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Quinodoz, Mathieu; Kaminska, Karolina; Cancellieri, Francesca; Han, Ji Hoon; Peter, Virginie G; Celik, Elifnaz; Janeschitz-Kriegl, Lucas; Schärer, Nils; Hauenstein, Daniela; György, Bence; Calzetti, Giacomo; Hahaut, Vincent; Custódio, Sónia; Sousa, Ana Cristina; Wada, Yuko; Murakami, Yusuke; Fernández, Almudena Avila; Hernández, Cristina Rodilla; Minguez, Pablo; Ayuso, Carmen; ... (2024). Detection of elusive DNA copy-number variations in hereditary disease and cancer through the use of noncoding and off-target sequencing reads. American journal of human genetics, 111(4), pp. 701-713. Cell Press 10.1016/j.ajhg.2024.03.001
Vaclavik, Veronika; Naderi, Francine; Schaller, André; Escher, Pascal (2020). Longitudinal case study and phenotypic multimodal characterization of McArdle disease-linked retinopathy: insight into pathomechanisms. Ophthalmic genetics, 41(1), pp. 73-78. Taylor & Francis 10.1080/13816810.2020.1727536
Zandi, Souska; Freiberg, Florentina; Vaclavik, Veronika; Pfister, Isabel B.; Traine, Peter G.; Kaya, Cagdas; Michels, Stephan; Garweg, Justus G. (2020). Morphological Reconstitution and Persistent Changes After Intravitreal Ocriplasmin for Vitreomacular Traction and Macular Hole. Journal of ocular pharmacology and therapeutics, 36(2), pp. 126-132. Mary Ann Liebert 10.1089/jop.2019.0051
Escher, Pascal; Passarin, Olga; Munier, Francis L; Tran, Viet H; Vaclavik, Veronika (2018). Variability in clinical phenotypes of PRPF8-linked autosomal dominant retinitis pigmentosa correlates with differential PRPF8/SNRNP200 interactions. Ophthalmic genetics, 39(1), pp. 80-86. Taylor & Francis 10.1080/13816810.2017.1393825
Escher, Pascal; Vaclavik, Veronika; Munier, Francis L; Tran, H Viet (2016). Presence of a Triple Concentric Autofluorescence Ring in NR2E3-p.G56R-Linked Autosomal Dominant Retinitis Pigmentosa (ADRP). Investigative ophthalmology & visual science, 57(4), pp. 2001-2002. Association for Research in Vision and Ophthalmology 10.1167/iovs.16-19459
Escher, Pascal; Tran, Hoai V; Vaclavik, Veronika; Borruat, Francois X; Schorderet, Daniel F; Munier, Francis L (2012). Double concentric autofluorescence ring in NR2E3-p.G56R-linked autosomal dominant retinitis pigmentosa. Investigative ophthalmology & visual science, 53(8), pp. 4754-4764. Association for Research in Vision and Ophthalmology 10.1167/iovs.11-8693
