Estimating the effects of variants found in disease driver genes opens the door to
personalized therapeutic opportunities. Clinical associations and laboratory experiments …

GRIA1 encodes the GluA1 subunit of α-amino-3-hydroxy-5-methyl-4-isoxazole propionate
(AMPA) receptors, which are ligand-gated ion channels that act as excitatory receptors for …

Since antibiotic development lags, we search for potential drug targets through directed
evolution experiments. A challenge is that many resistance genes hide in a noisy mutational …

The incidence of Alzheimer's Disease in females is almost double that of males. To search
for sex-specific gene associations, we build a machine learning approach focused on …

Most disease-gene association methods do not account for gene-gene interactions, even
though these play a crucial role in complex, polygenic diseases like Alzheimer's disease …

There are hundreds of risk genes associated with autism spectrum disorder (ASD), but
signaling networks at the protein level remain unexplored. We use neuron-specific proximity …

In a patient diagnosed with both Kallmann syndrome (KS) and intellectual disability (ID),
who carried an apparently balanced translocation t (7; 12)(q22; q24) dn, array comparative …

Epidemiological studies suggest that individuals with neurodevelopmental disorders (NDDs)
are more prone to develop certain types of cancer. Notably, however, the case statistics can …

Background Cisplatin (CDDP) is a mainstay treatment for advanced head and neck
squamous cell carcinomas (HNSCC) despite a high frequency of innate and acquired …

Pendrin and prestin are evolutionary-conserved membrane proteins that are essential for
normal hearing. Dysfunction of these proteins results in hearing loss in humans, and …