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Uncovering the genetic architecture of inherited retinal disease in a consanguineous Iranian cohort

npj Genomic Medicine
2025-03-07 | Journal article
DOI: 10.1038/s41525-025-00473-9
Contributors: Lieselot Vincke; Kristof Van Schil; Hamid Ahmadieh; Afrooz Moghaddasi; Hamideh Sabbaghi; Narsis Daftarian; Tahmineh Motevasseli; Leila Javanparast Sheykhani; Mohammadreza Dehghani; Mohammad Yahya Vahidi Mehrjardi et al.
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From diagnosis to treatment in genetic epilepsies: Implementation of precision medicine in real-world clinical practice

European Journal of Paediatric Neurology
2024-01 | Journal article
DOI: 10.1016/j.ejpn.2023.11.003
Contributors: Matthias De Wachter; An-Sofie Schoonjans; Sarah Weckhuysen; Kristof Van Schil; Ann Löfgren; Marije Meuwissen; Anna Jansen; Berten Ceulemans
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CEP162 deficiency causes human retinal degeneration and reveals a dual role in ciliogenesis and neurogenesis

Journal of Clinical Investigation
2023-04-17 | Journal article
DOI: 10.1172/JCI161156
Contributors: Nafisa Nuzhat; Kristof Van Schil; Sandra Liakopoulos; Miriam Bauwens; Alfredo Dueñas Rey; Stephan Käseberg; Melanie Jäger; Jason R. Willer; Jennifer Winter; Hanh M. Truong et al.
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CEP162 deficiency causes human retinal degeneration and reveals a dual role in ciliogenesis and neurogenesis

2021-11-23 | Preprint
DOI: 10.1101/2021.11.23.469779
Contributors: Nafisa Nuzhat; Kristof Van Schil; Sandra Liakopoulos; Miriam Bauwens; Alfredo Duenas Rey; Stephan Käseberg; Melanie Jäger; Jason R. Willer; Jennifer Winter; Hanh Truong et al.
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arrEYE: a customized platform for high-resolution copy number analysis of coding and noncoding regions of known and candidate retinal dystrophy genes and retinal noncoding RNAs

Genetics in Medicine
2017-04-08 | Journal article
DOI: 10.1038/gim.2016.119
Contributors: Caroline Van Cauwenbergh; Kristof Van Schil; Robrecht Cannoodt; Miriam Bauwens; Thalia Van Laethem; Sarah De Jaegere; Wouter Steyaert; Tom Sante; Björn Menten; Bart P. Leroy et al.
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Peer review (1 review for 1 publication/grant)

Review activity for Genes & diseases. (1)
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