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Page 1
Molecular characterization of Spanish patients with MECP2 duplication syndrome.
Pascual-Alonso A, Blasco L, Vidal S, Gean E, Rubio P, O'Callaghan M, Martínez-Monseny AF, Castells AA, Xiol C, Català V, Brandi N, Pacheco P, Ros C, Del Campo M, Guillén E, Ibañez S, Sánchez MJ, Lapunzina P, Nevado J, Santos F, Lloveras E, Ortigoza-Escobar JD, Tejada MI, Maortua H, Martínez F, Orellana C, Roselló M, Mesas MA, Obón M, Plaja A, Fernández-Ramos JA, Tizzano E, Marín R, Peña-Segura JL, Alcántara S, Armstrong J. Pascual-Alonso A, et al. Among authors: obon m. Clin Genet. 2020 Apr;97(4):610-620. doi: 10.1111/cge.13718. Epub 2020 Feb 23. Clin Genet. 2020. PMID: 32043567
ZDHHC15 as a candidate gene for autism spectrum disorder.
Casellas-Vidal D, Mademont-Soler I, Sánchez J, Plaja A, Castells N, Camós M, Nieto-Moragas J, Del Mar García M, Rodriguez-Solera C, Rivera H, Brunet J, Álvarez S, Perapoch J, Queralt X, Obón M. Casellas-Vidal D, et al. Among authors: obon m. Am J Med Genet A. 2023 Apr;191(4):941-947. doi: 10.1002/ajmg.a.63099. Epub 2022 Dec 23. Am J Med Genet A. 2023. PMID: 36565021
Incidental Findings Identified by Prenatal Microarray Analysis and Consensus Reporting Criteria of the Catalan Public Health Network XIGENICS.
Mademont-Soler I, Castells-Sarret N, Cisneros A, Foj L, Benavent-Bofill C, Xunclà M, Viñas-Jornet M, Ros A, Rey N, Blanco I, López-Ortega R, Obón M, Plaja A. Mademont-Soler I, et al. Among authors: obon m. Prenat Diagn. 2025 Jan 15. doi: 10.1002/pd.6746. Online ahead of print. Prenat Diagn. 2025. PMID: 39815072
Unexpected complexity in the molecular diagnosis of spastic paraplegia 11.
Mademont-Soler I, Esteba-Castillo S, Jiménez-Xifra A, Alemany B, Ribas-Vidal N, Cutillas M, Coll M, Pinsach ML, Pagans S, Alcalde M, Viñas-Jornet M, Montero-Vale M, de Castro-Miró M, Rodríguez J, Armengol L, Queralt X, Obón M. Mademont-Soler I, et al. Among authors: obon m. Mol Genet Genomic Med. 2024 Jun;12(6):e2475. doi: 10.1002/mgg3.2475. Mol Genet Genomic Med. 2024. PMID: 38938072 Free PMC article.
Heterozygous STUB1 mutation causes familial ataxia with cognitive affective syndrome (SCA48).
Genis D, Ortega-Cubero S, San Nicolás H, Corral J, Gardenyes J, de Jorge L, López E, Campos B, Lorenzo E, Tonda R, Beltran S, Negre M, Obón M, Beltran B, Fàbregas L, Alemany B, Márquez F, Ramió-Torrentà L, Gich J, Volpini V, Pastor P. Genis D, et al. Among authors: obon m. Neurology. 2018 Nov 20;91(21):e1988-e1998. doi: 10.1212/WNL.0000000000006550. Epub 2018 Oct 31. Neurology. 2018. PMID: 30381368
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