Expanding the Clinical and Molecular Spectrum of Primary Autosomal Recessive Microcephaly: Novel CDK5RAP2 Gene Variants and Functional Insights on the Intronic Variants.

Burcu Yeter, Yasemin Kendir Demirkol, Esra Usluer, İpek Görüşen Kavak, Sena Gjota Ergin, Nursel H Elçioğlu

Abstract read

In one paragraph

Article in Genes, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.

0numbers the graph read from it

0cells of the map it votes in

1citing 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

1 citing paper in PubMed.

Expanding the genetic spectrum of autosomal recessive microcephaly in Pakistani families.BMC neurology · 2026
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

6 authors.

Burcu YeterDepartment of Pediatric Genetics, Umraniye Training and Research Hospital, University of Health Sciences, Istanbul 34764, Türkiye.ORCID 0000-0002-6255-1057

Yasemin Kendir DemirkolDepartment of Pediatric Genetics, Umraniye Training and Research Hospital, University of Health Sciences, Istanbul 34764, Türkiye.ORCID 0000-0001-8016-5224

Esra UsluerDepartment of Pediatric Genetics, Umraniye Training and Research Hospital, University of Health Sciences, Istanbul 34764, Türkiye.ORCID 0000-0003-4849-2078

İpek Görüşen KavakDepartment of Pediatrics, School of Medical, Marmara University, Istanbul 34899, Türkiye.ORCID 0000-0001-9198-2721

Sena Gjota ErginIntergen Genetics and Rare Disease Diagnosis Center, R&D Department, Ankara 06510, Türkiye.

Nursel H ElçioğluDepartment of Pediatric Genetics, School of Medical, Marmara University, Istanbul 34899, Türkiye.ORCID 0000-0003-0051-6720

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

PubMed holds no abstract for this paper.

Indexed as

Cell Cycle ProteinsIntracellular Signaling Peptides and ProteinsMicrocephalyNerve Tissue ProteinsAdolescentChildChild, PreschoolExome SequencingFemaleHumansInfantIntronsMaleMutationPedigreeCDK5RAP2 protein, humanCell Cycle ProteinsIntracellular Signaling Peptides and ProteinsNerve Tissue Proteinsautosomal recessive primary microcephaly 3CDK5RAP2MCPH3primary microcephalyrare diseasewhole-exome sequencing

Identifiers

PMID41153337

DOI10.3390/genes16101120

PMCPMC12564466

What OpenQuestion holds

Textmetadata

LicenceCC BY

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Registered trials

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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.