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LARS2-Perrault syndrome: a new case report and literature review.
Carminho-Rodrigues MT, Klee P, Laurent S, Guipponi M, Abramowicz M, Cao-van H, Guinand N, Paoloni-Giacobino A. Carminho-Rodrigues MT, et al. BMC Med Genet. 2020 May 18;21(1):109. doi: 10.1186/s12881-020-01028-8. BMC Med Genet. 2020. PMID: 32423379 Free PMC article. Review.
Benefits of Exome Sequencing in Children with Suspected Isolated Hearing Loss.
Van Heurck R, Carminho-Rodrigues MT, Ranza E, Stafuzza C, Quteineh L, Gehrig C, Hammar E, Guipponi M, Abramowicz M, Senn P, Guinand N, Cao-Van H, Paoloni-Giacobino A. Van Heurck R, et al. Among authors: carminho rodrigues mt. Genes (Basel). 2021 Aug 20;12(8):1277. doi: 10.3390/genes12081277. Genes (Basel). 2021. PMID: 34440452 Free PMC article.
Molecular characterization of pathogenic OTOA gene conversions in hearing loss patients.
Laurent S, Gehrig C, Nouspikel T, Amr SS, Oza A, Murphy E, Vannier A, Béna FS, Carminho-Rodrigues MT, Blouin JL, Cao Van H, Abramowicz M, Paoloni-Giacobino A, Guipponi M. Laurent S, et al. Among authors: carminho rodrigues mt. Hum Mutat. 2021 Apr;42(4):373-377. doi: 10.1002/humu.24167. Epub 2021 Mar 14. Hum Mutat. 2021. PMID: 33492714 Free PMC article.
YY1 mutations disrupt corticogenesis through a cell-type specific rewiring of cell-autonomous and non-cell-autonomous transcriptional programs.
Pereira MF, Finazzi V, Rizzuti L, Aprile D, Aiello V, Mollica L, Riva M, Soriani C, Dossena F, Shyti R, Castaldi D, Tenderini E, Carminho-Rodrigues MT, Bally JF, de Vries BBA, Gabriele M, Vitriolo A, Testa G. Pereira MF, et al. Among authors: carminho rodrigues mt. bioRxiv [Preprint]. 2024 Feb 17:2024.02.16.580337. doi: 10.1101/2024.02.16.580337. bioRxiv. 2024. PMID: 38405909 Free PMC article. Preprint.