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Updating the Genetic Landscape of Inherited Retinal Dystrophies.
Front Cell Dev Biol. 2021 Jul 13;9:645600. doi: 10.3389/fcell.2021.645600. eCollection 2021.
Front Cell Dev Biol. 2021.
PMID: 34327195
Free PMC article.
Application of CRISPR Tools for Variant Interpretation and Disease Modeling in Inherited Retinal Dystrophies.
Fuster-García C, García-Bohórquez B, Rodríguez-Muñoz A, Millán JM, García-García G.
Fuster-García C, et al. Among authors: garcia bohorquez b.
Genes (Basel). 2020 Apr 27;11(5):473. doi: 10.3390/genes11050473.
Genes (Basel). 2020.
PMID: 32349249
Free PMC article.
Review.
Item in Clipboard
CONCOMITANT MUTATIONS IN INHERITED RETINAL DYSTROPHIES: Why the Reproductive and Therapeutic Counseling Should Be Addressed Cautiously.
Rodríguez-Muñoz A, García-Bohórquez B, Udaondo P, Hervás-Ontiveros A, Salom D, Aller E, Jaijo T, García-García G, Millán J.
Rodríguez-Muñoz A, et al. Among authors: garcia bohorquez b.
Retina. 2021 Sep 1;41(9):1966-1975. doi: 10.1097/IAE.0000000000003103.
Retina. 2021.
PMID: 33411470
Item in Clipboard
Functional assays of non-canonical splice-site variants in inherited retinal dystrophies genes.
Rodriguez-Muñoz A, Liquori A, García-Bohorquez B, Jaijo T, Aller E, Millán JM, García-García G.
Rodriguez-Muñoz A, et al. Among authors: garcia bohorquez b.
Sci Rep. 2022 Jan 7;12(1):68. doi: 10.1038/s41598-021-03925-1.
Sci Rep. 2022.
PMID: 34996991
Free PMC article.
Item in Clipboard
Genetic Screening of the Usher Syndrome in Cuba.
Santana EE, Fuster-García C, Aller E, Jaijo T, García-Bohórquez B, García-García G, Millán JM, Lantigua A.
Santana EE, et al. Among authors: garcia bohorquez b.
Front Genet. 2019 May 22;10:501. doi: 10.3389/fgene.2019.00501. eCollection 2019.
Front Genet. 2019.
PMID: 31231422
Free PMC article.
Item in Clipboard
Usher Syndrome: Genetics of a Human Ciliopathy.
Fuster-García C, García-Bohórquez B, Rodríguez-Muñoz A, Aller E, Jaijo T, Millán JM, García-García G.
Fuster-García C, et al. Among authors: garcia bohorquez b.
Int J Mol Sci. 2021 Jun 23;22(13):6723. doi: 10.3390/ijms22136723.
Int J Mol Sci. 2021.
PMID: 34201633
Free PMC article.
Review.
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Genetics, pathogenesis and therapeutic developments for Usher syndrome type 2.
Stemerdink M, García-Bohórquez B, Schellens R, Garcia-Garcia G, Van Wijk E, Millan JM.
Stemerdink M, et al. Among authors: garcia bohorquez b.
Hum Genet. 2022 Apr;141(3-4):737-758. doi: 10.1007/s00439-021-02324-w. Epub 2021 Jul 30.
Hum Genet. 2022.
PMID: 34331125
Review.
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