORCID 0000-0001-6729-9746
Amir UllahNephrology and Dialysis Unit, District Head Quarter Teaching Hospital, Bannu 28100, Pakistan.
Mohammad A AlshabeebDevelopmental Medicine Department, King Abdullah International Medical Research Center (KAIMRC), King Saud Bin Abdulaziz University for Health Sciences, Ministry of National Guard-Health Affairs (MNGHA), Riyadh 11481, Saudi Arabia.
Muhammad BilalDepartment of Biochemistry, Faculty of Biological Sciences, Quaid-i-Azam University, Islamabad 45320, Pakistan.
Farooq AhmadDepartment of Chemistry, Women University Swabi, Khyber Pakhtunkhwa 23430, Pakistan.ORCID 0000-0002-7472-519X
Gudrun A RappoldDepartment of Human Molecular Genetics, Institute of Human Genetics, Ruprecht-Karls-University, 69118 Heidelberg, Germany.
Muhammad AnsarDepartment of Biochemistry, Faculty of Biological Sciences, Quaid-i-Azam University, Islamabad 45320, Pakistan.
Raphael CarapitoLaboratoire d'ImmunoRhumatologie Moléculaire, Plateforme GENOMAX, INSERM UMR_S 1109, Faculté de Médecine, Fédération Hospitalo-Universitaire OMICARE, Fédération de Médecine Translationnelle de Strasbourg (FMTS), LabEx TRANSPLANTEX, Université de Strasbourg, 67085 Strasbourg, France.ORCID 0000-0002-7036-442X
Inserm · FRKing Saud bin Abdulaziz University for Health Sciences · SAQuaid-i-Azam University · PKHeidelberg University · DETongji University · CNUniversity of Swabi · PK

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Intellectual disability (ID) is a highly heterogeneous genetic condition with more than a thousand genes described so far. By exome sequencing of two consanguineous families presenting hallmark features of ID, we identified two homozygous variants in two genes previously associated with autosomal recessive ID:

Indexed as

Genes, RecessiveHomozygoteMutationAdultChildExome SequencingFemaleHumansIntellectual DisabilityMaleMethyltransferasesPedigreeSulfotransferasesYoung Adultheparitin sulfotransferaseMethyltransferasesSulfotransferasesautosomal recessive intellectual disabilityexome sequencingMETTL23NDST1

Identifiers

PMID32878022
PMCPMC7563614
OpenAlexW3081711286

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.