Kavli Affiliate: Jin Kang | Authors: McSweeney, Rafael Gabriel, Kang Jin, Zhiping P. Pang, Bruce Aronow and ChangHui Pak | Summary: Loss-of-function (LOF) mutations in CASK cause severe developmental phenotypes, including microcephaly with pontine and cerebellar hypoplasia, X-linked intellectual disability, and autism. Unraveling the pathogenesis of CASK-related disorders has been challenging due to limited human […]

Kavli Affiliate: Donald Geman, Laurent Younes | Authors: Mohamed Omar, Wikum Dinalankara, Lotte Mulder, Tendai Coady, Claudio Zanettini, Eddie Luidy Imada, Laurent Younes, Donald Geman and Luigi Marchionni | Summary: Abstract Many gene signatures have been developed by applying machine learning (ML) on omics profiles, however, their clinical utility is often hindered by limited interpretability […]

Kavli Affiliate: Loyal Goff | Authors: Subhash Kulkarni, Monalee Saha, Alpana Singh, Jared Slosberg, Sushma Nagaraj, Laren S Becker, Chengxiu Zhang, Alicia Bukowski, Zhuolun Wang, Guosheng Liu, Jenna Leser, Mithra Kumar, Shriya Bakhshi, Matthew J Anderson, Mark Lewandoski, Elizabeth Vincent, Loyal Goff and Pankaj Jay Pasricha | Summary: Abstract The enteric nervous system (ENS), a […]