Citations for
1MCAND, OTUD5
OTUD5 Variants Associated With X-Linked Intellectual Disability and Congenital Malformation.
Saida K, Fukuda T, Scott DA, Sengoku T, Ogata K, Nicosia A, Hernandez-Garcia A, Lalani SR, Azamian MS, Streff H, Liu P, Dai H, Mizuguchi T, Miyatake S, Asahina M, Ogata T, Miyake N, Matsumoto N.
Front Cell Dev Biol. Mar 3;9:631428. doi: 10.3389/fcell.2021.631428. 2021
2MCAND, OTUD5
Linkage-specific deubiquitylation by OTUD5 defines an embryonic pathway intolerant to genomic variation
Beck DB, Basar MA, Asmar AJ, Thompson JJ, Oda H, Uehara DT, Saida K, Pajusalu S, Talvik I, D'Souza P, Bodurtha J, Mu W, Barañano KW, Miyake N, Wang R, Kempers M, Tamada T, Nishimura Y, Okada S, Kosho T, Dale R, Mitra A, Macnamara E; Undiagnosed Diseases Network, Matsumoto N, Inazawa J, Walkiewicz M, Õunap K, Tifft CJ, Aksentijevich I, Kastner DL, Rocha PP, Werner A.
Sci Adv. Jan 20;7(4):eabe2116. doi: 10.1126/sciadv.abe2116 2021
3MCAND, OTUD5
An X-linked syndrome with severe neurodevelopmental delay, hydrocephalus, and early lethality caused by a missense variation in the OTUD5 gene.
Tripolszki K, Sasaki E, Hotakainen R, Kassim AH, Pereira C, Rolfs A, Bauer P, Reardon W, Bertoli-Avella AM.
Clin Genet. Feb;99(2):303-308. doi: 10.1111/cge.13873. Epub 2020 Nov 9 2021