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De novo and somatic structural variant discovery with SVision-pro2024 Nature Biotechnology article Biochemistry, Genetics and Molecular Biology Genomic variations and chromosomal abnormalities Open access cited by 1 patent
Songbo Wang, Jiadong Lin, Peng Jia, Tun Xu, Xiujuan Li, Y Liu, +4 more
30citations -
Leber's hereditary optic neuropathy like disease in MT-ATP6 variant m.8969G>A2024 American Journal of Ophthalmology Case Reports article Biochemistry, Genetics and Molecular Biology Mitochondrial Function and Pathology Open access
Cansu de Muijnck, Mary J. van Schooneveld, Astrid S. Plomp, Richard J. Rodenburg, Maria M. van Genderen, Camiel J. F. Boon
1citations -
Retinal Dystrophies Associated With Peripherin-2: Genetic Spectrum and Novel Clinical Observations in 241 Patients2024 Investigative Ophthalmology & Visual Science article Biochemistry, Genetics and Molecular Biology Retinal Development and Disorders Open access
Rachael C. Heath Jeffery, Jennifer A. Thompson, Johnny Lo, Enid S. Chelva, Sean Armstrong, Jose S. Pulido, +36 more
28citations -
Clinical, Genetic, and Histopathological Characteristics of CRX-associated Retinal Dystrophies2024 Ophthalmology Retina article Biochemistry, Genetics and Molecular Biology Retinal Development and Disorders Open access
Leo C. Hahn, Isa van der Veen, Michalis Georgiou, Mary J. van Schooneveld, Jacoline B. ten Brink, Ralph J. Florijn, +5 more
6citations -
Systematic study of ophthalmological findings in 10 patients with PEX1 -mediated Zellweger spectrum disorder2024 Ophthalmic Genetics article Biochemistry, Genetics and Molecular Biology Metabolism and Genetic Disorders Open access
Jessica S. Karuntu, Femke C. C. Klouwer, Marc Engelen, Camiel J. F. Boon
5citations -
Characteristics of autosomal dominant WFS1-associated optic neuropathy and its comparability to OPA1-associated autosomal dominant optic atrophy2024 Scientific Reports article Biochemistry, Genetics and Molecular Biology Retinal Development and Disorders Open access
Cansu de Muijnck, Lonneke Haer‐Wigman, Judith A.M. van Everdingen, Tanya Lushchyk, Pam A T Heutinck, Marieke F. van Dooren, +11 more
7citations -
The Pediatric and Young Adult Choroidal and Ciliary Body Melanoma Genetic Study, A Survey by the European Ophthalmic Oncology Group2024 Investigative Ophthalmology & Visual Science article Medicine Ocular Oncology and Treatments Open access
Natasha M. van Poppelen, Nathalie Cassoux, Joni A. Turunen, Nicole C. Naus, Robert M. Verdijk, Jolanda Vaarwater, +19 more
4citations -
Protein and mRNA Expression in Uveal Melanoma Cell Lines Are Related to GNA and BAP1 Mutation Status2024 Investigative Ophthalmology & Visual Science article Medicine Ocular Oncology and Treatments Open access
Maria Chiara Gelmi, Arnoud H. de Ru, Peter A. van Veelen, Rayman T.N. Tjokrodirijo, Marc‐Henri Stern, Alexandre Houy, +7 more
7citations -
Frequency and Genetic Spectrum of Inherited Retinal Dystrophies in a Large Dutch Pediatric Cohort: The RD5000 Consortium2024 Investigative Ophthalmology & Visual Science article Biochemistry, Genetics and Molecular Biology Retinal Development and Disorders Open access
Pam A T Heutinck, L. Ingeborgh van den Born, Maikel Vermeer, Adriana I. Iglesias Gonzales, Carel B. Hoyng, Jan Willem R. Pott, +13 more
9citations -
Convolutional Neural Networks and Their Activations: An Exploratory Case Study on Mounded Settlements2024 Journal of Computer Applications in Archaeology article Earth and Planetary Sciences Archaeological Research and Protection Open access
Șerban Vădineanu, Tuna Kalaycı, Daniël M. Pelt, Kees Joost Batenburg
3citations
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