Author
Human Longevity (United States)ORCID 0000-0002-6109-7390Unclaimed ORCID profile · follow to get notified of new preprints
3 papers
Recent·Most cited
Erle M. Holgersen, Shreshth Gandhi, Yongchao Zhou…·Amit G. Deshwar
This study evaluates off-target effects of steric-blocking oligonucleotides using RNA-seq and finds that in silico methods have limited utility for predicting these effects.
Daniele Merico, Carl Spickett, Matthew O’Hara…·Brendan J. Frey
This paper shows that the ATP7B variant c.1934T>G causes exon 6 skipping, leading to loss of function and confirming its pathogenicity in Wilson Disease.
William M. Brandler, Danny Antaki, Madhusudan Gujral…·Jonathan L. Sebat
This study identifies rare paternally-inherited structural variants contributing to autism by disrupting noncoding regions and coding genes, with differential parental contributions.