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Mutations in TRIM63 cause an autosomal-recessive form of hypertrophic cardiomyopathy.
Salazar-Mendiguchía J, Ochoa JP, Palomino-Doza J, Domínguez F, Díez-López C, Akhtar M, Ramiro-León S, Clemente MM, Pérez-Cejas A, Robledo M, Gómez-Díaz I, Peña-Peña ML, Climent V, Salmerón-Martínez F, Hernández C, García-Granja PE, Mogollón MV, Cárdenas-Reyes I, Cicerchia M, García-Giustiniani D, Lamounier A Jr, Gil-Fournier B, Díaz-Flores F, Salguero R, Santomé L, Syrris P, Olivé M, García-Pavía P, Ortiz-Genga M, Elliott PM, Monserrat L; GENESCOPIC Research Group. Salazar-Mendiguchía J, et al. Among authors: lamounier a jr. Heart. 2020 Sep;106(17):1342-1348. doi: 10.1136/heartjnl-2020-316913. Epub 2020 May 25. Heart. 2020. PMID: 32451364 Free PMC article.
Autosomal-Recessive Mutations in MESD Cause Osteogenesis Imperfecta.
Moosa S, Yamamoto GL, Garbes L, Keupp K, Beleza-Meireles A, Moreno CA, Valadares ER, de Sousa SB, Maia S, Saraiva J, Honjo RS, Kim CA, Cabral de Menezes H, Lausch E, Lorini PV, Lamounier A Jr, Carniero TCB, Giunta C, Rohrbach M, Janner M, Semler O, Beleggia F, Li Y, Yigit G, Reintjes N, Altmüller J, Nürnberg P, Cavalcanti DP, Zabel B, Warman ML, Bertola DR, Wollnik B, Netzer C. Moosa S, et al. Among authors: lamounier a jr. Am J Hum Genet. 2019 Oct 3;105(4):836-843. doi: 10.1016/j.ajhg.2019.08.008. Epub 2019 Sep 26. Am J Hum Genet. 2019. PMID: 31564437 Free PMC article.
Formin Homology 2 Domain Containing 3 (FHOD3) Is a Genetic Basis for Hypertrophic Cardiomyopathy.
Ochoa JP, Sabater-Molina M, García-Pinilla JM, Mogensen J, Restrepo-Córdoba A, Palomino-Doza J, Villacorta E, Martinez-Moreno M, Ramos-Maqueda J, Zorio E, Peña-Peña ML, García-Granja PE, Rodríguez-Palomares JF, Cárdenas-Reyes IJ, de la Torre-Carpente MM, Bautista-Pavés A, Akhtar MM, Cicerchia MN, Bilbao-Quesada R, Mogollón-Jimenez MV, Salazar-Mendiguchía J, Mesa Latorre JM, Arnaez B, Olavarri-Miguel I, Fuentes-Cañamero ME, Lamounier A Jr, Pérez Ruiz JM, Climent-Payá V, Pérez-Sanchez I, Trujillo-Quintero JP, Lopes LR, Repáraz-Andrade A, Marín-Iglesias R, Rodriguez-Vilela A, Sandín-Fuentes M, Garrote JA, Cortel-Fuster A, Lopez-Garrido M, Fontalba-Romero A, Ripoll-Vera T, Llano-Rivas I, Fernandez-Fernandez X, Isidoro-García M, Garcia-Giustiniani D, Barriales-Villa R, Ortiz-Genga M, García-Pavía P, Elliott PM, Gimeno JR, Monserrat L. Ochoa JP, et al. Among authors: lamounier a jr. J Am Coll Cardiol. 2018 Nov 13;72(20):2457-2467. doi: 10.1016/j.jacc.2018.10.001. J Am Coll Cardiol. 2018. PMID: 30442288 Free article.