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Biallelic variants in GTF3C3 result in an autosomal recessive disorder with intellectual disability.
De Hayr L, Blok LER, Dias KR, Long J, Begemann A, Moir RD, Willis IM, Mocera M, Siegel G, Steindl K, Evans CA, Zhu Y, Zhang F, Field M, Ma A, Adès L, Josephi-Taylor S, Pfundt R, Zaki MS, Tomoum H, Gregor A, Laube J, Reis A, Maddirevula S, Hashem MO, Zweier M, Alkuraya FS, Maroofian R, Buckley MF, Gleeson JG, Zweier C, Coll-Tané M, Koolen DA, Rauch A, Roscioli T, Schenck A, Harvey RJ. De Hayr L, et al. Among authors: laube j. Genet Med. 2024 Nov 7:101253. doi: 10.1016/j.gim.2024.101253. Online ahead of print. Genet Med. 2024. PMID: 39636576 Free article.
A very mild phenotype in six individuals of a three-generation family with the novel HRAS variant c.176C > G p.(Ala59Gly): Emergence of a new HRAS-related RASopathy distinct from Costello syndrome.
Frey T, Ivanovski I, Bahr A, Zweier M, Laube J, Luchsinger I, Steindl K, Rauch A. Frey T, et al. Among authors: laube j. Am J Med Genet A. 2023 Aug;191(8):2074-2082. doi: 10.1002/ajmg.a.63240. Epub 2023 May 16. Am J Med Genet A. 2023. PMID: 37194190 Free article.
East Asian summer monsoon delivers large abundances of very-short-lived organic chlorine substances to the lower stratosphere.
Pan LL, Atlas EL, Honomichl SB, Smith WP, Kinnison DE, Solomon S, Santee ML, Saiz-Lopez A, Laube JC, Wang B, Ueyama R, Bresch JF, Hornbrook RS, Apel EC, Hills AJ, Treadaway V, Smith K, Schauffler S, Donnelly S, Hendershot R, Lueb R, Campos T, Viciani S, D'Amato F, Bianchini G, Barucci M, Podolske JR, Iraci LT, Gurganus C, Bui P, Dean-Day JM, Millán L, Ryoo JM, Barletta B, Koo JH, Kim J, Liang Q, Randel WJ, Thornberry T, Newman PA. Pan LL, et al. Among authors: laube jc. Proc Natl Acad Sci U S A. 2024 Mar 19;121(12):e2318716121. doi: 10.1073/pnas.2318716121. Epub 2024 Mar 14. Proc Natl Acad Sci U S A. 2024. PMID: 38483991 Free PMC article.
69 results