Involvement of Oxidative and Endoplasmic Reticulum Stress in RDH12 -Related Retinopathies
Sarkar, Hajrah, Toms, Maria, Moosajee, Mariya
Published in International journal of molecular sciences (18.08.2021)
Published in International journal of molecular sciences (18.08.2021)
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Journal Article
Usher syndrome: clinical features, molecular genetics and advancing therapeutics
Toms, Maria, Pagarkar, Waheeda, Moosajee, Mariya
Published in Therapeutic Advances in Ophthalmology (01.01.2020)
Published in Therapeutic Advances in Ophthalmology (01.01.2020)
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Book Review
Journal Article
The Landscape of Non-Viral Gene Augmentation Strategies for Inherited Retinal Diseases
Toualbi, Lyes, Toms, Maria, Moosajee, Mariya
Published in International journal of molecular sciences (26.02.2021)
Published in International journal of molecular sciences (26.02.2021)
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Journal Article
The Use of Induced Pluripotent Stem Cells as a Model for Developmental Eye Disorders
Eintracht, Jonathan, Toms, Maria, Moosajee, Mariya
Published in Frontiers in cellular neuroscience (20.08.2020)
Published in Frontiers in cellular neuroscience (20.08.2020)
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Journal Article
EPHA2 Segregates with Microphthalmia and Congenital Cataracts in Two Unrelated Families
Harding, Philippa, Toms, Maria, Schiff, Elena, Owen, Nicholas, Bell, Suzannah, Lloyd, Ian Christopher, Moosajee, Mariya
Published in International journal of molecular sciences (22.02.2021)
Published in International journal of molecular sciences (22.02.2021)
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Journal Article
Identification of Novel Coloboma Candidate Genes through Conserved Gene Expression Analyses across Four Vertebrate Species
Trejo-Reveles, Violeta, Owen, Nicholas, Ching Chan, Brian Ho, Toms, Maria, Schoenebeck, Jeffrey J, Moosajee, Mariya, Rainger, Joe
Published in Biomolecules (Basel, Switzerland) (01.02.2023)
Published in Biomolecules (Basel, Switzerland) (01.02.2023)
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Journal Article
Successful large gene augmentation of USH2A with non-viral episomal vectors
Toms, Maria, Toualbi, Lyes, Almeida, Patrick V., Harbottle, Richard, Moosajee, Mariya
Published in Molecular therapy (06.09.2023)
Published in Molecular therapy (06.09.2023)
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Journal Article
Loss of the crumbs cell polarity complex disrupts epigenetic transcriptional control and cell cycle progression in the developing retina
Owen, Nicholas, Toms, Maria, Tian, Yuan, Toualbi, Lyes, Richardson, Rose, Young, Rodrigo, Tracey‐White, Dhani, Dhami, Pawan, Beck, Stephan, Moosajee, Mariya
Published in The Journal of pathology (01.04.2023)
Published in The Journal of pathology (01.04.2023)
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Journal Article
Clinical and preclinical therapeutic outcome metrics for USH2A-related disease
Toms, Maria, Dubis, Adam M, de Vrieze, Erik, Tracey-White, Dhani, Mitsios, Andreas, Hayes, Matthew, Broekman, Sanne, Baxendale, Sarah, Utoomprurkporn, Nattawan, Bamiou, Doris, Bitner-Glindzicz, Maria, Webster, Andrew R, Van Wijk, Erwin, Moosajee, Mariya
Published in Human molecular genetics (21.07.2020)
Published in Human molecular genetics (21.07.2020)
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Journal Article
Feasibility of Direct Vitrectomy-Sparing Subretinal Injection for Gene Delivery in Large Animals
Stranak, Zbynek, Ardan, Taras, Nemesh, Yaroslav, Toms, Maria, Toualbi, Lyes, Harbottle, Richard, Ellederova, Zdenka, Lytvynchuk, Lyubomyr, Petrovski, Goran, Motlik, Jan, Moosajee, Mariya, Kozak, Igor
Published in Current eye research (02.08.2024)
Published in Current eye research (02.08.2024)
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Journal Article
Missense variants in the conserved transmembrane M2 protein domain of KCNJ13 associated with retinovascular changes in humans and zebrafish
Toms, Maria, Dubis, Adam M., Lim, Wei Sing, Webster, Andrew R., Gorin, Michael B., Moosajee, Mariya
Published in Experimental eye research (01.12.2019)
Published in Experimental eye research (01.12.2019)
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Journal Article
Identification of 4 novel human ocular coloboma genes ANK3, BMPR1B, PDGFRA, and CDH4 through evolutionary conserved vertebrate gene analysis
Owen, Nicholas, Toms, Maria, Young, Rodrigo M., Eintracht, Jonathan, Sarkar, Hajrah, Brooks, Brian P., Moosajee, Mariya, Ambrose, J.C., Baple, E.L., Bleda, M., Boardman-Pretty, F., Boissiere, J.M., Boustred, C.R., Caulfield, M.J., Chan, G.C., Craig, C.E.H., Daugherty, L.C., de, Burca A., Devereau, A., Elgar, G., Foulger, R.E., Fowler, T., Furió-Tarí, P., Hackett, J.M., Halai, D., Holman, J.E., Hubbard, T.J.P., Jackson, R., Kasperaviciute, D., Kayikci, M., Lahnstein, L., Lawson, K., Leigh, S.E.A., Leong, I.U.S., Lopez, F.J., Maleady-Crowe, F., Mason, J., McDonagh, E.M., Moutsianas, L., Mueller, M., Murugaesu, N., Need, A.C., Odhams, C.A., Patch, C., Perez-Gil, D., Polychronopoulos, D., Pullinger, J., Rahim, T., Rendon, A., Riesgo-Ferreiro, P., Rogers, T., Ryten, M., Savage, K., Sawant, K., Scott, R.H., Siddiq, A., Sieghart, A., Smedley, D., Smith, K.R., Sosinsky, A., Spooner, W., Stevens, H.E., Stuckey, A., Sultana, R., Thomas, E.R.A., Thompson, S.R., Tregidgo, C., Tucci, A., Walsh, E., Watters, S.A., Welland, M.J., Williams, E., Witkowska, K., Wood, S.M., Zarowiecki, M.
Published in Genetics in medicine (01.05.2022)
Published in Genetics in medicine (01.05.2022)
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Journal Article
Spectral Domain Optical Coherence Tomography: An In Vivo Imaging Protocol for Assessing Retinal Morphology in Adult Zebrafish
Toms, Maria, Tracey-White, Dhani, Muhundhakumar, Dhakshi, Sprogyte, Lina, Dubis, Adam M, Moosajee, Mariya
Published in Zebrafish (01.04.2017)
Published in Zebrafish (01.04.2017)
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Journal Article
Longitudinal Study to Assess the Quantitative Use of Fundus Autofluorescence for Monitoring Disease Progression in Choroideremia
Dubis, Adam M, Lim, Wei S, Jolly, Jasleen K, Toms, Maria, MacLaren, Robert E, Webster, Andrew R, Moosajee, Mariya
Published in Journal of clinical medicine (11.01.2021)
Published in Journal of clinical medicine (11.01.2021)
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Journal Article