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Page 1
Anisometropia and asymmetric ABCA4-related cone-rod dystrophy.
Santos C, Almeida A, Pinto R, Kaminska K, Peter VG, Sousa AB, Rivolta C, Coutinho-Santos L. Santos C, et al. Among authors: coutinho santos l. Ophthalmic Genet. 2022 Aug;43(4):576-580. doi: 10.1080/13816810.2022.2103834. Epub 2022 Jul 28. Ophthalmic Genet. 2022. PMID: 35903041 No abstract available.
Broadening INPP5E phenotypic spectrum: detection of rare variants in syndromic and non-syndromic IRD.
Sangermano R, Deitch I, Peter VG, Ba-Abbad R, Place EM, Zampaglione E, Wagner NE, Fulton AB, Coutinho-Santos L, Rosin B, Dunet V, AlTalbishi A, Banin E, Sousa AB, Neves M, Larson A, Quinodoz M, Michaelides M, Ben-Yosef T, Pierce EA, Rivolta C, Webster AR, Arno G, Sharon D, Huckfeldt RM, Bujakowska KM. Sangermano R, et al. Among authors: coutinho santos l. NPJ Genom Med. 2021 Jun 29;6(1):53. doi: 10.1038/s41525-021-00214-8. NPJ Genom Med. 2021. PMID: 34188062 Free PMC article.
Mutations in ARL2BP, a protein required for ciliary microtubule structure, cause syndromic male infertility in humans and mice.
Moye AR, Bedoni N, Cunningham JG, Sanzhaeva U, Tucker ES, Mathers P, Peter VG, Quinodoz M, Paris LP, Coutinho-Santos L, Camacho P, Purcell MG, Winkelmann AC, Foster JA, Pugacheva EN, Rivolta C, Ramamurthy V. Moye AR, et al. Among authors: coutinho santos l. PLoS Genet. 2019 Aug 19;15(8):e1008315. doi: 10.1371/journal.pgen.1008315. eCollection 2019 Aug. PLoS Genet. 2019. PMID: 31425546 Free PMC article.
AutoMap is a high performance homozygosity mapping tool using next-generation sequencing data.
Quinodoz M, Peter VG, Bedoni N, Royer Bertrand B, Cisarova K, Salmaninejad A, Sepahi N, Rodrigues R, Piran M, Mojarrad M, Pasdar A, Ghanbari Asad A, Sousa AB, Coutinho Santos L, Superti-Furga A, Rivolta C. Quinodoz M, et al. Among authors: coutinho santos l. Nat Commun. 2021 Jan 22;12(1):518. doi: 10.1038/s41467-020-20584-4. Nat Commun. 2021. PMID: 33483490 Free PMC article.
GPATCH11 variants cause mis-splicing and early-onset retinal dystrophy with neurological impairment.
Zanetti A, Dujardin G, Fares-Taie L, Amiel J, Roger JE, Audo I, Robert MP, David P, Jung V, Goudin N, Guerrera IC, Moriceau S, Amana D, Assia Batzir N, Bachar-Zipori A, Basel Salmon L, Boddaert N, Briault S, Bruel AL, Costet-Fighiera C, Coutinho Santos L, Gitiaux C, Kaminska K, Kuentz P, Orenstein N, Philip-Sarles N, Plutino M, Quinodoz M, Santos C, Sigaudy S, Soeiro E Sá M, Sofrin E, Sousa AB, Sousa-Luis R, Thauvin-Robinet C, van Dijk EL, Zaafrane-Khachnaoui K, Zur D, Kaplan J, Rivolta C, Rozet JM, Perrault I. Zanetti A, et al. Among authors: coutinho santos l. Nat Commun. 2024 Nov 21;15(1):10096. doi: 10.1038/s41467-024-54549-8. Nat Commun. 2024. PMID: 39572588 Free PMC article.
Bi-allelic variants in COQ8B, a gene involved in the biosynthesis of coenzyme Q10, lead to non-syndromic retinitis pigmentosa.
Iglesias-Romero AB, Kaminska K, Quinodoz M, Folcher M, Lin S, Arno G, Calado J, Webster AR, Moulin A, Sousa AB, Coutinho-Santos L, Santos C, Rivolta C. Iglesias-Romero AB, et al. Among authors: coutinho santos l. Am J Hum Genet. 2024 Oct 3;111(10):2299-2306. doi: 10.1016/j.ajhg.2024.08.005. Epub 2024 Sep 2. Am J Hum Genet. 2024. PMID: 39226897 Free PMC article.
The socioeconomic epidemiology of inherited retinal diseases in Portugal.
Marta A, Marques JP, Santos C, Coutinho-Santos L, Vaz-Pereira S, Costa J, Arede P, Félix R, Geada S, Gouveia N, Silva R, Baptista M, Lume M, Parreira R, Azevedo Soares C, Menéres MJ, Lemos C, Melo Beirão J. Marta A, et al. Among authors: coutinho santos l. Orphanet J Rare Dis. 2024 Apr 9;19(1):151. doi: 10.1186/s13023-024-03161-6. Orphanet J Rare Dis. 2024. PMID: 38594754 Free PMC article.
The first genetic landscape of inherited retinal dystrophies in Portuguese patients identifies recurrent homozygous mutations as a frequent cause of pathogenesis.
Peter VG, Kaminska K, Santos C, Quinodoz M, Cancellieri F, Cisarova K, Pescini Gobert R, Rodrigues R, Custódio S, Paris LP, Sousa AB, Coutinho Santos L, Rivolta C. Peter VG, et al. Among authors: coutinho santos l. PNAS Nexus. 2023 Feb 13;2(3):pgad043. doi: 10.1093/pnasnexus/pgad043. eCollection 2023 Mar. PNAS Nexus. 2023. PMID: 36909829 Free PMC article.