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Page 1
Inherited variants in CHD3 show variable expressivity in Snijders Blok-Campeau syndrome.
van der Spek J, den Hoed J, Snijders Blok L, Dingemans AJM, Schijven D, Nellaker C, Venselaar H, Astuti GDN, Barakat TS, Bebin EM, Beck-Wödl S, Beunders G, Brown NJ, Brunet T, Brunner HG, Campeau PM, Čuturilo G, Gilissen C, Haack TB, Hüning I, Husain RA, Kamien B, Lim SC, Lovrecic L, Magg J, Maver A, Miranda V, Monteil DC, Ockeloen CW, Pais LS, Plaiasu V, Raiti L, Richmond C, Rieß A, Schwaibold EMC, Simon MEH, Spranger S, Tan TY, Thompson ML, de Vries BBA, Wilkins EJ, Willemsen MH, Francks C, Vissers LELM, Fisher SE, Kleefstra T. van der Spek J, et al. Among authors: miranda v. Genet Med. 2022 Jun;24(6):1283-1296. doi: 10.1016/j.gim.2022.02.014. Epub 2022 Mar 26. Genet Med. 2022. PMID: 35346573 Free article.
The Quebec Dental Anomalies Registry: Identifying genes for rare disorders.
Wredenhagen MS, Goldstein A, Mathieu H, Miranda V, Morali B, Santerre J, Maftei C, Delrue MA, Schmittbuhl M, Vu DD, Moldovan F, Campeau PM. Wredenhagen MS, et al. Among authors: miranda v. PNAS Nexus. 2023 Jun 14;2(6):pgad196. doi: 10.1093/pnasnexus/pgad196. eCollection 2023 Jun. PNAS Nexus. 2023. PMID: 37361548 Free PMC article.
Bi-allelic variants in MYH3 cause recessively-inherited arthrogryposis.
Morali B, Miranda V, Raelson J, Grimard G, Glavas P, Audibert F, Dumont NA, Barone J, Bamshad M, Lemyre E, Campeau PM. Morali B, et al. Among authors: miranda v. Clin Genet. 2024 Oct;106(4):483-487. doi: 10.1111/cge.14570. Epub 2024 Jun 10. Clin Genet. 2024. PMID: 38856159
Discovery of a DNA methylation profile in individuals with Sifrim-Hitz-Weiss syndrome.
Karimi K, Lichtenstein Y, Reilly J, McConkey H, Relator R, Levy MA, Kerkhof J, Bouman A, Symonds JD, Ghoumid J, Smol T, Clarkson K, Drazba K, Louie RJ, Miranda V, McCann C, Motta J, Lancaster E, Sallevelt S, Sidlow R, Morrison J, Hannibal M, O'Shea J, Marin V, Prasad C, Patel C, Raskin S, Maria-Noelia SM, Diaz de Bustamante A, Marom D, Barkan T, Keren B, Poirsier C, Cohen L, Colin E, Gorman K, Gallant E, Menke LA, Valenzuela Palafoll I, Hauser N, Wentzensen IM, Rankin J, Turnpenny PD, Campeau PM, Balci TB, Tedder ML, Sadikovic B, Weiss K. Karimi K, et al. Among authors: miranda v. Am J Hum Genet. 2025 Jan 15:S0002-9297(24)00463-4. doi: 10.1016/j.ajhg.2024.12.020. Online ahead of print. Am J Hum Genet. 2025. PMID: 39824190
369 results