Evidence map›Paper›PMID 40508022›Full record

ArticleInternational journal of molecular sciences2025

Biallelic Loss-of-Function Variant in

Aljazi Al-Maraghi, Rulan Shaath, Katherine Ford, Waleed Aamer, Jehan AlRayahi, Sura Hussein, Elbay Aliyev, Nourhen Agrebi, Muhammad Kohailan, Satanay Z Hubrack and 9 more

Abstract readCase Reports
In one paragraph

Article in International journal of molecular sciences, 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

19 authors.

Aljazi Al-MaraghiLaboratory of Genomic Medicine, Research Section, Sidra Medicine, Doha P.O. Box 26999, Qatar.
Rulan ShaathLaboratory of Genomic Medicine, Research Section, Sidra Medicine, Doha P.O. Box 26999, Qatar.
Katherine FordLaboratory of Immunoregulation, Research Section, Sidra Medicine, Doha P.O. Box 26999, Qatar.ORCID 0009-0009-5558-8714
Waleed AamerLaboratory of Genomic Medicine, Research Section, Sidra Medicine, Doha P.O. Box 26999, Qatar.ORCID 0000-0002-1324-3509
Jehan AlRayahiDepartment of Pediatric Radiology, Sidra Medicine, Doha P.O. Box 26999, Qatar.ORCID 0000-0003-3864-6547
Sura HusseinLaboratory of Genomic Medicine, Research Section, Sidra Medicine, Doha P.O. Box 26999, Qatar.
Elbay AliyevLaboratory of Genomic Medicine, Research Section, Sidra Medicine, Doha P.O. Box 26999, Qatar.ORCID 0000-0002-6469-1854
Nourhen AgrebiLaboratory of Immunoregulation, Research Section, Sidra Medicine, Doha P.O. Box 26999, Qatar.
Muhammad KohailanLaboratory of Genomic Medicine, Research Section, Sidra Medicine, Doha P.O. Box 26999, Qatar.ORCID 0000-0001-5950-7939
Satanay Z HubrackLaboratory of Immunoregulation, Research Section, Sidra Medicine, Doha P.O. Box 26999, Qatar.
Sasirekha PalaniswamyLaboratory of Genomic Medicine, Research Section, Sidra Medicine, Doha P.O. Box 26999, Qatar.
Adam D KennedyMetabolon Inc., Morrisville, NC 27560, USA.
Karen L DeBalsiMetabolon Inc., Morrisville, NC 27560, USA.
Sarah H ElseaDepartment of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.
Ruba BeniniNeurology Division, Sidra Medicine, Doha P.O. Box 26999, Qatar.ORCID 0000-0001-7829-8722
Tawfeg Ben-OmranGenetic and Genomic Medicine Division, Sidra Medicine, Doha P.O. Box 26999, Qatar.
Bernice LoCollege of Health and Life Sciences, Hamad Bin Khalifa University, Doha P.O. Box 34110, Qatar.ORCID 0000-0002-1087-6845
Ammira S A AkilLaboratory of Genomic Medicine, Research Section, Sidra Medicine, Doha P.O. Box 26999, Qatar.
Khalid A FakhroLaboratory of Genomic Medicine, Research Section, Sidra Medicine, Doha P.O. Box 26999, Qatar.ORCID 0000-0002-3150-1276

Funding

Qatar Foundation, National Priorities Research Program NPRP11S-0110-180250
6 · The paper itself

Abstract

Pontocerebellar hypoplasia (PCH) encompasses a group of autosomal recessive neurodegenerative disorders marked by cerebellar and pontine atrophy. Multiple subtypes of PCH have been identified, among which the rare subtype PCH type 16 is caused by

Indexed as

Cerebellar DiseasesLoss of Function MutationNeurodevelopmental DisordersPhosphoric Monoester HydrolasesAllelesHumansPedigreePhosphoinositide 5-PhosphatasesPhosphoinositide 5-PhosphatasesPhosphoric Monoester HydrolasesMiddle Eastneurodegenerative disorderpontocerebellar hypoplasiarare diseasewhole genome sequencing

Identifiers

PMID40508022
PMCPMC12154299

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.