Common variant approaches to study Mendelian disease gene function identify novel phenome and pathways associated with PLOD3
Alexandra Scalici, James T. Baker, Freida Blostein…·Nancy Jean Cox
Author
Vanderbilt UniversityORCID 0000-0003-3529-7791Unclaimed ORCID profile · follow to get notified of new preprints
3 papers
Recent·Most cited
Alexandra Scalici, James T. Baker, Freida Blostein…·Nancy Jean Cox
Megan Cummins Lancaster, Hung‐Hsin Chen, Moore Benjamin Shoemaker…·Jennifer Elizabeth Below
This paper develops a method to identify undiagnosed carriers of a rare Mendelian disease variant by detecting distant familial relatedness in biobanks.
Gaurav Bedse, Nathan D. Winters, Anastasia A. Astafyev…·Sachin Patel
This study shows that inhibiting diacylglycerol lipase reduces alcohol consumption in preclinical models and prevents ethanol-induced suppression of GABAergic transmission without causing anxiety or depression.