Evidence map›Paper›PMID 39125727›Full record

ArticleInternational journal of molecular sciences2024

Genomic Landscape of Branchio-Oto-Renal Syndrome through Whole-Genome Sequencing: A Single Rare Disease Center Experience in South Korea.

Sung Ho Cho, Sung Ho Jeong, Won Hoon Choi, Sang-Yeon Lee

Abstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in International journal of molecular sciences, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 5 papers.

0numbers the graph read from it
0cells of the map it votes in
5citing 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

5 citing papers in PubMed.

  1. Clinical and Genetic Features inDiagnostics (Basel, Switzerland) · 2026
    Article
  2. Article
  3. Article
  4. Review
  5. Case report of a novelJournal of otology · 2025
    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

4 authors.

Sung Ho ChoDepartment of Otorhinolaryngology-Head and Neck Surgery, Seoul National University Hospital, Seoul National University College of Medicine, Seoul 03080, Republic of Korea.
Sung Ho JeongDepartment of Otorhinolaryngology-Head and Neck Surgery, Seoul National University Hospital, Seoul National University College of Medicine, Seoul 03080, Republic of Korea.ORCID 0009-0008-4388-7859
Won Hoon ChoiDepartment of Otorhinolaryngology-Head and Neck Surgery, Seoul National University Hospital, Seoul National University College of Medicine, Seoul 03080, Republic of Korea.
Sang-Yeon LeeDepartment of Otorhinolaryngology-Head and Neck Surgery, Seoul National University Hospital, Seoul National University College of Medicine, Seoul 03080, Republic of Korea.

Funding

SNUH Kun-hee Lee Child Cancer & Rare Disease Project, Republic of Korea FP-2022-00001-004
6 · The paper itself

Abstract

Branchio-oto-renal (BOR) and branchio-otic (BO) syndromes are characterized by anomalies affecting the ears, often accompanied by hearing loss, as well as abnormalities in the branchial arches and renal system. These syndromes exhibit a broad spectrum of phenotypes and a complex genomic landscape, with significant contributions from the

Indexed as

Branchio-Oto-Renal SyndromeDNA Copy Number VariationsWhole Genome SequencingAdolescentAdultChildChild, PreschoolFemaleGenomicsHomeodomain ProteinsHumansInfantIntracellular Signaling Peptides and ProteinsMaleNuclear ProteinsPedigreeEYA1 protein, humanHomeodomain ProteinsIntracellular Signaling Peptides and ProteinsNuclear ProteinsProtein Tyrosine PhosphatasesSIX1 protein, humanSIX5 protein, humanBOR/BO syndromemolecular diagnosisstructural variations (SVs)whole-genome sequencing (WGS)

Identifiers

PMID39125727
PMCPMC11311636

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.