Author

Epi25 Collaborative

University of Southern Denmark

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

Biology Disciplines

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Genetic & Genomic Medicine· 2 Genetics· 2

Signature Assays, Organisms & Methods

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Organism:human· 4 Research Focus:variant effect prediction· 4 Approach:statistical model· 3 Assay:whole-exome sequencing· 2 Assay:DNA methylation· 1 Approach:machine learning (classical)· 1 Research Focus:variant calling· 1 Assay:whole-genome sequencing· 1

Frequent Co-Authors

Dennis LaliD· 3 shared Mark J. DalyiD· 3 shared Eduardo Pérez‐PalmaiD· 2 shared Henrike HeyneiD· 2 shared Johannes R. LemkeiD· 2 shared Aarno V. PalotieiD· 1 shared Ahmad A. BeydouniD· 1 shared Akhil VelluvaiD· 1 shared

Activity by Year

2019-2024 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 22 mutual co-author links

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3 shared papersGenetics

Dennis LalORCID

Mutual co-authors in cluster

Author profile →

4 papers

Recent·Most cited

Exome sequencing of 20,979 individuals with epilepsy reveals shared and distinct ultra-rare genetic risk across disorder subtypes

Epi25 Collaborative, Siwei Chen, Bassel W Abou-Khalil, Zaid Afawi, Quratulain Zulfiqar Ali, Elisabetta Amadori, Alison Anderson, Joe Anderson, Danielle Molinari Andrade, Grazia Annesi, Mutluay Arslan, Pauls Auce, Melanie Bahlo, Mark D. Baker, Ganna Balagura, , Alica M. Goldman

This study identifies shared and distinct ultra-rare genetic risk factors for epilepsy subtypes using whole-exome sequencing of 20,979 patients and 33,444 controls.

Nature Neuroscience · Oct 1, 2024Peer-reviewedGenetic & Genomic Medicine

The role of rare genetic variants enrichment in epilepsies of presumed genetic etiology

Linnaeus Bundalian, Yin-Yuan Su, Siwei Chen, Akhil Velluva, Anna Sophia Kirstein, Antje Garten, Saskia Biskup, Florian Battke, Dennis Lal, Henrike Heyne, Konrad Platzer, Chen-Ching Lin, Johannes R. Lemke, Diana Le Duc, Epi25 Collaborative

The paper identifies rare genetic variants associated with different epilepsy types, finding the most enrichment in non-acquired focal epilepsy.

medRxiv · Jan 17, 2023 · PreprintGenetic & Genomic Medicine

Predicting Functional Effects of Missense Variants in Voltage-Gated Sodium and Calcium Channels

Henrike Heyne, David Báez-Nieto, Sumaiya Iqbal, Duncan S. Palmer, Andreas Brunklaus, Patrick May, Epi25 Collaborative, Katrine M. Johannesen, Stephan Lauxmann, Johannes R. Lemke, Rikke Steensbjerre Møller, Eduardo Pérez‐Palma, Ute I. Scholl, Steffen Syrbe, Holger Lerche, , Mark J. Daly

The paper predicts functional effects of missense variants in voltage-gated sodium and calcium channels using machine learning, achieving high accuracy in distinguishing gain and loss of function variants.

Science Translational Medicine · Aug 12, 2020Peer-reviewedGenetics

Evaluation of copy number burden in specific epilepsy types from a genome-wide study of 18,564 subjects

Lisa‐Marie Niestroj, Daniel P. Howrigan, Eduardo Pérez‐Palma, Elmo Saarentaus, Peter Nürnberg, Remi Stevelink, Mark J. Daly, Aarno V. Palotie, Dennis Lal, Epi25 Collaborative

The paper evaluates copy number burden in specific epilepsy types using a genome-wide study of 18,564 subjects, identifying novel CNV loci and showing deletion burden outside known hotspots in lesional focal epilepsies.

bioRxiv · May 27, 2019 · PreprintGenetics