Shuan-Pei Lin

45PUBLICATIONS
31CO-AUTHORS
Medical biochemistry - inorganic elements and compoundsCardiology (incl. cardiovascular diseases)GenomicsNeonatologyMedical biotechnology diagnostics (incl. biosensors)
Featured researcher

Get your video featured.

JoVEPublish with JoVE
Journal

Publications (45)

|Oct 27, 2026
Multi-Locus Molecular Findings in Pediatric-Onset Inherited Metabolic Disorders: An Eight-Year Series of Outsourced Genomic Testing in Taiwan.

|Aug 27, 2026
From Genotype to Cardiac Phenotype: Cardiovascular Involvement in Syndromic and Metabolic Disorders.

|Jul 28, 2026
Autophagy-Lysosomal Dysfunction as a Converging Mechanism of Cardiomyopathy in Lysosomal Storage Disorders: From Pathobiology to Targeted Therapy.

|Jul 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 Syndrome.

|Jun 26, 2026
A Rare Coexistence of Biliary Atresia and Alagille Syndrome in a Neonate: Clinical Implications of Dual Etiology in Neonatal Cholestasis.

|Mar 14, 2026
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

Pageof 8

Frequent Collaborators

32 joint publications

Chih-Kuang Chuang

23 joint publications

Chung-Lin Lee

5 joint publications

Yu-Min Syu

4 joint publications

Hung-Hsiang Fang