Author

Deepak Gill

The University of SydneyORCID 0000-0002-6219-9479Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Signature Assays, Organisms & Methods

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Organism:human· 2 Approach:statistical model· 2 Assay:bulk RNA-seq· 1 Research Focus:differential expression· 1 Research Focus:variant calling· 1 Assay:whole-exome sequencing· 1

Frequent Co-Authors

Mark F. BennettiD· 2 shared A.C. Cullier· 1 shared Adélaïde Brosseau-Beauvir· 1 shared Agnès Guichet· 1 shared Alice GoldenbergiD· 1 shared Amandine SantiniiD· 1 shared Ange‐Line BrueliD· 1 shared Anne de Saint MartiniD· 1 shared

Activity by Year

2026-2026 · peak 2/yr

Co-Author Collaboration Network

10 top collaborators · 45 mutual co-author links

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2 shared papersGenetic & Genomic Medicine

Mark F. BennettORCID

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2 papers

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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Genetic & Genomic MedicineNature GeneticsPeer-reviewedMar 30, 2026

Systematic analysis of snRNA genes reveals frequent RNU2-2 variants in dominant and recessive developmental and epileptic encephalopathies

Elsa Leitão, Amandine Santini, Benjamin Cogné…·Johanna Herwig

The paper identifies RNU2-2 variants as a frequent cause of neurodevelopmental disorders, both dominant and recessive, in a large cohort of individuals with rare disorders.

8 citationstop 1%

humanbulk RNA-seq

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