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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: peter vg. 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.
The Liberfarb syndrome, a multisystem disorder affecting eye, ear, bone, and brain development, is caused by a founder pathogenic variant in thePISD gene.
Peter VG, Quinodoz M, Pinto-Basto J, Sousa SB, Di Gioia SA, Soares G, Ferraz Leal G, Silva ED, Pescini Gobert R, Miyake N, Matsumoto N, Engle EC, Unger S, Shapiro F, Superti-Furga A, Rivolta C, Campos-Xavier B. Peter VG, et al. Genet Med. 2019 Dec;21(12):2734-2743. doi: 10.1038/s41436-019-0595-x. Epub 2019 Jul 2. Genet Med. 2019. PMID: 31263216 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: peter vg. 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.
Genomic and transcriptomic landscape of conjunctival melanoma.
Cisarova K, Folcher M, El Zaoui I, Pescini-Gobert R, Peter VG, Royer-Bertrand B, Zografos L, Schalenbourg A, Nicolas M, Rimoldi D, Leyvraz S, Riggi N, Moulin AP, Rivolta C. Cisarova K, et al. Among authors: peter vg. PLoS Genet. 2020 Dec 31;16(12):e1009201. doi: 10.1371/journal.pgen.1009201. eCollection 2020 Dec. PLoS Genet. 2020. PMID: 33383577 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: peter vg. Nat Commun. 2021 Jan 22;12(1):518. doi: 10.1038/s41467-020-20584-4. Nat Commun. 2021. PMID: 33483490 Free PMC article.
Immune deficiency, autoimmune disease and intellectual disability: A pleiotropic disorder caused by biallelic variants in the TPP2 gene.
Atallah I, Quinodoz M, Campos-Xavier B, Peter VG, Fouriki A, Bonvin C, Bottani A, Kumps C, Angelini F, Bellutti Enders F, Christen-Zaech S, Rizzi M, Renella R, Beck-Popovic M, Poloni C, Frossard V, Blouin JL, Rivolta C, Riccio O, Candotti F, Hofer M, Unger S, Superti-Furga A. Atallah I, et al. Among authors: peter vg. Clin Genet. 2021 Jun;99(6):780-788. doi: 10.1111/cge.13942. Epub 2021 Feb 21. Clin Genet. 2021. PMID: 33586135
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