Abstract Tumor suppressor candidate 3 is an integral component of the oligosaccharyltransferase complex and is required for the N-glycosylation of proteins. While tumor suppressor candidate 3 has been implicated in cancer and autosomal recessive non-syndromic intellectual disability, some patients also exhibit distinct...
P. Iyyanar, Andrew M. Vontell, Ammar Husami et al.· G3· 0 citations
A novel role for Ctbp1 is uncovered in craniofacial development and the complex genetic and molecular signaling in the pathogenesis of craniofacial malformations is highlighted.
P. Iyyanar, Beulah Solivio, K. Weaver et al.· bioRxiv· 0 citations
The cohort highlights novel findings, including the co-occurrence of AD LZTR1-NS with 22q11.2 deletion and two patients with AR NS with features suggestive of schwannomatosis, which expand the clinical spectrum of LZTR1-NS and have important implications for diagnosis, surveillance, and genetic counseling.
H. Jaouadi, Şakir Hicazi, Carolyn R. Raski et al.· American Journal of Medical...· 0 citations
DNA methylation analysis revealed epigenetic differences between CHD and NDD patients, with CHD patients showing elevated biological age acceleration and the findings highlight the diagnostic and mechanistic value of integrative multiomic profiling in paediatric developmental disease cohorts.
Jamie-Lee M. Thompson, Yun-Kai Gao, Eri Iwasawa et al.· Human Mutation· 0 citations
We use cookies to run the site and, with your consent, for analytics and to show ads.
See our Cookie Policy.