Stephanie Y. Yang

Mechanical cues organize planar cell polarity during vertebrate morphogenesis and embryonic wound repair

The paper shows that ADIP and Diversin form a mechanosensitive complex involved in planar cell polarity during morphogenesis and wound repair in Xenopus embryos.

Whole-exome sequencing in 415,422 individuals identifies rare variants associated with mitochondrial DNA copy number

Rare instances of non-random dropout with the monochrome multiplex qPCR assay for mitochondrial DNA copy number

The paper identifies specific polymorphisms in the D-loop primer region that cause non-random dropout in a monochrome multiplex qPCR assay for mitochondrial DNA copy number.

Blood-derived mitochondrial DNA copy number is associated with gene expression across multiple tissues and is predictive for incident neurodegenerative disease

Genetic analysis of mitochondrial DNA copy number and associated traits identifies loci implicated in nucleotide metabolism, platelet activation, and megakaryocyte proliferation, and reveals a causal association of mitochondrial function with mortality

This study identifies 100 loci associated with mitochondrial DNA copy number and finds causal links between mitochondrial function and mortality.

An integrated multi-omic analysis of iPSC-derived motor neurons from C9ORF72 ALS patients

The paper performs an integrated multi-omic analysis of iPSC-derived motor neurons from C9ORF72 ALS patients to identify dysregulated pathways and validate them in vivo and in postmortem data.

Mitochondrial DNA Copy Number and Incident Atrial Fibrillation

This study investigates the association between mitochondrial DNA copy number and risk of atrial fibrillation in three cohorts, finding an inverse relationship after adjustment for traditional risk factors.

Evaluation of mitochondrial DNA copy number estimation techniques

This study evaluates methods for estimating mitochondrial DNA copy number, finding that whole genome sequencing provides more accurate associations with known correlates than qPCR or microarray platforms.

Basal Contamination of Sequencing: Lessons from the GTEx dataset

The paper identifies basal contamination in GTEx data, showing that highly expressed tissue-specific genes contaminate samples, affecting eQTL assignments and analysis accuracy.