Evidence map›Paper›PMID 34068194›Full record

ArticleGenes2021

Modifier Genes in Microcephaly: A Report on

Ehtisham Ul Haq Makhdoom, Syeda Seema Waseem, Maria Iqbal, Uzma Abdullah, Ghulam Hussain, Maria Asif, Birgit Budde, Wolfgang Höhne, Sigrid Tinschert, Saadia Maryam Saadi and 15 more

Open access · goldAbstract readCase Reports
In one paragraph

Article in Genes, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 6 papers.

0numbers the graph read from it
0cells of the map it votes in
6citing papers in PubMed
1.5field-weighted citation impact, top 18% 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

6 citing papers in PubMed, 10 citations in OpenAlex.

  1. Article
  2. Review
  3. Review
  4. Review
  5. Annals of translational medicine · 2022
    Article
  6. 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

25 authors at 9 institutions in 4 countries.

Ehtisham Ul Haq MakhdoomCologne Center for Genomics (CCG), Faculty of Medicine and University Hospital Cologne, University of Cologne, 50931 Cologne, Germany.
Syeda Seema WaseemCologne Center for Genomics (CCG), Faculty of Medicine and University Hospital Cologne, University of Cologne, 50931 Cologne, Germany.
Maria IqbalCologne Center for Genomics (CCG), Faculty of Medicine and University Hospital Cologne, University of Cologne, 50931 Cologne, Germany.
Uzma AbdullahUniversity Institute of Biochemistry and Biotechnology (UIBB), PMAS-Arid Agriculture University, Rawalpindi 46000, Pakistan.ORCID 0000-0002-7168-8266
Ghulam HussainNeurochemicalbiology and Genetics Laboratory (NGL), Department of Physiology, Faculty of Life Sciences, Government College University, Faisalabad 38000, Pakistan.
Maria AsifCologne Center for Genomics (CCG), Faculty of Medicine and University Hospital Cologne, University of Cologne, 50931 Cologne, Germany.
Birgit BuddeCologne Center for Genomics (CCG), Faculty of Medicine and University Hospital Cologne, University of Cologne, 50931 Cologne, Germany.ORCID 0000-0001-9385-4168
Wolfgang HöhneCologne Center for Genomics (CCG), Faculty of Medicine and University Hospital Cologne, University of Cologne, 50931 Cologne, Germany.
Sigrid TinschertZentrum Medizinische Genetik, Medizinische Universität, 6020 Innsbruck, Austria.
Saadia Maryam SaadiHuman Molecular Genetics Laboratory, Health Biotechnology Division, National Institute for Biotechnology and Genetic Engineering (NIBGE) College, PIEAS, Faisalabad 38000, Pakistan.ORCID 0000-0001-5962-2101
Hammad YousafHuman Molecular Genetics Laboratory, Health Biotechnology Division, National Institute for Biotechnology and Genetic Engineering (NIBGE) College, PIEAS, Faisalabad 38000, Pakistan.
Zafar AliCentre for Biotechnology and Microbiology, University of Swat, Swat 19130, Pakistan.
Ambrin FatimaDepartment of Biological and Biomedical Sciences, Aga Khan University, Karachi 74000, Pakistan.
Emrah KaygusuzBilecik Şeyh Edebali University, Molecular Biology and Genetics, Gülümbe Campus, Bilecik 11230, Turkey.ORCID 0000-0001-6984-8526
Ayaz KhanHuman Molecular Genetics Laboratory, Health Biotechnology Division, National Institute for Biotechnology and Genetic Engineering (NIBGE) College, PIEAS, Faisalabad 38000, Pakistan.ORCID 0000-0002-4743-7387
Muhammad JameelHuman Molecular Genetics Laboratory, Health Biotechnology Division, National Institute for Biotechnology and Genetic Engineering (NIBGE) College, PIEAS, Faisalabad 38000, Pakistan.
Sheraz KhanHuman Molecular Genetics Laboratory, Health Biotechnology Division, National Institute for Biotechnology and Genetic Engineering (NIBGE) College, PIEAS, Faisalabad 38000, Pakistan.ORCID 0000-0003-3207-4074
Muhammad TariqHuman Molecular Genetics Laboratory, Health Biotechnology Division, National Institute for Biotechnology and Genetic Engineering (NIBGE) College, PIEAS, Faisalabad 38000, Pakistan.ORCID 0000-0002-5334-403X
Iram AnjumDepartment of Biotechnology, Kinnaird College for Women, Lahore 54000, Pakistan.ORCID 0000-0002-9015-3179
Janine AltmüllerCologne Center for Genomics (CCG), Faculty of Medicine and University Hospital Cologne, University of Cologne, 50931 Cologne, Germany.
Holger ThieleCologne Center for Genomics (CCG), Faculty of Medicine and University Hospital Cologne, University of Cologne, 50931 Cologne, Germany.
Stefan HöningInstitute of Biochemistry I, Medical Faculty, University of Cologne, 50931 Cologne, Germany.
Shahid Mahmood BaigHuman Molecular Genetics Laboratory, Health Biotechnology Division, National Institute for Biotechnology and Genetic Engineering (NIBGE) College, PIEAS, Faisalabad 38000, Pakistan.
Peter NürnbergCologne Center for Genomics (CCG), Faculty of Medicine and University Hospital Cologne, University of Cologne, 50931 Cologne, Germany.ORCID 0000-0002-7228-428X
Muhammad Sajid HussainCologne Center for Genomics (CCG), Faculty of Medicine and University Hospital Cologne, University of Cologne, 50931 Cologne, Germany.ORCID 0000-0002-1353-8809
University of Cologne · DENational Institute for Biotechnology and Genetic Engineering · PKAga Khan University · PKBilecik Şeyh Edebali Üniversitesi · TRGovernment College University, Faisalabad · PKInnsbruck Medical University · ATKinnaird College for Women University · PKPir Mehr Ali Shah Arid Agriculture University · PKUniversity of Swat · PK

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Congenital microcephaly is the clinical presentation of significantly reduced head circumference at birth. It manifests as both non-syndromic-microcephaly primary hereditary (MCPH)-and syndromic forms and shows considerable inter- and intrafamilial variability. It has been hypothesized that additional genetic variants may be responsible for this variability, but data are sparse. We have conducted deep phenotyping and genotyping of five Pakistani multiplex families with either MCPH (

Indexed as

Genes, ModifierAcid Anhydride HydrolasesAdultAntigensCell Cycle ProteinsChildDNA-Binding ProteinsFemaleHeterozygoteHumansMaleMicrocephalyMicrotubule-Associated ProteinsMutationNerve Tissue ProteinsPedigreeAcid Anhydride HydrolasesAntigensASPM protein, humanCell Cycle ProteinsCENPJ protein, humanCEP63 protein, humanDNA-Binding ProteinsMicrotubule-Associated ProteinsNerve Tissue ProteinspericentrinRAD50 protein, humanWDR62 protein, humanimpaired splicingMCPHmodifier allelesprimordial dwarfismSeckel syndromesupernumerary centrosomes

Identifiers

PMID34068194
PMCPMC8153008
OpenAlexW3161850838

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.