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Recommendations for Interpreting and Reporting Silent Carrier and Disease-Modifying Variants in SMA Testing Workflows.
Genes (Basel). 2022 Sep 15;13(9):1657. doi: 10.3390/genes13091657.
Genes (Basel). 2022.
PMID: 36140824
Free PMC article.
Review.
The Importance of Digging into the Genetics of SMN Genes in the Therapeutic Scenario of Spinal Muscular Atrophy.
Costa-Roger M, Blasco-Pérez L, Cuscó I, Tizzano EF.
Costa-Roger M, et al.
Int J Mol Sci. 2021 Aug 21;22(16):9029. doi: 10.3390/ijms22169029.
Int J Mol Sci. 2021.
PMID: 34445733
Free PMC article.
Review.
Item in Clipboard
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.
Item in Clipboard
Genetic factors contributing to autism spectrum disorder in Williams-Beuren syndrome.
Codina-Sola M, Costa-Roger M, Pérez-García D, Flores R, Palacios-Verdú MG, Cusco I, Pérez-Jurado LA.
Codina-Sola M, et al. Among authors: costa roger m.
J Med Genet. 2019 Dec;56(12):801-808. doi: 10.1136/jmedgenet-2019-106080. Epub 2019 Aug 14.
J Med Genet. 2019.
PMID: 31413120
Free PMC article.
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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.
Item in Clipboard
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
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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
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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.
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