Cecilia W. Y. Lo

This paper introduces 4D Oxy-wavelet MRI to non-invasively assess mitochondrial function in living brains across the lifespan, validated in mouse models and with human feasibility data.

This study shows that Ift43 regulates Gli2 and Gli3 levels in cilia, affecting Hedgehog signaling and causing developmental defects in mice.

The paper analyzes PTCs in CHD patients to identify genes and pathways contributing to an oligogenic etiology of congenital heart disease.

The paper identifies trans-heterozygous digenic variants in laterality defect genes using exome/genome sequencing data from CHD cohorts, finding significant enrichment in laterality cases compared to controls.

This study identifies mitotic block and epigenetic repression as causes of neurodevelopmental defects and neurobehavioral deficits in congenital heart disease using mouse models.

Maternal administration of mitochondrial-targeted JP4-039 mitigates fetal brain injury and preserves mitochondrial function after mid-gestation radiation exposure.

aenmd annotates PTC-containing transcript-variant pairs for predicted NMD escape, identifying variants that may cause dominant-negative or gain-of-function effects.

The paper investigates the role of sap130a in zebrafish heart development, showing it regulates SHF cell accretion and maturation, leading to ventricular hypoplasia.

This study identifies IFT74 variants causing skeletal ciliopathy and motile cilia defects in humans and mice, revealing functional differences between motile and primary cilia.

This study investigates the role of cilia in structural birth defects by analyzing Ift140 deficiency in mice, revealing both cell autonomous and non-cell autonomous mechanisms in craniofacial and heart development.

The paper identifies metabolic regulation in left-right patterning using spatial transcriptome data, linking glycolysis and Bmp7 to heart and gut looping.

This study shows that proteolysis of fibrillin-2 by ADAMTS6 is essential for normal skeletal development, as its absence leads to skeletal defects and reduced aggrecan and cartilage link protein.

The paper shows that mispatterning of cilia-generated flow in the brain ventricles contributes to epilepsy and seizure susceptibility.

The paper shows that gene-teratogen interactions affect birth defect penetrance by altering Hedgehog signaling through the MMM complex and SMO degradation.

This study identifies a ubiquitin-based genetic mechanism linking Megf8 and Mgrn1 mutations to congenital heart defects and heterotaxy through altered Hedgehog signaling.

The paper shows myosin 1d is essential for establishing left-right asymmetry in zebrafish through actin-myosin driven chirality.