Browse by UCL people
Group by: Type | Date
Number of items: 321.
2026
Quinodoz, Mathieu;
Rodenburg, Kim;
Cvackova, Zuzana;
Kaminska, Karolina;
de Bruijn, Suzanne E;
Iglesias-Romero, Ana Belén;
Boonen, Erica GM;
... Rivolta, Carlo; + view all
(2026)
De novo and inherited dominant variants in U4 and U6 snRNA genes cause retinitis pigmentosa.
Nature Genetics
10.1038/s41588-025-02451-4.
(In press).
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2025
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Allon, Gilad;
Lin, Siying;
Robson, Anthony G;
Arno, Gavin;
Neveu, Magella M;
Hysi, Pirro G;
Michaelides, Michel;
... Mahroo, Omar A; + view all
(2025)
Clinical, Genetic, Imaging and Electrophysiological Findings in a Cohort of Patients With GUCA1A-Associated Retinopathy.
Investigative Ophthalmology & Visual Science (IOVS)
, 66
(2)
, Article 50. 10.1167/iovs.66.2.50.
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Britten-Jones, Alexis Ceecee;
Al-Khuzaei, Saoud;
Rizzi, Matteo;
Crossland, Michael D;
Rozanowska, Malgorzata B;
Mendes, Bernardo S;
de Guimaraes, Thales AC;
... Stargardt's Connected; + view all
(2025)
Stargardt's Connected Research Network Inaugural Meeting: Landscape Review and Horizon Scanning of Stargardt Disease.
Translational Vision Science & Technology
, 14
(9)
, Article 26. 10.1167/tvst.14.9.26.
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Busson, Sophie L;
Naeem, Arifa;
Ferrara, Silvia;
Sarcar, Shilpita;
Adefila-Ideozu, Toyin;
Wells, Sarah;
El Alami, Sophia;
... Lane, Amelia; + view all
(2025)
KCNV2-Deficient Retinal Organoid Model of Cone Dystrophy—In Vitro Screening for AAV Gene Replacement Therapy.
International Journal of Molecular Sciences
, 27
(1)
, Article 449. 10.3390/ijms27010449.
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Daich Varela, Malena;
Romo-Aguas, Juan Carlo;
Guarascio, Rosellina;
Ziaka, Kalliopi;
Aguila, Monica;
Hau, Kwan-Leong;
Li, Yumei;
... Michaelides, Michel; + view all
(2025)
RHO-Associated Retinitis Pigmentosa: Genetics, Phenotype, Natural History, Functional Assays, and Animal Model – In Preparation for Clinical Trials.
Investigative Ophthalmology Visual Science
, 66
(9)
, Article 69. 10.1167/iovs.66.9.69.
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Duncan, Jacque L;
Maguire, Maureen G;
McDaniel, Lee S;
Doucet, Nicole R;
Audo, Isabelle;
Ayala, Allison R;
Cheetham, Janet K;
... Foundation Fighting Blindness Clinical Consortium Investigator, Group; + view all
(2025)
Characterization of Visual Field Loss Over 4 Years in the Rate of Progression in USH2A-Related Retinal Degeneration (RUSH2A) Study.
American Journal of Ophthalmology
, 276
pp. 9-21.
10.1016/j.ajo.2025.03.039.
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Fiorini, Claudio;
Jurkute, Neringa;
Torraco, Alessandra;
La Morgia, Chiara;
Ghezzi, Daniele;
Tioli, Gaia;
Rigobello, Laura;
... Caporali, Leonardo; + view all
(2025)
Recessive variants in mitochondrial Complex I nuclear subunits are an underrated cause of optic atrophy.
Brain
, Article awaf422. 10.1093/brain/awaf422.
(In press).
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Hughes, Mark J;
Lamey, Tina;
Schiff, Elena R;
Lin, Siying;
Mclaren, Terri;
Thompson, Jennifer;
Stephenson, Kirk AJ;
... Mahroo, Omar A; + view all
(2025)
Sex Distributions in the Most Frequent Autosomal Genetic Causes of Retinitis Pigmentosa.
Investigative Ophthalmology & Visual Science
, 66
(11)
, Article 77. 10.1167/iovs.66.11.77.
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Mata, Nathan L;
Weng, Stephanie;
Michaelides, Michel;
Charbel Issa, Peter;
Quinodoz, Mathieu;
Rivolta, Carlo;
Scholl, Hendrik PN;
(2025)
Bisretinoids as a Source of Early Photoreceptor Pathology in Stargardt Disease.
Ophthalmic Research
10.1159/000549368.
(In press).
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Michaelides, M;
Besirli, CG;
Bainbridge, J;
(2025)
A plain language summary of the phase 1/2 study of AAV5-hRKp.RPGR (botaretigene sparoparvovec) in people with RPGR-associated X-linked retinitis pigmentosa.
Future Rare Diseases
, 5
(1)
, Article 2535273. 10.1080/23995270.2025.2535273.
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Michaelides, Michel;
Laich, Yannik;
Wong, Sui Chien;
Oluonye, Ngozi;
Zaman, Serena;
Kumaran, Neruban;
Kalitzeos, Angelos;
... Bainbridge, James WB; + view all
(2025)
Gene therapy in children with AIPL1-associated severe retinal dystrophy: an open-label, first-in-human interventional study.
The Lancet
, 405
(10479)
pp. 648-657.
10.1016/S0140-6736(24)02812-5.
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Sen, Sagnik;
De Guimaraes, Thales Antonio Cabral;
Filho, Aluisio Gameiro;
Fabozzi, Lorenzo;
Pearson, Rachael A;
Michaelides, Michel;
(2025)
Stem cell-based therapies for retinal diseases: focus on clinical trials and future prospects.
Ophthalmic Genetics
, 46
(4)
pp. 324-337.
10.1080/13816810.2024.2423784.
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Thompson, Debra A;
Jayasundera, K Thiran;
Alekseev, Oleg;
Ali, Robin R;
Amato, Alessia;
Arshavsky, Vadim Y;
Audo, Isabelle S;
... Monaciano Consortium; + view all
(2025)
Addressing Challenges in Developing Treatments for Inherited Retinal Diseases: Recommendations From the Third Monaciano Symposium.
Translational Vision Science & Technology
, 14
(8)
, Article 37. 10.1167/tvst.14.8.37.
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Vaughan, Megan;
Denmead, Philip;
Tay, Nicole;
Rajendram, Ranjan;
Michaelides, Michel;
Patterson, Emily;
(2025)
How early can we detect diabetic retinopathy? A narrative review of imaging tools for structural assessment of the retina.
Graefe's Archive for Clinical and Experimental Ophthalmology
10.1007/s00417-025-06828-3.
(In press).
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Zhang, Jingwen;
de Guimaraes, Thales AC;
Thompson, Dorothy;
Michaelides, Michel;
(2025)
Shwachman-Diamond syndrome associated with rod-cone dystrophy.
Retinal Cases & Brief Reports
, 19
(2)
pp. 125-156.
10.1097/ICB.0000000000001568.
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2024
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Bauwens, Miriam;
Celik, Elifnaz;
Zur, Dinah;
Lin, Siying;
Quinodoz, Mathieu;
Michaelides, Michel;
Webster, Andrew R;
... Ben-Yosef, Tamar; + view all
(2024)
Mutations in SAMD7 cause autosomal-recessive macular dystrophy with or without cone dysfunction.
The American Journal of Human Genetics
, 111
(2)
pp. 393-402.
10.1016/j.ajhg.2024.01.001.
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Birtel, Johannes;
Caswell, Richard;
De Silva, Samantha R;
Herrmann, Philipp;
Rehman, Salwah;
Lotery, Andrew J;
Mahroo, Omar A;
... Issa, Peter Charbel; + view all
(2024)
IMPG2-Related Maculopathy.
American Journal of Ophthalmology
, 258
pp. 32-42.
10.1016/j.ajo.2023.10.002.
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Calzetti, Giacomo;
Schwarzwälder, Kerstin;
Ottonelli, Giorgia;
Kaminska, Karolina;
Strauss, Rupert Wolfgang;
Baere, Elfride De;
Leroy, Bart P;
... Scholl, Hendrik PN; + view all
(2024)
Genetic Testing of Patients with Inherited Retinal Diseases in the European Countries. An International Survey by the European Vision Institute.
Ophthalmic Research
, 67
(1)
pp. 448-457.
10.1159/000540607.
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Cornelis, Stéphanie S;
IntHout, Joanna;
Runhart, Esmee H;
Grunewald, Olivier;
Lin, Siying;
Corradi, Zelia;
Khan, Mubeen;
... Study, Group; + view all
(2024)
Representation of Women Among Individuals With Mild Variants in ABCA4-Associated Retinopathy: A Meta-Analysis.
JAMA Ophthalmology
10.1001/jamaophthalmol.2024.0660.
(In press).
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Daich Varela, M;
Schlottmann, P;
Luna Pinto, J;
Michaelides, M;
(2024)
Diagnostic Odyssey of More than 1000 Patients with Inherited Retinal Diseases.
Ophthalmology
, 131
(2)
pp. 251-253.
10.1016/j.ophtha.2023.10.017.
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Daich Varela, Malena;
Dixit, Mira;
Kalitzeos, Angelos;
Michaelides, Michel;
(2024)
Adaptive Optics Retinal Imaging in RDH12-Associated Early Onset Severe Retinal Dystrophy.
Investigative Ophthalmology & Visual Science
, 65
(3)
, Article 9. 10.1167/iovs.65.3.9.
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Daich Varela, Malena;
Schiff, Elena;
Malka, Samantha;
Wright, Genevieve;
Mahroo, Omar A;
Webster, Andrew R;
Michaelides, Michel;
(2024)
PHYH c.678+5G>T Leads to In-Frame Exon Skipping and Is Associated With Attenuated Refsum Disease.
Investigative Ophthalmology & Visual Science
, 65
(2)
, Article 38. 10.1167/iovs.65.2.38.
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de Guimaraes, Thales AC;
Lai, Francesco;
Colombatti, Raffaella;
Sato, Giovanni;
Rizzo, Roberta;
Kalitzeos, Angelos;
Michaelides, Michel;
(2024)
Structural and functional characterization of an individual with the M285R KCNV2 hypomorphic allele.
Ophthalmic Genetics
pp. 1-10.
10.1080/13816810.2024.2324046.
(In press).
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Dhoble, Pankaja;
De Guimarães, Thales AC;
Webster, Andrew R;
Michaelides, Michel;
(2024)
Mild retinitis pigmentosa, including sector retinitis pigmentosa associated with 2 pathogenic variants in CDH23.
Ophthalmic Genetics
, 45
(5)
pp. 516-521.
10.1080/13816810.2024.2362210.
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Dhoble, Pankaja;
Robson, Anthony G;
Webster, Andrew R;
Michaelides, Michel;
(2024)
Typical best vitelliform dystrophy secondary to biallelic variants in BEST1.
Ophthalmic Genetics
, 45
(1)
pp. 38-43.
10.1080/13816810.2023.2188227.
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Fujinami-Yokokawa, Yu;
Joo, Kwangsic;
Liu, Xiao;
Tsunoda, Kazushige;
Kondo, Mineo;
Ahn, Seong Joon;
Robson, Anthony G;
... East Asia Inherited Retinal Disease Society Study Group*; + view all
(2024)
Distinct Clinical Effects of Two RP1L1 Hotspots in East Asian Patients With Occult Macular Dystrophy (Miyake Disease): EAOMD Report 4.
Investigative Ophthalmology & Visual Science
, 65
(1)
, Article 41. 10.1167/iovs.65.1.41.
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Georgiou, Michalis;
Robson, Anthony G;
Fujinami, Kaoru;
de Guimarães, Thales AC;
Fujinami-Yokokawa, Yu;
Daich Varela, Malena;
Pontikos, Nikolas;
... Michaelides, Michel; + view all
(2024)
Phenotyping and genotyping inherited retinal diseases: Molecular genetics, clinical and imaging features, and therapeutics of macular dystrophies, cone and cone-rod dystrophies, rod-cone dystrophies, leber congenital amaurosis, and cone dysfunction syndromes.
Progress in Retinal and Eye Research
, 100
, Article 101244. 10.1016/j.preteyeres.2024.101244.
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Georgiou, Michalis;
Shakarchi, Ahmed F;
Elhusseiny, Abdelrahman M;
Michaelides, Michel;
Sallam, Ahmed B;
(2024)
Cataract Surgery Outcomes in Retinitis Pigmentosa A Comparative Clinical Database Study.
American Journal of Ophthalmology
, 262
pp. 34-39.
10.1016/j.ajo.2024.01.037.
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Ghoshal, Biraja;
Woof, William;
Mendes, Bernardo;
Al-Khuzaei, Saoud;
Guimaraes, Thales Antonio Cabral De;
Varela, Malena Daich;
Liu, Yichen;
... Pontikos, Nikolas; + view all
(2024)
Making Deep Learning Models Clinically Useful - Improving Diagnostic Confidence in Inherited Retinal Disease with Conformal Prediction.
In: Sudre, Carole H and Mehta, Raghav and Ouyang, Cheng and Qin, Chen and Rakic, Marianne and III, William M Wells, (eds.)
Uncertainty for Safe Utilization of Machine Learning in Medical Imaging. UNSURE 2024.
(pp. pp. 47-58).
Springer: Cham, Switzerland.
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Grimaldi, Gabriela;
Menghini, Moreno;
Mahroo, Omar;
Webster, Andrew;
Michaelides, Michel;
Peng, Claudia Liang;
Egan, Catherine;
(2024)
Outer Retinal Columnar Abnormalities (ORCA): a novel optical coherence tomography sign of CRB1 maculopathy?
Retina
, 44
(11)
pp. 2013-2018.
10.1097/IAE.0000000000004223.
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Grosspoetzl, Manuel;
Riedl, Regina;
Schliessleder, Gernot;
Hu, Zhihong Jewel;
Michaelides, Michel;
Sadda, SriniVas;
Birch, David;
... Strauss, Rupert W; + view all
(2024)
Progression of PROM1-Associated Retinal Degeneration as Determined by Spectral-Domain Optical Coherence Tomography Over a 24-Month Period.
American Journal of Ophthalmology
, 259
pp. 109-116.
10.1016/j.ajo.2023.11.010.
(In press).
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Hashem, SA;
Georgiou, M;
Fujinami-Yokokawa, Y;
Laich, Y;
Varela, MD;
de Guimaraes, TAC;
Ali, N;
... Michaelides, M; + view all
(2024)
Genetics, Clinical Characteristics, and Natural History of PDE6B-Associated Retinal Dystrophy.
American Journal of Ophthalmology
, 263
pp. 1-10.
10.1016/j.ajo.2024.02.005.
(In press).
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Igelman, Austin D;
White, Elizabeth;
Tayyib, Alaa;
Everett, Lesley;
Vincent, Ajoy;
Heon, Elise;
Zeitz, Christina;
... Pennesi, Mark Edward; + view all
(2024)
Characterising the refractive error in paediatric patients with congenital stationary night blindness: a multicentre study.
British Journal of Ophthalmology
10.1136/bjo-2023-323747.
(In press).
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Kalitzeos, A;
Michaelides, M;
Dubra, A;
(2024)
Minimum intensity projection of embossed quadrant-detection images for improved photoreceptor mosaic visualisation.
Frontiers in Ophthalmology
, 4
10.3389/fopht.2024.1349297.
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Laich, Yannik;
Georgiou, Michalis;
Fujinami, Kaoru;
Varela, Malena Daich;
Fujinami-Yokokawa, Yu;
Hashem, Shaima Awadh;
Cabral de Guimaraes, Thales Antonio;
... Michaelides, Michel; + view all
(2024)
Best Vitelliform Macular Dystrophy Natural History Study Report 1: Clinical Features and Genetic Findings.
Ophthalmology
10.1016/j.ophtha.2024.01.027.
(In press).
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Liu, James;
He, Yi;
Lwin, Cara;
Han, Marina;
Guan, Bin;
Naik, Amelia;
Bender, Chelsea;
... Hufnagel, Robert B; + view all
(2024)
Neuropathy target esterase activity defines phenotypes among PNPLA6 disorders.
Brain
, 147
(6)
pp. 2085-2097.
10.1093/brain/awae055.
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Michaelides, Michel;
Besirli, Cagri G;
Yang, Yesa;
De Guimaraes, Thales AC;
Chien, W Sui;
Huckfeldt, Rachel M;
Comander, Jason I;
... Bainbridge, James; + view all
(2024)
Phase 1/2 AAV5-hRKp.RPGR (Botaretigene Sparoparvovec) Gene Therapy: Safety and Efficacy in RPGR-associated X-linked Retinitis Pigmentosa.
American Journal of Ophthalmology
10.1016/j.ajo.2024.05.034.
(In press).
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Mishra, AV;
Vermeirsch, S;
Lin, S;
Martin-Gutierrez, MP;
Simcoe, M;
Pontikos, N;
Schiff, E;
... Mahroo, OA; + view all
(2024)
Sex Distributions in Non-ABCA4 Autosomal Macular Dystrophies.
Investigative Ophthalmology & Visual Science
, 65
(5)
, Article 9. 10.1167/iovs.65.5.9.
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Parekh, B;
Duncan, JL;
Samarakoon, L;
Melia, M;
Abalem, MF;
Andrews, CA;
Audo, I;
... Jayasundera, KT; + view all
(2024)
Self-Reported Functional Vision in USH2A-Associated Retinal Degeneration as Measured by the Michigan Retinal Degeneration Questionnaire.
Investigative Ophthalmology & Visual Science
, 65
(6)
, Article 5. 10.1167/iovs.65.6.5.
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Sen, Sagnik;
Fabozzi, Lorenzo;
Fujinami, Kaoru;
Fujinami-Yokokawa, Yu;
Wright, Genevieve A;
Webster, Andrew;
Mahroo, Omar;
... Michaelides, Michel; + view all
(2024)
IQCB1 (NPHP5)-Retinopathy: Clinical and Genetic Characterization and Natural History.
American Journal of Ophthalmology
, 264
pp. 205-215.
10.1016/j.ajo.2024.03.009.
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Sladen, Paul E;
Naeem, Arifa;
Adefila-Ideozu, Toyin;
Vermeule, Tijmen;
Busson, Sophie L;
Michaelides, Michel;
Naylor, Stuart;
... Georgiadis, Anastasios; + view all
(2024)
AAV-RPGR Gene Therapy Rescues Opsin Mislocalisation in a Human Retinal Organoid Model of <i>RPGR</i>-Associated X-Linked Retinitis Pigmentosa.
International Journal of Molecular Sciences
, 25
(3)
, Article 1839. 10.3390/ijms25031839.
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Vaughan, Megan;
Tay, Nicole;
Kalitzeos, Angelos;
Kane, Thomas;
Singh, Nav;
Zheng, Adrian;
Dixit, Mira;
... Patterson, Emily J; + view all
(2024)
Changes in Waveguiding Cone Photoreceptors and Color Vision in Patients With Diabetes Mellitus.
Investigative Ophthalmology & Visual Science (IOVS)
, 65
(14)
p. 28.
10.1167/iovs.65.14.28.
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Vergaro, Andrea;
Pankievic, Monika;
Jedlickova, Jana;
Dudakova, Lubica;
Vajter, Marie;
Michaelides, Michel;
Meliska, Martin;
... Liskova, Petra; + view all
(2024)
Disease-Causing TIMP3 Variants and Deep Phenotyping of Two Czech Families with Sorsby Fundus Dystrophy Associated with Novel p.(Tyr152Cys) Mutation.
International Journal of Molecular Sciences
, 25
(7)
, Article 3744. 10.3390/ijms25073744.
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2023
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Awadh Hashem, Shaima;
Georgiou, Michalis;
Ali, Robin R;
Michaelides, Michel;
(2023)
RPGR-Related Retinopathy: Clinical Features, Molecular Genetics, and Gene Replacement Therapy.
Cold Spring Harbor Perspectives in Medicine
10.1101/cshperspect.a041280.
(In press).
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Berry, Vanita;
Ionides, Alexander;
Georgiou, Michalis;
Quinlan, Roy A;
Michaelides, Michel;
(2023)
Multimorbidity due to novel pathogenic variants in the WFS1/RP1/NOD2 genes: autosomal dominant congenital lamellar cataract, retinitis pigmentosa and Crohn’s disease in a British family.
BMJ Open Ophthalmology
, 8
(1)
, Article e001252. 10.1136/bmjophth-2023-001252.
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Daich Varela, M;
Conti, GM;
Malka, S;
Vaclavik, V;
Mahroo, OA;
Webster, AR;
Tran, V;
(2023)
Coats-like Vasculopathy in Inherited Retinal Disease: Prevalence, Characteristics, Genetics, and Management.
Ophthalmology
10.1016/j.ophtha.2023.07.027.
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Daich Varela, M;
Wong, SW;
Kiray, G;
Schlottmann, PG;
Arno, G;
Shams, ANA;
Mahroo, OA;
... Michaelides, M; + view all
(2023)
Detailed Clinical, Ophthalmic, and Genetic Characterization of ADGRV1-Associated Usher Syndrome.
American Journal of Ophthalmology
, 256
pp. 186-195.
10.1016/j.ajo.2023.06.026.
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Daich Varela, Malena;
Duignan, Emma S;
De Silva, Samantha R;
Ba-Abbad, Rola;
Fujinami-Yokokawa, Yu;
Leo, Shaun;
Fujinami, Kaoru;
... Michaelides, Michel; + view all
(2023)
CERKL-associated retinal dystrophy: Genetics, Phenotype and Natural History.
Ophthalmology Retina
10.1016/j.oret.2023.06.007.
(In press).
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Daich Varela, Malena;
Moya, Rene;
Azevedo Souza Amaral, Rebeca;
Schlottmann, Patricio G;
Álvarez Mendiara, Alejandro;
Francone, Aníbal;
Guazi Resende, Rosane;
... Ferraz Sallum, Juliana Maria; + view all
(2023)
Clinical and genetic characterization of RDH12-retinal dystrophy in a South American cohort.
Ophthalmology Retina
10.1016/j.oret.2023.09.007.
(In press).
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Daich Varela, Malena;
Sen, Sagnik;
De Guimaraes, Thales Antonio Cabral;
Kabiri, Nathaniel;
Pontikos, Nikolas;
Balaskas, Konstantinos;
Michaelides, Michel;
(2023)
Artificial intelligence in retinal disease: clinical application, challenges, and future directions.
Graefe's Archive for Clinical and Experimental Ophthalmology
10.1007/s00417-023-06052-x.
(In press).
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Duncan, Jacque L;
Cheng, Peiyao;
Maguire, Maureen G;
Ayala, Allison A;
Birch, David G;
Cheetham, Janet K;
Durham, Todd A;
... Foundation Fighting Blindness Consortium Investigator Group; + view all
(2023)
Static Perimetry in the Rate of Progression in USH2A-related Retinal Degeneration (RUSH2A) Study: Assessment through Two Years.
American Journal of Ophthalmology
, 250
pp. 103-110.
10.1016/j.ajo.2023.02.002.
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Duncan, JL;
Liang, W;
Maguire, MG;
Porco, TC;
Wong, J;
Audo, I;
Cava, JA;
... Carroll, J; + view all
(2023)
Change in Cone Structure Over 24 Months in USH2A-Related Retinal Degeneration.
American Journal of Ophthalmology
, 252
pp. 77-93.
10.1016/j.ajo.2023.03.006.
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Fujinami, Kaoru;
Waheed, Nadia;
Laich, Yannik;
Yang, Paul;
Fujinami-Yokokawa, Yu;
Higgins, Joseph J;
Lu, Jonathan T;
... Michaelides, Michel; + view all
(2023)
Stargardt macular dystrophy and therapeutic approaches.
British Journal of Ophthalmology
bjo-2022.
10.1136/bjo-2022-323071.
(In press).
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Georgiou, Michalis;
Fujinami, Kaoru;
Robson, Anthony G;
Fujinami-Yokokawa, Yu;
Shakarchi, Ahmed F;
Ji, Marco H;
Uwaydat, Sami H;
... Michaelides, Michel; + view all
(2023)
RBP3-retinopathy - inherited high myopia and retinal dystrophy: Genetic Characterization, Natural History, and Deep Phenotyping.
American Journal of Ophthalmology
10.1016/j.ajo.2023.09.025.
(In press).
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Lenassi, Eva;
Carvalho, Ana;
Thormann, Anja;
Abrahams, Liam;
Arno, Gavin;
Fletcher, Tracy;
Hardcastle, Claire;
... Ellingford, Jamie M; + view all
(2023)
EyeG2P: an automated variant filtering approach improves efficiency of diagnostic genomic testing for inherited ophthalmic disorders.
Journal of Medical Genetics
10.1136/jmg-2022-108618.
(In press).
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Michaelides, Michel;
Hirji, Nashila;
Wong, Sui Chien;
Besirli, Cagri G;
Zaman, Serena;
Kumaran, Neruban;
Georgiadis, Anastasios;
... Bainbridge, James; + view all
(2023)
First-in-Human Gene Therapy Trial of AAV8-hCARp.hCNGB3 in Adults and Children With CNGB3-associated Achromatopsia.
American Journal of Ophthalmology
, 253
pp. 243-251.
10.1016/j.ajo.2023.05.009.
|
|
Nguyen, Quang;
Woof, William;
Kabiri, Nathaniel;
Sen, Sagnik;
Daich Varela, Malena;
Cabral De Guimaraes, Thales Antonio;
Shah, Mital;
... Eye2Gene Patient Advisory Group; + view all
(2023)
Can artificial intelligence accelerate the diagnosis of inherited retinal diseases? Protocol for a data-only retrospective cohort study (Eye2Gene).
BMJ Open
, 13
(3)
, Article e071043. 10.1136/bmjopen-2022-071043.
|
|
Schließleder, Gernot;
Kalitzeos, Angelos;
Kasilian, Melissa;
Singh, Navjit;
Wang, Ziyuan;
Hu, Zhihong;
Großpötzl, Manuel;
... Strauss, Rupert W; + view all
(2023)
Deep phenotyping of PROM1-associated retinal degeneration.
British Journal of Ophthalmology
10.1136/bjo-2022-322036.
|
|
Schlottmann, Patricio G;
Luna, José D;
Labat, Natalia;
Yadarola, María Belén;
Bainttein, Silvina;
Esposito, Evangelina;
Ibañez, Agustina;
... Daich Varela, Malena; + view all
(2023)
Nationwide genetic analysis of more than 600 families with inherited eye diseases in Argentina.
npj Genomic Medicine
, 8
, Article 8. 10.1038/s41525-023-00352-1.
|
|
|
Simcoe, Mark J;
Arno, Gavin;
Hysi, Pirro G;
Ko, Tony;
Michaelides, Michel;
Hammond, Christopher J;
Patel, Praveen J;
... UK Biobank Eye and Vision Consortium*; + view all
(2023)
An Analysis of the Effect of ABCA4 p.Asn1868Ile Genotypes on Retinal Structure in 26,558 Participants in the UK Biobank.
Investigative Ophthalmology & Visual Science
, 64
(7)
, Article 31. 10.1167/iovs.64.7.31.
|
|
Strauss, Rupert W;
Ho, Alexander;
Jha, Anamika;
Fujinami, Kaoru;
Michaelides, Michel;
Cideciyan, Artur V;
Audo, Isabelle;
... ProgStar Study Group; + view all
(2023)
The progression of Stargardt Disease as determined by fundus autofluorescence over a 24-month period (ProgStar Report No. 17).
American Journal of Ophthalmology
, 250
pp. 157-170.
10.1016/j.ajo.2023.02.003.
|
|
Varela, Malena Daich;
Laich, Yannik;
Hashem, Shaima Awadh;
Mahroo, Omar A;
Webster, Andrew R;
Michaelides, Michel;
(2023)
Prognostication in Stargardt disease using Fundus Autofluorescence: Improving Patient Care.
Ophthalmology
10.1016/j.ophtha.2023.06.010.
(In press).
|
|
Veturi, Yoga Advaith;
Woof, William;
Lazebnik, Teddy;
Moghul, Ismail;
Woodward-Court, Peter;
Wagner, Siegfried K;
Cabral de Guimarães, Thales Antonio;
... Pontikos, Nikolas; + view all
(2023)
SynthEye: Investigating the Impact of Synthetic Data on Artificial Intelligence-assisted Gene Diagnosis of Inherited Retinal Disease.
Ophthalmology Science
, 3
(2)
, Article 100258. 10.1016/j.xops.2022.100258.
|
|
Wong, Wendy M;
Tham, Yih Chung;
Simunovic, Matthew P;
Chen, Fred Kuanfu;
Luu, Chi D;
Chen, Haoyu;
Jin, Zi-Bing;
... Chan, Hwei Wuen; + view all
(2023)
Rationale and protocol paper for the Asia Pacific Network for inherited eye diseases.
Asia-Pacific Journal of Ophthalmology
, Article 100030. 10.1016/j.apjo.2023.100030.
(In press).
|
2022
|
Battaglia Parodi, M;
Arrigo, A;
Chowers, I;
Jarc-Vidmar, M;
Shpigel, M;
Bandello, F;
Michaelidis, M;
(2022)
Optical coherence tomography angiography findings in pigmented paravenous chorioretinal atrophy.
Retina
, 42
(5)
pp. 915-922.
10.1097/IAE.0000000000003407.
|
|
Berry, V;
Ionides, A;
Pontikos, N;
Moore, AT;
Quinlan, RA;
Michaelides, M;
(2022)
Variants in PAX6, PITX3 and HSF4 causing autosomal dominant congenital cataracts.
Eye
, 36
pp. 1694-1701.
10.1038/s41433-021-01711-x.
|
|
Berry, V;
Pontikos, N;
Ionides, A;
Kalitzeos, A;
Quinlan, RA;
Michaelides, M;
(2022)
Pathogenic variants in the CYP21A2 gene cause isolated autosomal dominant congenital posterior polar cataracts.
Ophthalmic Genetics
, 43
(2)
pp. 218-223.
10.1080/13816810.2021.1998556.
|
|
Berry, Vanita;
Fujinami, Kaoru;
Mochizuki, Kiyofumi;
Iwata, Takeshi;
Pontikos, Nikolas;
Quinlan, Roy A;
Michaelides, Michel;
(2022)
A recurrent variant in LIM2 causes an isolated congenital sutural/lamellar cataract in a Japanese family.
Ophthalmic Genetics
10.1080/13816810.2022.2090010.
|
|
Daich Varela, Malena;
Michaelides, Michel;
(2022)
RDH12 retinopathy: clinical features, biology, genetics and future directions.
Ophthalmic Genetics
pp. 1-6.
10.1080/13816810.2022.2062392.
(In press).
|
|
Georgiou, M;
Chauhan, MZ;
Michaelides, M;
Uwaydat, SH;
(2022)
IMPG2-associated unilateral adult onset vitelliform macular dystrophy.
American Journal of Ophthalmology Case Reports
, 28
, Article 101699. 10.1016/j.ajoc.2022.101699.
(In press).
|
|
Georgiou, M;
Finocchio, L;
Fujinami, K;
Fujinami-Yokokawa, Y;
Virgili, G;
Mahroo, OA;
Webster, AR;
(2022)
X-linked Retinoschisis: Deep Phenotyping and Genetic Characterization.
Ophthalmology
, 129
(5)
pp. 542-551.
10.1016/j.ophtha.2021.11.019.
|
|
Georgiou, Michalis;
Robson, Anthony G;
Jovanovic, Katarina;
Cabral de Guimarães, Thales Antônio;
Ali, Naser;
Pontikos, Nikolas;
Uwaydat, Sami H;
... Michaelides, Michel; + view all
(2022)
RP2-associated X-linked Retinopathy: Clinical Findings, Molecular Genetics, and Natural History.
Ophthalmology
10.1016/j.ophtha.2022.11.015.
(In press).
|
|
Girach, Aniz;
Audo, Isabelle;
Birch, David G;
Huckfeldt, Rachel M;
Lam, Byron L;
Leroy, Bart P;
Michaelides, Michel;
... Yang, Paul; + view all
(2022)
RNA-based therapies in inherited retinal diseases.
Therapeutic Advances in Ophthalmology
, 14
10.1177/25158414221134602.
|
|
Glinton, Sophie L;
Calcagni, Antonio;
Lilaonitkul, Watjana;
Pontikos, Nikolas;
Vermeirsch, Sandra;
Zhang, Gongyu;
Arno, Gavin;
... Robson, Anthony G; + view all
(2022)
Phenotyping of ABCA4 Retinopathy by Machine Learning Analysis of Full-Field Electroretinography.
Translational Vision Science & Technology (TVST)
, 11
(9)
, Article 34. 10.1167/tvst.11.9.34.
|
|
Guimaraes, Thales Antonio Cabral de;
Arram, Elizabeth;
Shakarchi, Ahmed F;
Georgiou, Michalis;
Michaelides, Michel;
(2022)
Inherited causes of combined vision and hearing loss: clinical features and molecular genetics.
British Journal of Ophthalmology
10.1136/bjo-2022-321790.
|
|
Hahn, LC;
van der Veen, I;
Georgiou, M;
van Schooneveld, MJ;
ten Brink, JB;
Florijn, RJ;
Ossewaarde-van Norel, J;
... Boon, CJF; + view all
(2022)
Clinical, Genetic and Histopathological Characteristics of CRX-associated Retinal Dystrophies.
Ophthalmology Retina
10.1016/j.oret.2024.08.003.
(In press).
|
|
Hahn, Leo C;
Georgiou, Michalis;
Almushattat, Hind;
van Schooneveld, Mary J;
de Carvalho, Emanuel R;
Wesseling, Nieneke L;
Ten Brink, Jacoline B;
... Boon, Camiel JF; + view all
(2022)
The Natural History of Leber Congenital Amaurosis and Cone-Rod Dystrophy Associated with Variants in the GUCY2D Gene.
Ophthalmology Retina
10.1016/j.oret.2022.03.008.
(In press).
|
|
Hufnagel, Robert B;
Liang, Wendi;
Duncan, Jacque L;
Brewer, Carmen C;
Audo, Isabelle;
Ayala, Allison R;
Branham, Kari;
... Foundation Fighting Blindness Consortium Investigator Group; + view all
(2022)
Tissue-specific genotype-phenotype correlations among USH2A-related disorders in the RUSH2A study.
Human Mutation
, 43
(5)
pp. 613-624.
10.1002/humu.24365.
|
|
Kong, X;
Ibrahim-Ahmed, M;
Bittencourt, MG;
Strauss, RW;
Birch, DG;
Cideciyan, AV;
Ervin, A-M;
... SMART Study Group; + view all
(2022)
Longitudinal Changes in Scotopic and Mesopic Macular Function as Assessed with Microperimetry in Patients with Stargardt Disease: SMART Study Report No. 2: Short Title: Scotopic and Mesopic Macular Functions in Stargardt Disease.
American Journal of Ophthalmology
, 236
pp. 32-44.
10.1016/j.ajo.2021.10.014.
|
|
Lad, Eleonora M;
Duncan, Jacque L;
Liang, Wendi;
Maguire, Maureen G;
Ayala, Allison R;
Audo, Isabelle;
Birch, David G;
... Foundation Fighting Blindness Consortium Investigator Group; + view all
(2022)
Baseline Microperimetry and OCT in the RUSH2A Study: Structure-Function Association and Correlation with Disease Severity.
American Journal of Ophthalmology
, 244
pp. 98-116.
10.1016/j.ajo.2022.08.013.
|
|
Leung, Amy;
Sacristan-Reviriego, Almudena;
Perdigão, Pedro RL;
Sai, Hali;
Georgiou, Michalis;
Kalitzeos, Angelos;
Carr, Amanda-Jayne F;
... van der Spuy, Jacqueline; + view all
(2022)
Investigation of PTC124-mediated translational readthrough in a retinal organoid model of AIPL1-associated Leber congenital amaurosis.
Stem Cell Reports
10.1016/j.stemcr.2022.08.005.
(In press).
|
|
Majander, Anna;
Jurkute, Neringa;
Burté, Florence;
Brock, Kristian;
João, Catarina;
Huang, Houbin;
Neveu, Magella M;
... Yu-Wai-Man, Patrick; + view all
(2022)
WFS1-Associated Optic Neuropathy: Genotype-Phenotype Correlations and Disease Progression.
American Journal of Ophthalmology
, 241
pp. 9-27.
10.1016/j.ajo.2022.04.003.
|
|
Martin-Gutierrez, Maria Pilar;
Schiff, Elena R;
Wright, Genevieve;
Waseem, Naushin;
Mahroo, Omar A;
Michaelides, Michel;
Moore, Anthony T;
... Genomics England Research Consortium, .; + view all
(2022)
Dominant Cone Rod Dystrophy, Previously Assigned to a Missense Variant in RIMS1, Is Fully Explained by Co-Inheritance of a Dominant Allele of PROM1.
Investigative Ophthalmology & Visual Science
, 63
(9)
, Article 14. 10.1167/iovs.63.9.14.
|
|
Murphy, DC;
Katta, M;
Egan, CA;
Michaelides, M;
Wickham, L;
(2022)
Long-term vision outcomes for patients with albinism and diabetic retinopathy.
Graefe's Archive for Clinical and Experimental Ophthalmology
, 260
pp. 2165-2173.
10.1007/s00417-021-05313-x.
|
  |
|
Occelli, LM;
Daruwalla, A;
De Silva, SR;
Winkler, PA;
Sun, K;
Pasmanter, N;
Minella, A;
... Petersen-Jones, SM; + view all
(2022)
A large animal model of RDH5-associated retinopathy recapitulates important features of the human phenotype.
Human Molecular Genetics
, 31
(8)
pp. 1263-1277.
10.1093/hmg/ddab316.
|
|
Patterson, Emily J;
Kalitzeos, Angelos;
Kane, Thomas M;
Singh, Navjit;
Kreis, Joseph;
Pennesi, Mark E;
Hardcastle, Alison J;
... Carroll, Joseph; + view all
(2022)
Foveal Cone Structure in Patients With Blue Cone Monochromacy.
Investigative Ophthalmology & Visual Science
, 63
(11)
, Article 23. 10.1167/iovs.63.11.23.
|
|
Rizzi, M;
Powell, K;
Robinson, MR;
Matsuki, T;
Hoke, J;
Maswood, RN;
Georgiadis, A;
... Ali, RR; + view all
(2022)
Lateral gain is impaired in macular degeneration and can be targeted to restore vision in mice.
Nature Communications
, 13
, Article 2159. 10.1038/s41467-022-29666-x.
|
|
Scheepers, Marius A;
Bunce, Catey B;
Michaelides, Michel;
Hall, Brad;
(2022)
Clinical outcomes of a trifocal compared with an EDOF IOL following bilateral cataract surgery.
Canadian Journal of Ophthalmology
10.1016/j.jcjo.2022.05.005.
(In press).
|
|
Varela, Malena Daich;
Bellingham, James;
Motta, Fabiana;
Jurkute, Neringa;
Ellingford, Jamie M;
Quinodoz, Mathieu;
Oprych, Kathryn;
... Arno, Gavin; + view all
(2022)
Multi-disciplinary team directed analysis of whole genome sequencing reveals pathogenic non-coding variants in molecularly undiagnosed inherited retinal dystrophies.
Human Molecular Genetics
10.1093/hmg/ddac227.
(In press).
|
|
Varela, Malena Daich;
Georgiou, Michalis;
Alswaiti, Yahya;
Kabbani, Jamil;
Fujinami, Kaoru;
Fujinami-Yokokawa, Yu;
Khoda, Shaheeni;
... Michaelides, Michel; + view all
(2022)
CRB1-associated Retinal Dystrophies: Genetics, Clinical Characteristics and Natural History.
American Journal of Ophthalmology
10.1016/j.ajo.2022.09.002.
(In press).
|
|
Williams, Katie M;
Georgiou, Michalis;
Kalitzeos, Angelos;
Chow, Isabelle;
Hysi, Pirro G;
Robson, Anthony G;
Lingham, Gareth;
... Mahroo, Omar A; + view all
(2022)
Axial Length Distributions in Patients With Genetically Confirmed Inherited Retinal Diseases.
Investigative Ophthalmology & Visual Science
, 63
(6)
, Article 15. 10.1167/iovs.63.6.15.
|
|
Wissinger, Bernd;
Baumann, Britta;
Buena-Atienza, Elena;
Ravesh, Zeinab;
Cideciyan, Artur V;
Stingl, Katarina;
Audo, Isabelle;
... Kohl, Susanne; + view all
(2022)
The landscape of submicroscopic structural variants at the OPN1LW/OPN1MW gene cluster on Xq28 underlying blue cone monochromacy.
Proceedings of the National Academy of Sciences
, 119
(27)
, Article e2115538119. 10.1073/pnas.2115538119.
|
2021
|
100,000 Genomes Project Pilot Investigators;
Smedley, D;
Smith, KR;
Martin, A;
Thomas, EA;
McDonagh, EM;
Cipriani, V;
... Caulfield, M; + view all
(2021)
100,000 Genomes Pilot on Rare-Disease Diagnosis in Health Care — Preliminary Report.
New England Journal of Medicine
, 385
(20)
pp. 1868-1880.
10.1056/NEJMoa2035790.
|
|
Anikina, E;
Georgiou, M;
Tee, J;
Webster, AR;
Weleber, RG;
Michaelides, M;
(2021)
Characterization of Retinal Function using Microperimetry-Derived Metrics in both Adults and Children with RPGR-Associated Retinopathy.
American Journal of Ophthalmology
10.1016/j.ajo.2021.07.018.
(In press).
|
|
|
Cabral de Guimaraes, TA;
Daich Varela, M;
Georgiou, M;
Michaelides, M;
(2021)
Treatments for dry age-related macular degeneration: therapeutic avenues, clinical trials and future directions.
ritish Journal of Ophthalmology
10.1136/bjophthalmol-2020-318452.
(In press).
|
|
|
Collard, E;
Byrne, C;
Georgiou, M;
Michaelides, M;
Dixit, A;
(2021)
Joubert syndrome diagnosed renally late.
Clinical Kidney Journal
, 14
(3)
pp. 1017-1019.
10.1093/ckj/sfaa007.
|
|
|
Daich Varela, M;
Georgiou, M;
Hashem, SA;
Weleber, RG;
Michaelides, M;
(2021)
Functional evaluation in inherited retinal disease.
British Journal of Ophthalmology
10.1136/bjophthalmol-2021-319994.
(In press).
|
|
Daich Varela, M;
Cabral de Guimaraes, TA;
Georgiou, M;
Michaelides, M;
(2021)
Leber congenital amaurosis/early-onset severe retinal dystrophy: current management and clinical trials.
British Journal of Ophthalmology
10.1136/bjophthalmol-2020-318483.
(In press).
|
|
|
Daich Varela, M;
Esener, B;
Hashem, SA;
Cabral de Guimaraes, TA;
Georgiou, M;
Michaelides, M;
(2021)
Structural evaluation in inherited retinal diseases.
British Journal of Ophthalmology
10.1136/bjophthalmol-2021-319228.
(In press).
|
|
|
Georgiou, M;
Awadh Hashem, S;
Daich Varela, M;
Michaelides, M;
(2021)
Gene Therapy in X-linked Retinitis Pigmentosa Due to Defects in RPGR.
International Ophthalmology Clinics
, 61
(4)
pp. 97-108.
10.1097/IIO.0000000000000384.
|
|
Georgiou, M;
Fujinami, K;
Vincent, A;
Nasser, F;
Khateb, S;
Vargas, ME;
Thiadens, AAHJ;
... Michaelides, M; + view all
(2021)
KCNV2-Associated Retinopathy: Detailed Retinal Phenotype and Structural Endpoints—KCNV2 Study Group Report 2.
American Journal of Ophthalmology
, 230
pp. 1-11.
10.1016/j.ajo.2021.03.004.
|
|
Georgiou, M;
Robson, AG;
Fujinami, K;
Leo, SM;
Vincent, A;
Nasser, F;
Cabral De Guimarães, TA;
... Michaelides, M; + view all
(2021)
KCNV2-associated Retinopathy: Genetics, Electrophysiology and Clinical Course – KCNV2 Study Group Report 1.
American Journal of Ophthalmology
, 225
pp. 95-107.
10.1016/j.ajo.2020.11.022.
|
|
Georgiou, M;
Ali, N;
Yang, E;
Grewal, PS;
Rotsos, T;
Pontikos, N;
Robson, AG;
(2021)
Extending the phenotypic spectrum of PRPF8, PRPH2, RP1 and RPGR, and the genotypic spectrum of early-onset severe retinal dystrophy.
Orphanet Journal of Rare Diseases
, 16
(1)
, Article 128. 10.1186/s13023-021-01759-8.
|
|
|
Georgiou, M;
Fujinami, K;
Michaelides, M;
(2021)
Inherited retinal diseases: Therapeutics, clinical trials and end points—A review.
Clinical & Experimental Ophthalmology
10.1111/ceo.13917.
(In press).
|
|
|
Hanumunthadu, D;
Keane, PA;
Balaskas, K;
Dubis, AM;
Kalitzeos, A;
Michaelides, M;
Patel, PJ;
(2021)
Agreement Between Spectral-Domain and Swept-Source Optical Coherence Tomography Retinal Thickness Measurements in Macular and Retinal Disease.
Ophthalmology and Therapy
, 10
pp. 913-920.
10.1007/s40123-021-00377-8.
|
|
Igelman, AD;
Ku, C;
da Palma, MM;
Georgiou, M;
Schiff, ER;
Lam, BL;
Sankila, E-M;
... Pennesi, ME; + view all
(2021)
Expanding the clinical phenotype in patients with disease causing variants associated with atypical Usher syndrome.
Ophthalmic Genetics
, 42
(6)
pp. 664-673.
10.1080/13816810.2021.1946704.
|
|
Jurkute, N;
D'Esposito, F;
Robson, AG;
Pitceathly, RDS;
Cordeiro, F;
Raymond, FL;
Moore, AT;
... Genomics England Research Consortium; + view all
(2021)
SSBP1-Disease Update: Expanding the Genetic and Clinical Spectrum, Reporting Variable Penetrance and Confirming Recessive Inheritance.
Investigative Ophthalmology & Visual Science
, 62
(15)
, Article 12. 10.1167/iovs.62.15.12.
|
|
|
Kousal, B;
Majer, F;
Vlaskova, H;
Dvorakova, L;
Piherova, L;
Meliska, M;
Langrova, H;
... Liskova, P; + view all
(2021)
Pigmentary retinopathy can indicate the presence of pathogenic LAMP2 variants even in somatic mosaic carriers with no additional signs of Danon disease.
Acta Ophthalmologica
, 99
(1)
pp. 61-68.
10.1111/aos.14478.
|
|
Kroeger, H;
Grandjean, JMD;
Chiang, W-CJ;
Bindels, DD;
Mastey, R;
Okalova, J;
Nguyen, A;
... Lin, JH; + view all
(2021)
ATF6 is essential for human cone photoreceptor development.
Proceedings of the National Academy of Sciences (PNAS)
, 118
(39)
, Article e2103196118. 10.1073/pnas.2103196118.
|
|
Kumaran, N;
Robson, AG;
Michaelides, M;
(2021)
A Novel Case Series Of NMNAT1-Associated Early-Onset Retinal Dystrophy: Extending the Phenotypic Spectrum.
Retinal Cases & Brief Reports
, 15
(2)
pp. 139-144.
10.1097/ICB.0000000000000754.
|
|
Litts, KM;
Woertz, EN;
Georgiou, M;
Patterson, EJ;
Lam, BL;
Fishman, GA;
Pennesi, ME;
... Carroll, J; + view all
(2021)
Optical Coherence Tomography Artifacts Are Associated With Adaptive Optics Scanning Light Ophthalmoscopy Success in Achromatopsia.
Translational Vision Science & Technology
, 10
(1)
, Article 11. 10.1167/tvst.10.1.11.
|
|
|
Litts, KM;
Woertz, EN;
Wynne, N;
Brooks, BP;
Chacon, A;
Connor, TB;
Costakos, D;
... Carroll, J; + view all
(2021)
Examining Whether AOSLO-Based Foveal Cone Metrics in Achromatopsia and Albinism Are Representative of Foveal Cone Structure.
Translational Vision Science & Technology
, 10
(6)
, Article 22. 10.1167/tvst.10.6.22.
|
|
|
Müller, PL;
Treis, T;
Alsaedi, A;
Webster, AR;
Khaw, P;
Michaelides, M;
Wickham, L;
... Egan, C; + view all
(2021)
Foveal structure and visual function in nanophthalmos and posterior microphthalmos.
British Journal of Ophthalmology
10.1136/bjophthalmol-2020-318717.
(In press).
|
|
|
Muthiah, MN;
Kalitzeos, A;
Oprych, K;
Singh, N;
Georgiou, M;
Wright, GA;
Robson, AG;
... Michaelides, M; + view all
(2021)
Novel disease-causing variant in RDH12 presenting with autosomal dominant retinitis pigmentosa.
British Journal of Ophthalmology
10.1136/bjophthalmol-2020-318034.
(In press).
|
|
|
Nassisi, M;
Smirnov, V;
Hernandez, CS;
Mohand-Saïd, S;
Condroyer, C;
Antonio, A;
Kühlewein, L;
... Audo, I; + view all
(2021)
CNGB1-related rod-cone dystrophy: A mutation review and update.
Human Mutation
, 42
(6)
pp. 641-666.
10.1002/humu.24205.
|
|
|
Ribeiro, J;
Procyk, CA;
West, EL;
O'Hara-Wright, M;
Martins, MF;
Khorasani, MM;
Hare, A;
... Ali, RR; + view all
(2021)
Restoration of visual function in advanced disease after transplantation of purified human pluripotent stem cell-derived cone photoreceptors.
Cell Reports
, 35
(3)
, Article 109022. 10.1016/j.celrep.2021.109022.
|
|
|
Sangermano, R;
Deitch, I;
Peter, VG;
Ba-Abbad, R;
Place, EM;
Zampaglione, E;
Wagner, NE;
... Bujakowska, KM; + view all
(2021)
Broadening INPP5E phenotypic spectrum: detection of rare variants in syndromic and non-syndromic IRD.
npj Genomic Medicine
, 6
, Article 53. 10.1038/s41525-021-00214-8.
|
|
|
Shalabi, O;
Nazzal, Z;
Natsheh, M;
Iriqat, S;
Michaelides, M;
Ghanem, M;
Aslanian, A;
... AlTalbishi, A; + view all
(2021)
Swept-source optical coherence tomography changes and visual acuity among Palestinian retinitis Pigmentosa patients: a cross-sectional study.
BMC Ophthalmology
, 21
, Article 289. 10.1186/s12886-021-02047-6.
|
|
|
Sheck, L;
Degli-Esposti, S;
Mahroo, O;
Arno, G;
Pontikos, N;
Webster, A;
Khan, K;
(2021)
Panel-Based Genetic Testing for Inherited Retinal Disease screening 176 Genes.
Molecular Genetics and Genomic Medicine
, Article e1663. 10.1002/mgg3.1663.
(In press).
|
|
|
Tan, T-E;
Chan, HW;
Singh, M;
Wong, TY;
Pulido, JS;
Michaelides, M;
Sohn, EH;
(2021)
Artificial intelligence for diagnosis of inherited retinal disease: an exciting opportunity and one step forward.
British Journal of Ophthalmology
10.1136/bjophthalmol-2021-319365.
(In press).
|
|
|
Waisberg, E;
Georgiou, M;
Michaelides, M;
Rajendram, R;
(2021)
Unilateral congenital non-syndromic retinal vessel dilation and tortuosity.
American Journal of Ophthalmology Case Reports
, 23
, Article 101160. 10.1016/j.ajoc.2021.101160.
|
|
|
Xuan-Thanh-An, N;
Almushattat, H;
Strubbe, I;
Georgiou, M;
Li, CHZ;
van Schooneveld, MJ;
Joniau, I;
... Boon, CJF; + view all
(2021)
The Phenotypic Spectrum of Patients with PHARC Syndrome Due to Variants in ABHD12: An Ophthalmic Perspective.
Genes
, 12
(9)
, Article 1404. 10.3390/genes12091404.
|
|
|
Zaman, S;
Kane, T;
Katta, M;
Georgiou, M;
Michaelides, M;
(2021)
Photoaversion in inherited retinal diseases: clinical phenotypes, biological basis, and qualitative and quantitative assessment.
Ophthalmic Genetics
10.1080/13816810.2021.2015789.
(In press).
|
|
2020
|
Afshar, F;
Arno, G;
Ba-Abbad, R;
Degli Esposti, S;
Michaelides, M;
Webster, A;
Mahroo, O;
(2020)
Awareness of olfactory impairment in a cohort of patients with CNGB1-associated retinitis pigmentosa.
Eye
, 34
pp. 783-784.
10.1038/s41433-019-0609-6.
|
|
Ba-Abbad, R;
Arno, G;
Robson, AG;
Bouras, K;
Georgiou, M;
Wright, G;
Webster, AR;
(2020)
Macula-predominant retinopathy associated with biallelic variants in RDH12.
Ophthalmic Genetics
, 41
(6)
pp. 612-615.
10.1080/13816810.2020.1802763.
|
|
Ba-Abbad, R;
Robson, AG;
Mahroo, OA;
Wright, G;
Schiff, E;
Duignan, ES;
Michaelides, M;
... Webster, AR; + view all
(2020)
A clinical study of patients with novel CDHR1 genotypes associated with late-onset macular dystrophy.
Eye
10.1038/s41433-020-1045-3.
(In press).
|
|
|
Berry, V;
Georgiou, M;
Fujinami, K;
Quinlan, R;
Moore, A;
Michaelides, M;
(2020)
Inherited cataracts: molecular genetics, clinical features, disease mechanisms and novel therapeutic approaches.
British Journal of Ophthalmology
10.1136/bjophthalmol-2019-315282.
(In press).
|
|
|
Berry, V;
Ionides, A;
Pontikos, N;
Georgiou, M;
Yu, J;
Ocaka, LA;
Moore, AT;
... Michaelides, M; + view all
(2020)
The genetic landscape of crystallins in congenital cataract.
Orphanet Journal of Rare Diseases
, 15
, Article 333. 10.1186/s13023-020-01613-3.
|
|
|
Berry, V;
Ionides, A;
Pontikos, N;
Moghul, I;
Moore, AT;
Quinlan, RA;
Michaelides, M;
(2020)
Whole Exome Sequencing Reveals Novel and Recurrent Disease-Causing Variants in Lens Specific Gap Junctional Protein Encoding Genes Causing Congenital Cataract.
Genes
, 11
(5)
, Article 512. 10.3390/genes11050512.
|
|
|
Berry, V;
Pontikos, N;
Dudakova, L;
Moore, AT;
Quinlan, R;
Liskova, P;
Michaelides, M;
(2020)
A novel missense mutation in LIM2 causing isolated autosomal dominant congenital cataract.
Ophthalmic Genetics
, 41
(2)
pp. 131-134.
10.1080/13816810.2020.1737950.
|
|
Birch, DG;
Cheng, P;
Duncan, JL;
Ayala, AR;
Maguire, MG;
Audo, I;
Cheetham, JK;
... Foundation Fighting Blindness Consortium Investigator Group, .; + view all
(2020)
The RUSH2A Study: Best-Corrected Visual Acuity, Full-Field Electroretinography Amplitudes, and Full-Field Stimulus Thresholds at Baseline.
Translational Vision Science & Technology
, 9
(11)
pp. 87-100.
10.1167/tvst.9.11.9.
|
|
|
Casalino, G;
Khan, KN;
Armengol, M;
Wright, G;
Pontikos, N;
Georgiou, M;
Webster, AR;
... Michaelides, M; + view all
(2020)
Autosomal recessive bestrophinopathy: clinical features, natural history and genetic findings in preparation for clinical trials.
Ophthalmology
10.1016/j.ophtha.2020.10.006.
(In press).
|
|
|
Chan, WO;
Brennan, N;
Webster, AR;
Michealides, M;
Muqit, MMK;
(2020)
Retinal detachment in retinitis pigmentosa.
BMJ Open Ophthalmology
, 5
(1)
, Article e000454. 10.1136/bmjophth-2020-000454.
|
|
|
Cipriani, V;
Pontikos, N;
Arno, G;
Sergouniotis, PI;
Lenassi, E;
Thawong, P;
Danis, D;
... Smedley, D; + view all
(2020)
An Improved Phenotype-Driven Tool for Rare Mendelian Variant Prioritization: Benchmarking Exomiser on Real Patient Whole-Exome Data.
Genes
, 11
(4)
, Article 460. 10.3390/genes11040460.
|
|
|
De Bruijn, SE;
Fiorentino, A;
Ottaviani, D;
Fanucchi, S;
Melo, US;
Corral-Serrano, JC;
Mulders, T;
... Hardcastle, AJ; + view all
(2020)
Structural Variants Create New Topological-Associated Domains and Ectopic Retinal Enhancer-Gene Contact in Dominant Retinitis Pigmentosa.
American Journal of Human Genetics
10.1016/j.ajhg.2020.09.002.
(In press).
|
|
|
De Carvalho, ER;
Robson, AG;
Arno, G;
Boon, C;
Webster, AA;
Michaelides, M;
(2020)
Enhanced S-cone syndrome: spectrum of clinical, imaging, electrophysiological and genetic findings in a retrospective case series of 56 patients.
Ophthalmology Retina
10.1016/j.oret.2020.07.008.
(In press).
|
|
|
De Silva, SR;
Arno, G;
Robson, AG;
Fakin, A;
Pontikos, N;
Mohamed, MD;
Bird, A;
... Mahroo, OA; + view all
(2020)
The X-linked retinopathies: Physiological insights, pathogenic mechanisms, phenotypic features and novel therapies.
Progress in Retinal and Eye Research
, Article 100898. 10.1016/j.preteyeres.2020.100898.
(In press).
|
|
|
Duncan, JL;
Liang, W;
Maguire, MG;
Audo, I;
Ayala, AR;
Birch, DG;
Carroll, J;
... Foundation Fighting Blindness Consortium Investigator Group; + view all
(2020)
Baseline Visual Field Findings in the RUSH2A Study: Associated Factors and Correlation with Other Measures of Disease Severity.
American Journal of Ophthalmology
, 219
pp. 87-100.
10.1016/j.ajo.2020.05.024.
|
|
Galvin, O;
Chi, G;
Brady, L;
Hippert, C;
Del Valle Rubido, M;
Daly, A;
Michaelides, M;
(2020)
The Impact of Inherited Retinal Diseases in the Republic of Ireland (ROI) and the United Kingdom (UK) from a Cost-of-Illness Perspective.
Clinical Ophthalmology
, 14
pp. 707-719.
10.2147/OPTH.S241928.
|
|
|
Georgiou, M;
McAnena, L;
Michaelides, M;
Reddy, MA;
(2020)
Incidental unilateral idiopathic maculopathy in children.
Journal of American Association for Pediatric Ophthalmology and Strabismus
, 24
(6)
357.e1-357.e6.
10.1016/j.jaapos.2020.08.009.
|
|
Georgiou, M;
Grewal, PS;
Narayan, A;
Alser, M;
Ali, N;
Fujinami, K;
Webster, AR;
(2020)
Sector Retinitis Pigmentosa: Extending the Molecular Genetics Basis and Elucidating the Natural History.
American Journal of Ophthalmology
10.1016/j.ajo.2020.08.004.
(In press).
|
|
|
Georgiou, M;
Litts, KM;
Singh, N;
Kane, T;
Patterson, EJ;
Hirji, N;
Kalitzeos, A;
... Carroll, J; + view all
(2020)
Intraobserver Repeatability and Interobserver Reproducibility of Foveal Cone Density Measurements in CNGA3- and CNGB3-Associated Achromatopsia.
Translational Vision Science & Technology
, 9
(7)
, Article 37. 10.1167/tvst.9.7.37.
|
|
Georgiou, M;
Singh, N;
Kane, T;
Robson, AG;
Kalitzeos, A;
Hirji, N;
Webster, AR;
... Michaelides, M; + view all
(2020)
Photoreceptor Structure in GNAT2-Associated Achromatopsia.
Investigative Ophthalmology & Visual Science
, 61
(3)
, Article 40. 10.1167/iovs.61.3.40.
|
|
|
Georgiou, M;
Singh, N;
Kane, T;
Zaman, S;
Hirji, N;
Aboshiha, J;
Kumaran, N;
... Michaelides, M; + view all
(2020)
Long-Term Investigation of Retinal Function in Patients with Achromatopsia.
Investigative Ophthalmology & Visual Science
, 61
(11)
, Article 38. 10.1167/iovs.61.11.38.
|
|
|
Georgiou, Michalis;
(2020)
Retinal Phenotyping of Inherited Retinal Diseases.
Doctoral thesis (Ph.D), UCL (University College London).
|
|
Grewal, PS;
Knight, H;
Michaelides, M;
(2020)
Asymmetric choroidal hypopigmentation in a Son and mother with Waardenburg syndrome type I.
Ophthalmic Genetics
, 41
(3)
pp. 284-287.
10.1080/13816810.2020.1750037.
|
|
Guimaraes, TACD;
Georgiou, M;
Bainbridge, JWB;
Michaelides, M;
(2020)
Gene therapy for neovascular age-related macular degeneration: rationale, clinical trials and future directions.
British Journal of Ophthalmology
10.1136/bjophthalmol-2020-316195.
(In press).
|
|
|
Guimaraes, TACD;
Georgiou, M;
Robson, AG;
Michaelides, M;
(2020)
KCNV2 retinopathy: clinical features, molecular genetics and directions for future therapy.
Ophthalmic Genetics
10.1080/13816810.2020.1766087.
(In press).
|
|
|
Hirji, N;
Theodorou, M;
Bainbridge, JW;
Venturi, N;
Michaelides, M;
(2020)
Nystagmus and optical coherence tomography findings in CNGB3-associated achromatopsia.
Journal of American Association for Pediatric Ophthalmology and Strabismus
, 24
(2)
82.e1-82.e7.
10.1016/j.jaapos.2019.11.013.
|
|
Khan, KN;
Borooah, S;
Lando, L;
Dans, K;
Mahroo, OA;
Meshi, A;
Kalitzeos, A;
... Michaelides, M; + view all
(2020)
Quantifying the Separation Between the Retinal Pigment Epithelium and Bruch's Membrane using Optical Coherence Tomography in Patients with Inherited Macular Degeneration.
Translational Vision Science & Technology
, 9
(6)
, Article 26. 10.1167/tvst.9.6.26.
|
|
|
Kumaran, N;
Ali, RR;
Tyler, NA;
Bainbridge, JWB;
Michaelides, M;
Rubin, GS;
(2020)
Validation of a Vision-Guided Mobility Assessment for RPE65-Associated Retinal Dystrophy.
Translational Vision Science & Technology
, 9
(10)
, Article 5. 10.1167/tvst.9.10.5.
|
|
|
Kumaran, N;
Georgiou, M;
Bainbridge, JWB;
Bertelsen, M;
Larsen, M;
Blanco-Kelly, F;
Ayuso, C;
... Michaelides, M; + view all
(2020)
Retinal Structure in RPE65-Associated Retinal Dystrophy.
Investigative Ophthalmology & Visual Science
, 61
(4)
, Article 47. 10.1167/iovs.61.4.47.
|
|
|
Linderman, RE;
Georgiou, M;
Woertz, EN;
Cava, JA;
Litts, KM;
Tarima, S;
Rajendram, R;
... Carroll, J; + view all
(2020)
Preservation of the Foveal Avascular Zone in Achromatopsia Despite the Absence of a Fully Formed Pit.
Investigative Ophthalmology & Visual Science
, 61
(10)
, Article 52. 10.1167/iovs.61.10.52.
|
|
|
Litts, KM;
Georgiou, M;
Langlo, CS;
Patterson, EJ;
Mastey, RR;
Kalitzeos, A;
Linderman, RE;
... Carroll, J; + view all
(2020)
Interocular Symmetry of Foveal Cone Topography in Congenital Achromatopsia.
Current Eye Research
, 45
(10)
pp. 1257-1264.
10.1080/02713683.2020.1737138.
|
|
Litts, KM;
Okada, M;
Heeren, TFC;
Kalitzeos, A;
Rocco, V;
Mastey, RR;
Singh, N;
... Egan, C; + view all
(2020)
Longitudinal Assessment of Remnant Foveal Cone Structure in a Case Series of Early Macular Telangiectasia Type 2.
Translational Vision Science & Technology
, 9
(4)
, Article 27. 10.1167/tvst.9.4.27.
|
|
|
Makuloluwa, AK;
Dodeja, R;
Georgiou, M;
Gonzalez-Martin, J;
Hagan, R;
Madhusudhan, S;
Michaelides, M;
(2020)
Oliver McFarlane syndrome and choroidal neovascularisation: a case report.
Ophthalmic Genetics
, 41
(5)
pp. 451-456.
10.1080/13816810.2020.1783689.
|
|
Martin-Gutierrez, MP;
Georgiou, M;
Michaelides, M;
(2020)
Subfoveal retinal detachment associated with dome-shaped macula in a 6 year-old child: Comparison with other case reports and systematic review of the literature regarding dome-shaped macula in children.
American Journal of Ophthalmology Case Reports
, 19
, Article 100821. 10.1016/j.ajoc.2020.100821.
|
|
|
Moravikova, J;
Kozmik, Z;
Hlavata, L;
Putzova, M;
Skalicka, P;
Michaelides, M;
Malinka, F;
... Liskova, P; + view all
(2020)
Phenotype Variability in Czech Patients Carrying PAX6
Disease-Causing Variants.
Folia Biologica
, 66
(4)
pp. 123-132.
|
|
O'Brien, J;
Taylor, JP;
Ballard, C;
Barker, RA;
Bradley, C;
Burns, A;
Collerton, D;
... Ffytche, D; + view all
(2020)
Visual hallucinations in neurological and ophthalmological disease: pathophysiology and management.
Journal of Neurology, Neurosurgery & Psychiatry
10.1136/jnnp-2019-322702.
(In press).
|
|
|
Pontikos, N;
Arno, G;
Jurkute, N;
Schiff, E;
Ba-Abbad, R;
Malka, S;
Gimenez, A;
... Mahroo, OA; + view all
(2020)
Genetic basis of inherited retinal disease in a molecularly characterised cohort of over 3000 families from the United Kingdom.
Ophthalmology
10.1016/j.ophtha.2020.04.008.
(In press).
|
|
|
Poulter, JA;
Gravett, MSC;
Taylor, RL;
Fujinami, K;
De Zaeytijd, J;
Bellingham, J;
Rehman, AU;
... Inglehearn, CF; + view all
(2020)
New variants and in silico analyses in GRK1 associated Oguchi disease.
Human Mutation
10.1002/humu.24140.
(In press).
|
|
|
Rahman, N;
Georgiou, M;
Khan, KN;
Michaelides, M;
(2020)
Macular dystrophies: clinical and imaging features, molecular genetics and therapeutic options.
British Journal of Ophthalmology
, 104
(4)
10.1136/bjophthalmol-2019-315086.
|
|
|
Sacristan-Reviriego, A;
Le, HM;
Georgiou, M;
Meunier, I;
Bocquet, B;
Roux, A-F;
Prodromou, C;
... van der Spuy, J; + view all
(2020)
Clinical and functional analyses of AIPL1 variants reveal mechanisms of pathogenicity linked to different forms of retinal degeneration.
Scientific Reports
, 10
(1)
, Article 17520. 10.1038/s41598-020-74516-9.
|
|
|
Schiff, ER;
Varela, MD;
Robson, AG;
Pierpoint, K;
Ba-Abbad, R;
Nutan, S;
Zein, WM;
... Webster, AR; + view all
(2020)
A genetic and clinical study of individuals with nonsyndromic retinopathy consequent upon sequence variants in HGSNAT, the gene associated with Sanfilippo C mucopolysaccharidosis.
American Journal of Medical Genetics Part C: Seminars in Medical Genetics
10.1002/ajmg.c.31822.
(In press).
|
|
|
Schönbach, EM;
Strauss, RW;
Ibrahim, MA;
Janes, JL;
Birch, DG;
Cideciyan, AV;
Sunness, JS;
... ProgStar study group; + view all
(2020)
Faster Sensitivity Loss around Dense Scotomas than for Overall Macular Sensitivity in Stargardt Disease: ProgStar Report No. 14.
American Journal of Ophthalmology
, 216
pp. 219-225.
10.1016/j.ajo.2020.03.020.
(In press).
|
|
|
Strong, SA;
Peto, T;
Bunce, C;
Xing, W;
Georgiou, M;
Esposti, SD;
Kalitzeos, A;
... Michaelides, M; + view all
(2020)
Prospective exploratory study to assess the safety and efficacy of aflibercept in cystoid macular oedema associated with retinitis pigmentosa.
British Journal of Ophthalmology
10.1136/bjophthalmol-2019-315152.
|
|
|
Tanner, A;
Chan, HW;
Pulido, J;
Arno, G;
Ba-Abbad, R;
Jurkute, N;
Robson, A;
... Mahroo, O; + view all
(2020)
Clinical and genetic findings in CTNNA1-associated macular pattern dystrophy.
Ophthalmology
10.1016/j.ophtha.2020.10.032.
(In press).
|
|
|
Thaventhiran, JED;
Lango Allen, H;
Burren, OS;
Rae, W;
Greene, D;
Staples, E;
Zhang, Z;
... Smith, KGC; + view all
(2020)
Whole-genome sequencing of a sporadic primary immunodeficiency cohort.
Nature
, 583
pp. 90-95.
10.1038/s41586-020-2265-1.
|
|
Thompson, DA;
Iannaccone, A;
Ali, RR;
Arshavsky, VY;
Audo, I;
Bainbridge, JWB;
Besirli, CG;
... Zacks, DN; + view all
(2020)
Advancing clinical trials for inherited retinal diseases: Recommendations from the second monaciano symposium.
Translational Vision Science and Technology
, 9
(7)
, Article 2. 10.1167/tvst.9.7.2.
|
|
|
Turro, E;
Astle, WJ;
Megy, K;
Gräf, S;
Greene, D;
Shamardina, O;
Allen, HL;
... Ouwehand, WH; + view all
(2020)
Whole-genome sequencing of patients with rare diseases in a national health system.
Nature
, 583
pp. 96-102.
10.1038/s41586-020-2434-2.
|
2019
|
Ba-Abbad, R;
Robson, AG;
MacPhee, B;
Webster, AR;
Michaelides, M;
(2019)
Rod-cone dystrophy associated with the Gly167Asp variant in PRPH2.
Ophthalmic Genetics
, 40
(2)
pp. 188-189.
10.1080/13816810.2019.1605393.
|
|
Bouzia, Z;
Georgiou, M;
Hull, S;
Robson, AG;
Fujinami, K;
Rotsos, T;
Pontikos, N;
... Michaelides, M; + view all
(2019)
GUCY2D-Associated Leber Congenital Amaurosis: A Retrospective Natural History Study in Preparation for Trials of Novel Therapies.
American Journal of Ophthalmology
10.1016/j.ajo.2019.10.019.
(In press).
|
|
|
Fahim, AT;
Bouzia, Z;
Branham, KH;
Kumaran, N;
Vargas, ME;
Feathers, KL;
Perera, ND;
... Michaelides, M; + view all
(2019)
Detailed clinical characterisation, unique features and natural history of autosomal recessive RDH12-associated retinal degeneration.
British Journal of Ophthalmology
10.1136/bjophthalmol-2018-313580.
(In press).
|
|
Georgiou, M;
Kane, T;
Tanna, P;
Bouzia, Z;
Singh, N;
Kalitzeos, A;
Strauss, RW;
... Michaelides, M; + view all
(2019)
Prospective Cohort Study of Childhood-Onset Stargardt Disease: Fundus Autofluorescence Imaging, Progression, Comparison with Adulthood-Onset Disease, and Disease Symmetry.
American Journal of Ophthalmology
10.1016/j.ajo.2019.11.008.
(In press).
|
|
|
Georgiou, M;
Litts, KM;
Kalitzeos, A;
Langlo, CS;
Kane, T;
Singh, N;
Kassilian, M;
... Michaelides, M; + view all
(2019)
Adaptive Optics Retinal Imaging in CNGA3-Associated Achromatopsia: Retinal Characterization, Interocular Symmetry, and Intrafamilial Variability.
Investigative Ophthalmology & Visual Science
, 60
(1)
pp. 383-396.
10.1167/iovs.18-25880.
|
|
|
Georgiou, M;
Robson, AG;
Singh, N;
Pontikos, N;
Kane, T;
Hirji, N;
Ripamonti, C;
... Michaelides, M; + view all
(2019)
Deep Phenotyping of PDE6C-Associated Achromatopsia.
Investigative Ophthalmology & Visual Science
, 60
(15)
pp. 5112-5123.
10.1167/iovs.19-27761.
|
|
|
Gill, JS;
Georgiou, M;
Kalitzeos, A;
Moore, AT;
Michaelides, M;
(2019)
Progressive cone and cone-rod dystrophies: clinical features, molecular genetics and prospects for therapy.
British Journal of Ophthalmology
10.1136/bjophthalmol-2018-313278.
(In press).
|
|
|
Gorman, KM;
Meyer, E;
Grozeva, D;
Spinelli, E;
McTague, A;
Sanchis-Juan, A;
Carss, KJ;
... Kurian, MA; + view all
(2019)
Bi-allelic Loss-of-Function CACNA1B Mutations in Progressive Epilepsy-Dyskinesia.
American Journal of Human Genetics
, 104
(5)
pp. 948-956.
10.1016/j.ajhg.2019.03.005.
|
|
Hull, S;
Arno, G;
Ostergaard, P;
Pontikos, N;
Robson, AG;
Webster, AR;
Hogg, CR;
... Michaelides, M; + view all
(2019)
Clinical and Molecular Characterization of Familial Exudative Vitreoretinopathy Associated With Microcephaly.
American Journal of Ophthalmology
, 207
pp. 87-98.
10.1016/j.ajo.2019.05.001.
|
|
Jurkute, N;
Leu, C;
Pogoda, H-M;
Arno, G;
Robson, AG;
Nürnberg, G;
Altmüller, J;
... Votruba, M; + view all
(2019)
SSBP1 mutations in dominant optic atrophy with variable retinal degeneration.
Annals of Neurology
, 86
(3)
pp. 368-383.
10.1002/ana.25550.
|
|
Kousal, B;
Honzík, T;
Hansíková, H;
Ondrušková, N;
Čechová, A;
Tesařová, M;
Stránecký, V;
... Lišková, P; + view all
(2019)
Review of SRD5A3 Disease-Causing Sequence Variants and Ocular Findings in Steroid 5α-Reductase Type 3 Congenital Disorder of Glycosylation, and a Detailed New Case.
Folia Biol (Praha)
, 65
(3)
pp. 134-141.
|
|
Liew, G;
Strong, S;
Bradley, P;
Severn, P;
Moore, AT;
Webster, AR;
Mitchell, P;
... Michaelides, M; + view all
(2019)
Prevalence of cystoid macular oedema, epiretinal membrane and cataract in retinitis pigmentosa.
British Journal of Ophthalmology
, 103
(8)
pp. 1163-11661.
10.1136/bjophthalmol-2018-311964.
|
|
|
Mahroo, OA;
Khan, KN;
Wright, G;
Ockrim, Z;
Scalco, RS;
Robson, AG;
Tufail, A;
... Webster, AR; + view all
(2019)
Retinopathy Associated with Biallelic Mutations in PYGM (McArdle Disease).
Ophthalmology
, 126
(2)
pp. 320-322.
10.1016/j.ophtha.2018.09.013.
|
|
|
Mastey, RR;
Gaffney, M;
Litts, KM;
Langlo, CS;
Patterson, EJ;
Strampe, MR;
Kalitzeos, A;
... Carroll, J; + view all
(2019)
Assessing the Interocular Symmetry of Foveal Outer Nuclear Layer Thickness in Achromatopsia.
Translational Vision Science & Technology
, 8
(5)
, Article 21. 10.1167/tvst.8.5.21.
|
|
|
Mastey, RR;
Georgiou, M;
Langlo, CS;
Kalitzeos, A;
Patterson, EJ;
Kane, T;
Singh, N;
... Carroll, J; + view all
(2019)
Characterization of Retinal Structure in ATF6-Associated Achromatopsia.
Investigative Ophthalmology & Visual Science
, 60
(7)
pp. 2631-2640.
10.1167/iovs.19-27047.
|
|
|
Shona, OA;
Islam, F;
Robson, AG;
Webster, AR;
Moore, AT;
Michaelides, M;
(2019)
Pigmented Paravenous Chorioretinal Atrophy–Detailed Clinical Study of a Large Cohort.
Retina
, 39
(3)
pp. 514-529.
10.1097/IAE.0000000000001950.
|
|
Stacey, AW;
Pefkianaki, M;
Ilginis, T;
Michaelides, M;
Hykin, P;
Webster, A;
Moore, AT;
(2019)
Clinical Features and Multi-Modality Imaging of Isolated Retinal Astrocytic Hamartoma.
Ophthalmic Surgery, Lasers and Imaging Retina
, 50
(2)
E1-E9.
10.3928/23258160-20190129-12.
|
|
Strauss, RW;
Kong, X;
Bittencourt, MG;
Ho, A;
Jha, A;
Schönbach, EM;
Ahmed, MI;
... for the SMART Study Group; + view all
(2019)
Scotopic Microperimetric Assessment of Rod Function in Stargardt Disease (SMART) Study: Design and Baseline Characteristics (Report No. 1).
Ophthalmic Research
, 61
(1)
pp. 36-43.
10.1159/000488711.
|
|
Strauss, RW;
Kong, X;
Ho, A;
Jha, A;
West, S;
Ip, M;
Bernstein, PS;
... ProgStar Study Group; + view all
(2019)
Progression of Stargardt Disease as Determined by Fundus Autofluorescence Over a 12-Month Period: ProgStar Report No. 11.
JAMA Ophthalmology
10.1001/jamaophthalmol.2019.2885.
(In press).
|
|
Tanna, P;
Georgiou, M;
Strauss, RW;
Ali, N;
Kumaran, N;
Kalitzeos, A;
Fujinami, K;
(2019)
Cross-Sectional and Longitudinal Assessment of the Ellipsoid Zone in Childhood-Onset Stargardt Disease.
Translational Vision Science & Technology
, 8
(2)
p. 1.
10.1167/tvst.8.2.1.
|
|
|
Taylor, RL;
Poulter, JA;
Downes, SM;
McKibbin, M;
Khan, KN;
Inglehearn, CF;
Webster, AR;
... UKIRDC; + view all
(2019)
Loss-of-function mutations in the CFH gene affecting alternatively encoded Factor H-like 1 protein cause dominant early-onset macular drusen.
Ophthalmology
, 126
(10)
pp. 1410-1421.
10.1016/j.ophtha.2019.03.013.
|
|
|
Tee, JJL;
Yang, Y;
Kalitzeos, A;
Webster, A;
Bainbridge, J;
Michaelides, M;
(2019)
Natural History Study of Retinal Structure, Progression and Symmetry Using Ellipzoid Zone Metrics in RPGR-Associated Retinopathy.
American Journal of Ophthalmology
, 198
pp. 111-123.
10.1016/j.ajo.2018.10.003.
|
|
Wright, GA;
Georgiou, M;
Robson, AG;
Ali, N;
Kalhoro, A;
Holthaus SM, K;
Pontikos, N;
... Michaelides, M; + view all
(2019)
Juvenile Batten disease (CLN3): Detailed Ocular Phenotype, Novel Observations, Delayed Diagnosis, Masquerades, and Prospects for Therapy.
Ophthalmology Retina
10.1016/j.oret.2019.11.005.
(In press).
|
|
2018
|
Berry, V;
Ionides, ACW;
Pontikos, N;
Moghul, I;
Moore, AT;
Cheetham, ME;
Michaelides, M;
(2018)
Whole-genome sequencing reveals a recurrent missense mutation in the Connexin 46 (GJA3) gene causing autosomal-dominant lamellar cataract.
Eye
, 32
pp. 1661-1668.
10.1038/s41433-018-0154-8.
|
|
Berry, V;
Pontikos, N;
Albarca-Aguilera, M;
Plagnol, V;
Massouras, A;
Prescott, D;
Moore, AT;
... Michaelides, M; + view all
(2018)
A recurrent splice-site mutation in EPHA2 causing congenital posterior nuclear cataract.
Ophthalmic Genetics
, 39
(2)
pp. 236-241.
10.1080/13816810.2017.1381977.
|
|
Berry, V;
Pontikos, N;
Moore, A;
Ionides, ACW;
Plagnol, V;
Cheetham, ME;
Michaelides, M;
(2018)
A novel missense mutation in HSF4 causes autosomal-dominant congenital lamellar cataract in a British family.
Eye
, 32
pp. 806-812.
10.1038/eye.2017.268.
|
|
Casalino, G;
Pierro, L;
Manitto, MP;
Michaelides, M;
Bandello, F;
(2018)
Resolution of cystoid macular edema following arginine-restricted diet and vitamin B6 supplementation in a case of gyrate atrophy.
Journal of American Association for Pediatric Ophthalmology and Strabismus
, 22
(4)
pp. 321-323.
10.1016/j.jaapos.2017.12.016.
|
|
Davidson, B;
Kalitzeos, A;
Carroll, J;
Dubra, A;
Ourselin, S;
Michaelides, M;
Bergeles, C;
(2018)
Fast adaptive optics scanning light ophthalmoscope retinal montaging.
Biomedical Optics Express
, 9
(9)
pp. 4317-4328.
10.1364/BOE.9.004317.
|
|
|
Davidson, B;
Kalitzeos, A;
Carroll, J;
Dubra, A;
Ourselin, S;
Michaelides, M;
Bergeles, C;
(2018)
Automatic Cone Photoreceptor Localisation in Healthy and Stargardt Afflicted Retinas Using Deep Learning.
Scientific Reports
, 8
, Article 7911. 10.1038/s41598-018-26350-3.
|
|
|
Ellingford, JM;
Horn, B;
Campbell, C;
Arno, G;
Barton, S;
Tate, C;
Bhaskar, S;
... Black, GCM; + view all
(2018)
Assessment of the incorporation of CNV surveillance into gene panel next-generation sequencing testing for inherited retinal diseases.
Journal of Medical Genetics
, 55
(2)
pp. 114-121.
10.1136/jmedgenet-2017-104791.
|
|
Fiorentino, A;
Fujinami, K;
Arno, G;
Robson, AG;
Pontikos, N;
Arasanz Armengol, M;
Plagnol, V;
... 100,000 Genomes Project, the Japan Eye Genetic Consortium & the; + view all
(2018)
Missense variants in the X-linked gene PRPS1 cause retinal degeneration in females.
Human Mutation
, 39
(1)
pp. 80-91.
10.1002/humu.23349.
|
|
Fiorentino, A;
Yu, J;
Arno, G;
Pontikos, N;
Halford, S;
Broadgate, S;
Michaelides, M;
... U.K. Inherited Retinal Dystrophy Consortium; + view all
(2018)
Novel homozygous splicing mutations in ARL2BP cause autosomal recessive retinitis pigmentosa.
Molecular Vision
, 24
pp. 603-612.
|
|
|
Fujinami, K;
Strauss, RW;
Chiang, JP-W;
Audo, IS;
Bernstein, PS;
Birch, DG;
Bomotti, SM;
... ProgStar Study Group; + view all
(2018)
Detailed genetic characteristics of an international large cohort of patients with Stargardt disease: ProgStar study report 8.
British Journal of Ophthalmology
10.1136/bjophthalmol-2018-312064.
(In press).
|
|
|
Georgiou, M;
Kalitzeos, A;
Litts, KM;
Singh, N;
Kane, T;
Hirji, N;
Mastey, R;
... Michaelides, M; + view all
(2018)
Characterization of retinal structure in CNGB3-associated achromatopsia.
[Lecture].
Presented at: European Association for Vision and Eye Research Conference (EVER) 2018, Nice, Provence Alpes Cote, France.
|
|
Georgiou, M;
Kalitzeos, A;
Patterson, EJ;
Dubra, A;
Carroll, J;
Michaelides, M;
(2018)
Adaptive optics imaging of inherited retinal diseases.
[Review].
British Journal of Ophthalmology
, 102
(8)
pp. 1028-1035.
10.1136/bjophthalmol-2017-311328.
|
|
|
Hinds, A-M;
Fahim, A;
Moore, AT;
Wong, SC;
Michaelides, M;
(2018)
Bullous X linked retinoschisis: clinical features and prognosis.
British Journal of Ophthalmology
, 102
(5)
pp. 622-624.
10.1136/bjophthalmol-2017-310593.
|
|
|
Hirji, N;
Aboshiha, J;
Georgiou, M;
Bainbridge, J;
Michaelides, M;
(2018)
Achromatopsia: clinical features, molecular genetics, animal models and therapeutic options.
Ophthalmic Genetics
, 39
(2)
pp. 149-157.
10.1080/13816810.2017.1418389.
|
|
Hirji, N;
Bradley, PD;
Li, S;
Vincent, A;
Pennesi, ME;
Thomas, AS;
Heon, E;
... Michaelides, M; + view all
(2018)
Jalili Syndrome: Cross-sectional and Longitudinal Features of Seven Patients with Cone-Rod Dystrophy and Amelogenesis Imperfecta.
American Journal of Ophthalmology
, 188
pp. 123-130.
10.1016/j.ajo.2018.01.029.
|
|
|
Hirji, N;
Georgiou, M;
Kalitzeos, A;
Bainbridge, JW;
Kumaran, N;
Aboshiha, J;
Carroll, J;
(2018)
Longitudinal Assessment of Retinal Structure in Achromatopsia Patients With Long-Term Follow-up.
Investigative Ophthalmology & Visual Science
, 59
(15)
pp. 5735-5744.
10.1167/iovs.18-25452.
|
|
|
Introini, U;
Casalino, G;
Khan, KN;
Eandi, C;
Alovisi, C;
Michaelides, M;
Bandello, F;
(2018)
Clinical Course of Autosomal Recessive Bestrophinopathy Complicated by Choroidal Neovascularization.
Ophthalmic Surgery, Lasers and Imaging Retina
, 49
(11)
pp. 888-892.
10.3928/23258160-20181101-10.
|
|
Ito, Y;
Carss, KJ;
Duarte, ST;
Hartley, T;
Keren, B;
Kurian, MA;
Marey, I;
... Revel-Vilk, S; + view all
(2018)
De Novo Truncating Mutations in WASF1 Cause Intellectual Disability with Seizures.
American Journal of Human Genetics
, 103
(1)
pp. 144-153.
10.1016/j.ajhg.2018.06.001.
|
|
Khan, KN;
Islam, F;
Holder, GE;
Robson, A;
Webster, AR;
Moore, AT;
Michaelides, M;
(2018)
Normal Electrooculography in Best Disease and Autosomal Recessive Bestrophinopathy.
Retina
, 38
(2)
pp. 379-386.
10.1097/IAE.0000000000001523.
|
|
Khan, KN;
Islam, F;
Moore, AT;
Michaelides, M;
(2018)
The Fundus Phenotype Associated With The p.Ala243Val BEST1 Mutation.
Retina
, 38
(3)
pp. 606-613.
10.1097/IAE.0000000000001569.
|
|
Khan, KN;
Kasilian, M;
Mahroo, OAR;
Tanna, P;
Kalitzeos, A;
Robson, AG;
Tsunoda, K;
... Michaelides, M; + view all
(2018)
Early Patterns of Macular Degeneration in ABCA4-Associated Retinopathy.
Ophthalmology
, 125
(5)
pp. 735-746.
10.1016/j.ophtha.2017.11.020.
|
|
|
Khan, KN;
Robson, A;
Mahroo, OAR;
Arno, G;
Inglehearn, CF;
Armengol, M;
Waseem, N;
... UK Inherited Retinal Disease Consortium, .; + view all
(2018)
A clinical and molecular characterisation of CRB1-associated maculopathy.
European Journal of Human Genetics
, 26
pp. 687-694.
10.1038/s41431-017-0082-2.
|
|
Kong, X;
Fujinami, K;
Strauss, RW;
Munoz, B;
West, SK;
Cideciyan, AV;
Michaelides, M;
... ProgStar Study Group; + view all
(2018)
Visual Acuity Change Over 24 Months and Its Association With Foveal Phenotype and Genotype in Individuals With Stargardt Disease
ProgStar Study Report No. 10.
JAMA Ophthalmology
, 136
(8)
pp. 920-928.
10.1001/jamaophthalmol.2018.2198.
|
|
Kumaran, N;
Michaelides, M;
Smith, AJ;
Ali, RR;
Bainbridge, JWB;
(2018)
Retinal gene therapy.
British Medical Bulletin
, 126
(1)
pp. 13-25.
10.1093/bmb/ldy005.
|
|
Kumaran, N;
Ripamonti, C;
Kalitzeos, A;
Rubin, GS;
Bainbridge, JWB;
Michaelides, M;
(2018)
Severe Loss of Tritan Color Discrimination in RPE65 Associated Leber Congenital Amaurosis.
Investigative Ophthalmology & Visual Science
, 59
(1)
pp. 85-93.
10.1167/iovs.17-22905.
|
|
|
Kumaran, N;
Rubin, GS;
Kalitzeos, A;
Fujinami, K;
Bainbridge, JWB;
Weleber, RG;
Michaelides, M;
(2018)
A Cross-Sectional and Longitudinal Study of Retinal Sensitivity in RPE65-Associated Leber Congenital Amaurosis.
Investigative Ophthalmology & Visual Science
, 59
(8)
pp. 3330-3339.
10.1167/iovs.18-23873.
|
|
|
Kumaran, N;
Smith, AJ;
Michaelides, M;
Ali, R;
Bainbridge, J;
(2018)
Gene therapy for Leber congenital amaurosis.
[Review].
Expert Review of Ophthalmology
, 13
(1)
pp. 11-15.
10.1080/17469899.2018.1429916.
|
|
Li, L;
Jiao, X;
D'Atri, I;
Ono, F;
Nelson, R;
Chan, C-C;
Nakaya, N;
... Hejtmancik, JF; + view all
(2018)
Mutation in the intracellular chloride channel CLCC1 associated with autosomal recessive retinitis pigmentosa.
PLoS Genetics
, 14
(8)
, Article e1007504. 10.1371/journal.pgen.1007504.
|
|
|
Liew, G;
Moore, AT;
Bradley, PD;
Webster, AR;
Michaelides, M;
(2018)
Factors associated with visual acuity in patients with cystoid macular oedema and Retinitis Pigmentosa.
Ophthalmic Epidemiology
, 25
(3)
pp. 183-186.
10.1080/09286586.2017.1383448.
|
|
Mehat, MS;
Sundaram, V;
Ripamonti, C;
Robson, AG;
Smith, AJ;
Borooah, S;
Robinson, M;
... Bainbridge, JWB; + view all
(2018)
Transplantation of Human Embryonic Stem Cell-Derived Retinal Pigment Epithelial Cells in Macular Degeneration.
Ophthalmology
, 125
(11)
pp. 1765-1775.
10.1016/j.ophtha.2018.04.037.
|
|
Patterson, EJ;
Kalitzeos, A;
Kasilian, M;
Gardner, JC;
Neitz, J;
Hardcastle, AJ;
Neitz, M;
... Michaelides, M; + view all
(2018)
Residual Cone Structure in Patients With X-Linked Cone Opsin Mutations.
Investigative Ophthalmology & Visual Science
, 59
(10)
pp. 4238-4248.
10.1167/iovs.18-24699.
|
|
|
Schönbach, EM;
Strauss, RW;
Kong, X;
Muñoz, B;
Ibrahim, MA;
Sunness, JS;
Birch, DG;
... Hahn, GA; + view all
(2018)
Longitudinal Changes of Fixation Location and Stability Within 12 Months in Stargardt Disease: ProgStar Report No. 12.
American Journal of Ophthalmology
, 193
pp. 54-61.
10.1016/j.ajo.2018.06.003.
|
|
Schwartz, R;
Sivaprasad, S;
Macphee, R;
Ibanez, P;
Keane, PA;
Michaelides, M;
Wong, SC;
(2018)
Subclinical Macular Changes and Disease Laterality in Pediatric Coats Disease Determined by Quantitative Optical Coherence Tomography Angiography.
Retina
10.1097/IAE.0000000000002322.
(In press).
|
|
Sheck, L;
Davies, WIL;
Moradi, P;
Robson, AG;
Kumaran, N;
Liasis, AC;
Webster, AR;
... Michaelides, M; + view all
(2018)
Leber Congenital Amaurosis Associated with Mutations in CEP290, Clinical Phenotype, and Natural History in Preparation for Trials of Novel Therapies.
Ophthalmology
, 125
(6)
pp. 894-903.
10.1016/j.ophtha.2017.12.013.
|
|
|
Strauss, RW;
Muñoz, B;
Ahmed, MI;
Bittencourt, M;
Schönbach, EM;
Michaelides, M;
Birch, D;
... for the ProgStar-4 Study Group, .; + view all
(2018)
The Progression of the Stargardt Disease Type 4 (ProgStar-4) Study: Design and Baseline Characteristics (ProgStar-4 Report No. 1).
Ophthalmic Research
, 60
(3)
pp. 185-194.
10.1159/000491791.
|
|
Strong, SA;
Hirji, N;
Quartilho, A;
Kalitzeos, A;
Michaelides, M;
(2018)
Retrospective cohort study exploring whether an association exists between spatial distribution of cystoid spaces in cystoid macular oedema secondary to retinitis pigmentosa and response to treatment with carbonic anhydrase inhibitors.
British Journal of Ophthalmology
, 103
(2)
pp. 233-237.
10.1136/bjophthalmol-2017-311392.
|
|
Tanna, P;
Georgiou, M;
Aboshiha, J;
Strauss, RW;
Kumaran, N;
Kalitzeos, A;
Weleber, RG;
(2018)
Cross-Sectional and Longitudinal Assessment of Retinal Sensitivity in Patients With Childhood-Onset Stargardt Disease.
Translational Vision Science & Technology
, 7
(6)
, Article 10. 10.1167/tvst.7.6.10.
|
|
|
Tee, JJL;
Kalitzeos, A;
Webster, AR;
Peto, T;
Michaelides, M;
(2018)
Quantitative Analysis of Hyperautofluorescent Rings to Characterize the Natural History and Progression in Rpgr-associated Retinopathy.
Retina
, 38
(12)
pp. 2401-2414.
10.1097/IAE.0000000000001871.
|
|
Tee, JJL;
Yang, Y;
Kalitzeos, A;
Webster, A;
Bainbridge, J;
Weleber, RG;
Michaelides, M;
(2018)
Characterization of Visual Function, Interocular Variability and Progression Using Static Perimetry-Derived Metrics in RPGR-Associated Retinopathy.
Investigative Ophthalmology & Visual Science
, 59
(6)
pp. 2422-2436.
10.1167/iovs.17-23739.
|
|
|
Whitworth, J;
Smith, PS;
Martin, J-E;
West, H;
Luchetti, A;
Rodger, F;
Clark, G;
... Maher, ER; + view all
(2018)
Comprehensive Cancer-Predisposition Gene Testing in an Adult Multiple Primary Tumor Series Shows a Broad Range of Deleterious Variants and Atypical Tumor Phenotypes.
The American Journal of Human Genetics
, 103
(1)
pp. 3-18.
10.1016/j.ajhg.2018.04.013.
|
|
2017
|
Aboshiha, J;
Kumaran, N;
Kalitzeos, A;
Hogg, C;
Rubin, G;
Michaelides, M;
(2017)
A Quantitative and Qualitative Exploration of Photoaversion in Achromatopsia.
Investigative Ophthalmology & Visual Science
, 58
(9)
pp. 3537-3546.
10.1167/iovs.17-21935.
|
|
Arno, G;
Carss, KJ;
Hull, S;
Zihni, C;
Robson, AG;
Fiorentino, A;
Hardcastle, AJ;
... Yu, P; + view all
(2017)
Biallelic Mutation of ARHGEF18, Involved in the Determination of Epithelial Apicobasal Polarity, Causes Adult-Onset Retinal Degeneration.
The American Journal of Human Genetics
, 100
(2)
pp. 334-342.
10.1016/j.ajhg.2016.12.014.
|
|
Bergeles, C;
Dubis, AM;
Davidson, B;
Kasilian, M;
Kalitzeos, A;
Carroll, J;
Dubra, A;
... Ourselin, S; + view all
(2017)
Unsupervised identification of cone photoreceptors in non-confocal adaptive optics scanning light ophthalmoscope images.
Biomedical Optics Express
, 8
(6)
pp. 3081-3094.
10.1364/BOE.8.003081.
|
|
Carss, KJ;
Arno, G;
Erwood, M;
Stephens, J;
Sanchis-Juan, A;
Hull, S;
Megy, K;
... Raymond, FL; + view all
(2017)
Comprehensive Rare Variant Analysis via Whole-Genome Sequencing to Determine the Molecular Pathology of Inherited Retinal Disease.
American Journal of Human Genetics
, 100
(1)
pp. 75-90.
10.1016/j.ajhg.2016.12.003.
|
|
|
Cipriani, V;
Kalhoro, A;
Arno, G;
Silva, RS;
Pontikos, N;
Puech, V;
McClements, ME;
... Puech, B; + view all
(2017)
Genome-wide linkage and haplotype sharing analysis implicates the MCDR3 locus as a candidate region for a developmental macular disorder in association with digit abnormalities.
Ophthalmic Genetics
10.1080/13816810.2017.1289544.
|
|
Cipriani, V;
Silva, RS;
Arno, G;
Pontikos, N;
Kalhoro, A;
Valeina, S;
Inashkina, I;
... Moore, AT; + view all
(2017)
Duplication events downstream of IRX1 cause North Carolina macular dystrophy at the MCDR3 locus.
Scientific Reports
, 7
, Article 7512. 10.1038/s41598-017-06387-6.
|
|
Colijn, JM;
Buitendijk, GHS;
Prokofyeva, E;
Alves, D;
Cachulo, ML;
Khawaja, AP;
Cougnard-Gregoire, A;
... European Eye Epidemiology (E3) consortium, .; + view all
(2017)
Prevalence of Age-Related Macular Degeneration in Europe: The Past and the Future.
Ophthalmology
10.1016/j.ophtha.2017.05.035.
(In press).
|
|
|
Dagnelie, G;
Christopher, P;
Arditi, A;
Da Cruz, L;
Duncan, JL;
Ho, AC;
De Koo, LCO;
... Greenberg, RJ; + view all
(2017)
Performance of real-world functional vision tasks by blind subjects improves after implantation with the Argus (R) II retinal prosthesis system.
Clinical & Experimental Ophthalmology
, 45
(2)
pp. 152-159.
10.1111/ceo.12812.
|
|
|
Ellingford, JM;
Campbell, C;
Barton, S;
Bhaskar, S;
Gupta, S;
Taylor, RL;
Sergouniotis, PI;
... Black, GCM; + view all
(2017)
Validation of copy number variation analysis for next-generation sequencing diagnostics.
European Journal of Human Genetics
, 25
(6)
pp. 719-724.
10.1038/ejhg.2017.42.
|
   |
|
Fahim, AT;
Ali, N;
Blachley, T;
Michaelides, M;
(2017)
Peripheral fundus findings in X-linked retinoschisis.
British Journal of Ophthalmology
, 101
(11)
pp. 1555-1559.
10.1136/bjophthalmol-2016-310110.
|
|
|
Garcia, SE;
Jones, PR;
Reeve, EI;
Michaelides, M;
Rubin, GS;
Nardini, M;
(2017)
Multisensory Cue Combination After Sensory Loss: Audio-Visual Localization in Patients With Progressive Retinal Disease.
Journal of Experimental Psychology: Human Perception and Performance
, 43
(4)
pp. 729-740.
10.1037/xhp0000344.
|
|
Grassmann, F;
Kiel, C;
Zimmermann, ME;
Gorski, M;
Grassmann, V;
Stark, K;
Heid, IM;
(2017)
Genetic pleiotropy between age-related macular degeneration and 16 complex diseases and traits.
Genome Medicine
, 9
, Article 29. 10.1186/s13073-017-0418-0.
|
|
|
Hull, S;
Attanasio, M;
Arno, G;
Carss, K;
Robson, AG;
Thompson, DA;
Plagnol, V;
... Webster, AR; + view all
(2017)
Clinical Characterization of CNGB1-Related Autosomal Recessive Retinitis Pigmentosa.
JAMA Ophthalmol
, 135
(2)
pp. 137-144.
10.1001/jamaophthalmol.2016.5213.
|
|
Kalitzeos, A;
Samra, R;
Kasilian, M;
Tee, JJL;
Strampe, M;
Langlo, C;
Webster, AR;
... Michaelides, M; + view all
(2017)
Cellular Imaging Of The Tapetal-like Reflex In Carriers Of RPGR-associated Retinopathy.
Retina
10.1097/IAE.0000000000001965.
(In press).
|
|
|
Khan, KN;
Carss, K;
Raymond, FL;
Islam, F;
NIHR BioResource-Rare Diseases Consortium;
Moore, AT;
Michaelides, M;
(2017)
Vitamin A deficiency due to bi-allelic mutation of RBP4: There's more to it than meets the eye.
Ophthalmic Genetics
, 38
(5)
10.1080/13816810.2016.1227453.
|
|
Khan, KN;
Chana, R;
Ali, N;
Wright, G;
Webster, AR;
Moore, AT;
Michaelides, M;
(2017)
Advanced diagnostic genetic testing in inherited retinal disease: experience from a single tertiary referral centre in the UK National Health Service.
Clinical Genetics
, 91
(1)
pp. 38-45.
10.1111/cge.12798.
|
|
|
Khan, KN;
El-Asrag, ME;
Ku, CA;
Holder, GE;
McKibbin, M;
Arno, G;
Poulter, JA;
... for NIHR BioResource-Rare Diseases and UK Inherited Retinal Dise, .; + view all
(2017)
Specific Alleles of CLN7/MFSD8, a Protein That Localizes to Photoreceptor Synaptic Terminals, Cause a Spectrum of Nonsyndromic Retinal Dystrophy.
Investigative Ophthalmology & Visual Science
, 58
(7)
pp. 2906-2914.
10.1167/iovs.16-20608.
|
|
|
Khan, KN;
Lord, EC;
Arno, G;
Islam, F;
Carss, KJ;
Raymond, F;
Toomes, C;
... Michaelides, M; + view all
(2017)
Detailed Retinal Imaging in Carriers of Ocular Albinism.
Retina
, 38
(3)
pp. 620-628.
10.1097/IAE.0000000000001570.
|
|
Khan, KN;
Mahroo, OA;
Islam, F;
Webster, AR;
Moore, AT;
Michaelides, M;
(2017)
Functional and Anatomical Outcomes of Choroidal Neovascularization Complicating Best1-related Retinopathy.
Retina
, 37
(7)
pp. 1360-1370.
10.1097/IAE.0000000000001357.
|
|
Kong, X;
Strauss, RW;
Cideciyan, AV;
Michaelides, M;
Sahel, J-A;
Munoz, B;
Ahmed, M;
... ProgStar Study Group, .; + view all
(2017)
Visual Acuity Change over 12 Months in the Prospective Progression of Atrophy Secondary to Stargardt Disease (ProgStar) Study: ProgStar Report Number 6.
Ophthalmology
, 124
(11)
pp. 1640-1651.
10.1016/j.ophtha.2017.04.026.
|
|
Kong, X;
West, SK;
Strauss, RW;
Munoz, B;
Cideciyan, AV;
Michaelides, M;
Ho, A;
... ProgStar study group, .; + view all
(2017)
Progression of Visual Acuity and Fundus Autofluorescence in Recent-Onset Stargardt Disease: ProgStar Study Report #4.
Ophthalmology Retina
, 1
(6)
pp. 514-523.
10.1016/j.oret.2017.02.008.
|
|
|
Kumaran, N;
Moore, AT;
Weleber, RG;
Michaelides, M;
(2017)
Leber congenital amaurosis/early-onset severe retinal dystrophy: clinical features, molecular genetics and therapeutic interventions.
British Journal of Ophthalmology
, 101
pp. 1147-1154.
10.1136/bjophthalmol-2016-309975.
|
|
Lambertus, S;
Bax, NM;
Fakin, A;
Groenewoud, JMM;
Klevering, BJ;
Moore, AT;
Michaelides, M;
... Hoyng, CB; + view all
(2017)
Highly sensitive measurements of disease progression in rare disorders: Developing and validating a multimodal model of retinal degeneration in Stargardt disease.
PLoS ONE
, 12
(3)
, Article e0174020. 10.1371/journal.pone.0174020.
|
|
|
Majander, A;
Bowman, R;
Poulton, J;
Antcliff, RJ;
Reddy, MA;
Michaelides, M;
Webster, AR;
... Yu-Wai-Man, P; + view all
(2017)
Childhood-onset Leber hereditary optic neuropathy.
British Journal of Ophthalmology
, 101
(11)
pp. 1505-1509.
10.1136/bjophthalmol-2016-310072.
|
|
|
Oatts, JT;
Hull, S;
Michaelides, M;
Arno, G;
Webster, AR;
Moore, AT;
(2017)
Novel heterozygous mutation in YAP1 in a family with isolated ocular colobomas.
Ophthalmic Genetics
, 38
(3)
pp. 281-283.
10.1080/13816810.2016.1188122.
|
|
Pontikos, N;
Yu, J;
Moghul, I;
Withington, L;
Blanco-Kelly, F;
Vulliamy, T;
Wong, TL;
... Plagnol, V; + view all
(2017)
Phenopolis: an open platform for harmonization and analysis of genetic and phenotypic data.
Bioinformatics
, 33
(15)
pp. 2421-2423.
10.1093/bioinformatics/btx147.
|
|
Sacristan-Reviriego, A;
Bellingham, J;
Michaelides, M;
Bainbridge, J;
Prodromou, C;
van der Spuy, J;
(2017)
Mapping the mechanisms of retinal degeneration caused by mutations in the co-chaperone AIPL1.
Presented at: EMBO Conference: Protein Quality Control: Success and Failure in Health and Disease (2017), Sant Feliu de Guixols, Spain.
|
|
Sacristan-Reviriego, A;
Bellingham, J;
Prodromou, C;
Boehm, AN;
Aichem, A;
Kumaran, N;
Bainbridge, J;
... van der Spuy, J; + view all
(2017)
The integrity and organization of the human AIPL1 functional domains is critical for its role as a HSP90-dependent co-chaperone for rod PDE6.
Human Molecular Genetics
, 26
(22)
pp. 4465-4480.
10.1093/hmg/ddx334.
|
|
Schönbach, EM;
Wolfson, Y;
Strauss, RW;
Ibrahim, MA;
Kong, X;
Muñoz, B;
Birch, DG;
... Charng, J; + view all
(2017)
Macular sensitivity measured with microperimetry in stargardt disease in the progression of atrophy secondary to stargardt disease (ProgStar) study report No. 7.
JAMA Ophthalmology
, 135
(7)
pp. 696-703.
10.1001/jamaophthalmol.2017.1162.
|
|
Strauss, RW;
Muñoz, B;
Ho, A;
Jha, A;
Michaelides, M;
Cideciyan, AV;
Audo, I;
... ProgStar Study Group; + view all
(2017)
Progression of Stargardt Disease as Determined by Fundus Autofluorescence in the Retrospective Progression of Stargardt Disease Study (ProgStar Report No. 9).
JAMA Ophthalmol
, 135
(11)
pp. 1232-1241.
10.1001/jamaophthalmol.2017.4152.
|
|
Strauss, RW;
Muñoz, B;
Ho, A;
Jha, A;
Michaelides, M;
Mohand-Said, S;
Cideciyan, AV;
... ProgStar Study Group; + view all
(2017)
Incidence of Atrophic Lesions in Stargardt Disease in the Progression of Atrophy Secondary to Stargardt Disease (ProgStar) Study: Report No. 5.
JAMA Ophthalmology
, 135
(7)
pp. 687-695.
10.1001/jamaophthalmol.2017.1121.
|
|
Strong, S;
Liew, G;
Michaelides, M;
(2017)
Retinitis pigmentosa-associated cystoid macular oedema: pathogenesis and avenues of intervention.
British Journal of Ophthalmology
, 101
(1)
pp. 31-37.
10.1136/bjophthalmol-2016-309376.
|
|
|
Tanna, P;
Kasilian, M;
Strauss, R;
Tee, J;
Kalitzeos, A;
Tarima, S;
Visotcky, A;
... Michaelides, M; + view all
(2017)
Reliability and Repeatability of Cone Density Measurements in Patients With Stargardt Disease and RPGR-Associated Retinopathy.
Investigative Ophthalmology & Visual Science
, 58
(9)
pp. 3608-3615.
10.1167/iovs.17-21904.
|
|
|
Tanna, P;
Strauss, RW;
Fujinami, K;
Michaelides, M;
(2017)
Stargardt disease: clinical features, molecular genetics, animal models and therapeutic options.
British Journal of Ophthalmology
, 101
(1)
pp. 25-30.
10.1136/bjophthalmol-2016-308823.
|
|
Taylor, RL;
Arno, G;
Poulter, JA;
Khan, KN;
Morarji, J;
Hull, S;
Pontikos, N;
... UK Inherited Retinal Disease Consortium and the 100,000 Genomes; + view all
(2017)
Association of Steroid 5α-Reductase Type 3 Congenital Disorder of Glycosylation With Early-Onset Retinal Dystrophy.
JAMA Ophthalmology
, 135
(4)
pp. 339-347.
10.1001/jamaophthalmol.2017.0046.
|
|
Tee, JJL;
Carroll, J;
Webster, AR;
Michaelides, M;
(2017)
Quantitative Analysis of Retinal Structure Using Spectral-Domain Optical Coherence Tomography in RPGR-Associated Retinopathy.
American Journal of Ophthalmology
, 178
pp. 18-26.
10.1016/j.ajo.2017.03.012.
|
|
|
Xu, M;
Xie, YA;
Abouzeid, H;
Gordon, CT;
Fiorentino, A;
Sun, Z;
Lehman, A;
... Schorderet, DF; + view all
(2017)
Mutations in the Spliceosome Component CWC27 Cause Retinal Degeneration with or without Additional Developmental Anomalies.
American Journal of Human Genetics
, 100
(4)
pp. 592-604.
10.1016/j.ajhg.2017.02.008.
|
2016
|
Aboshiha, J;
Dubis, AM;
Carroll, J;
Harcastle, AJ;
Michaelides, M;
(2016)
The Cone Dysfunction Syndromes.
British Journal of Ophthalmology
, 100
(1)
pp. 115-121.
10.1136/bjophthalmol-2014-306505.
|
|
|
Arno, G;
Agrawal, SA;
Eblimit, A;
Bellingham, J;
Xu, M;
Wang, F;
Chakarova, C;
... Chen, R; + view all
(2016)
Mutations in REEP6 Cause Autosomal-Recessive Retinitis Pigmentosa.
Am J Hum Genet
, 99
(6)
pp. 1305-1315.
10.1016/j.ajhg.2016.10.008.
|
|
|
Arno, G;
Holder, GE;
Chakarova, C;
Kohl, S;
Pontikos, N;
Fiorentino, A;
Plagnol, V;
... UK Inherited Retinal Disease Consortium, .; + view all
(2016)
Recessive Retinopathy Consequent on Mutant G-Protein β Subunit 3 (GNB3).
JAMA Ophthalmology
, 134
(8)
pp. 924-927.
10.1001/jamaophthalmol.2016.1543.
|
|
Arno, G;
Hull, S;
Carss, K;
Dev-Borman, A;
Chakarova, C;
Bujakowska, K;
van den Born, I;
... Webster, AR; + view all
(2016)
Reevaluation of the Retinal Dystrophy Due to Recessive Alleles of RGR With the Discovery of a Cis-Acting Mutation in CDHR1.
Investigative Opthalmology & Visual Science
, 57
(11)
pp. 4806-4813.
10.1167/iovs.16-19687.
|
|
|
Arora, R;
Khan, K;
Kasilian, ML;
Strauss, RW;
Holder, GE;
Robson, AG;
Thompson, DA;
... Michaelides, M; + view all
(2016)
Unilateral BEST1-Associated Retinopathy.
American Journal of Ophthalmology
, 169
pp. 24-32.
10.1016/j.ajo.2016.05.024.
|
|
Burton, E;
Wattam-Bell, J;
Rubin, GS;
Aboshiha, J;
Michaelides, M;
Atkinson, J;
Braddick, O;
(2016)
Dissociations in Coherence Sensitivity Reveal Atypical Development of Cortical Visual Processing in Congenital Achromatopsia.
Investigative Ophthalmology & Visual Science
, 57
(4)
pp. 2251-2259.
10.1167/iovs.15-18414.
|
|
Cheong, SS;
Hentschel, L;
Davidson, AE;
Gerrelli, D;
Davie, R;
Rizzo, R;
Pontikos, N;
... Hardcastle, AJ; + view all
(2016)
Mutations in CPAMD8 Cause a Unique Form of Autosomal-Recessive Anterior Segment Dysgenesis.
American Journal of Human Genetics
, 99
(6)
pp. 1338-1352.
10.1016/j.ajhg.2016.09.022.
|
|
|
Da Cruz, L;
Dorn, JD;
Humayun, MS;
Dagnelie, G;
Handa, J;
Barale, P-O;
Sahel, J-A;
... Greenberg, RJ; + view all
(2016)
Five-Year Safety and Performance Results from the Argus II Retinal Prosthesis System Clinical Trial.
Ophthalmology
, 123
(10)
pp. 2248-2254.
10.1016/j.ophtha.2016.06.049.
|
|
|
Downs, LM;
Webster, AR;
Moore, AT;
Michaelides, M;
Ali, RR;
Hardcastle, AJ;
Mellersh, CS;
(2016)
Investigation of SLA4A3 as a candidate gene for human retinal disease.
Journal of Negative Results in BioMedicine
, 15
, Article 11. 10.1186/s12952-016-0054-z.
|
|
|
Fakin, A;
Robson, AG;
Chiang, JP;
Fujinami, K;
Moore, AT;
Michaelides, M;
Holder, GE;
(2016)
The Effect on Retinal Structure and Function of 15 Specific ABCA4 Mutations: A Detailed Examination of 82 Hemizygous Patients.
Investigative Ophthalmology & Visual Science
, 57
(14)
pp. 5963-5973.
10.1167/iovs.16-20446.
|
|
|
Fakin, A;
Robson, AG;
Fujinami, K;
Moore, AT;
Michaelides, M;
Pei-Wen Chiang, J;
E Holder, G;
(2016)
Phenotype and Progression of Retinal Degeneration Associated With Nullizigosity of ABCA4.
Investigative Opthalmology & Visual Science
, 57
(11)
pp. 4668-4678.
10.1167/iovs.16-19829.
|
|
Gardner, JC;
Michaelides, M;
Hardcastle, AJ;
(2016)
Cone opsins, colour blindness and cone dystrophy: Genotype-phenotype correlations.
The South African Medical Journal
, 106
(6)
S75-S78.
10.7196/SAMJ.2016.v106i6.11001.
|
|
Georgiadis, A;
Duran, Y;
Ribeiro, J;
Abelleira-Hervas, L;
Robbie, SJ;
Sünkel-Laing, B;
Fourali, S;
... Ali, RR; + view all
(2016)
Development of an optimized AAV2/5 gene therapy vector for Leber congenital amaurosis owing to defects in RPE65.
Gene Therapy
, 23
(12)
pp. 857-862.
10.1038/gt.2016.66.
|
|
|
Hull, S;
Arno, G;
Ku, CA;
Ge, Z;
Waseem, N;
Chandra, A;
Webster, AR;
... Moore, AT; + view all
(2016)
Molecular and Clinical Findings in Patients With Knobloch Syndrome.
JAMA Ophthalmology
, 134
(7)
pp. 753-762.
10.1001/jamaophthalmol.2016.1073.
|
|
Hull, S;
Arno, G;
Robson, AG;
Broadgate, S;
Plagnol, V;
McKibbin, M;
Halford, S;
... Webster, AR; + view all
(2016)
Characterization of CDH3-Related Congenital Hypotrichosis With Juvenile Macular Dystrophy.
JAMA Ophthalmol
, 134
(9)
pp. 992-1000.
10.1001/jamaophthalmol.2016.2089.
|
|
Hull, S;
Owen, N;
Islam, F;
Tracey-White, D;
Plagnol, V;
Holder, GE;
Michaelides, M;
... Moore, AT; + view all
(2016)
Nonsyndromic Retinal Dystrophy due to Bi-Allelic Mutations in the Ciliary Transport Gene IFT140.
Investigative Ophthalmology & Visual Science
, 57
(3)
pp. 1053-1062.
10.1167/iovs.15-17976.
|
|
|
Khan, KN;
Islam, F;
Moore, AT;
Michaelides, M;
(2016)
Clinical and Genetic Features of Choroideremia in Childhood.
Ophthalmology
, 123
(10)
pp. 2158-2165.
10.1016/j.ophtha.2016.06.051.
|
|
Khan, KN;
Mahroo, OA;
Khan, RS;
Mohamed, MD;
McKibbin, M;
Bird, A;
Michaelides, M;
... Moore, AT; + view all
(2016)
Differentiating drusen: Drusen and drusen-like appearances associated with ageing, age-related macular degeneration, inherited eye disease and other pathological processes.
Progress in Retinal and Eye Research
, 53
pp. 70-106.
10.1016/j.preteyeres.2016.04.008.
|
|
Kong, X;
Strauss, RW;
Michaelides, M;
Cideciyan, AV;
Sahel, J-A;
Munoz, B;
West, S;
... Grp, PS; + view all
(2016)
Visual Acuity Loss and Associated Risk Factors in the Retrospective Progression of Stargardt Disease Study (ProgStar Report No. 2).
Ophthalmology
, 123
(9)
pp. 1887-1897.
10.1016/j.ophtha.2016.05.027.
|
|
Kotecha, A;
Webster, AR;
Wright, G;
Michaelides, M;
Rubin, GS;
(2016)
Standing Balance Stability and the Effects of Light Touch in Adults With Profound Loss of Vision-An Exploratory Study.
Investigative Opthalmology & Visual Science
, 57
(11)
pp. 5053-5059.
10.1167/iovs.16-19606.
|
|
Kousal, B;
Dudakova, L;
Gaillyova, R;
Hejtmankova, M;
Diblik, P;
Michaelides, M;
Liskova, P;
(2016)
Phenotypic features of CRB1-associated early-onset severe retinal dystrophy and the different molecular approaches to identifying the disease-causing variants.
Graefe's Archive for Clinical and Experimental Ophthalmology
, 254
(9)
pp. 1833-1839.
10.1007/s00417-016-3358-2.
|
|
Mohla, A;
Khan, K;
Kasilian, M;
Michaelides, M;
(2016)
OCT angiography in the management of choroidal neovascular membrane secondary to Sorsby fundus dystrophy.
BMJ Case Reports
, 2016
10.1136/bcr-2016-216453.
|
|
|
Patterson, EJ;
Wilk, M;
Langlo, CS;
Kasilian, M;
Ring, M;
Hufnagel, RB;
Dubis, AM;
... Carroll, J; + view all
(2016)
Cone Photoreceptor Structure in Patients With X-Linked Cone Dysfunction and Red-Green Color Vision Deficiency.
INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE
, 57
(8)
pp. 3853-3863.
10.1167/iovs.16-19608.
|
|
|
Raoof, N;
Bradley, P;
Theodorou, M;
Moore, AT;
Michaelides, M;
(2016)
The New Pretender: A Large UK Case Series of Retinal Injuries in Children Secondary to Handheld Lasers.
American Journal of Ophthalmology
, 171
pp. 88-94.
10.1016/j.ajo.2016.08.027.
|
|
Strauss, RW;
Munoz, B;
Jha, A;
Ho, A;
Cideciyan, AV;
Kasilian, ML;
Wolfson, Y;
... Michaelides, M; + view all
(2016)
Comparison of Short-Wavelength Reduced-Illuminance and Conventional Autofluorescence Imaging in Stargardt Macular Dystrophy.
American Journal of Opthalmology
, 168
pp. 269-278.
10.1016/j.ajo.2016.06.003.
|
|
Strong, SA;
Gurbaxani, A;
Michaelides, M;
(2016)
Treatment of Retinitis Pigmentosa-Associated Cystoid Macular Oedema Using Intravitreal Aflibercept (Eylea) despite Minimal Response to Ranibizumab (Lucentis): A Case Report.
Case Rep Ophthalmol
, 7
(2)
pp. 389-397.
10.1159/000448427.
|
|
Tee, JJ;
Smith, AJ;
Hardcastle, AJ;
Michaelides, M;
(2016)
RPGR-associated retinopathy: clinical features, molecular genetics, animal models and therapeutic options.
British Journal of Ophthalmology
, 100
(8)
pp. 1022-1027.
10.1136/bjophthalmol-2015-307698.
|
2015
|
Aboshiha, J;
Dubis, AM;
van der Spuy, J;
Nishiguchi, KM;
Cheeseman, EW;
Ayuso, C;
Ehrenberg, M;
... Michaelides, M; + view all
(2015)
Preserved Outer Retina in AIPL1 Leber's Congenital Amaurosis: Implications for Gene Therapy.
Ophthalmology
, 122
(4)
pp. 862-864.
10.1016/j.ophtha.2014.11.019.
|
|
|
Bainbridge, JWB;
Mehat, MS;
Sundaram, V;
Robbie, SJ;
Barker, SE;
Ripamonti, C;
Georgiadis, A;
... Ali, RR; + view all
(2015)
Long-Term Effect of Gene Therapy on Leber's Congenital Amaurosis.
New England Journal of Medicine
, 372
(20)
pp. 1887-1897.
10.1056/NEJMoa1414221.
|
|
Bellingham, J;
Davidson, AE;
Aboshiha, J;
Simonelli, F;
Bainbridge, JW;
Michaelides, M;
van der Spuy, J;
(2015)
Investigation of Aberrant Splicing Induced by AIPL1 Variations as a Cause of Leber Congenital Amaurosis.
Investigative Ophthalmology & Visual Science
, 56
(13)
pp. 7784-7793.
10.1167/iovs.15-18092.
|
|
Benedetti, Sara;
Cossu, Giulio;
Tedesco, Francesco Saverio;
(2015)
Gene and Cell Therapies for Muscular Dystrophies.
In: Templeton, Nancy Smyth, (ed.)
Gene and Cell Therapy: Therapeutic Mechanisms and Strategies.
CRC Press: Boca Raton, Florida, USA.
|
|
Fujinami, K;
Zernant, J;
Chana, RK;
Wright, GA;
Tsunoda, K;
Ozawa, Y;
Tsubota, K;
... Moore, AT; + view all
(2015)
Clinical and Molecular Characteristics of Childhood-Onset Stargardt Disease.
Ophthalmology
, 122
(2)
326 - 334.
10.1016/j.ophtha.2014.08.012.
|
|
|
Strauss, RW;
Dubis, AM;
Cooper, RF;
Ba-Abbad, R;
Moore, AT;
Webster, AR;
Dubra, A;
... Michaelides, M; + view all
(2015)
Retinal Architecture in RGS9- and R9AP-Associated Retinal Dysfunction (Bradyopsia).
American Journal of Ophthalmology
, 160
(6)
1269-1275.e1.
10.1016/j.ajo.2015.08.032.
|
2014
|
Aboshiha, J;
Dubis, AM;
Cowing, J;
Fahy, RT;
Sundaram, V;
Bainbridge, JW;
Ali, RR;
... Michaelides, M; + view all
(2014)
A prospective longitudinal study of retinal structure and function in achromatopsia.
Invest Ophthalmol Vis Sci
10.1167/iovs.14-14937.
|
|
|
Gardner, JC;
Liew, G;
Quan, YH;
Ermetal, B;
Ueyama, H;
Davidson, AE;
Schwarz, N;
... Hardcastle, AJ; + view all
(2014)
Three Different Cone Opsin Gene Array Mutational Mechanisms; Genotype-Phenotype Correlation and Functional Investigation of Cone Opsin Variants.
Hum Mutat
, 35
(11)
pp. 1354-1362.
10.1002/humu.22679.
|
|
|
Liew, G;
Michaelides, M;
Bunce, C;
(2014)
A comparison of the causes of blindness certifications in England and Wales in working age adults (16-64 years), 1999-2000 with 2009-2010.
BMJ Open
, 4
(2)
10.1136/bmjopen-2013-004015.
|
|
|
Ripamonti, C;
Aboshiha, J;
Henning, B;
Sergouniotis, PI;
Michaelides, M;
Moore, AT;
Webster, AR;
(2014)
Vision in observers with enhanced S-cone syndrome: an excess of S-cones connected mainly to conventional S-cone pathways but also a faster pathway.
Investigative Ophthalmology & Visual Science
, 55
(2)
pp. 963-976.
10.1167/iovs.13-12897.
|
|
|
Stockman, A;
Henning, B;
Michaelides, M;
Moore, AT;
Webster, AR;
Cammack, J;
Ripamonti, C;
(2014)
Cone dystrophy with "supernormal" rod ERG: psychophysical testing reveals comparable rod and cone temporal sensitivity losses with no gain in rod function.
Investigative Ophthalmology & Visual Science
, 55
(2)
pp. 832-840.
10.1167/iovs.13-12919.
|
|
|
Stockman, A;
Henning, B;
Moore, AT;
Webster, AR;
Michaelides, M;
Ripamonti, C;
(2014)
Visual consequences of molecular changes in the guanylate cyclase activating protein.
Investigative Ophthalmology & Visual Science
, 55
pp. 1930-1940.
10.1167/iovs.13-13682.
|
|
2013
|
Sivaprasad, S;
Crosby-Nwaobi, R;
Esposti, S;
Peto, T;
Rajendram, R;
Michaelides, M;
Hykin, P;
(2013)
Structural and Functional Measures of Efficacy in Response to Bevacizumab Monotherapy in Diabetic Macular Oedema: Exploratory Analyses of the BOLT Study (Report 4).
PLoS One
, 8
(8)
, Article e72755. 10.1371/journal.pone.0072755.
|
|
2012
|
Tan, MH;
Mackay, DS;
Cowing, J;
Tran, HV;
Smith, AJ;
Wright, GA;
Dev-Borman, A;
... Moore, AT; + view all
(2012)
Leber congenital amaurosis associated with AIPL1: Challenges in ascribing disease causation, clinical findings, and implications for gene therapy.
PLoS ONE
, 7
(3)
10.1371/journal.pone.0032330.
|
|
|
Tan, MH;
Mackay, DS;
Cowing, J;
Tran, HV;
Smith, AJ;
Wright, GA;
Dev-Borman, A;
... Moore, AT; + view all
(2012)
Leber congenital amaurosis associated with AIPL1: challenges in ascribing disease causation, clinical findings, and implications for gene therapy.
PLoS One
, 7
(3)
, Article e32330. 10.1371/journal.pone.0032330.
|
|
|
Webb, TR;
Matarin, M;
Gardner, JC;
Kelberman, D;
Hassan, H;
Ang, W;
Michaelides, M;
... Hardcastle, AJ; + view all
(2012)
X-linked megalocornea caused by mutations in CHRDL1 identifies an essential role for ventroptin in anterior segment development.
The American Journal of Human Genetics
, 90
(2)
247 - 259.
10.1016/j.ajhg.2011.12.019.
|
|
2011
|
Buch, PK;
Mihelec, M;
Cottrill, P;
Wilkie, SE;
Pearson, RA;
Duran, Y;
West, EL;
... Hunt, DM; + view all
(2011)
Dominant Cone-Rod Dystrophy: A Mouse Model Generated by Gene Targeting of the GCAP1/Guca1a Gene.
PLOS ONE
, 6
(3)
, Article e18089. 10.1371/journal.pone.0018089.
|
|
|
Delyfer, MN;
Raffelsberger, W;
Mercier, D;
Korobelnik, JF;
Gaudric, A;
Charteris, DG;
Tadayoni, R;
... Léveillard, T; + view all
(2011)
Transcriptomic analysis of human retinal detachment reveals both inflammatory response and photoreceptor death.
PLoS One
, 6
(12)
, Article e28791. 10.1371/journal.pone.0028791.
|
|
2010
|
Audo, I;
Bujakowska, K;
Mohand-Said, S;
Lancelot, ME;
Moskova-Doumanova, V;
Waseem, NH;
Antonio, A;
... Zeitz, C; + view all
(2010)
Prevalence and novelty of PRPF31 mutations in French autosomal dominant rod-cone dystrophy patients and a review of published reports.
BMC Medical Genetics
, 11
, Article 145. 10.1186/1471-2350-11-145.
|
|
2009
|
Gardner, JC;
Michaelides, M;
Holder, GE;
Kanuga, N;
Webb, TR;
Mollon, JD;
Moore, AT;
(2009)
Blue cone monochromacy: Causative mutations and associated phenotypes.
Molecular Vision
, 15
(90-93)
876 - 884.
|
|
2005
|
Delyfer, MN;
Forster, V;
Neveux, N;
Picaud, S;
Leveillard, T;
Sahel, JA;
(2005)
Evidence for glutamate-mediated excitotoxic mechanisms during photoreceptor degeneration in the rd1 mouse retina.
Molecular vision
, 11
688 -696.
|
|
|
Delyfer, MN;
Simonutti, M;
Neveux, N;
Leveillard, T;
Sahel, JA;
(2005)
Does GDNF exert its neuroprotective effects on photoreceptors in the rd1 retina through the glial glutamate transporter GLAST?
Molecular vision
, 11
677 -687.
|
|
|
Ebenezer, ND;
Michaelides, M;
Jenkins, SA;
Audo, I;
Webster, AR;
Cheetham, ME;
Stockman, A;
... Hardcastle, AJ; + view all
(2005)
Identification of novel RPGR ORF15 mutations in X-linked progressive cone-rod dystrophy (XLCORD) families.
Investigative Ophthalmology and Visual Science
, 46
(6)
pp. 1891-1898.
10.1167/iovs.04-1482.
|
2004
|
Michaelides, Michel;
(2004)
Cone and central receptor dystrophies - A clinical and molecular genetic investigation.
Doctoral thesis (M.D), UCL (University College London).
|
|
