Author

Saul Alator Mullen

The University of MelbourneORCID 0000-0003-1224-4101Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Genetic & Genomic Medicine· 1 Genetics· 1 Neuroscience· 1

Signature Assays, Organisms & Methods

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Organism:human· 3 Research Focus:cell type annotation· 2 Approach:experimental assay· 2 Assay:scRNA-seq· 2 Approach:statistical model· 2 Research Focus:database / resource· 1 Research Focus:differential expression· 1 Research Focus:gene regulatory network inference· 1

Frequent Co-Authors

Ingrid Eileen SchefferiD· 2 shared Michael S. HildebrandiD· 2 shared Rosita B. Ramirez· 2 shared Sattar KhoshkhooiD· 2 shared Timothy E. GreeniD· 2 shared Alex Nemiroff· 1 shared Alissa M. D’GamaiD· 1 shared Annapurna PoduriiD· 1 shared

Activity by Year

2023-2026 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 33 mutual co-author links

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2 shared papersGenetic & Genomic Medicine

Ingrid Eileen SchefferORCID

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3 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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GeneticsProceedings of the National Academy of SciencesPeer-reviewedJul 17, 2025

Cell-type-informed genotyping of mosaic focal epilepsies reveals cell-autonomous and non-cell-autonomous disease-associated transcriptional programs

Sara Bizzotto, Maya Talukdar, Edward Stronge…·Christopher A. Walsh

This study uses snRNA-seq and a new method called GO-TEN to analyze mosaic genetic variants in focal cortical dysplasia, revealing cell-autonomous and non-cell-autonomous transcriptional changes associated with epilepsy.

21 citationstop 1%

humanscRNA-seq

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NeurosciencebioRxivPreprintFeb 14, 2023

Distinctive in vitro phenotypes in iPSC-derived neurons from patients with gain- and loss-of-function SCN2A developmental and epileptic encephalopathy

Miaomiao Mao, Cristiana Mattei, Ben Rollo…·Steven Petrou

This study compares iPSC-derived neurons from patients with gain- and loss-of-function SCN2A variants, finding distinct electrophysiological and transcriptomic changes associated with different disease presentations.

4 citations

humanscRNA-seq

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