Evidence map›Paper›PMID 41828661›Full record

ArticleInternational journal of molecular sciences2026

Skipping the Biopsy: Real-World Experience of Whole-Exome Sequencing as First-Tier Testing in Pediatric Muscular Disorders.

Chung-Lin Lee, Ya-Hui Chang, Chih-Kuang Chuang, Huei-Ching Chiu, Yuan-Rong Tu, Yun-Ting Lo, Jun-Yi Wu, Hsiang-Yu Lin, Shuan-Pei Lin

Abstract read
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Article in International journal of molecular sciences, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

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1 · What the graph read from it

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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

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3 · Its place in the literature

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4 · The record

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5 · Who and what money

Authors and funding

9 authors.

Chung-Lin LeeDepartment of Pediatrics, MacKay Memorial Hospital, Taipei 104217, Taiwan.ORCID 0000-0001-8178-6938
Ya-Hui ChangDepartment of Pediatrics, MacKay Memorial Hospital, Taipei 104217, Taiwan.
Chih-Kuang ChuangDivision of Genetics and Metabolism, Department of Medical Research, MacKay Memorial Hospital, Taipei 104217, Taiwan.ORCID 0000-0001-9776-2092
Huei-Ching ChiuDepartment of Pediatrics, MacKay Memorial Hospital, Taipei 104217, Taiwan.
Yuan-Rong TuDivision of Genetics and Metabolism, Department of Medical Research, MacKay Memorial Hospital, Taipei 104217, Taiwan.
Yun-Ting LoInternational Rare Disease Center, MacKay Memorial Hospital, Taipei 104217, Taiwan.
Jun-Yi WuInternational Rare Disease Center, MacKay Memorial Hospital, Taipei 104217, Taiwan.
Hsiang-Yu LinDepartment of Pediatrics, MacKay Memorial Hospital, Taipei 104217, Taiwan.ORCID 0000-0002-9619-0990
Shuan-Pei LinDepartment of Pediatrics, MacKay Memorial Hospital, Taipei 104217, Taiwan.

Funding

Mackay Memorial Hospital MMH-E-114-13, MMH-MM-113-13, MMH-E-113-13, MMH-MM-112-14, and MMH-E-112-13National Science and Technology Council, Taiwan NSTC-114-2811-B-195-002, NSTC-114-2314-B-195-001, NSTC-114-2314-B-715-001, NSTC-114-2314-B-195-002, NSTC-113-2314-B-195-003, NSTC-113-2314-B-195-004, NSTC-113-2314-B-715-002, NSTC-113-2314-B-195-021, NSTC-113-2811-B-195-001, NSTC-112-2314-B-195-014-MY3, N
6 · The paper itself

Abstract

Muscle biopsy has long been regarded as the cornerstone for diagnosing pediatric muscular disorders; however, it is invasive and may be limited by sampling error and inconclusive histopathological findings. This study aimed to evaluate whether whole-exome sequencing (WES) can effectively replace muscle biopsy as a first-line diagnostic approach in children with suspected neuromuscular disorders. Between January 2018 and December 2025, we prospectively enrolled 47 pediatric patients presenting with clinical features suggestive of muscular disorders at a tertiary medical center in Taiwan. The cohort included patients with suspected muscular dystrophies (

Indexed as

Exome SequencingMuscular DiseasesAdolescentBiopsyChildChild, PreschoolFemaleHumansInfantMaleMuscular DystrophiesMutationTaiwancongenital myopathydiagnostic yieldmuscle biopsymuscular dystrophywhole-exome sequencing

Identifiers

PMID41828661
PMCPMC12985423

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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.