Evidence map›Paper›PMID 39643435›Full record

ArticleJournal of medical genetics2025

Nicholas A Borja, Mohammad Faraz Zafeer, Stephanie Bivona, LéShon Peart, Sakir Humayun Gultekin, Undiagnosed Diseases Network, Guney Bademci, Mustafa Tekin, Undiagnosed Diseases Network NIH

Abstract readCase Reports
In one paragraph

Article in Journal of medical genetics, 2025. 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. 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

9 authors.

Nicholas A BorjaDr. John T. Macdonald Foundation Department of Human Genetics, University of Miami Miller School of Medicine, Miami, Florida, USA.ORCID http://orcid.org/0000-0002-9199-9096
Mohammad Faraz ZafeerJohn P. Hussman Institute for Human Genomics, University of Miami Miller School of Medicine, Miami, Florida, USA.
Stephanie BivonaDr. John T. Macdonald Foundation Department of Human Genetics, University of Miami Miller School of Medicine, Miami, Florida, USA.
LéShon PeartJohn P. Hussman Institute for Human Genomics, University of Miami Miller School of Medicine, Miami, Florida, USA.
Sakir Humayun GultekinDepartment of Pathology, University of Miami Miller School of Medicine, Miami, Florida, USA.
Undiagnosed Diseases Network
Guney BademciDr. John T. Macdonald Foundation Department of Human Genetics, University of Miami Miller School of Medicine, Miami, Florida, USA.
Mustafa TekinDr. John T. Macdonald Foundation Department of Human Genetics, University of Miami Miller School of Medicine, Miami, Florida, USA mtekin@med.miami.edu.
Undiagnosed Diseases Network NIH

Funding

The Undiagnosed Diseases Network Clinical Site of MiamiU01NS134353 · NINDS · UNIVERSITY OF MIAMI SCHOOL OF MEDICINE · PI MUSTAFA TEKIN, Stephan Zuchner · 2023 to 2026
$3.1M
Exploring minorities The Undiagnosed Diseases Network Clinical Site of MiamiU01HG010230 · NHGRI · UNIVERSITY OF MIAMI SCHOOL OF MEDICINE · PI TEKIN, MUSTAFA, ZUCHNER, STEPHAN · 2018 to 2021
$2.6M
UCLA clinical site for the investigation of undiagnosed disordersU01NS134356 · NINDS · UNIVERSITY OF CALIFORNIA LOS ANGELES · PI MARTINEZ-AGOSTO, JULIAN, NELSON, STANLEY F. · 2023 to 2023
$936k
C BRIGGSAE AND C ELEGANS GENOMIC SEQUENCE COMPARISONF32HG000130 · NHGRI · WASHINGTON UNIVERSITY · PI COUCH, JENNIFER A · 1994 to 1995
–
NHGRI NIH HHS F32 HG000130NHGRI NIH HHS U01 HG010230NINDS NIH HHS U01 NS134353NINDS NIH HHS U01 NS134356
6 · The paper itself

Abstract

PubMed holds no abstract for this paper.

Indexed as

KinesinsPeripheral Nervous System DiseasesTubulinChildCongenital Cranial Dysinnervation DisordersCorpus CallosumFemaleHumansMutation, MissenseOphthalmoplegiaPhenotypeProtein BindingStrabismusKIF21A protein, humanKinesinsTUBB3 protein, humanTubulinCongenital, Hereditary, and Neonatal Diseases and AbnormalitiesEye DiseasesHuman GeneticsNervous System Diseases

Identifiers

PMID39643435
PMCPMC11773626

What OpenQuestion holds

Textmetadata
LicenceTDM
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.