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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: fuchs s. Hum Mol Genet. 2023 Oct 17;32(21):3063-3077. doi: 10.1093/hmg/ddad130. Hum Mol Genet. 2023. PMID: 37552066 Free PMC article.
In vivo evolution of env in SHIV-AD8EO-infected rhesus macaques after AAV-vectored delivery of eCD4-Ig.
O'Hagan D, Shandilya S, Hopkins LJ, Hahn PA, Fuchs SP, Martinez-Navio JM, Alpert MD, Gardner MR, Desrosiers RC, Gao G, Lifson JD, Farzan M, Ardeshir A, Martins MA. O'Hagan D, et al. Among authors: fuchs sp. Mol Ther. 2024 Dec 12:S1525-0016(24)00814-1. doi: 10.1016/j.ymthe.2024.12.015. Online ahead of print. Mol Ther. 2024. PMID: 39673132 Free article.
A combination of long- and short-read genomics reveals frequent p-arm breakpoints within chromosome 21 complex genomic rearrangements.
Schuy J, Sæther KB, Lisfeld J, Ek M, Grochowski CM, Lun MY, Hastie A, Rudolph S, Fuchs S, Neveling K, Hempel M, Hoischen A, Pettersson M, Carvalho CMB, Eisfeldt J, Lindstrand A. Schuy J, et al. Among authors: fuchs s. Genet Med Open. 2024 Jun 28;2:101863. doi: 10.1016/j.gimo.2024.101863. eCollection 2024. Genet Med Open. 2024. PMID: 39669604 Free PMC article.
Isoleucine-to-valine substitutions support cellular physiology during isoleucine deprivation.
Kok G, Schene IF, Ilcken EF, Alcaraz PS, Mendes MI, Smith DEC, Salomons G, Shehata S, Jans JJM, Maroofian R, Hoek TA, van Es RM, Rehmann H, Nieuwenhuis EES, Vos HR, Fuchs SA. Kok G, et al. Among authors: fuchs sa. Nucleic Acids Res. 2024 Dec 9:gkae1184. doi: 10.1093/nar/gkae1184. Online ahead of print. Nucleic Acids Res. 2024. PMID: 39657787
Accelerated production of human epithelial organoids in a miniaturized spinning bioreactor.
Ye S, Marsee A, van Tienderen GS, Rezaeimoghaddam M, Sheikh H, Samsom RA, de Koning EJP, Fuchs S, Verstegen MMA, van der Laan LJW, van de Vosse F, Malda J, Ito K, Spee B, Schneeberger K. Ye S, et al. Among authors: fuchs s. Cell Rep Methods. 2024 Nov 18;4(11):100903. doi: 10.1016/j.crmeth.2024.100903. Cell Rep Methods. 2024. PMID: 39561715 Free article.
(Bio)degradation of biopolymer and biocomposite in deep-sea environments.
Chamley A, Baley C, Gayet N, Sarrazin J, Fuchs S, Freyermouth F, Davies P. Chamley A, et al. Among authors: fuchs s. Mar Pollut Bull. 2024 Dec;209(Pt B):117230. doi: 10.1016/j.marpolbul.2024.117230. Epub 2024 Nov 12. Mar Pollut Bull. 2024. PMID: 39536368 Free article.
1,985 results