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Generation and Characterization of a Zebrafish Model for ADGRV1-Associated Retinal Dysfunction Using CRISPR/Cas9 Genome Editing Technology.
Cells. 2023 Jun 10;12(12):1598. doi: 10.3390/cells12121598.
Cells. 2023.
PMID: 37371069
Free PMC article.
SUsPECT: a pipeline for variant effect prediction based on custom long-read transcriptomes for improved clinical variant annotation.
Salz R, Saraiva-Agostinho N, Vorsteveld E, van der Made CI, Kersten S, Stemerdink M, Allen J, Volders PJ, Hunt SE, Hoischen A, 't Hoen PAC.
Salz R, et al. Among authors: stemerdink m.
BMC Genomics. 2023 Jun 6;24(1):305. doi: 10.1186/s12864-023-09391-5.
BMC Genomics. 2023.
PMID: 37280537
Free PMC article.
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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.
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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