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Truncating variants in the SHANK1 gene are associated with a spectrum of neurodevelopmental disorders.
May HJ, Jeong J, Revah-Politi A, Cohen JS, Chassevent A, Baptista J, Baugh EH, Bier L, Bottani A, Carminho A Rodrigues MT, Conlon C, Fluss J, Guipponi M, Kim CA, Matsumoto N, Person R, Primiano M, Rankin J, Shinawi M, Smith-Hicks C, Telegrafi A, Toy S, Uchiyama Y, Aggarwal V, Goldstein DB, Roche KW, Anyane-Yeboa K. May HJ, et al. Among authors: roche kw. Genet Med. 2021 Oct;23(10):1912-1921. doi: 10.1038/s41436-021-01222-w. Epub 2021 Jun 10. Genet Med. 2021. PMID: 34113010 Free PMC article.
PSD-95 binding dynamically regulates NLGN1 trafficking and function.
Jeong J, Pandey S, Li Y, Badger JD 2nd, Lu W, Roche KW. Jeong J, et al. Among authors: roche kw. Proc Natl Acad Sci U S A. 2019 Jun 11;116(24):12035-12044. doi: 10.1073/pnas.1821775116. Epub 2019 May 28. Proc Natl Acad Sci U S A. 2019. PMID: 31138690 Free PMC article.
DLG2 variants in patients with pubertal disorders.
Jee YH, Won S, Lui JC, Jennings M, Whalen P, Yue S, Temnycky AG, Barnes KM, Cheetham T, Boden MG, Radovick S, Quinton R, Leschek EW, Aguilera G, Yanovski JA, Seminara SB, Crowley WF, Delaney A, Roche KW, Baron J. Jee YH, et al. Among authors: roche kw. Genet Med. 2020 Aug;22(8):1329-1337. doi: 10.1038/s41436-020-0803-8. Epub 2020 Apr 28. Genet Med. 2020. PMID: 32341572 Free PMC article.
Neuroligins and Neurodevelopmental Disorders: X-Linked Genetics.
Nguyen TA, Lehr AW, Roche KW. Nguyen TA, et al. Among authors: roche kw. Front Synaptic Neurosci. 2020 Aug 11;12:33. doi: 10.3389/fnsyn.2020.00033. eCollection 2020. Front Synaptic Neurosci. 2020. PMID: 32848696 Free PMC article. Review.
104 results