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Frontiers in Genetics|February 10, 2026
Case Report: Novel ADAMTSL2 compound heterozygous mutations in geleophysic dysplasia with bilateral glaucoma and keratoconus-like corneal ectasiaChung-Lin Lee, Chih-Kuang Chuang, Huei-Ching Chiu, et al.
Diagnostics (Basel, Switzerland)|July 28, 2026
From Array-CGH to Whole-Genome Sequencing: A 29-Year Diagnostic Journey Culminating in the Identification of a De Novo ABCC9 Variant Consistent with Cantú SyndromeChung-Lin Lee, Ya-Hui Chang, Chih-Kuang Chuang, et al.
International Journal of Molecular Sciences|July 28, 2026
Autophagy-Lysosomal Dysfunction as a Converging Mechanism of Cardiomyopathy in Lysosomal Storage Disorders: From Pathobiology to Targeted TherapyChung-Lin Lee, Chih-Kuang Chuang, Ya-Hui Chang, et al.
Plos One|May 25, 2012
Overexpression of Akt1 enhances adipogenesis and leads to lipoma formation in zebrafishChe-Yu Chu, Chi-Fang Chen, R Samuel Rajendran, et al.
Children (Basel, Switzerland)|June 24, 2022
Rapid Weight Loss and Severe Failure to Thrive Mimicking Lipodystrophy Syndrome in a 1-Year-Old Taiwanese Girl with Costello SyndromeYu-Min Syu, Hung-Chang Lee, Jui-Hsing Chang, et al.
Orphanet Journal of Rare Diseases|February 24, 2021
Natural progression of cardiac features and long-term effects of enzyme replacement therapy in Taiwanese patients with mucopolysaccharidosis IIHsiang-Yu Lin, Ming-Ren Chen, Chung-Lin Lee, et al.
Pediatrics and Neonatology|March 16, 2015
A Truncating De Novo Point Mutation in a Young Infant with Severe Menkes DiseaseYi-Jie Lin, Che-Sheng Ho, Chyong-Hsin Hsu, et al.
Children (Basel, Switzerland)|November 27, 2025
From Overgrowth to Complex Malformations: A Novel EZH2 Variant Reveals the Expanding Clinical Spectrum of Weaver SyndromeChung-Lin Lee, Chih-Kuang Chuang, Huei-Ching Chiu, et al.
Molecular Genetics and Metabolism|March 6, 2014
Assessment of hearing loss by pure-tone audiometry in patients with mucopolysaccharidosesHsiang-Yu Lin, Shou-Chuan Shih, Chih-Kuang Chuang, et al.
International Journal of Molecular Sciences|March 14, 2026
Skipping the Biopsy: Real-World Experience of Whole-Exome Sequencing as First-Tier Testing in Pediatric Muscular DisordersChung-Lin Lee, Ya-Hui Chang, Chih-Kuang Chuang, et al.
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