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De novo truncating variants in the intronless IRF2BPL are responsible for developmental epileptic encephalopathy.
Tran Mau-Them F, Guibaud L, Duplomb L, Keren B, Lindstrom K, Marey I, Mochel F, van den Boogaard MJ, Oegema R, Nava C, Masurel A, Jouan T, Jansen FE, Au M, Chen AH, Cho M, Duffourd Y, Lozier E, Konovalov F, Sharkov A, Korostelev S, Urteaga B, Dickson P, Vera M, Martínez-Agosto JA, Begemann A, Zweier M, Schmitt-Mechelke T, Rauch A, Philippe C, van Gassen K, Nelson S, Graham JM Jr, Friedman J, Faivre L, Lin HJ, Thauvin-Robinet C, Vitobello A. Tran Mau-Them F, et al. Among authors: dickson p. Genet Med. 2019 Apr;21(4):1008-1014. doi: 10.1038/s41436-018-0143-0. Epub 2018 Aug 31. Genet Med. 2019. PMID: 30166628 Free article.
ETHE1 mutations are specific to ethylmalonic encephalopathy.
Tiranti V, Briem E, Lamantea E, Mineri R, Papaleo E, De Gioia L, Forlani F, Rinaldo P, Dickson P, Abu-Libdeh B, Cindro-Heberle L, Owaidha M, Jack RM, Christensen E, Burlina A, Zeviani M. Tiranti V, et al. Among authors: dickson p. J Med Genet. 2006 Apr;43(4):340-6. doi: 10.1136/jmg.2005.036210. Epub 2005 Sep 23. J Med Genet. 2006. PMID: 16183799 Free PMC article.
Loss of function of FAM177A1, a Golgi complex localized protein, causes a novel neurodevelopmental disorder.
Kohler JN, Legro NR, Baldridge D, Shin J, Bowman A, Ugur B, Jackstadt MM, Shriver LP, Patti GJ, Zhang B, Feng W, McAdow AR, Goddard P, Ungar RA, Jensen T, Smith KS, Fresard L, Alvarez R, Bonner D, Reuter CM, McCormack C, Kravets E, Marwaha S, Holt JM; Undiagnosed Diseases Network; Worthey E, Ashley EA, Montgomery SB, Fisher P, Postlethwait J, De Camilli P, Solnica-Krezel L, Bernstein JA, Wheeler MT. Kohler JN, et al. Genet Med. 2024 May 16:101166. doi: 10.1016/j.gim.2024.101166. Online ahead of print. Genet Med. 2024. PMID: 38767059
Identification and characterization of a nonbiological small-molecular mimic of a Zika virus conformational neutralizing epitope.
Castanha PMS, McEnaney PJ, Park Y, Bouwer A, Chaves EJF, Lins RD, Paciaroni NG, Dickson P, Carlson G, Cordeiro MT, Magalhaes T, Craigo J, Marques ETA, Kodadek T, Burke DS. Castanha PMS, et al. Among authors: dickson p. Proc Natl Acad Sci U S A. 2024 May 21;121(21):e2312755121. doi: 10.1073/pnas.2312755121. Epub 2024 May 14. Proc Natl Acad Sci U S A. 2024. PMID: 38743628 Free PMC article.
395 results