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Mutations in Bcl9 and Pygo genes cause congenital heart defects by tissue-specific perturbation of Wnt/β-catenin signaling.
Cantù C, Felker A, Zimmerli D, Prummel KD, Cabello EM, Chiavacci E, Méndez-Acevedo KM, Kirchgeorg L, Burger S, Ripoll J, Valenta T, Hausmann G, Vilain N, Aguet M, Burger A, Panáková D, Basler K, Mosimann C. Cantù C, et al. Among authors: cabello em. Genes Dev. 2018 Nov 1;32(21-22):1443-1458. doi: 10.1101/gad.315531.118. Epub 2018 Oct 26. Genes Dev. 2018. PMID: 30366904 Free PMC article.
Assessing clinical utility of preconception expanded carrier screening regarding residual risk for neurodevelopmental disorders.
Boonsawat P, Horn AHC, Steindl K, Baumer A, Joset P, Kraemer D, Bahr A, Ivanovski I, Cabello EM, Papik M, Zweier M, Oneda B, Sirleto P, Burkhardt T, Sticht H, Rauch A. Boonsawat P, et al. Among authors: cabello em. NPJ Genom Med. 2022 Jul 29;7(1):45. doi: 10.1038/s41525-022-00316-x. NPJ Genom Med. 2022. PMID: 35906228 Free PMC article.