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Macrocephaly and developmental delay caused by missense variants in RAB5C.
Koop K, Yuan W, Tessadori F, Rodriguez-Polanco WR, Grubbs J, Zhang B, Osmond M, Graham G, Sawyer S, Conboy E, Vetrini F, Treat K, Płoski R, Pienkowski VM, Kłosowska A, Fieg E, Krier J, Mallebranche C, Alban Z, Aldinger KA, Ritter D, Macnamara E, Sullivan B, Herriges J, Alaimo JT, Helbig C, Ellis CA, van Eyk C, Gecz J, Farrugia D, Osei-Owusu I, Adès L, van den Boogaard MJ, Fuchs S, Bakker J, Duran K, Dawson ZD, Lindsey A, Huang H, Baldridge D, Silverman GA, Grant BD, Raizen D; Undiagnosed Diseases Network; van Haaften G, Pak SC, Rehmann H, Schedl T, van Hasselt P. Koop K, et al. Among authors: raizen d. Hum Mol Genet. 2023 Oct 17;32(21):3063-3077. doi: 10.1093/hmg/ddad130. Hum Mol Genet. 2023. PMID: 37552066 Free PMC article.
Regulation of sleep by KIN-29 is not developmental.
Grubbs JJ, van der Linden AM, Raizen DM. Grubbs JJ, et al. MicroPubl Biol. 2020 May 7;2020:10.17912/micropub.biology.000247. doi: 10.17912/micropub.biology.000247. MicroPubl Biol. 2020. PMID: 32550493 Free PMC article. No abstract available.
Sleep: AMPs Mediate Injury-Induced Lethargy.
Grubbs JJ, Raizen DM. Grubbs JJ, et al. Curr Biol. 2021 Feb 8;31(3):R131-R133. doi: 10.1016/j.cub.2020.11.048. Curr Biol. 2021. PMID: 33561412 Free article.
Behavioral States.
Flavell SW, Raizen DM, You YJ. Flavell SW, et al. Genetics. 2020 Oct;216(2):315-332. doi: 10.1534/genetics.120.303539. Genetics. 2020. PMID: 33023930 Free PMC article. Review.
Worms sleep: a perspective.
Raizen D. Raizen D. J Neurogenet. 2020 Sep-Dec;34(3-4):427-429. doi: 10.1080/01677063.2020.1833007. J Neurogenet. 2020. PMID: 33446018 Free PMC article. Review.
77 results