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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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
Bone Dysplasia Sclerosteosis Results from Loss of the SOST Gene Product, a Novel Cystine Knot–Containing Protein
Brunkow, Mary E., Gardner, Jessica C., Van Ness, Jeff, Paeper, Bryan W., Kovacevich, Brian R., Proll, Sean, Skonier, John E., Zhao, L., Sabo, P.J., Fu, Ying-Hui, Alisch, Reid S., Gillett, Lucille, Colbert, Trenton, Tacconi, Paolo, Galas, David, Hamersma, Herman, Beighton, Peter, Mulligan, John T.
Published in American journal of human genetics (01.03.2001)
Published in American journal of human genetics (01.03.2001)
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Association of CHRDL1 mutations and variants with X-linked megalocornea, Neuhäuser syndrome and central corneal thickness
Davidson, Alice E, Cheong, Sek-Shir, Hysi, Pirro G, Venturini, Cristina, Plagnol, Vincent, Ruddle, Jonathan B, Ali, Hala, Carnt, Nicole, Gardner, Jessica C, Hassan, Hala, Gade, Else, Kearns, Lisa, Jelsig, Anne Marie, Restori, Marie, Webb, Tom R, Laws, David, Cosgrove, Michael, Hertz, Jens M, Russell-Eggitt, Isabelle, Pilz, Daniela T, Hammond, Christopher J, Tuft, Stephen J, Hardcastle, Alison J
Published in PloS one (05.08.2014)
Published in PloS one (05.08.2014)
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Journal Article
Bone Mineral Density in Sclerosteosis; Affected Individuals and Gene Carriers
Gardner, Jessica C, van Bezooijen, Rutger L, Mervis, Benjamin, Hamdy, Neveen A. T, Löwik, Clemens W. G. M, Hamersma, Herman, Beighton, Peter, Papapoulos, Socrates E
Published in The journal of clinical endocrinology and metabolism (01.12.2005)
Published in The journal of clinical endocrinology and metabolism (01.12.2005)
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Journal Article
Residual Cone Structure in Patients With X-Linked Cone Opsin Mutations
Patterson, Emily J, Kalitzeos, Angelos, Kasilian, Melissa, Gardner, Jessica C, Neitz, Jay, Hardcastle, Alison J, Neitz, Maureen, Carroll, Joseph, Michaelides, Michel
Published in Investigative ophthalmology & visual science (01.08.2018)
Published in Investigative ophthalmology & visual science (01.08.2018)
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Journal Article
Autosomal dominant stromal corneal dystrophy associated with a SPARCL1 missense variant
Braddock, Freddie L, Gardner, Jessica C, Bhattacharyya, Nihar, Sanchez-Pintado, Beatriz, Costa, Marcos, Zarouchlioti, Christina, Szabo, Anita, Lišková, Petra, Cheetham, Michael E, Young, Robert D, Thaung, Caroline, Davidson, Alice E, Tuft, Stephen J, Hardcastle, Alison J
Published in European journal of human genetics : EJHG (21.08.2024)
Published in European journal of human genetics : EJHG (21.08.2024)
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Journal Article
Substitution of a single non-coding nucleotide upstream of TMEM216 causes non-syndromic retinitis pigmentosa and is associated with reduced TMEM216 expression
Malka, Samantha, Biswas, Pooja, Berry, Anne-Marie, Sangermano, Riccardo, Ullah, Mukhtar, Lin, Siying, D’Antonio, Matteo, Jestin, Aleksandr, Jiao, Xiaodong, Quinodoz, Mathieu, Sullivan, Lori, Gardner, Jessica C., Place, Emily M., Michaelides, Michel, Kaminska, Karolina, Mahroo, Omar A., Schiff, Elena, Wright, Genevieve, Cancellieri, Francesca, Vaclavik, Veronika, Santos, Cristina, Rehman, Atta Ur, Mehrotra, Sudeep, Azhar Baig, Hafiz Muhammad, Iqbal, Muhammad, Ansar, Muhammad, Santos, Luisa Coutinho, Sousa, Ana Berta, Tran, Viet H., Matsui, Hiroko, Bhatia, Anjana, Naeem, Muhammad Asif, Akram, Shehla J., Akram, Javed, Riazuddin, Sheikh, Ayuso, Carmen, Pierce, Eric A., Hardcastle, Alison J., Riazuddin, S. Amer, Frazer, Kelly A., Hejtmancik, J. Fielding, Rivolta, Carlo, Bujakowska, Kinga M., Arno, Gavin, Webster, Andrew R., Ayyagari, Radha
Published in American journal of human genetics (05.09.2024)
Published in American journal of human genetics (05.09.2024)
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Journal Article
The landscape of submicroscopic structural variants at the OPN1LW/OPN1MW gene cluster on Xq28 underlying blue cone monochromacy
Wissinger, Bernd, Baumann, Britta, Buena-Atienza, Elena, Ravesh, Zeinab, Cideciyan, Artur V, Stingl, Katarina, Audo, Isabelle, Meunier, Isabelle, Bocquet, Beatrice, Traboulsi, Elias I, Hardcastle, Alison J, Gardner, Jessica C, Michaelides, Michel, Branham, Kari E, Rosenberg, Thomas, Andreasson, Sten, Dollfus, Hélène, Birch, David, Vincent, Andrea L, Martorell, Loreto, Català Mora, Jaume, Kellner, Ulrich, Rüther, Klaus, Lorenz, Birgit, Preising, Markus N, Manfredini, Emanuela, Zarate, Yuri A, Vijzelaar, Raymon, Zrenner, Eberhart, Jacobson, Samuel G, Kohl, Susanne
Published in Proceedings of the National Academy of Sciences - PNAS (05.07.2022)
Published in Proceedings of the National Academy of Sciences - PNAS (05.07.2022)
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Journal Article
Deep intronic mutation in OFD1, identified by targeted genomic next-generation sequencing, causes a severe form of X-linked retinitis pigmentosa (RP23)
WEBB, Tom R, PARFITT, David A, SCHWARZ, Nele, KANUGA, Naheed, MICHAELIDES, Michel, CHEETHAM, Michael E, GORIN, Michael B, HARDCASTLE, Alison J, GARDNER, Jessica C, MARTINEZ, Ariadna, BEVILACQUA, Dalila, DAVIDSON, Alice E, ZITO, Ilaria, THISELTON, Dawn L, RESSA, Jacob H. C, APERGI, Marina
Published in Human molecular genetics (15.08.2012)
Published in Human molecular genetics (15.08.2012)
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Journal Article
Missense variants in the X‐linked gene PRPS1 cause retinal degeneration in females
Fiorentino, Alessia, Fujinami, Kaoru, Arno, Gavin, Robson, Anthony G., Pontikos, Nikolas, Arasanz Armengol, Monica, Plagnol, Vincent, Hayashi, Takaaki, Iwata, Takeshi, Parker, Matthew, Fowler, Tom, Rendon, Augusto, Gardner, Jessica C., Henderson, Robert H., Cheetham, Michael E., Webster, Andrew R., Michaelides, Michel, Hardcastle, Alison J.
Published in Human mutation (01.01.2018)
Published in Human mutation (01.01.2018)
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Journal Article
Cone Photoreceptor Structure in Patients With X-Linked Cone Dysfunction and Red-Green Color Vision Deficiency
Patterson, Emily J, Wilk, Melissa, Langlo, Christopher S, Kasilian, Melissa, Ring, Michael, Hufnagel, Robert B, Dubis, Adam M, Tee, James J, Kalitzeos, Angelos, Gardner, Jessica C, Ahmed, Zubair M, Sisk, Robert A, Larsen, Michael, Sjoberg, Stacy, Connor, Thomas B, Dubra, Alfredo, Neitz, Jay, Hardcastle, Alison J, Neitz, Maureen, Michaelides, Michel, Carroll, Joseph
Published in Investigative ophthalmology & visual science (01.07.2016)
Published in Investigative ophthalmology & visual science (01.07.2016)
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Journal Article
Three Different Cone Opsin Gene Array Mutational Mechanisms with Genotype-Phenotype Correlation and Functional Investigation of Cone Opsin Variants
Gardner, Jessica C., Liew, Gerald, Quan, Ying-Hua, Ermetal, Burcu, Ueyama, Hisao, Davidson, Alice E., Schwarz, Nele, Kanuga, Naheed, Chana, Ravinder, Maher, Eamonn R., Webster, Andrew R., Holder, Graham E., Robson, Anthony G., Cheetham, Michael E., Liebelt, Jan, Ruddle, Jonathan B., Moore, Anthony T., Michaelides, Michel, Hardcastle, Alison J.
Published in Human mutation (01.11.2014)
Published in Human mutation (01.11.2014)
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Journal Article
Blue cone monochromacy: causative mutations and associated phenotypes
Gardner, Jessica C, Michaelides, Michel, Holder, Graham E, Kanuga, Naheed, Webb, Tom R, Mollon, John D, Moore, Anthony T, Hardcastle, Alison J
Published in Molecular vision (01.05.2009)
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Published in Molecular vision (01.05.2009)
Journal Article
Three Different Cone Opsin Gene Array Mutational Mechanisms; Genotype-Phenotype Correlation and Functional Investigation of Cone Opsin Variants
Gardner, Jessica C., Liew, Gerald, Quan, Ying-Hua, Ermetal, Burcu, Ueyama, Hisao, Davidson, Alice E., Schwarz, Nele, Kanuga, Naheed, Chana, Ravinder, Maher, Eamonn R., Webster, Andrew R., Holder, Graham E., Robson, Anthony G., Cheetham, Michael E., Liebelt, Jan, Ruddle, Jonathan B., Moore, Anthony T., Michaelides, Michel, Hardcastle, Alison J.
Published in Human mutation (01.08.2014)
Published in Human mutation (01.08.2014)
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Journal Article
X-Linked Cone Dystrophy Caused by Mutation of the Red and Green Cone Opsins
Gardner, Jessica C., Webb, Tom R., Kanuga, Naheed, Robson, Anthony G., Holder, Graham E., Stockman, Andrew, Ripamonti, Caterina, Ebenezer, Neil D., Ogun, Olufunmilola, Devery, Sophie, Wright, Genevieve A., Maher, Eamonn R., Cheetham, Michael E., Moore, Anthony T., Michaelides, Michel, Hardcastle, Alison J.
Published in American journal of human genetics (09.07.2010)
Published in American journal of human genetics (09.07.2010)
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Journal Article
A novel missense mutation in both OPN1LW and OPN1MW cone opsin genes causes X-linked cone dystrophy (XLCOD5)
Gardner, Jessica C, Webb, Tom R, Kanuga, Naheed, Robson, Anthony G, Holder, Graham E, Stockman, Andrew, Ripamonti, Caterina, Ebenezer, Neil D, Ogun, Olufunmilola, Devery, Sophie, Wright, Genevieve A, Maher, Eamonn R, Cheetham, Michael E, Moore, Anthony T, Michaelides, Michel, Hardcastle, Alison J
Published in Advances in experimental medicine and biology (2012)
Published in Advances in experimental medicine and biology (2012)
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A 52-kb deletion in the SOST-MEOX1 intergenic region on 17q12-q21 is associated with van Buchem disease in the Dutch population
Staehling-Hampton, Karen, Proll, Sean, Paeper, Bryan W, Zhao, Lei, Charmley, Patrick, Brown, Analisa, Gardner, Jessica C, Galas, David, Schatzman, Randall C, Beighton, Peter, Papapoulos, Socrates, Hamersma, Herman, Brunkow, Mary E
Published in American journal of medical genetics (15.06.2002)
Published in American journal of medical genetics (15.06.2002)
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Familial streptomycin ototoxicity in a South African family: a mitochondrial disorder
Gardner, J C, Goliath, R, Viljoen, D, Sellars, S, Cortopassi, G, Hutchin, T, Greenberg, J, Beighton, P
Published in Journal of medical genetics (01.11.1997)
Published in Journal of medical genetics (01.11.1997)
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