Evidence map›Paper›PMID 38667491›Full record

ArticleDiagnostics (Basel, Switzerland)2024

Illuminating the Genetic Basis of Congenital Heart Disease in Patients with Kabuki Syndrome.

Chung-Lin Lee, Chih-Kuang Chuang, Ming-Ren Chen, Ju-Li Lin, Huei-Ching Chiu, Ya-Hui Chang, Yuan-Rong Tu, Yun-Ting Lo, Hsiang-Yu Lin, Shuan-Pei Lin

Open access · goldAbstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Diagnostics (Basel, Switzerland), 2024. 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, top 93% of its field
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, 0 citations in OpenAlex.

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

10 authors at 6 institutions in 1 country.

Chung-Lin LeeDepartment of Pediatrics, MacKay Memorial Hospital, Taipei 10449, Taiwan.ORCID 0000-0001-8178-6938
Chih-Kuang ChuangDivision of Genetics and Metabolism, Department of Medical Research, MacKay Memorial Hospital, Taipei 10449, Taiwan.ORCID 0000-0001-9776-2092
Ming-Ren ChenDepartment of Pediatrics, MacKay Memorial Hospital, Taipei 10449, Taiwan.ORCID 0000-0003-0708-1002
Ju-Li LinDivision of Endocrine & Medical Genetics, Department of Pediatrics, Chang Gung Children's Medical Center, Chang Gung Memorial Hospital, Taoyuan 33378, Taiwan.
Huei-Ching ChiuDepartment of Pediatrics, MacKay Memorial Hospital, Taipei 10449, Taiwan.
Ya-Hui ChangDepartment of Pediatrics, MacKay Memorial Hospital, Taipei 10449, Taiwan.
Yuan-Rong TuDivision of Genetics and Metabolism, Department of Medical Research, MacKay Memorial Hospital, Taipei 10449, Taiwan.
Yun-Ting LoDepartment of Rare Disease Center, MacKay Memorial Hospital, Taipei 10449, Taiwan.
Hsiang-Yu LinDepartment of Pediatrics, MacKay Memorial Hospital, Taipei 10449, Taiwan.ORCID 0000-0002-9619-0990
Shuan-Pei LinDepartment of Pediatrics, MacKay Memorial Hospital, Taipei 10449, Taiwan.
Mackay Memorial Hospital · TWChang Gung Memorial Hospital · TWChina Medical University · TWFu Jen Catholic University · TWNational Taipei University of Nursing and Health Science · TWNational Yang Ming Chiao Tung University · TW

Funding

Mackay Memorial Hospital MMH-E-113-13, MMH-MM-112-14, MMH-E-112-13, and MMH-E-111-13Ministry of Science and Technology, Executive Yuan, Taiwan NSTC-112-2314-B-195-014-MY3, NSTC-112-2811-B-195-001, NSTC-112-2314-B-195-003, NSTC-111-2314-B-195-017, NSTC-111-2811-B-195-002, NSTC-111-2811-B-195-001, NSTC-110-2314-B-195-014, NSTC-110-2314-B-195-010-MY3, and NSTC-110-2314-B-195-029
6 · The paper itself

Abstract

Congenital heart defects (CHDs) affect a substantial proportion of patients with Kabuki syndrome. However, the prevalence and type of CHD and the genotype-phenotype correlations in Asian populations are not fully elucidated. This study performed a retrospective analysis of 23 Taiwanese patients with molecularly confirmed Kabuki syndrome. Twenty-two patients presented with pathogenic variants in the

Indexed as

congenital heart defectKabuki syndromeKMT2D geneTaiwan

Identifiers

PMID38667491
PMCPMC11049448
OpenAlexW4394962903

What OpenQuestion holds

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Registered trials

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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.