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Translational Diagnostics: An In-House Pipeline to Validate Genetic Variants in Children with Undiagnosed and Rare Diseases.
Pijuan J, Rodríguez-Sanz M, Natera-de Benito D, Ortez C, Altimir A, Osuna-López M, Roura M, Ugalde M, Van de Vondel L, Reina-Castillón J, Fons C, Benítez R, Nascimento A, Hoenicka J, Palau F. Pijuan J, et al. Among authors: osuna lopez m. J Mol Diagn. 2021 Jan;23(1):71-90. doi: 10.1016/j.jmoldx.2020.10.006. Epub 2020 Oct 24. J Mol Diagn. 2021. PMID: 33223419 Free article.
Genotype imputation in F2 crosses of inbred lines.
Pierotti S, Welz B, Osuna-López M, Fitzgerald T, Wittbrodt J, Birney E. Pierotti S, et al. Among authors: osuna lopez m. Bioinform Adv. 2024 Jul 23;4(1):vbae107. doi: 10.1093/bioadv/vbae107. eCollection 2024. Bioinform Adv. 2024. PMID: 39077633 Free PMC article.