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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: rodrigues r. Nat Commun. 2021 Jan 22;12(1):518. doi: 10.1038/s41467-020-20584-4. Nat Commun. 2021. PMID: 33483490 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: rodrigues r. PNAS Nexus. 2023 Feb 13;2(3):pgad043. doi: 10.1093/pnasnexus/pgad043. eCollection 2023 Mar. PNAS Nexus. 2023. PMID: 36909829 Free PMC article.
Genetics of personalized medicine: cancer and rare diseases.
Alves ITS, Condinho M, Custódio S, Pereira BF, Fernandes R, Gonçalves V, da Costa PJ, Lacerda R, Marques AR, Martins-Dias P, Nogueira GR, Neves AR, Pinho P, Rodrigues R, Rolo E, Silva J, Travessa A, Leite RP, Sousa A, Romão L. Alves ITS, et al. Among authors: rodrigues r. Cell Oncol (Dordr). 2018 Jun;41(3):335-341. doi: 10.1007/s13402-018-0379-3. Epub 2018 Apr 9. Cell Oncol (Dordr). 2018. PMID: 29633150
Cardiac and Liver Fibrosis Assessed by Multiparametric MRI in Patients with Fontan Circulation.
Innocenzi A, Rangel I, Póvoa-Corrêa M, Parente DB, Perez R, Rodrigues RS, Fukuyama LT, Barroso JM, Oliveira Neto JA, Silvestre de Sousa A, Luiz RR, Barbosa RCP, Camargo GC, Moll-Bernardes R. Innocenzi A, et al. Among authors: rodrigues rs. Pediatr Cardiol. 2024 May 21. doi: 10.1007/s00246-024-03522-9. Online ahead of print. Pediatr Cardiol. 2024. PMID: 38771376
2,406 results