Author

Pauls Auce

St George’s University Hospitals NHS Foundation Trust

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

Signature Assays, Organisms & Methods

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Organism:human· 2 Approach:statistical model· 2 Assay:whole-exome sequencing· 2 Research Focus:differential expression· 1 Approach:experimental assay· 1 Research Focus:gene regulatory network inference· 1 Research Focus:variant calling· 1 Research Focus:variant effect prediction· 1

Frequent Co-Authors

Alison AndersoniD· 2 shared Antonio GambardellaiD· 2 shared Chantal DepondtiD· 2 shared Danielle Molinari AndradeiD· 2 shared Gianpiero L. CavalleriiD· 2 shared Norman DelantyiD· 2 shared Orrin DevinskyiD· 2 shared Ahmad A. BeydouniD· 1 shared

Activity by Year

2024-2026 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 43 mutual co-author links

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2 shared papersGenetic & Genomic Medicine

Alison AndersonORCID

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2 papers

Recent·Most cited

Transcription factor binding and individual genetic risk for valproate teratogenicity

Alison Anderson, Piero Perucca, Elena Vianca, Daniel Sandvik, Ana Antonic‐Baker, Roland Krause, Dana Jazayeri, Alison Anne Hitchcock, Janet Elizabeth Graham, Marian Todaro, Torbjörn Tomson, Dina Battino, Emilio Perucca, Meritxell Martínez Ferri, Anne Maria Rochtus, , Sameer M. Zuberi

The paper investigates how genetic variants affecting transcription factor binding contribute to valproate-induced birth defects and identifies EP300 as a key regulator involved in this process.

Neurology · Jan 14, 2026Peer-reviewedGenetic & Genomic Medicine

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