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Page 1
A new nonsense mutation in HMX1 in two siblings with oculoauricular syndrome.
Ansar M, Javed S, Baig HMA, Quinodoz M, Ullah M, Han JH, Rahim MU, Kausar H, Calzetti G, Rivolta C. Ansar M, et al. Among authors: calzetti g. Ophthalmic Genet. 2022 Oct;43(5):720-723. doi: 10.1080/13816810.2022.2096242. Epub 2022 Aug 10. Ophthalmic Genet. 2022. PMID: 35946463 No abstract available.
A Unique Presentation of Bilateral Chorioretinal Atrophy.
Grosso A, Yannuzzi LA, Tsang SH, Ceruti P, Sarraf D, Zamir E, Kaminska K, Quinodoz M, Amoroso A, Deaglio S, Francis JH, Fioretto M, Rivolta C, Calzetti G. Grosso A, et al. Among authors: calzetti g. Asia Pac J Ophthalmol (Phila). 2023 Sep-Oct 01;12(5):500-501. doi: 10.1097/APO.0000000000000563. Epub 2022 Oct 28. Asia Pac J Ophthalmol (Phila). 2023. PMID: 36650090 Free article. No abstract available.
TBC1D32 variants disrupt retinal ciliogenesis and cause retinitis pigmentosa.
Bocquet B, Borday C, Erkilic N, Mamaeva D, Donval A, Masson C, Parain K, Kaminska K, Quinodoz M, Perea-Romero I, Garcia-Garcia G, Jimenez-Medina C, Boukhaddaoui H, Coget A, Leboucq N, Calzetti G, Gandolfi S, Percesepe A, Barili V, Uliana V, Delsante M, Bozzetti F, Scholl HP, Corton M, Ayuso C, Millan JM, Rivolta C, Meunier I, Perron M, Kalatzis V. Bocquet B, et al. Among authors: calzetti g. JCI Insight. 2023 Nov 8;8(21):e169426. doi: 10.1172/jci.insight.169426. JCI Insight. 2023. PMID: 37768732 Free PMC article.
Loss-of-function variants in UBAP1L cause autosomal recessive retinal degeneration.
Han JH, Rodenburg K, Hayman T, Calzetti G, Kaminska K, Quinodoz M, Marra M, Wallerich S, Allon G, Nagy ZZ, Knézy K, Li Y, Chen R, Barboni MTS, Yang P, Pennesi ME, van den Born LI, Varsányi B, Szabó V, Sharon D, Banin E, Ben-Yosef T, Roosing S, Koenekoop RK, Rivolta C. Han JH, et al. Among authors: calzetti g. Genet Med. 2024 Feb 28:101106. doi: 10.1016/j.gim.2024.101106. Online ahead of print. Genet Med. 2024. PMID: 38420906 Free article.
Detection of elusive DNA copy-number variations in hereditary disease and cancer through the use of noncoding and off-target sequencing reads.
Quinodoz M, Kaminska K, Cancellieri F, Han JH, Peter VG, Celik E, Janeschitz-Kriegl L, Schärer N, Hauenstein D, György B, Calzetti G, Hahaut V, Custódio S, Sousa AC, Wada Y, Murakami Y, Fernández AA, Hernández CR, Minguez P, Ayuso C, Nishiguchi KM, Santos C, Santos LC, Tran VH, Vaclavik V, Scholl HPN, Rivolta C. Quinodoz M, et al. Among authors: calzetti g. Am J Hum Genet. 2024 Apr 4;111(4):701-713. doi: 10.1016/j.ajhg.2024.03.001. Epub 2024 Mar 25. Am J Hum Genet. 2024. PMID: 38531366 Free PMC article.
41 results