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Targeted next generation sequencing for molecular diagnosis of Usher syndrome.
Aparisi MJ, Aller E, Fuster-García C, García-García G, Rodrigo R, Vázquez-Manrique RP, Blanco-Kelly F, Ayuso C, Roux AF, Jaijo T, Millán JM. Aparisi MJ, et al. Orphanet J Rare Dis. 2014 Nov 18;9:168. doi: 10.1186/s13023-014-0168-7. Orphanet J Rare Dis. 2014. PMID: 25404053 Free PMC article.
Clinical, Genetic, Morphological and Functional Correlations in a Large Series of Patients with Primary Ciliary Dyskinesia: A Heterogeneous Disease with a Controversial Diagnosis.
Carretero-Vilarroig L, Blanco-Máñez R, Muñoz-Fernández N, Ibáñez I, Berzal-Serrano A, Reula A, García-Bohórquez B, Aller E, García-García G, Millán JM, Armengot-Carceller M, Jaijo T. Carretero-Vilarroig L, et al. Mol Diagn Ther. 2025 Nov;29(6):813-826. doi: 10.1007/s40291-025-00801-w. Epub 2025 Jul 31. Mol Diagn Ther. 2025. PMID: 40742517 Free PMC article.
Two novel mutations in TBC1D32 add complexity to the oro-facial-digital syndrome.
García-Bohórquez B, Marín-Reina P, Aller E, Barberán-Martínez P, Armengot M, Llorens-Salvador R, Almor-Palacios IC, Millán JM, García-García G. García-Bohórquez B, et al. Hum Genomics. 2025 May 3;19(1):49. doi: 10.1186/s40246-025-00759-0. Hum Genomics. 2025. PMID: 40319332 Free PMC article.