Evidence map›Paper›PMID 41555927›Full record

ArticleFrontiers in genetics2025

Expanding the mutational spectrum of congenital microcephaly in Pakistani families.

Sundas Farooq, Maria Asif, Ansar A Abbasi, Zahid Latif, Bonsu Ku, Ehtisham Ul Haq Makhdoom, Madiha Shadab, Muzammil Ahmad Khan, Muhammad Muzammal, Raja Waqar and 5 more

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Article in Frontiers in genetics, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

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

0 citing papers in PubMed.

No citing paper in PubMed yet.

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

15 authors.

Sundas Farooq *Department of Zoology, Mirpur University of Science and Technology (MUST), Mirpur, Pakistan.
Maria Asif *Cologne Center for Genomics (CCG), University of Cologne, Faculty of Medicine and University Hospital Cologne, Cologne, Germany.
Ansar A AbbasiDepartment of Zoology, Mirpur University of Science and Technology (MUST), Mirpur, Pakistan.
Zahid LatifDepartment of Zoology, Mirpur University of Science and Technology (MUST), Mirpur, Pakistan.
Bonsu KuOrphan Disease Therapeutic Target Research Center, Korea Research Institute of Bioscience and Biotechnology, Daejeon, Republic of Korea.
Ehtisham Ul Haq MakhdoomCologne Center for Genomics (CCG), University of Cologne, Faculty of Medicine and University Hospital Cologne, Cologne, Germany.
Madiha ShadabDepartment of Zoology, Mirpur University of Science and Technology (MUST), Mirpur, Pakistan.
Muzammil Ahmad KhanGomal Center of Biochemistry and Biotechnology, Gomal University, Dera Ismail Khan, Khyber-Pakhtunkhwa, Pakistan.
Muhammad MuzammalGomal Center of Biochemistry and Biotechnology, Gomal University, Dera Ismail Khan, Khyber-Pakhtunkhwa, Pakistan.
Raja WaqarDepartment of Zoology, University of Kotli, Kotli, Pakistan.
Rameez NisarDepartment of Zoology, Mirpur University of Science and Technology (MUST), Mirpur, Pakistan.
Falak Sher KhanDepartment of Biological Sciences, University of Sialkot, Sialkot, Pakistan.
Sanwal AslamSchool of the Environment and Safety Engineering, Jiangsu University, Zhenjiang, China.
Michal R SchweigerCologne Center for Genomics (CCG), University of Cologne, Faculty of Medicine and University Hospital Cologne, Cologne, Germany.
Muhammad Sajid HussainCologne Center for Genomics (CCG), University of Cologne, Faculty of Medicine and University Hospital Cologne, Cologne, Germany.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Autosomal recessive primary microcephaly (MCPH) is a genetically heterogeneous neurodevelopmental disorder characterized by a markedly reduced head circumference (-3 to -5 standard deviations) at birth, with relatively preserved brain architecture. Affected individuals often present with mild to moderate intellectual disability, and the condition is more prevalent in populations with high rates of consanguinity, such as Pakistan. To date, pathogenic variants in at least 32 genes have been associated with MCPH, with

Indexed as

ASPMCPAPprimary microcephalyTCP10 domainWDR62whole exome sequencing

Identifiers

PMID41555927
PMCPMC12812388

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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.