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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
2006 1
2010 2
2011 1
2014 1
2015 5
2016 2
2017 1
2019 1
2020 9
2021 7
2022 7
2023 3
2024 2

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Page 1
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: sousa ab. PNAS Nexus. 2023 Feb 13;2(3):pgad043. doi: 10.1093/pnasnexus/pgad043. eCollection 2023 Mar. PNAS Nexus. 2023. PMID: 36909829 Free PMC article.
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: sousa ab. 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.
Characterization of three adults and an adolescent with Osteogenesis Imperfecta type VI and a novel founder SERPINF1 variant.
Travessa AM, Dias P, Rosmaninho-Salgado J, Aza-Carmona M, Moldovan O, Díaz-González F, Godinho F, Romeu JC, Oliveira-Ramos F, do Céu Barreiros M, Sousa SB, Heath KE, Sousa AB. Travessa AM, et al. Among authors: sousa ab. Eur J Med Genet. 2023 Nov;66(11):104867. doi: 10.1016/j.ejmg.2023.104867. Epub 2023 Oct 13. Eur J Med Genet. 2023. PMID: 37839784
NGLY1 deficiency-A rare congenital disorder of deglycosylation.
Lipari Pinto P, Machado C, Janeiro P, Dupont J, Quintas S, Sousa AB, Gaspar A. Lipari Pinto P, et al. Among authors: sousa ab. JIMD Rep. 2020 Apr 10;53(1):2-9. doi: 10.1002/jmd2.12108. eCollection 2020 May. JIMD Rep. 2020. PMID: 32395402 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: sousa ab. Nat Commun. 2021 Jan 22;12(1):518. doi: 10.1038/s41467-020-20584-4. Nat Commun. 2021. PMID: 33483490 Free PMC article.
38 results