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Davidson, Alice E, Liskova, Petra, Evans, Cerys J, Dudakova, Lubica, Noskova, Lenka, Pontikos, Nikolas, Hartmannova, Hana, Hodanova, Katerina, Stranecky, Viktor, Kozmik, Zbynek et al (show 16 more authors) , Levis, Hannah J ORCID: 0000-0002-3923-1178, Idigo, Nwamaka, Sasai, Noriaki, Maher, Geoffrey J, Bellingham, James, Veli, Neyme, Ebenezer, Neil D, Cheetham, Michael E, Daniels, Julie T, Thaung, Caroline MH, Jirsova, Katerina, Plagnol, Vincent, Filipec, Martin, Kmoch, Stanislav, Tuft, Stephen J and Hardcastle, Alison J (2016) Autosomal-Dominant Corneal Endothelial Dystrophies CHED1 and PPCD1 Are Allelic Disorders Caused by Non-coding Mutations in the Promoter of OVOL2. AMERICAN JOURNAL OF HUMAN GENETICS, 98 (1). pp. 75-89.

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Jurkute, Neringa, Cancellieri, Francesca, Pohl, Lisa, Li, Catherina HZ, Heaton, Robert A, Reurink, Janine, Bellingham, James, Quinodoz, Mathieu, Yioti, Georgia, Stefaniotou, Maria et al (show 14 more authors) , Weener, Marianna, Zuleger, Theresia, Haack, Tobias B, Stingl, Katarina, Hoyng, Carel B, Mahroo, Omar A, Hargreaves, Iain, Raymond, F Lucy, Michaelides, Michel, Rivolta, Carlo, Kohl, Susanne, Roosing, Susanne, Webster, Andrew R and Arno, Gavin (2022) Biallelic variants in coenzyme Q10 biosynthesis pathway genes cause a retinitis pigmentosa phenotype. NPJ GENOMIC MEDICINE, 7 (1). 60-.