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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. Hum Mol Genet. 2023 Oct 17;32(21):3063-3077. doi: 10.1093/hmg/ddad130. Hum Mol Genet. 2023. PMID: 37552066 Free PMC article.
Beyond the symptom: the biology of fatigue.
Raizen DM, Mullington J, Anaclet C, Clarke G, Critchley H, Dantzer R, Davis R, Drew KL, Fessel J, Fuller PM, Gibson EM, Harrington M, Ian Lipkin W, Klerman EB, Klimas N, Komaroff AL, Koroshetz W, Krupp L, Kuppuswamy A, Lasselin J, Lewis LD, Magistretti PJ, Matos HY, Miaskowski C, Miller AH, Nath A, Nedergaard M, Opp MR, Ritchie MD, Rogulja D, Rolls A, Salamone JD, Saper C, Whittemore V, Wylie G, Younger J, Zee PC, Craig Heller H. Raizen DM, et al. Sleep. 2023 Sep 8;46(9):zsad069. doi: 10.1093/sleep/zsad069. Sleep. 2023. PMID: 37224457 Review.