Author

Emma Macdonald‐Laurs

Royal Children's HospitalORCID 0000-0002-9894-4610Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Genetic & Genomic Medicine· 1

Signature Assays, Organisms & Methods

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Organism:human· 1 Approach:statistical model· 1 Research Focus:variant calling· 1 Assay:whole-exome sequencing· 1

Frequent Co-Authors

Anthony Simon HarveyiD· 1 shared Breana Galea· 1 shared Brialie Forster· 1 shared Caitlin A. BennettiD· 1 shared Colleen E. D’ArcyiD· 1 shared Deepak S. GilliD· 1 shared Gabi Bradshaw· 1 shared Greta Gillies· 1 shared

Activity by Year

2026-2026 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 45 mutual co-author links

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1 shared paperGenetic & Genomic Medicine

Anthony Simon HarveyORCID

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1 paper

Recent·Most cited

Genetic & Genomic MedicineProgress in Neuro-Psychopharmacology and Biological PsychiatryPeer-reviewedAug 1, 2026

Deep tissue sequencing improves genetic diagnostic yield in focal cortical dysplasia

Breana Galea, Joshua Reid, Samuel Gooley…·Michael S. Hildebrand

This study uses deep sequencing to identify genetic variants in focal cortical dysplasias, finding pathogenic variants in 71% of cases and highlighting the importance of somatic variants in FCDIIb.

DOI 10.1016/j.pnpbp.2026.111920

humanwhole-exome sequencing

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