Author

Irma López

McGill University

Listed by name: these papers carry no ORCID for this author, so different people with the same name may be mixed together.

Biology Disciplines

Click to filter author papers

Genetics· 2 Genetic & Genomic Medicine· 1

Signature Assays, Organisms & Methods

Click to filter · or open tag

Organism:human· 3 Approach:statistical model· 2 Assay:bulk RNA-seq· 1 Research Focus:database / resource· 1 Research Focus:differential expression· 1 Approach:experimental assay· 1 Research Focus:gene regulatory network inference· 1 Assay:scRNA-seq· 1

Frequent Co-Authors

Robert Karel KoenekoopiD· 3 shared Béatrice BocquetiD· 2 shared Carmen AyusoiD· 2 shared Chris F. InglehearniD· 2 shared Francesca CancellieriiD· 2 shared Karolina KamińskaiD· 2 shared Lara K. HoltesiD· 2 shared Lidia Fernández‐CaballeroiD· 2 shared

Activity by Year

2023-2025 · peak 2/yr

Co-Author Collaboration Network

10 top collaborators · 45 mutual co-author links

Click any collaborator node to inspect or filter shared papers

Focal author (center)Selected co-authorORCID co-authorUnlinked name

Curved chords = mutual co-authorship

3 shared papersGenetics

Robert Karel KoenekoopORCID

Mutual co-authors in cluster

Author profile →

3 papers

Recent·Most cited

RetiGene, a comprehensive gene atlas for inherited retinal diseases (IRDs)

Mathieu Quinodoz, Elifnaz Çelik, Dhryata Kamdar, Francesca Cancellieri, Karolina Kamińska, Mukhtar Ullah, Pilar Barberán-Martínez, Manon Bouckaert, Marta Cortón, Emma Delanote, Lidia Fernández‐Caballero, Gema García‐García, Lara K. Holtes, Marianthi Karali, Irma López, , Carlo Rivolta

RetiGene provides a curated gene atlas for inherited retinal diseases, integrating variant data and RNA sequencing to support gene prioritization and therapeutic development.

bioRxiv · Jun 8, 2025 · PreprintGenetics

De novo and inherited dominant variants in U4 and U6 snRNAs cause retinitis pigmentosa

Mathieu Quinodoz, Kim Rodenburg, Zuzana Cvačková, Karolina Kamińska, Suzanne E. de Bruijn, Ana Belén Iglesias-Romero, Erica G. M. Boonen, Mukhtar Ullah, Nick Zomer, Marc Folcher, Jacques Bijon, Lara K. Holtes, Stephen H. Tsang, Zelia Corradi, K. Bailey Freund, , Gaël Manès

The paper identifies de novo and inherited variants in U4 and U6 snRNAs causing retinitis pigmentosa and shows their impact on snRNP biogenesis.

medRxiv · Jan 6, 2025 · PreprintGenetic & Genomic Medicine

Systematic assessment of the contribution of structural variants to inherited retinal diseases

Shu Wen, Meng Wang, Xinye Qian, Yumei Li, Keqing Wang, Jongsu Choi, Mark Edward Pennesi, Paul G Yang, Molly H. Marra, Robert Karel Koenekoop, Irma López, Anna Matynia, Michael B. Gorin, Ruifang Sui, Fengxia Yao, , Rui Chen

This study identifies 16 pathogenic structural variants in 16 IRD families using whole-genome sequencing, finding SVs contribute 2.1% to unresolved IRD cases but less than SNVs and indels.

Human Molecular Genetics · Feb 22, 2023Peer-reviewedGenetics