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2018Clarin-1 gene transfer rescues auditory synaptopathy in model of Usher syndrome, J. Clin. Invest. 2018 Jul;.
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2018Variants in CIB2 cause DFNB48 and not USH1J, Clin. Genet. 2018 Apr;93(4):812-821.
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2018Cone degeneration is triggered by the absence of USH1 proteins but prevented by antioxidant treatments, Sci Rep 2018 Jan;8(1):1968.
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2017CIB2, defective in isolated deafness, is key for auditory hair cell mechanotransduction and survival, EMBO Mol Med 2017 Dec;9(12):1711-1731.
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2017Conformational switch of harmonin, a submembrane scaffold protein of the hair cell mechanoelectrical transduction machinery, FEBS Lett. 2017 08;591(15):2299-2310.
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2017Usher syndrome type 1-associated cadherins shape the photoreceptor outer segment, J. Cell Biol. 2017 Jun;216(6):1849-1864.
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2017Spectrin βV adaptive mutations and changes in subcellular location correlate with emergence of hair cell electromotility in mammalians, Proc. Natl. Acad. Sci. U.S.A. 2017 Feb;114(8):2054-2059.
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2016Cadherins in the auditory sensory organ, Shintaro T. Suzuki & Shinji Hirano (eds.), In The Cadherin Superfamily, Springer, Japan. pp 341-361 (2016).
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2016Novel gene function revealed by mouse mutagenesis screens for models of age-related disease, Nat Commun 2016 Aug;7:12444.
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2016An innovative strategy for the molecular diagnosis of Usher syndrome identifies causal biallelic mutations in 93% of European patients, Eur. J. Hum. Genet. 2016 Dec;24(12):1730-1738.
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