Evidence map›Paper›PMID 41596228›Full record

ReviewInternational journal of molecular sciences2026

Biallelic Truncating

Savas Baris, Mustafa Dogan, Kerem Terali, Alper Gezdirici, Recep Eroz, Peren Perk Yucel, Huseyin Kilic, Cuneyd Yavas, Gizem Yildirim, Ibrahim Baris

Abstract readCase ReportsReview
In one paragraph

Review in International journal of molecular sciences, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 2 papers.

0numbers the graph read from it
0cells of the map it votes in
2citing 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

2 citing papers in PubMed.

  1. Article
  2. Frontiers in genetics · 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

10 authors.

Savas BarisDepartment of Medical Genetics, Aydın Maternity and Children's Hospital, Aydin 09020, Turkey.
Mustafa DoganDivision of Genetics, Gelisim Medical Laboratories, Istanbul 34100, Turkey.ORCID 0000-0003-0464-6565
Kerem TeraliDepartment of Medical Biochemistry, Faculty of Medicine, Cyprus Health and Social Sciences University, Morphou 99750, Cyprus.ORCID 0000-0002-9964-6383
Alper GezdiriciDepartment of Medical Genetics, University of Health Sciences Basaksehir Cam and Sakura State Hospital, Istanbul 34480, Turkey.ORCID 0000-0002-2432-9279
Recep ErozDepartment of Medical Genetics, Faculty of Medicine, Aksaray University, Aksaray 68100, Turkey.
Peren Perk YucelDepartment of Pediatric Neurology, Basaksehir Cam and Sakura State Hospital, Istanbul 34480, Turkey.
Huseyin KilicDepartment of Pediatric Neurology, Cerrahpasa Faculty of Medicine, Istanbul University, Istanbul 34098, Turkey.ORCID 0000-0003-1987-507X
Cuneyd YavasDepartment of Molecular Biology and Genetics, Biruni University, Istanbul 34015, Turkey.ORCID 0000-0002-1597-5922
Gizem YildirimDepartment of Medical Genetics, University of Health Sciences Basaksehir Cam and Sakura State Hospital, Istanbul 34480, Turkey.ORCID 0009-0001-6546-5306
Ibrahim BarisDepartment of Molecular Biology and Genetics, Koc University, Istanbul 34450, Turkey.ORCID 0000-0003-2185-3259

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Neurodevelopmental disorders (NDDs) with ataxia are genetically heterogeneous and remain a diagnostic challenge. Recent advances in genomic technologies have facilitated the identification of rare, potentially causative variants in genes not traditionally associated with classic NDD phenotypes. The

Indexed as

AtaxiaAxonemal DyneinsFriedreich AtaxiaNeurodevelopmental DisordersAdultAllelesExome SequencingFemaleHumansMalePedigreePhenotypeSiblingsAxonemal DyneinsataxiabioinformaticDNAH14genetic diseaseneurodevelopmentvariant

Identifiers

PMID41596228
PMCPMC12841059

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.