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The Phenotypic and Genotypic Features of ADAMTSL4-Related Ocular Disease Williams, Katie M.; Berger, Wolfgang; Koller, Samuel; Pfiffner, Fatma Kivrak; Maspoli, Alessandro; Gloggnitzer, Jiradet; Bruhwiler, Britta V. T.; Stathopoulos, Christina; Munier, Francis; Allen, Louise; Iosifidis, Christos; Black, Graeme C.; Sergouniotis, Panagiotis I.; Lloyd, Ian Christopher; Gerth-kahlert, Christina Share Save
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Inter-chromosomal insertions at Xq27.1 associated with retinal dystrophy induce dysregulation of LINC00632 and CDR1as/ciRS-7 Gardner, Jessica C.; Jovanovic, Katarina; Ottaviani, Daniele; Melo, Uira Souto; Jackson, Joshua; Guarascio, Rosellina; Ziaka, Kalliopi; Hau, Kwan-Leong; Lane, Amelia; Taylor, Rachel L.; Chai, Niuzheng; Gkertsou, Christina; Fernando, Owen; Piwecka, Monika; Georgiou, Michalis; Mundlos, Stefan; Black, Graeme C.; Moore, Anthony T.; Michaelides, Michel; Cheetham, Michael E.; Hardcastle, Alison J. Share Save
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Biallelic variants in Plexin B2 (PLXNB2) cause amelogenesis imperfecta, hearing loss and intellectual disability Smith, Claire E. L.; Laugel-Haushalter, Virginie; Hany, Ummey; Best, Sunayna; Taylor, Rachel L.; Poulter, James A.; Wortmann, Saskia B.; Feichtinger, Rene G.; Mayr, Johannes A.; Al Bahlani, Suhaila; Nikolopoulos, Georgios; Rigby, Alice; Black, Graeme C.; Watson, Christopher M.; Mansour, Sahar; Inglehearn, Chris F.; Mighell, Alan J.; Bloch-Zupan, Agnes Share Save
Clinical, biochemical and molecular analysis in a cohort of individuals with gyrate atrophy Palmer, Eleanor; Stepien, Karolina M.; Campbell, Christopher; Barton, Stephanie; Iosifidis, Christos; Ghosh, Arunabha; Broomfield, Alexander; Woodall, Alison; Wilcox, Gisela; Sergouniotis, Panagiotis I.; Black, Graeme C. Share Save
A multilayered approach to the analysis of genetic data from individuals with suspected albinism Sergouniotis, Panagiotis I.; Michaud, Vincent; Lasseaux, Eulalie; Campbell, Christopher; Plaisant, Claudio; Javerzat, Sophie; Birney, Ewan; Ramsden, Simon C.; Black, Graeme C.; Arveiler, Benoit Share Save
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Re: Yahya et al.: Late-onset autosomal dominant macular degeneration caused by deletion of the CRX gene (Ophthalmology. 2023;130:68-76) Reply Inglehearn, Chris F.; Yahya, Samar; Smith, Claire E. L.; Poulter, James A.; Ali, Manir; Toomes, Carmel; Ellingford, Jamie; Black, Graeme C.; Arno, Gavin; Webster, Andrew R. Share Save
Phenome-wide Mendelian randomisation analysis identifies causal factors for age-related macular degeneration Julian, Thomas H.; Cooper-Knock, Johnathan; MacGregor, Stuart; Guo, Hui; Aslam, Tariq; Sanderson, Eleanor; Black, Graeme C. M.; Sergouniotis, Panagiotis, I; Smith, Lois E. H. Share Save
EyeG2P: an automated variant filtering approach improves efficiency of diagnostic genomic testing for inherited ophthalmic disorders Lenassi, Eva; Carvalho, Ana; Thormann, Anja; Abrahams, Liam; Arno, Gavin; Fletcher, Tracy; Hardcastle, Claire; Lopez, Javier; Hunt, Sarah E.; Short, Patrick; Sergouniotis, Panagiotis, I; Michaelides, Michel; Webster, Andrew; Cunningham, Fiona; Ramsden, Simon C.; Kasperaviciute, Dalia; Fitzpatrick, David R.; Black, Graeme C.; Ellingford, Jamie M. Share Save
Late-Onset Autosomal Dominant Macular Degeneration Caused by Deletion of the CRX Gene Yahya, Samar; Smith, Claire E. L.; Poulter, James A.; McKibbin, Martin; Arno, Gavin; Ellingford, Jamie; Kampjarvi, Kati; Khan, Muhammad, I; Cremers, Frans P. M.; Hardcastle, Alison J.; Castle, Bruce; Steel, David H. W.; Webster, Andrew R.; Black, Graeme C.; El-Asrag, Mohammed E.; Ali, Manir; Toomes, Carmel; Inglehearn, Chris F. Share Save
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Multidisciplinary team directed analysis of whole genome sequencing reveals pathogenic non-coding variants in molecularly undiagnosed inherited retinal dystrophies Varela, Malena Daich; Bellingham, James; Motta, Fabiana; Jurkute, Neringa; Ellingford, Jamie M.; Quinodoz, Mathieu; Oprych, Kathryn; Niblock, Michael; Janeschitz-Kriegl, Lucas; Kaminska, Karolina; Cancellieri, Francesca; Scholl, Hendrik P. N.; Lenassi, Eva; Schiff, Elena; Knight, Hannah; Black, Graeme; Rivolta, Carlo; Cheetham, Michael E.; Michaelides, Michel; Mahroo, Omar A.; Moore, Anthony T.; Webster, Andrew R.; Arno, Gavin Share Save
The contribution of common regulatory and protein-coding TYR variants to the genetic architecture of albinism Michaud, Vincent; Lasseaux, Eulalie; Green, David J.; Gerrard, Dave T.; Plaisant, Claudio; Fitzgerald, Tomas; Birney, Ewan; Arveiler, Benoit; Black, Graeme C.; Sergouniotis, Panagiotis, I Share Save
Clinical and genetic findings in TRPM1-related congenital stationary night blindness Iosifidis, Christos; Liu, Jingshu; Gale, Theodora; Ellingford, Jamie M.; Campbell, Christopher; Ingram, Stuart; Chandler, Kate; Parry, Neil R. A.; Black, Graeme C.; Sergouniotis, Panagiotis, I Share Save
Mast cell infiltration of the choroid and protease release are early events in age-related macular degeneration associated with genetic risk at both chromosomes 1q32 and 10q26 Mcharg, Selina; Booth, Laura; Perveen, Rahat; Garcia, Isabel Riba; Brace, Nicole; Bayatti, Nadhim; Sergouniotis, Panagiotis, I; Phillips, Alexander M.; Day, Anthony J.; Black, Graeme C. M.; Clark, Simon J.; Dowsey, Andrew W.; Unwin, Richard D.; Bishop, Paul N. Share Save
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