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Monika K Grudzinska Pechhacker, Anna Molnar, Nadja Pekkola Pacheco, Håkan Thonberg, Laurence Querat, Ulrika Birkeldh, Ann Nordgren & Anna Lindstrand. (2023) Reduced cone photoreceptor function and subtle systemic manifestations in two siblings with loss of SCLT1. Ophthalmic Genetics 0:0, pages 1-8.
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Sarah Chorfi, Emily M. Place & Rachel M. Huckfeldt. (2023) Disparities in Inherited Retinal Degenerations. Seminars in Ophthalmology 38:2, pages 201-206.
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Line Kessel, Jakob Kjellberg, Kamilla Nissen, Anette Rasmussen & Morten la Cour. (2022) Childhood-onset retinal dystrophies reduces life-time income by one third - an individual based socio-economic analysis. Ophthalmic Genetics 43:5, pages 602-608.
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Brian G. Ballios, Eric A. Pierce & Rachel M. Huckfeldt. (2021) Gene editing technology: Towards precision medicine in inherited retinal diseases. Seminars in Ophthalmology 36:4, pages 176-184.
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Articles from other publishers (34)
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Quang Nguyen, William Woof, Nathaniel Kabiri, Sagnik Sen, Malena Daich Varela, Thales Antonio Cabral De Guimaraes, Mital Shah, Dayyanah Sumodhee, Ismail Moghul, Saoud Al-Khuzaei, Yichen Liu, Catherine Hollyhead, Bhavna Tailor, Loy Lobo, Carl Veal, Stephen Archer, Jennifer Furman, Gavin Arno, Manuel Gomes, Kaoru Fujinami, Savita Madhusudhan, Omar A Mahroo, Andrew R Webster, Konstantinos Balaskas, Susan M Downes, Michel Michaelides & Nikolas Pontikos. (2023) Can artificial intelligence accelerate the diagnosis of inherited retinal diseases? Protocol for a data-only retrospective cohort study (Eye2Gene). BMJ Open 13:3, pages e071043.
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Elena Daniele, Lorenzo Bosio, Noor Ahmed Hussain, Barbara Ferrari, Stefano Ferrari, Vanessa Barbaro, Brian McArdle, Nicolò Rassu, Marco Mura, Francesco Parmeggiani & Diego Ponzin. (2023) Denuded Descemet’s membrane supports human embryonic stem cell-derived retinal pigment epithelial cell culture. PLOS ONE 18:2, pages e0281404.
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Malena Daich Varela, James Bellingham, Fabiana Motta, Neringa Jurkute, Jamie M Ellingford, Mathieu Quinodoz, Kathryn Oprych, Michael Niblock, Lucas Janeschitz-Kriegl, Karolina Kaminska, Francesca Cancellieri, Hendrik P N Scholl, Eva Lenassi, Elena Schiff, Hannah Knight, Graeme Black, Carlo Rivolta, Michael E Cheetham, Michel Michaelides, Omar A Mahroo, Anthony T Moore, Andrew R Webster & Gavin Arno. (2023) Multidisciplinary team directed analysis of whole genome sequencing reveals pathogenic non-coding variants in molecularly undiagnosed inherited retinal dystrophies. Human Molecular Genetics 32:4, pages 595-607.
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Line Kessel, Jakob Kjellberg, Rikke Ibsen, Annette Rasmussen, Kamilla Rothe Nissen & Morten la Cour. (2022) Longitudinal analysis of health care costs in patients with childhood onset inherited retinal dystrophies compared to healthy controls. BMC Ophthalmology 22:1.
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Sophie Redgrave & Alisdair McNeill. (2022) A qualitative interview study of the attitudes toward reproductive options of people with genetic visual loss. Journal of Genetic Counseling 31:5, pages 1231-1234.
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Alexis Ceecee Britten‐Jones, Fleur O'Hare, Thomas L. Edwards & Lauren N. Ayton. (2022)
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Annie L. Miller, Paula I. Fuller-Carter, Klaudija Masarini, Marijana Samardzija, Kim W. Carter, Rabab Rashwan, Xin Ru Lim, Alicia A. Brunet, Abha Chopra, Ramesh Ram, Christian Grimm, Marius Ueffing, Livia S. Carvalho & Dragana Trifunović. (2022) Increased H3K27 trimethylation contributes to cone survival in a mouse model of cone dystrophy. Cellular and Molecular Life Sciences 79:8.
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Julien Delaye, Pasquale Cacciatore & Anna Kole. (2022) Valuing the “Burden” and Impact of Rare Diseases: A Scoping Review. Frontiers in Pharmacology 13.
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Julia Zhu, Kirk A. J. Stephenson, Adrian Dockery, Jacqueline Turner, James J. O’Byrne, Susan Fitzsimon, G. Jane Farrar, D. Ian Flitcroft & David J. Keegan. (2022) Electrophysiology-Guided Genetic Characterisation Maximises Molecular Diagnosis in an Irish Paediatric Inherited Retinal Degeneration Population. Genes 13:4, pages 615.
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Fei Liu, Yayun Qin, Yuwen Huang, Pan Gao, Jingzhen Li, Shanshan Yu, Danna Jia, Xiang Chen, Yuexia Lv, Jiayi Tu, Kui Sun, Yunqiao Han, James Reilly, Xinhua Shu, Qunwei Lu, Zhaohui Tang, Chengqi Xu, Daji Luo & Mugen Liu. (2022) Rod genesis driven by mafba in an nrl knockout zebrafish model with altered photoreceptor composition and progressive retinal degeneration. PLOS Genetics 18:3, pages e1009841.
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Juliana M. F. Sallum, Vinay Preet Kaur, Javed Shaikh, Judit Banhazi, Claudio Spera, Celia Aouadj, Daniel Viriato & M. Dominik Fischer. (2022) Epidemiology of Mutations in the 65-kDa Retinal Pigment Epithelium (RPE65) Gene-Mediated Inherited Retinal Dystrophies: A Systematic Literature Review. Advances in Therapy 39:3, pages 1179-1198.
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Rose M Gilbert, Dayyanah Sumodhee, Nikolas Pontikos, Catherine Hollyhead, Angus Patrick, Samuel Scarles, Sabrina Van Der Smissen, Rodrigo M Young, Nick Nettleton, Andrew R Webster & Jocelyn Cammack. (2022) Collaborative Research and Development of a Novel, Patient-Centered Digital Platform (MyEyeSite) for Rare Inherited Retinal Disease Data: Acceptability and Feasibility Study. JMIR Formative Research 6:1, pages e21341.
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Marlene Glatz, Regina Riedl, Wilfried Glatz, Mona Schneider, Andreas Wedrich, Matthias Bolz & Rupert W. Strauss. (2022) Blindness and visual impairment in Central Europe. PLOS ONE 17:1, pages e0261897.
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Beau J. Fenner, Tien-En Tan, Amutha Veluchamy Barathi, Sai Bo Bo Tun, Sia Wey Yeo, Andrew S. H. Tsai, Shu Yen Lee, Chui Ming Gemmy Cheung, Choi Mun Chan, Jodhbir S. Mehta & Kelvin Y. C. Teo. (2022) Gene-Based Therapeutics for Inherited Retinal Diseases. Frontiers in Genetics 12.
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Aniz Girach, Isabelle Audo, David G. Birch, Rachel M. Huckfeldt, Byron L. Lam, Bart P. Leroy, Michel Michaelides, Stephen R. Russell, Juliana M.F. Sallum, Katarina Stingl, Stephen H. Tsang & Paul Yang. (2022) RNA-based therapies in inherited retinal diseases. Therapeutic Advances in Ophthalmology 14, pages 251584142211346.
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Malena Daich Varela, Burak Esener, Shaima A Hashem, Thales Antonio Cabral de Guimaraes, Michalis Georgiou & Michel Michaelides. (2021) Structural evaluation in inherited retinal diseases. British Journal of Ophthalmology 105:12, pages 1623-1631.
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Tien-En Tan, Hwei Wuen Chan, Mandeep Singh, Tien Yin Wong, Jose S Pulido, Michel Michaelides, Elliott H Sohn & Daniel Ting. (2021) Artificial intelligence for diagnosis of inherited retinal disease: an exciting opportunity and one step forward. British Journal of Ophthalmology 105:9, pages 1187-1189.
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Yu Fujinami-Yokokawa, Hideki Ninomiya, Xiao Liu, Lizhu Yang, Nikolas Pontikos, Kazutoshi Yoshitake, Takeshi Iwata, Yasunori Sato, Takeshi Hashimoto, Kazushige Tsunoda, Hiroaki Miyata & Kaoru Fujinami. (2021) Prediction of causative genes in inherited retinal disorder from fundus photography and autofluorescence imaging using deep learning techniques. British Journal of Ophthalmology 105:9, pages 1272-1279.
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Mar Valero-Vello, Cristina Peris-Martínez, José J. García-Medina, Silvia M. Sanz-González, Ana I. Ramírez, José A. Fernández-Albarral, David Galarreta-Mira, Vicente Zanón-Moreno, Ricardo P. Casaroli-Marano & María D. Pinazo-Duran. (2021) Searching for the Antioxidant, Anti-Inflammatory, and Neuroprotective Potential of Natural Food and Nutritional Supplements for Ocular Health in the Mediterranean Population. Foods 10:6, pages 1231.
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Adrian Dockery, Laura Whelan, Pete Humphries & G. Jane Farrar. (2021) Next-Generation Sequencing Applications for Inherited Retinal Diseases. International Journal of Molecular Sciences 22:11, pages 5684.
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