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

Authors: Lieselot Vincke, Kristof Van Schil, Hamid Ahmadieh, Afrooz Moghaddasi, Hamideh Sabbaghi, Narsis Daftarian, Tahmineh Motevasseli, Leila Javanparast Sheykhani, Mohammadreza Dehghani, Mohammad Yahya Vahidi Mehrjardi, Julie De Zaeytijd, Marieke De Bruyne, Quinten Mahieu, Ebrahim Al-Hajj, Marta Del Pozo-Valero, Toon Rosseel, Mattias Van Heetvelde, Reza Maroofian, Fatemeh Suri, Miriam Bauwens, Elfride De Baere

Source: npj Genomic Medicine, Vol 10, Iss 1, Pp 1-9 (2025)

Subject Terms: Medicine, Genetics, QH426-470

File Description: electronic resource

Relation: https://doaj.org/toc/2056-7944

Access URL: https://doaj.org/article/98158fd9dd224ff9bdc934c230f1a336

Combining a prioritization strategy and functional studies nominates 5’UTR variants underlying inherited retinal disease

Authors: Alfredo Dueñas Rey, Marta del Pozo Valero, Manon Bouckaert, Katherine A Wood, Filip Van den Broeck, Malena Daich Varela, Huw B Thomas, Mattias Van Heetvelde, Marieke De Bruyne, Stijn Van de Sompele, Miriam Bauwens, Hanne Lenaerts, Quinten Mahieu, Dragana Josifova, Genomics England Research Consortium, Carlo Rivolta, Raymond T O’Keefe, Jamie Ellingford, Andrew R Webster, Gavin Arno, Carmen Ayuso, Julie De Zaeytijd, Bart P Leroy, Elfride De Baere, Frauke Coppieters

Source: Genome Medicine, Vol 16, Iss 1, Pp 1-21 (2024)

Subject Terms: 5’untranslated region (5’UTR), Upstream open reading frame (uORF), Non-coding variation, Whole genome sequencing (WGS), Whole exome sequencing (WES), In silico prioritization, Medicine, Genetics, QH426-470

File Description: electronic resource

Relation: https://doaj.org/toc/1756-994X

Access URL: https://doaj.org/article/3ef1b0b6663c4cf89d5498ab57ec00ff

CEP162 deficiency causes human retinal degeneration and reveals a dual role in ciliogenesis and neurogenesis

Authors: Nafisa Nuzhat, Kristof Van Schil, Sandra Liakopoulos, Miriam Bauwens, Alfredo Dueñas Rey, Stephan Käseberg, Melanie Jäger, Jason R. Willer, Jennifer Winter, Hanh M. Truong, Nuria Gruartmoner, Mattias Van Heetvelde, Joachim Wolf, Robert Merget, Sabine Grasshoff-Derr, Jo Van Dorpe, Anne Hoorens, Heidi Stöhr, Luke Mansard, Anne-Françoise Roux, Thomas Langmann, Katharina Dannhausen, David Rosenkranz, Karl M. Wissing, Michel Van Lint, Heidi Rossmann, Friederike Häuser, Peter Nürnberg, Holger Thiele, Ulrich Zechner, Jillian N. Pearring, Elfride De Baere, Hanno J. Bolz

Source: The Journal of Clinical Investigation, Vol 133, Iss 8 (2023)

Subject Terms: Cell biology, Genetics, Medicine

File Description: electronic resource

Relation: https://doaj.org/toc/1558-8238

Access URL: https://doaj.org/article/5751fc3eb5124e36990ef17731c43da6

Long-Read Sequencing to Unravel Complex Structural Variants of CEP78 Leading to Cone-Rod Dystrophy and Hearing Loss

Authors: Giulia Ascari, Nanna D. Rendtorff, Marieke De Bruyne, Julie De Zaeytijd, Michel Van Lint, Miriam Bauwens, Mattias Van Heetvelde, Gavin Arno, Julie Jacob, David Creytens, Jo Van Dorpe, Thalia Van Laethem, Toon Rosseel, Tim De Pooter, Peter De Rijk, Wouter De Coster, Björn Menten, Alfredo Dueñas Rey, Mojca Strazisar, Mette Bertelsen, Lisbeth Tranebjaerg, Elfride De Baere

Source: Frontiers in Cell and Developmental Biology, Vol 9 (2021)

Subject Terms: CEP78, inherited retinal disease, cone-rod dystrophy with hearing loss, long-read sequencing, structural variants, single-cell gene expression analysis, Biology (General), QH301-705.5

File Description: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fcell.2021.664317/full; https://doaj.org/toc/2296-634X

Access URL: https://doaj.org/article/483ae383a34a48e1a6bbe9032362f8b3