Chih‐Wei Hsu

Biallelic Variants in KMO Cause a Novel Form of Congenital NAD Deficiency

The paper identifies biallelic KMO variants as a novel cause of congenital NAD deficiency and shows gene x environment interactions in a mouse model.

Uncovering Phenotypic Expansion in AXIN2-Related Disorders Using Precision Animal Modeling

The paper identifies novel AXIN2 variants causing expanded phenotypes in humans and validates their pathogenicity using human, mouse, and fly models.

Optimization of Tissue Clearing Methods and Imaging Conditions for 3D Visualization of the Vasculature of the Adult Murine Knee

This study optimizes tissue clearing and imaging methods to achieve high-resolution 3D visualization of the vasculature in adult murine knee tissues.

Plasticity and Language in the Anesthetized Human Hippocampus

This study shows that the human hippocampus can process oddball tones and language stimuli, including semantic and grammatical features, even under general anesthesia.

A Comprehensive Atlas of AAV Tropism in the Mouse

This paper maps the tissue tropism of ten AAV serotypes in mice after systemic delivery, identifying liver preference and unexpected transduction in adrenals, testes, and ovaries.

Mendelian gene identification through mouse embryo viability screening

The paper identifies novel Mendelian genes by analyzing mouse embryo lethality and linking them to human disease phenotypes and genetic variants.

EZ Clear for simple, rapid, and robust mouse whole organ clearing

EZ Clear provides a simple, rapid, and robust method for clearing whole adult mouse organs, preserving fluorescence and enabling downstream analysis.

Human and mouse essentiality screens as a resource for disease gene discovery

The paper integrates gene essentiality data from human and mouse screens to classify genes into FUSIL categories, identifying developmental lethal genes associated with rare diseases.

Soft Windowing Application to Improve Analysis of High-throughput Phenotyping Data

The paper introduces a method called soft windowing to improve analysis of high-throughput phenotyping data by reducing false positives and increasing significant results.