Search Results - "Charron, Jacob"

N‐methyl‐d‐aspartate (NMDA) receptor genetics: The power of paralog homology and protein dynamics in defining dominant genetic variants by Charron, Jacob G., Hernandez, Angel, Bilinovich, Stephanie M., Vogt, Daniel L., Bedinger, Laura A., Seaver, Laurie H., Williams, Michael, Devries, Seth, Campbell, Daniel B., Bupp, Caleb P., Prokop, Jeremy W.

“…Predicting genotype‐to‐phenotype correlations from genomic variants has been challenging, particularly for genes that have a complex balance of dominant and…”
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SLC6A1 G443D associated with developmental delay and epilepsy by Devries, Seth, Mulder, Monica, Charron, Jacob G., Prokop, Jeremy W., Mark, Paul R.

“…SLC6A1 is associated with an autosomal dominant early-onset seizure and epileptic encephalopathy associated with intellectual disability. We present a 2-yr-old…”
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SARS-CoV-2 (COVID-19) structural and evolutionary dynamicome: Insights into functional evolution and human genomics by Gupta, Ruchir, Charron, Jacob, Stenger, Cynthia L., Painter, Jared, Steward, Hunter, Cook, Taylor W., Faber, William, Frisch, Austin, Lind, Eric, Bauss, Jacob, Li, Xiaopeng, Sirpilla, Olivia, Soehnlen, Xavier, Underwood, Adam, Hinds, David, Morris, Michele, Lamb, Neil, Carcillo, Joseph A., Bupp, Caleb, Uhal, Bruce D., Rajasekaran, Surender, Prokop, Jeremy W.

“…The pandemic caused by severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) has challenged the speed at which laboratories can discover the viral…”
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