Xiaomei Luo
1665 Kong Jiang Road
Shanghai, 200092, China
Shanghai, 200092, China
Last Updated: 09/26/2026
Save publications for later
Sign Up
Not sure about your diagnosis?
Check Your Symptoms
Found 22 publications
Technical Considerations for Blood RNA Sequencing in Genetic Testing: Evaluation of Globin Depletion Methods, Batch Effects, and Sample Types.
Journal: Annals of laboratory medicine
Published: July 28, 2025
Low-dose AAV9-SMN1 with CNS-selective expression delivers efficacy and favorable safety in spinal muscular atrophy.
Journal: Molecular therapy : the journal of the American Society of Gene Therapy
Published: July 19, 2025
Blood RNA-seq in rare disease diagnostics: a comparative study of cases with and without candidate variants.
Journal: Journal of translational medicine
Published: March 14, 2025
Additional Diagnostic Yield through the Analysis of Short Tandem Repeats Based on Exome Sequencing Data.
Journal: The Journal of molecular diagnostics : JMD
Published: February 08, 2025
Combining optical genome mapping and RNA-seq for structural variants detection and interpretation in unsolved neurodevelopmental disorders.
Journal: Genome medicine
Published: March 11, 2024
Long-Read Sequencing Solves Complex Structure of CYP21A2 in a Large 21-Hydroxylase Deficiency Cohort.
Journal: The Journal of clinical endocrinology and metabolism
Published: March 07, 2024
Integrating multi-index determination coupled with hierarchical cluster analysis to evaluate the quality consistency of PVE30, an anti-HSV "glycoprotein" macromolecule of Prunellae Spica.
Journal: Phytochemical analysis : PCA
Published: August 21, 2023
Deep Intronic PAH Variants Explain Missing Heritability in Hyperphenylalaninemia.
Journal: The Journal of molecular diagnostics : JMD
Published: November 21, 2022
Improving variant prioritization in exome analysis by entropy-weighted ensemble of multiple tools.
Journal: Clinical genetics
Published: August 08, 2022
Polyphenolic-protein-polysaccharide conjugates from Spica of Prunella vulgaris: Chemical profile and anti-herpes simplex virus activities.
Journal: International journal of biological macromolecules
Published: August 19, 2021
Clinical, genetic profile and therapy evaluation of 55 children and 5 adults with sitosterolemia.
Journal: Journal of clinical lipidology
Published: August 05, 2021
Last Updated: 09/26/2026