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ABCA4 c.6480-35A>G, a novel branchpoint variant associated with Stargardt disease.
Rodríguez-Hidalgo M, de Bruijn SE, Corradi Z, Rodenburg K, Lara-López A, Valverde-Megías A, Ávila-Fernández A, Fernandez-Caballero L, Del Pozo-Valero M, Corominas J, Gilissen C, Irigoyen C, Cremers FPM, Ayuso C, Ruiz-Ederra J, Roosing S. Rodríguez-Hidalgo M, et al. Front Genet. 2023 Sep 7;14:1234032. doi: 10.3389/fgene.2023.1234032. eCollection 2023. Front Genet. 2023. PMID: 37779911 Free PMC article.
Subretinal Injection Techniques for Retinal Disease: A Review.
Irigoyen C, Amenabar Alonso A, Sanchez-Molina J, Rodríguez-Hidalgo M, Lara-López A, Ruiz-Ederra J. Irigoyen C, et al. Among authors: rodriguez hidalgo m. J Clin Med. 2022 Aug 12;11(16):4717. doi: 10.3390/jcm11164717. J Clin Med. 2022. PMID: 36012955 Free PMC article. Review.
Whole genome sequencing identifies elusive variants in genetically unsolved Italian inherited retinal disease patients.
Zeuli R, Karali M, de Bruijn SE, Rodenburg K, Scarpato M, Capasso D, Astuti GDN, Gilissen C, Rodríguez-Hidalgo M, Ruiz-Ederra J, Testa F, Simonelli F, Cremers FPM, Banfi S, Roosing S. Zeuli R, et al. Among authors: rodriguez hidalgo m. HGG Adv. 2024 May 29:100314. doi: 10.1016/j.xhgg.2024.100314. Online ahead of print. HGG Adv. 2024. PMID: 38816995 Free article.
Next-generation sequencing to genetically diagnose a diverse range of inherited eye disorders in 15 consanguineous families from Pakistan.
Basharat R, de Bruijn SE, Zahid M, Rodenburg K, Hitti-Malin RJ, Rodríguez-Hidalgo M, Boonen EGM, Jarral A, Mahmood A, Corominas J, Khalil S, Zai JA, Ali G, Ruiz-Ederra J, Gilissen C, Cremers FPM, Ansar M, Panneman DM, Roosing S. Basharat R, et al. Among authors: rodriguez hidalgo m. Exp Eye Res. 2024 May 28;244:109945. doi: 10.1016/j.exer.2024.109945. Online ahead of print. Exp Eye Res. 2024. PMID: 38815792 Free article.