Jun-yi Wu
No. 92, Sec. 2, Zhongshan N. Rd, Taipei 104217
TPQ 10421, Taiwan
TPQ 10421, Taiwan
Last Updated: 09/26/2026
Save publications for later
Sign Up
Not sure about your diagnosis?
Check Your Symptoms
Found 13 publications
From Genotype to Cardiac Phenotype: Cardiovascular Involvement in Syndromic and Metabolic Disorders.
From Genotype to Cardiac Phenotype: Cardiovascular Involvement in Syndromic and Metabolic Disorders.
Journal: International journal of molecular sciences
Published: July 09, 2026
Autophagy-Lysosomal Dysfunction as a Converging Mechanism of Cardiomyopathy in Lysosomal Storage Disorders: From Pathobiology to Targeted Therapy.
Journal: International journal of molecular sciences
Published: June 23, 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 Syndrome.
Journal: Diagnostics (Basel, Switzerland)
Published: May 31, 2026
Skipping the Biopsy: Real-World Experience of Whole-Exome Sequencing as First-Tier Testing in Pediatric Muscular Disorders.
Journal: International journal of molecular sciences
Published: February 14, 2026
Case Report: Novel ADAMTSL2 compound heterozygous mutations in geleophysic dysplasia with bilateral glaucoma and keratoconus-like corneal ectasia.
Journal: Frontiers in genetics
Published: November 22, 2025
From Overgrowth to Complex Malformations: A Novel EZH2 Variant Reveals the Expanding Clinical Spectrum of Weaver Syndrome.
Journal: Children (Basel, Switzerland)
Published: September 25, 2025
Nationwide newborn screening for mucopolysaccharidoses in Taiwan: Impact, early diagnosis, and clinical advances over the past decade.
Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: July 03, 2025
Functional Independence of Taiwanese Children with Silver-Russell Syndrome.
Journal: Diagnostics (Basel, Switzerland)
Published: March 22, 2025
Systematic Analysis of Multiple Imaging Modalities in Infants Diagnosed with Mucopolysaccharidosis by Newborn Screening.
Journal: Diagnostics (Basel, Switzerland)
Published: February 18, 2025
Review of CO2 extraction from seawater through non-electrochemical and electrochemical approaches.
Journal: Marine pollution bulletin
Published: November 08, 2024
Implementation of newborn screening for mucopolysaccharidosis type IVA and long-term monitoring in Taiwan.
Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: July 09, 2024
Selective leaching process for the recovery of copper and zinc oxide from copper-containing dust.
Journal: Environmental technology
Published: September 06, 2014
Last Updated: 09/26/2026