Evidence map›Paper›PMID 39006436›Full record

ArticlemedRxiv : the preprint server for health sciences2025

Pathogenic variants in

Kimberly A Chapman, Farid Ullah, Zachary A Yahiku, Sheraz Khan, Sri Varsha Kodiparthi, Georgios Kellaris, Hazel G White, Andrew T Powell, Sandrina P Correia, Tommy Stödberg and 17 more

Abstract readPreprint
PubMed Full text at PMC Publisher
In one paragraph

Article in medRxiv : the preprint server for health 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

5 · Who and what money

Authors and funding

27 authors.

Kimberly A ChapmanChildren's National Rare Disease Institute and Center for Genetic Medicine Research, Washington DC, USA.ORCID 0000-0002-5471-9083
Farid UllahStanley Manne Children's Research Institute, Ann & Robert H. Lurie Children's Hospital of Chicago, Chicago, IL, USA.ORCID 0000-0001-8108-8347
Zachary A YahikuDepartment of Neuroscience, University of Arizona, Tucson AZ, USA.ORCID 0000-0001-9659-2263
Sheraz KhanStanley Manne Children's Research Institute, Ann & Robert H. Lurie Children's Hospital of Chicago, Chicago, IL, USA.
Sri Varsha KodiparthiAIQure LLC, El Paso, TX, USA.
Georgios KellarisStanley Manne Children's Research Institute, Ann & Robert H. Lurie Children's Hospital of Chicago, Chicago, IL, USA.
Hazel G WhiteDepartment of Neuroscience, University of Arizona, Tucson AZ, USA.
Andrew T PowellDepartment of Neuroscience, University of Arizona, Tucson AZ, USA.
Sandrina P CorreiaCentre for Inherited Metabolic Diseases, Karolinska University Hospital, Stockholm, Sweden.
Tommy StödbergDepartment of Women's and Children`s Health, Karolinska Institute, Stockholm, Sweden; and Department of Pediatric Neurology, Karolinska University Hospital, Stockholm, Sweden.
Christalena SofokleousLaboratory of Medical Genetics, Medical School, National and Kapodistrian University of Athens, St. Sophia's Children's Hospital, Athens, Greece.ORCID 0000-0002-3205-4287
Nikolaos M MarinakisLaboratory of Medical Genetics, Medical School, National and Kapodistrian University of Athens, St. Sophia's Children's Hospital, Athens, Greece.
Helena FryssiraLaboratory of Medical Genetics, Medical School, National and Kapodistrian University of Athens, St. Sophia's Children's Hospital, Athens, Greece.
Eirini TsoutsouLaboratory of Medical Genetics, Medical School, National and Kapodistrian University of Athens, St. Sophia's Children's Hospital, Athens, Greece.
Jan Traeger-SynodinosLaboratory of Medical Genetics, Medical School, National and Kapodistrian University of Athens, St. Sophia's Children's Hospital, Athens, Greece.
Andrea AccogliDivision of Medical Genetics, Department of Medicine, and Department of Human Genetics, McGill University, Montreal, QC, Canada.
Vittorio SciruicchioChildren Epilepsy and EEG Center, Bari, Italy.
Vincenzo SalpietroDepartment of Neuromuscular Disorders, Queen Square Institute of Neurology, University. College London, London, WC1N 3BG, UK.
Pasquale StrianoDepartment of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health (DINOGMI), University of Genoa, Genoa, Italy.
Candace MussNemours Children's Hospital, Wilmington, DE, USA.
Boris KerenGenetic Department, Pitié-Salpêtrière Hospital, AP-HP. Sorbonne University, Paris France.
Delphine HeronGenetic Department, Pitié-Salpêtrière Hospital, AP-HP. Sorbonne University, Paris France.
Seth I BergerChildren's National Rare Disease Institute and Center for Genetic Medicine Research, Washington DC, USA.ORCID 0000-0001-7517-4302
Kelvin W PondDepartment of Cellular and Molecular Medicine, University of Arizona College of Medicine - Tucson, AZ, USA.ORCID 0000-0003-0519-4679
Suman SirimullaAIQure LLC, El Paso, TX, USA.ORCID 0000-0003-4665-6665
Erica E DavisStanley Manne Children's Research Institute, Ann & Robert H. Lurie Children's Hospital of Chicago, Chicago, IL, USA.ORCID 0000-0002-2412-8397
Martha Rc BhattacharyaDepartment of Neuroscience, University of Arizona, Tucson AZ, USA.ORCID 0000-0001-7130-0885

Funding

Functional Dissection of CNVs in Neurodevelopmental TraitsR01MH106826 · NIMH · LURIE CHILDREN'S HOSPITAL OF CHICAGO · PI DAVIS, ERICA ELLEN · 2015 to 2025
$4.6M
Establishing the Function of TMEM184B in mTORC1 Regulation and Synaptic MaintenanceR01NS105680 · NINDS · UNIVERSITY OF ARIZONA · PI Martha Ruth Chase Bhattacharya · 2018 to 2026
$3.4M
NIMH NIH HHS R01 MH106826NINDS NIH HHS R01 NS105680
6 · The paper itself

Abstract

Transmembrane protein 184B (TMEM184B) is an endosomal 7-pass transmembrane protein with evolutionarily conserved roles in synaptic structure and axon degeneration. We report six pediatric cases who have

Identifiers

PMID39006436
PMCPMC11245063

What OpenQuestion holds

Textmetadata
LicenceCC BY-NC
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 OpenQuestion graph.