Evidence map›Paper›PMID 41300846›Full record

ArticleDiagnostics (Basel, Switzerland)2025

Maximizing Diagnostic Yield in Intellectual Disability Through Exome Sequencing: Genotype-Phenotype Insights in a Vietnamese Cohort.

Thu Lan Hoang, Thi Kim Phuong Doan, Thi Ngoc Lan Hoang, Cam Tu Ho, Thi Ha Vu, Thi Trang Nguyen, Thi Huyen Vu, Thi Trang Dao, Thi Minh Ngoc Nguyen, Phuong Mai Nguyen and 9 more

Abstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Diagnostics (Basel, Switzerland), 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

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

19 authors.

Thu Lan HoangDepartment of Medical Biology and Genetics, Hanoi Medical University, Hanoi 100000, Vietnam.
Thi Kim Phuong DoanDepartment of Medical Biology and Genetics, Hanoi Medical University, Hanoi 100000, Vietnam.
Thi Ngoc Lan HoangDepartment of Medical Biology and Genetics, Hanoi Medical University, Hanoi 100000, Vietnam.
Cam Tu HoCenter for Gene and Protein Research, Hanoi Medical University, Hanoi 100000, Vietnam.ORCID 0000-0001-8239-096X
Thi Ha VuDepartment of Medical Biology and Genetics, Hanoi Medical University, Hanoi 100000, Vietnam.ORCID 0000-0002-9866-5689
Thi Trang NguyenDepartment of Medical Biology and Genetics, Hanoi Medical University, Hanoi 100000, Vietnam.
Thi Huyen VuDepartment of Medical Biology and Genetics, Hanoi Medical University, Hanoi 100000, Vietnam.ORCID 0000-0002-3088-5220
Thi Trang DaoDepartment of Medical Biology and Genetics, Hanoi Medical University, Hanoi 100000, Vietnam.
Thi Minh Ngoc NguyenDepartment of Medical Biology and Genetics, Hanoi Medical University, Hanoi 100000, Vietnam.
Phuong Mai NguyenDepartment of Medical Biology and Genetics, Hanoi Medical University, Hanoi 100000, Vietnam.ORCID 0009-0003-6733-1832
Huu Duc Anh NguyenDepartment of Medical Biology and Genetics, Hanoi Medical University, Hanoi 100000, Vietnam.
Chi Dung VuDepartment of Medical Biology and Genetics, Hanoi Medical University, Hanoi 100000, Vietnam.ORCID 0009-0007-0418-2613
Phuong Thao DoDepartment of Pediatrics, Hanoi Medical University, Hanoi 100000, Vietnam.
Quang Phuc PhamDepartment of Neurosurgery, Thanh Nhan Hospital, Hanoi 100000, Vietnam.
Quang Trung NguyenDepartment of Otolaryngology, Hanoi Medical University, Hanoi 100000, Vietnam.
Thi Phuong Mai NguyenDepartment of Pediatrics, Hanoi Medical University, Hanoi 100000, Vietnam.
Thi Thuy Ninh ToDepartment of Medical Biology and Genetics, Hanoi Medical University, Hanoi 100000, Vietnam.ORCID 0009-0002-7813-6509
Hoa GiangInstitute of Medical Genetics, Ho Chi Minh 70000, Vietnam.ORCID 0000-0001-6549-8012
Thi Lan Anh LuongDepartment of Medical Biology and Genetics, Hanoi Medical University, Hanoi 100000, Vietnam.ORCID 0000-0003-0669-9919

Funding

Screening and Etiology Diagnosis of Genetic Mental Retardation in Vietnamese people ĐTĐL.CN-80/22
6 · The paper itself

Abstract

PubMed holds no abstract for this paper.

Indexed as

clinical exome sequencing (CES)copy number variants (CNVs)genotype–phenotype correlationhierarchical cluster analysis (HCA)intellectual disability (ID)multidimensional phenotypic analysisneurodevelopmental disorderspathway clusteringwhole-exome sequencing (WES)Z-score

Identifiers

PMID41300846
PMCPMC12651281

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.