Author
Regeneron (United States)
Listed by name: these papers carry no ORCID for this author, so different people with the same name may be mixed together.
Mutual co-authors in cluster
4 papers
Recent·Most cited
Veera Manikandan Rajagopal, Kyoko Watanabe, Joelle S. Mbatchou…·Giovanni Coppola
The paper identifies rare coding variants in CHRNB2 associated with reduced smoking likelihood and links them to downstream smoking-related phenotypes.
Kavita Praveen, Lee Dobbyn, Lauren Gurski…·Joe Burns
This study identifies 53 genetic loci associated with hearing loss, including 15 novel ones, using genome-wide and exome-sequencing data from multiple cohorts.
Cristopher V. Van Hout, Ioanna Tachmazidou, Joshua Backman…·Aris Baras
Exomes of 49,960 UK Biobank participants reveal 231,631 predicted loss-of-function variants (>10-fold more than imputed data); burden tests implicate PIEZO1, MEPE, and COL6A1 in disease traits.
Eric L. Garcia, Ying Wen, Kavita Praveen, A. Gregory Matera
This study compares transcriptomic changes in Drosophila snRNP biogenesis mutants to identify snRNP-dependent and Smn-specific RNA processing defects, finding differences between hypomorphic and complete loss-of-function Smn mutants.