Author

Alexandra MacDonald

ORCID 0000-0003-1013-4398Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Signature Assays, Organisms & Methods

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Research Focus:differential expression· 2 Organism:human· 2 Approach:statistical model· 2 Assay:whole-exome sequencing· 2 Research Focus:gene regulatory network inference· 1 Research Focus:GWAS / association mapping· 1 Research Focus:variant calling· 1

Frequent Co-Authors

Amos D. KorczyniD· 2 shared Andrea Byrnes· 2 shared Annika Rademacher· 2 shared Anthony Guy MarsoniD· 2 shared Brigid M. ReganiD· 2 shared Caitlin A. BennettiD· 2 shared Catharine Freyer· 2 shared Chantal DepondtiD· 2 shared

Activity by Year

2019-2021 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 45 mutual co-author links

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2 shared papersGenomics

Amos D. KorczynORCID

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2 papers

Recent·Most cited

Ultra-rare constrained missense variants in the epilepsies: Shared and specific enrichment patterns in neuronal gene-sets

Mahmoud Koko, Roland Krause, Thomas Sander, Dheeraj Reddy Bobbili, Michael Nothnagel, Patrick May, Holger Lerche, Yen‐Chen Anne Feng, Daniel P. Howrigan, Liam E. Abbott, Katherine C. Tashman, Felecia E. Cerrato, Tarjinder Singh, Henrike Heyne, Andrea Byrnes, , Christian Hengsbach

The paper analyzes ultra-rare variants in epilepsy patients to identify gene-set enrichment patterns and differential impacts in neuronal gene categories.

EBioMedicine · Sep 24, 2021Peer-reviewedGenomics

Ultra-rare genetic variation in the epilepsies: a whole-exome sequencing study of 17,606 individuals

Yen‐Chen Anne Feng, Daniel P. Howrigan, Liam E. Abbott, Katherine C. Tashman, Felecia E. Cerrato, Tarjinder Singh, Henrike Heyne, Andrea Byrnes, Claire L. Churchhouse, Nick Watts, Matthew Solomonson, Dennis Lal, Erin L. Heinzen, Ryan S. Dhindsa, Kate E. Stanley, , Ingo Borggräfe

This study identifies ultra-rare genetic variants associated with different epilepsy types using whole-exome sequencing in 17,634 individuals.

The American Journal of Human Genetics · Jul 18, 2019Peer-reviewedGenetics