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De novo missense variants in exon 9 of SEPHS1 cause a neurodevelopmental condition with developmental delay, poor growth, hypotonia, and dysmorphic features.
Mullegama SV, Kiernan KA, Torti E, Pavlovsky E, Tilton N, Sekula A, Gao H, Alaimo JT, Engleman K, Rush ET, Blocker K, Dipple KM, Fettig VM, Hare H, Glass I, Grange DK, Griffin M, Phornphutkul C, Massingham L, Mehta L, Miller DE, Thies J, Merritt JL 2nd, Muller E 2nd, Osmond M, Sawyer SL, Slaugh R, Hickey RE, Wolf B; Care4Rare Canada Consortium; Undiagnosed Diseases Network; Choudhary S, Simonović M, Zhang Y, Palculict TB, Telegrafi A, Carere DA, Wentzensen IM, Morrow MM, Monaghan KG, Yang J, Juusola J. Mullegama SV, et al. Among authors: yang j. Am J Hum Genet. 2024 Apr 4;111(4):778-790. doi: 10.1016/j.ajhg.2024.02.016. Epub 2024 Mar 25. Am J Hum Genet. 2024. PMID: 38531365 Free PMC article.
Targeting a chemo-induced adaptive signaling circuit confers therapeutic vulnerabilities in pancreatic cancer.
Saito Y, Xiao Y, Yao J, Li Y, Liu W, Yuzhalin AE, Shyu YM, Li H, Yuan X, Li P, Zhang Q, Li Z, Wei Y, Yin X, Zhao J, Kariminia SM, Wu YC, Wang J, Yang J, Xia W, Sun Y, Jho EH, Chiao PJ, Hwang RF, Ying H, Wang H, Zhao Z, Maitra A, Hung MC, DePinho RA, Yu D. Saito Y, et al. Among authors: yang j. Cell Discov. 2024 Oct 29;10(1):109. doi: 10.1038/s41421-024-00720-w. Cell Discov. 2024. PMID: 39468013 Free PMC article.
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