Evidence map›Paper›PMID 40771184›Full record

ArticleMolecular syndromology2025

Exploring Molecular and Phenotypic Characteristics of

Hande Kaymakcalan Celebiler, Tanyeri Barak, Devendra K Rai, Ilyas Kaya, Seda Erbilgin, Merve Cikili Uytun, Didem Oztop, Hakan Gumus, Huseyin Per, Serdar Ceylaner and 9 more

Abstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Molecular syndromology, 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.

Hande Kaymakcalan CelebilerDepartment of Translational Medicine, Acıbadem University, Istanbul, Turkey.
Tanyeri BarakDepartment of Neurosurgery, Program on Neurogenetics, Yale University School of Medicine, New Haven, CT, USA.
Devendra K RaiDepartment of Neurosurgery, Program on Neurogenetics, Yale University School of Medicine, New Haven, CT, USA.
Ilyas KayaDepartment of Child and Adolescent Psychiatry, Istanbul University, Istanbul Faculty of Medicine, Istanbul, Turkey.
Seda ErbilginDepartment of Child and Adolescent Psychiatry, Prof. Dr. Cemil Tascioglu City Hospital, Istanbul, Turkey.
Merve Cikili UytunDepartment of Child and Adolescent Psychiatry, Ankara University School of Medicine, Ankara, Turkey.
Didem OztopDepartment of Child and Adolescent Psychiatry, Ankara University School of Medicine, Ankara, Turkey.
Hakan GumusDivision of Pediatric Neurology, Department of Pediatrics, Erciyes University, School of Medicine, Kayseri, Turkey.
Huseyin PerDivision of Pediatric Neurology, Department of Pediatrics, Erciyes University, School of Medicine, Kayseri, Turkey.
Serdar CeylanerIntergen Genetic Diagnosis and Research Center, Ankara, Turkey.
Icten BozkurtSchool of Medicine, Bahcesehir University, Istanbul, Turkey.
Maria I KontaridisMasonic Medical Research Institute, Utica, NY, USA.
Kaya BilguvarDepartment of Translational Medicine, Acıbadem University, Istanbul, Turkey.
Nilay AkhunDepartment of Radiology, American Hospital, Istanbul, Turkey.
Ayse KilincaslanDepartment of Child and Adolescent Psychiatry, Istanbul University, Istanbul Faculty of Medicine, Istanbul, Turkey.
Ahmet Okay CaglayanDepartment of Neurosurgery, Program on Neurogenetics, Yale University School of Medicine, New Haven, CT, USA.
E Zeynep Erson-OmayDepartment of Neurosurgery, Program on Neurogenetics, Yale University School of Medicine, New Haven, CT, USA.
Murat GunelDepartment of Neurosurgery, Program on Neurogenetics, Yale University School of Medicine, New Haven, CT, USA.
A Gulhan Ercan-SencicekDepartment of Neurosurgery, Program on Neurogenetics, Yale University School of Medicine, New Haven, CT, USA.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Introduction: Mucopolysaccharidosis type IIIB is an autosomal recessive lysosomal disorder caused by variants in the α-n-acetylglucosaminidase ( Methods: We did whole-exome sequencing and standard Sanger sequencing on 7 cases of four consanguineous families diagnosed with autism spectrum disorder. Results: We identified two recurrent damaging biallelic Asp312Asn and p.Arg234Gly variants in the

Indexed as

Autism spectrum disorderLysosomal enzymeMucopolysaccharidoses IIIBNAGLUWhole-exome sequencing

Identifiers

PMID40771184
PMCPMC12324730

What OpenQuestion holds

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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.