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Page 1
Complex SMN Hybrids Detected in a Cohort of 31 Patients With Spinal Muscular Atrophy.
Costa-Roger M, Blasco-Pérez L, Gerin L, Codina-Solà M, Leno-Colorado J, Gómez-García De la Banda M, Garcia-Uzquiano R, Saugier-Veber P, Drunat S, Quijano-Roy S, Tizzano EF. Costa-Roger M, et al. Neurol Genet. 2024 Jul 16;10(4):e200175. doi: 10.1212/NXG.0000000000200175. eCollection 2024 Aug. Neurol Genet. 2024. PMID: 39035824 Free PMC article.
270th ENMC International Workshop: Consensus for SMN2 genetic analysis in SMA patients 10-12 March, 2023, Hoofddorp, the Netherlands.
Abiusi E, Costa-Roger M, Bertini ES, Tiziano FD, Tizzano EF; SMN2 Study group; Abiusi E, Baranello G, Bertini E, Boemer F, Burghes A, Codina-Solà M, Costa-Roger M, Dangouloff T, Groen E, Gos M, Jędrzejowska M, Kirschner J, Lemmink HH, Müller-Felber W, Ouillade MC, Quijano-Roy S, Rucinski K, Saugier-Veber P, Tiziano FD, Tizzano EF, Wirth B. Abiusi E, et al. Among authors: costa roger m. Neuromuscul Disord. 2024 Jan;34:114-122. doi: 10.1016/j.nmd.2023.12.008. Epub 2023 Dec 14. Neuromuscul Disord. 2024. PMID: 38183850 Free article.
Experience using singleton exome sequencing of probands as an approach to preconception carrier screening in consanguineous couples.
Abulí A, Costa-Roger M, Codina-Solà M, Valenzuela I, Leno-Colorado J, Rovira-Moreno E, Cueto-González A, Fernández-Álvarez P, García-Arumí E, Cuscó I, Tizzano EF. Abulí A, et al. Among authors: costa roger m. J Med Genet. 2023 Jun;60(6):540-546. doi: 10.1136/jmg-2022-108607. Epub 2022 Dec 8. J Med Genet. 2023. PMID: 36600615
An spanish study of secondary findings in families affected with mendelian disorders: choices, prevalence and family history.
Codina-Solà M, Trujillano L, Abulí A, Rovira-Moreno E, Muñoz-Cabello P, Campos B, Fernández-Álvarez P, Palau D, Carrasco E, Valenzuela I, Cueto-González AM, Lasa-Aranzasti A, Limeres J, Leno-Colorado J, Costa-Roger M, Moles-Fernández A, Balmaña J, Díez O, Cuscó I, Garcia-Arumí E, Tizzano EF. Codina-Solà M, et al. Among authors: costa roger m. Eur J Hum Genet. 2023 Feb;31(2):223-230. doi: 10.1038/s41431-022-01240-5. Epub 2022 Nov 29. Eur J Hum Genet. 2023. PMID: 36446894 Free PMC article.
Deep Molecular Characterization of Milder Spinal Muscular Atrophy Patients Carrying the c.859G>C Variant in SMN2.
Blasco-Pérez L, Costa-Roger M, Leno-Colorado J, Bernal S, Alias L, Codina-Solà M, Martínez-Cruz D, Castiglioni C, Bertini E, Travaglini L, Millán JM, Aller E, Sotoca J, Juntas R, Hoei-Hansen CE, Moreno-Escribano A, Guillén-Navarro E, Costa-Comellas L, Munell F, Boronat S, Rojas-García R, Povedano M, Cuscó I, Tizzano EF. Blasco-Pérez L, et al. Among authors: costa roger m. Int J Mol Sci. 2022 Jul 27;23(15):8289. doi: 10.3390/ijms23158289. Int J Mol Sci. 2022. PMID: 35955418 Free PMC article.
CIBERER: Spanish national network for research on rare diseases: A highly productive collaborative initiative.
Luque J, Mendes I, Gómez B, Morte B, López de Heredia M, Herreras E, Corrochano V, Bueren J, Gallano P, Artuch R, Fillat C, Pérez-Jurado LA, Montoliu L, Carracedo Á, Millán JM, Webb SM, Palau F; CIBERER Network; Lapunzina P. Luque J, et al. Clin Genet. 2022 May;101(5-6):481-493. doi: 10.1111/cge.14113. Epub 2022 Feb 4. Clin Genet. 2022. PMID: 35060122 Free PMC article. Review.