Identification and Correction of Mechanisms Underlying Inherited Blindness in Human iPSC-Derived Optic Cups
Parfitt, David A., Lane, Amelia, Ramsden, Conor M., Carr, Amanda-Jayne F., Munro, Peter M., Jovanovic, Katarina, Schwarz, Nele, Kanuga, Naheed, Muthiah, Manickam N., Hull, Sarah, Gallo, Jean-Marc, da Cruz, Lyndon, Moore, Anthony T., Hardcastle, Alison J., Coffey, Peter J., Cheetham, Michael E.
Published in Cell stem cell (02.06.2016)
Published in Cell stem cell (02.06.2016)
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Journal Article
Modeling and Rescue of RP2 Retinitis Pigmentosa Using iPSC-Derived Retinal Organoids
Lane, Amelia, Jovanovic, Katarina, Shortall, Ciara, Ottaviani, Daniele, Panes, Anna Brugulat, Schwarz, Nele, Guarascio, Rosellina, Hayes, Matthew J., Palfi, Arpad, Chadderton, Naomi, Farrar, G. Jane, Hardcastle, Alison J., Cheetham, Michael E.
Published in Stem cell reports (14.07.2020)
Published in Stem cell reports (14.07.2020)
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GUCY2D-Associated Leber Congenital Amaurosis: A Retrospective Natural History Study in Preparation for Trials of Novel Therapies
Bouzia, Zaina, Georgiou, Michalis, Hull, Sarah, Robson, Anthony G., Fujinami, Kaoru, Rotsos, Tryfon, Pontikos, Nikolas, Arno, Gavin, Webster, Andrew R., Hardcastle, Alison J., Fiorentino, Alessia, Michaelides, Michel
Published in American journal of ophthalmology (01.02.2020)
Published in American journal of ophthalmology (01.02.2020)
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Journal Article
Autosomal-Dominant Corneal Endothelial Dystrophies CHED1 and PPCD1 Are Allelic Disorders Caused by Non-coding Mutations in the Promoter of OVOL2
Davidson, Alice E., Liskova, Petra, Evans, Cerys J., Dudakova, Lubica, Nosková, Lenka, Pontikos, Nikolas, Hartmannová, Hana, Hodaňová, Kateřina, Stránecký, Viktor, Kozmík, Zbyněk, Levis, Hannah J., Idigo, Nwamaka, Sasai, Noriaki, Maher, Geoffrey J., Bellingham, James, Veli, Neyme, Ebenezer, Neil D., Cheetham, Michael E., Daniels, Julie T., Thaung, Caroline M.H., Jirsova, Katerina, Plagnol, Vincent, Filipec, Martin, Kmoch, Stanislav, Tuft, Stephen J., Hardcastle, Alison J.
Published in American journal of human genetics (07.01.2016)
Published in American journal of human genetics (07.01.2016)
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Journal Article
Mutations in REEP6 Cause Autosomal-Recessive Retinitis Pigmentosa
Arno, Gavin, Agrawal, Smriti A., Eblimit, Aiden, Bellingham, James, Xu, Mingchu, Wang, Feng, Chakarova, Christina, Parfitt, David A., Lane, Amelia, Burgoyne, Thomas, Hull, Sarah, Carss, Keren J., Fiorentino, Alessia, Hayes, Matthew J., Munro, Peter M., Nicols, Ralph, Pontikos, Nikolas, Holder, Graham E., Black, Graeme, Hall, Georgina, Ingram, Stuart, Gillespie, Rachel, Manson, Forbes, Sergouniotis, Panagiotis, Inglehearn, Chris, Toomes, Carmel, Ali, Manir, McKibbin, Martin, Poulter, James, Khan, Kamron, Lord, Emma, Nemeth, Andrea, Downes, Susan, Yu, Jing, Lise, Stefano, Arno, Gavin, Fiorentino, Alessia, Ponitkos, Nikos, Plagnol, Vincent, Michaelides, Michel, Hardcastle, Alison J., Cheetham, Michael E., Webster, Andrew R., van Heyningen, Veronica, Asomugha, Chinwe, Raymond, F. Lucy, Moore, Anthony T., Plagnol, Vincent, Michaelides, Michel, Hardcastle, Alison J., Li, Yumei, Cukras, Catherine, Webster, Andrew R., Cheetham, Michael E., Chen, Rui
Published in American journal of human genetics (01.12.2016)
Published in American journal of human genetics (01.12.2016)
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Journal Article
Arl3 and RP2 regulate the trafficking of ciliary tip kinesins
Schwarz, Nele, Lane, Amelia, Jovanovic, Katarina, Parfitt, David A, Aguila, Monica, Thompson, Clare L, da Cruz, Lyndon, Coffey, Peter J, Chapple, J Paul, Hardcastle, Alison J, Cheetham, Michael E
Published in Human molecular genetics (01.07.2017)
Published in Human molecular genetics (01.07.2017)
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Journal Article
Antisense Therapy for a Common Corneal Dystrophy Ameliorates TCF4 Repeat Expansion-Mediated Toxicity
Zarouchlioti, Christina, Sanchez-Pintado, Beatriz, Hafford Tear, Nathaniel J., Klein, Pontus, Liskova, Petra, Dulla, Kalyan, Semo, Ma’ayan, Vugler, Anthony A., Muthusamy, Kirithika, Dudakova, Lubica, Levis, Hannah J., Skalicka, Pavlina, Hysi, Pirro, Cheetham, Michael E., Tuft, Stephen J., Adamson, Peter, Hardcastle, Alison J., Davidson, Alice E.
Published in American journal of human genetics (05.04.2018)
Published in American journal of human genetics (05.04.2018)
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Journal Article
Mutations in CPAMD8 Cause a Unique Form of Autosomal-Recessive Anterior Segment Dysgenesis
Cheong, Sek-Shir, Hentschel, Lisa, Davidson, Alice E., Gerrelli, Dianne, Davie, Rebecca, Rizzo, Roberta, Pontikos, Nikolas, Plagnol, Vincent, Moore, Anthony T., Sowden, Jane C., Michaelides, Michel, Snead, Martin, Tuft, Stephen J., Hardcastle, Alison J.
Published in American journal of human genetics (01.12.2016)
Published in American journal of human genetics (01.12.2016)
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Journal Article
Translational read-through of the RP2 Arg120stop mutation in patient iPSC-derived retinal pigment epithelium cells
Schwarz, Nele, Carr, Amanda-Jayne, Lane, Amelia, Moeller, Fabian, Chen, Li Li, Aguilà, Mònica, Nommiste, Britta, Muthiah, Manickam N, Kanuga, Naheed, Wolfrum, Uwe, Nagel-Wolfrum, Kerstin, da Cruz, Lyndon, Coffey, Peter J, Cheetham, Michael E, Hardcastle, Alison J
Published in Human molecular genetics (15.02.2015)
Published in Human molecular genetics (15.02.2015)
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Journal Article
Ectopic GRHL2 Expression Due to Non-coding Mutations Promotes Cell State Transition and Causes Posterior Polymorphous Corneal Dystrophy 4
Liskova, Petra, Dudakova, Lubica, Evans, Cerys J., Rojas Lopez, Karla E., Pontikos, Nikolas, Athanasiou, Dimitra, Jama, Hodan, Sach, Josef, Skalicka, Pavlina, Stranecky, Viktor, Kmoch, Stanislav, Thaung, Caroline, Filipec, Martin, Cheetham, Michael E., Davidson, Alice E., Tuft, Stephen J., Hardcastle, Alison J.
Published in American journal of human genetics (01.03.2018)
Published in American journal of human genetics (01.03.2018)
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Journal Article
CRISPR/Cas9-targeted enrichment and long-read sequencing of the Fuchs endothelial corneal dystrophy–associated TCF4 triplet repeat
Hafford-Tear, Nathaniel J., Tsai, Yu-Chih, Sadan, Amanda N., Sanchez-Pintado, Beatriz, Zarouchlioti, Christina, Maher, Geoffrey J., Liskova, Petra, Tuft, Stephen J., Hardcastle, Alison J., Clark, Tyson A., Davidson, Alice E.
Published in Genetics in medicine (01.09.2019)
Published in Genetics in medicine (01.09.2019)
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Journal Article
Deciphering novel TCF4-driven mechanisms underlying a common triplet repeat expansion-mediated disease
Bhattacharyya, Nihar, Chai, Niuzheng, Hafford-Tear, Nathaniel J, Sadan, Amanda N, Szabo, Anita, Zarouchlioti, Christina, Jedlickova, Jana, Leung, Szi Kay, Liao, Tianyi, Dudakova, Lubica, Skalicka, Pavlina, Parekh, Mohit, Moghul, Ismail, Jeffries, Aaron R, Cheetham, Michael E, Muthusamy, Kirithika, Hardcastle, Alison J, Pontikos, Nikolas, Liskova, Petra, Tuft, Stephen J, Davidson, Alice E
Published in PLoS genetics (07.05.2024)
Published in PLoS genetics (07.05.2024)
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Journal Article
Human cone visual pigment deletions spare sufficient photoreceptors to warrant gene therapy
Cideciyan, Artur V, Hufnagel, Robert B, Carroll, Joseph, Sumaroka, Alexander, Luo, Xunda, Schwartz, Sharon B, Dubra, Alfredo, Land, Megan, Michaelides, Michel, Gardner, Jessica C, Hardcastle, Alison J, Moore, Anthony T, Sisk, Robert A, Ahmed, Zubair M, Kohl, Susanne, Wissinger, Bernd, Jacobson, Samuel G
Published in Human gene therapy (01.12.2013)
Published in Human gene therapy (01.12.2013)
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Journal Article
The retinitis pigmentosa protein RP2 links pericentriolar vesicle transport between the Golgi and the primary cilium
Evans, R. Jane, Schwarz, Nele, Nagel-Wolfrum, Kerstin, Wolfrum, Uwe, Hardcastle, Alison J., Cheetham, Michael E.
Published in Human molecular genetics (01.04.2010)
Published in Human molecular genetics (01.04.2010)
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Journal Article
Phenopolis: an open platform for harmonization and analysis of genetic and phenotypic data
Pontikos, Nikolas, Yu, Jing, Moghul, Ismail, Withington, Lucy, Blanco-Kelly, Fiona, Vulliamy, Tom, Wong, Tsz Lun Ernest, Murphy, Cian, Cipriani, Valentina, Fiorentino, Alessia, Arno, Gavin, Greene, Daniel, Jacobsen, Julius O B, Clark, Tristan, Gregory, David S, Nemeth, Andrea M, Halford, Stephanie, Inglehearn, Chris F, Downes, Susan, Black, Graeme C, Webster, Andrew R, Hardcastle, Alison J, Plagnol, Vincent
Published in Bioinformatics (Oxford, England) (01.08.2017)
Published in Bioinformatics (Oxford, England) (01.08.2017)
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Journal Article
Mutations in ARL2BP, Encoding ADP-Ribosylation-Factor-Like 2 Binding Protein, Cause Autosomal-Recessive Retinitis Pigmentosa
Davidson, Alice E., Schwarz, Nele, Zelinger, Lina, Stern-Schneider, Gabriele, Shoemark, Amelia, Spitzbarth, Benjamin, Gross, Menachem, Laxer, Uri, Sosna, Jacob, Sergouniotis, Panagiotis I., Waseem, Naushin H., Wilson, Robert, Kahn, Richard A., Plagnol, Vincent, Wolfrum, Uwe, Banin, Eyal, Hardcastle, Alison J., Cheetham, Michael E., Sharon, Dror, Webster, Andrew R.
Published in American journal of human genetics (08.08.2013)
Published in American journal of human genetics (08.08.2013)
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Journal Article
The effect of cone opsin mutations on retinal structure and the integrity of the photoreceptor mosaic
Carroll, Joseph, Dubra, Alfredo, Gardner, Jessica C, Mizrahi-Meissonnier, Liliana, Cooper, Robert F, Dubis, Adam M, Nordgren, Rick, Genead, Mohamed, Connor, Jr, Thomas B, Stepien, Kimberly E, Sharon, Dror, Hunt, David M, Banin, Eyal, Hardcastle, Alison J, Moore, Anthony T, Williams, David R, Fishman, Gerald, Neitz, Jay, Neitz, Maureen, Michaelides, Michel
Published in Investigative ophthalmology & visual science (05.12.2012)
Published in Investigative ophthalmology & visual science (05.12.2012)
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Journal Article
X-Linked Megalocornea Caused by Mutations in CHRDL1 Identifies an Essential Role for Ventroptin in Anterior Segment Development
Webb, Tom R., Matarin, Mar, Gardner, Jessica C., Kelberman, Dan, Hassan, Hala, Ang, Wei, Michaelides, Michel, Ruddle, Jonathan B., Pennell, Craig E., Yazar, Seyhan, Khor, Chiea C., Aung, Tin, Yogarajah, Mahinda, Robson, Anthony G., Holder, Graham E., Cheetham, Michael E., Traboulsi, Elias I., Moore, Anthony T., Sowden, Jane C., Sisodiya, Sanjay M., Mackey, David A., Tuft, Stephen J., Hardcastle, Alison J.
Published in American journal of human genetics (10.02.2012)
Published in American journal of human genetics (10.02.2012)
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Journal Article
Schnyder corneal dystrophy and associated phenotypes caused by novel and recurrent mutations in the UBIAD1 gene
Evans, Cerys J, Dudakova, Lubica, Skalicka, Pavlina, Mahelkova, Gabriela, Horinek, Ales, Hardcastle, Alison J, Tuft, Stephen J, Liskova, Petra
Published in BMC ophthalmology (17.09.2018)
Published in BMC ophthalmology (17.09.2018)
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