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Page 1
Syndrome-informed phenotyping identifies a polygenic background for achondroplasia-like facial variation in the general population.
Vanneste M, Hoskens H, Goovaerts S, Matthews H, Aponte JD, Cole J, Shriver M, Marazita ML, Weinberg SM, Walsh S, Richmond S, Klein OD, Spritz RA, Peeters H, Hallgrímsson B, Claes P. Vanneste M, et al. bioRxiv [Preprint]. 2023 Dec 8:2023.12.07.570544. doi: 10.1101/2023.12.07.570544. bioRxiv. 2023. PMID: 38106188 Free PMC article. Preprint.
Joint multi-ancestry and admixed GWAS reveals the complex genetics behind human cranial vault shape.
Goovaerts S, Hoskens H, Eller RJ, Herrick N, Musolf AM, Justice CM, Yuan M, Naqvi S, Lee MK, Vandermeulen D, Szabo-Rogers HL, Romitti PA, Boyadjiev SA, Marazita ML, Shaffer JR, Shriver MD, Wysocka J, Walsh S, Weinberg SM, Claes P. Goovaerts S, et al. Nat Commun. 2023 Nov 16;14(1):7436. doi: 10.1038/s41467-023-43237-8. Nat Commun. 2023. PMID: 37973980 Free PMC article. Review.
Automatic landmarking identifies new loci associated with face morphology and implicates Neanderthal introgression in human nasal shape.
Li Q, Chen J, Faux P, Delgado ME, Bonfante B, Fuentes-Guajardo M, Mendoza-Revilla J, Chacón-Duque JC, Hurtado M, Villegas V, Granja V, Jaramillo C, Arias W, Barquera R, Everardo-Martínez P, Sánchez-Quinto M, Gómez-Valdés J, Villamil-Ramírez H, Silva de Cerqueira CC, Hünemeier T, Ramallo V, Wu S, Du S, Giardina A, Paria SS, Khokan MR, Gonzalez-José R, Schüler-Faccini L, Bortolini MC, Acuña-Alonzo V, Canizales-Quinteros S, Gallo C, Poletti G, Rojas W, Rothhammer F, Navarro N, Wang S, Adhikari K, Ruiz-Linares A. Li Q, et al. Commun Biol. 2023 May 8;6(1):481. doi: 10.1038/s42003-023-04838-7. Commun Biol. 2023. PMID: 37156940 Free PMC article.
Refining nosology by modelling variation among facial phenotypes: the RASopathies.
Matthews H, Vanneste M, Katsura K, Aponte D, Patton M, Hammond P, Baynam G, Spritz R, Klein OD, Hallgrimsson B, Peeters H, Claes P. Matthews H, et al. J Med Genet. 2022 Jul 20:jmedgenet-2021-108366. doi: 10.1136/jmedgenet-2021-108366. Online ahead of print. J Med Genet. 2022. PMID: 35858754 Free PMC article.
TWIST1 interacts with β/δ-catenins during neural tube development and regulates fate transition in cranial neural crest cells.
Bertol JW, Johnston S, Ahmed R, Xie VK, Hubka KM, Cruz L, Nitschke L, Stetsiv M, Goering JP, Nistor P, Lowell S, Hoskens H, Claes P, Weinberg SM, Saadi I, Farach-Carson MC, Fakhouri WD. Bertol JW, et al. Development. 2022 Aug 1;149(15):dev200068. doi: 10.1242/dev.200068. Epub 2022 Aug 8. Development. 2022. PMID: 35781329 Free PMC article.
45 results