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Christopher M Way, Dulce Lima Cunha & Mariya Moosajee. (2020) Translational readthrough inducing drugs for the treatment of inherited retinal dystrophies. Expert Review of Ophthalmology 15:3, pages 169-182.
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Takao Ukaji, Mikako Takahashi-Shibata, Daisuke Arai, Harumi Tsutsumi, Shori Tajima, Wado Akamatsu, Fumihiko Matsumoto, Katsuhisa Ikeda, Shin-ichi Usami & Kazusaku Kamiya. (2023) Generation and characterization of a human iPSC line (JUFMDOi007-A) from a patient with Usher syndrome due to mutation in USH2A. Stem Cell Research 69, pages 103100.
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Sónia Ferreira, Isabel Catarina Duarte, André Paula, Andreia C. Pereira, João Carlos Ribeiro, Hugo Quental, Aldina Reis, Eduardo Duarte Silva & Miguel Castelo-Branco. (2021) Decreased activity of piriform cortex and orbitofrontal hyperactivation in Usher Syndrome, a human disorder of ciliary dysfunction. Brain Imaging and Behavior 16:3, pages 1176-1185.
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Eric NisenbaumTorin P. ThielhelmAida Nourbakhsh, Denise Yan, Susan H. Blanton, Yilai Shu, Karl R. Koehler, Aziz El-Amraoui, Zhengyi Chen, Byron L. Lam & Xuezhong Liu. (2022) Review of Genotype-Phenotype Correlations in Usher Syndrome. Ear & Hearing 43:1, pages 1-8.
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Evan M. de Joya, Brett M. Colbert, Pei-Ciao Tang, Byron L. Lam, Jun Yang, Susan H. Blanton, Derek M. Dykxhoorn & Xuezhong Liu. (2021) Usher Syndrome in the Inner Ear: Etiologies and Advances in Gene Therapy. International Journal of Molecular Sciences 22:8, pages 3910.
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Virginie G. Peter, Mathieu Quinodoz, Silvia Sadio, Sebastian Held, Márcia Rodrigues, Marta Soares, Ana Berta Sousa, Luisa Coutinho Santos, Markus Damme & Carlo Rivolta. (2020)
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Khine Zaw, Elaine Y.M. Wong, Xiao Zhang, Dan Zhang, Shang-Chih Chen, Jennifer A. Thompson, Tina Lamey, Terri McLaren, John N. De Roach, Steve D. Wilton, Sue Fletcher, Chalermchai Mitrpant, Marcus D. Atlas, Fred K. Chen & Samuel McLenachan. (2021) Generation of three induced pluripotent stem cell lines from a patient with Usher syndrome caused by biallelic c.949C > A and c.1256G > T mutations in the USH2A gene. Stem Cell Research 50, pages 102129.
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Lyes Toualbi, Maria Toms & Mariya Moosajee. (2020) USH2A-retinopathy: From genetics to therapeutics. Experimental Eye Research 201, pages 108330.
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Meg Whatley, Abbie Francis, Zi Ying Ng, Xin Ee Khoh, Marcus D. Atlas, Rodney J. Dilley & Elaine Y. M. Wong. (2020) Usher Syndrome: Genetics and Molecular Links of Hearing Loss and Directions for Therapy. Frontiers in Genetics 11.
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Helene Lønborg-Møller, Yousif Subhi & Line Kessel. (2020) Living with Usher Syndrome: Patient and
Physician Perspectives. Ophthalmology and Therapy 9:3, pages 1-6.
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Maria Toms, Adam M Dubis, Erik de Vrieze, Dhani Tracey-White, Andreas Mitsios, Matthew Hayes, Sanne Broekman, Sarah Baxendale, Nattawan Utoomprurkporn, Doris Bamiou, Maria Bitner-Glindzicz, Andrew R Webster, Erwin Van Wijk & Mariya Moosajee. (2020) Clinical and preclinical therapeutic outcome metrics for USH2A-related disease. Human Molecular Genetics 29:11, pages 1882-1899.
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Maria Toms, Waheeda Pagarkar & Mariya Moosajee. (2020) Usher syndrome: clinical features, molecular genetics and advancing therapeutics. Therapeutic Advances in Ophthalmology 12, pages 251584142095219.
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Simona Caldani, Maria Pia Bucci, Maud Tisné, Isabelle Audo, Thierry Van Den Abbeele & Sylvette Wiener-Vacher. (2019) Postural Instability in Subjects With Usher Syndrome. Frontiers in Neurology 10.
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Samuel McLenachan, Elaine Y.M. Wong, Xiao Zhang, Fiona Leith, Sang Yoon Moon, Dan Zhang, Shang-Chih Chen, Jennifer A. Thompson, Terri McLaren, Tina Lamey, John N. De Roach, Marcus D. Atlas, Rodney J. Dilley & Fred K. Chen. (2019) Generation of two induced pluripotent stem cell lines from a patient with compound heterozygous mutations in the USH2A gene. Stem Cell Research 36, pages 101420.
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João Nuno Ramos, João Carlos Ribeiro, Andreia Carvalho Pereira, Sónia Ferreira, Isabel Catarina Duarte & Miguel Castelo-Branco. (2019) Evidence for impaired olfactory function and structural brain integrity in a disorder of ciliary function, Usher syndrome. NeuroImage: Clinical 22, pages 101757.
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Andrew Skilton, Emma Boswell, Kevin Prince, Priya Francome-Wood & Mariya Moosajee. (2018) Overcoming barriers to the involvement of deafblind people in conversations about research: recommendations from individuals with Usher syndrome. Research Involvement and Engagement 4:1.
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Yasmin Soares de Lima, Marcela Chiabai, Jun Shen, Mara S. Córdoba, Beatriz R. Versiani, Rosenelle O.A. Benício, Robert Pogue, Regina Célia Mingroni-Netto, Karina Lezirovitz, Aline Pic-Taylor, Juliana F. Mazzeu & Silviene F. Oliveira. (2018) Syndromic hearing loss molecular diagnosis: Application of massive parallel sequencing. Hearing Research 370, pages 181-188.
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Rose Richardson, Matthew Smart, Dhani Tracey-White, Andrew R. Webster & Mariya Moosajee. (2017) Mechanism and evidence of nonsense suppression therapy for genetic eye disorders. Experimental Eye Research 155, pages 24-37.
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