Author

Sachin Gupta

Children's Hospital at WestmeadORCID 0000-0001-9459-5233Unclaimed ORCID profile · follow to get notified of new preprints

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 Research Focus:differential expression· 1 Assay:DNA methylation· 1 Research Focus:variant calling· 1 Assay:whole-exome sequencing· 1

Frequent Co-Authors

Ingrid Eileen SchefferiD· 2 shared Samuel Frank BerkoviciD· 2 shared Amy SchneideriD· 1 shared Anthony Simon HarveyiD· 1 shared Bekim SadikovićiD· 1 shared Breana Galea· 1 shared Brialie Forster· 1 shared Caitlin A. BennettiD· 1 shared

Activity by Year

2024-2026 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 29 mutual co-author links

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2 shared papersGenetic & Genomic Medicine

Ingrid Eileen SchefferORCID

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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 CommunicationsPeer-reviewedAug 6, 2024

Diagnostic Utility of Genome-wide DNA Methylation Analysis in Genetically Unsolved Developmental and Epileptic Encephalopathies and Refinement of a CHD2 Episignature

Christy W. LaFlamme, Cassandra Rastin, Soham Sengupta…·Heather C. Mefford

This study evaluates genome-wide DNA methylation analysis in genetically unsolved DEEs, identifying 10 causative or candidate genetic causes and refining a CHD2 episignature.

31 citationstop 1%

humanDNA methylation

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