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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: silverman ga. Hum Mol Genet. 2023 Oct 17;32(21):3063-3077. doi: 10.1093/hmg/ddad130. Hum Mol Genet. 2023. PMID: 37552066 Free PMC article.
Using Caenorhabditis elegans to study serpinopathies.
Long OS, Gosai SJ, Kwak JH, King DE, Perlmutter DH, Silverman GA, Pak SC. Long OS, et al. Among authors: silverman ga. Methods Enzymol. 2011;499:259-81. doi: 10.1016/B978-0-12-386471-0.00013-4. Methods Enzymol. 2011. PMID: 21683258 Free PMC article.
C. elegans in high-throughput drug discovery.
O'Reilly LP, Luke CJ, Perlmutter DH, Silverman GA, Pak SC. O'Reilly LP, et al. Among authors: silverman ga. Adv Drug Deliv Rev. 2014 Apr;69-70:247-53. doi: 10.1016/j.addr.2013.12.001. Epub 2013 Dec 12. Adv Drug Deliv Rev. 2014. PMID: 24333896 Free PMC article. Review.
134 results