Author

Talia J. Allan

The University of MelbourneORCID 0000-0002-0970-6750Unclaimed 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· 3 Approach:statistical model· 3 Research Focus:differential expression· 2 Assay:bulk RNA-seq· 1 Assay:DNA methylation· 1 Research Focus:variant calling· 1 Assay:whole-genome sequencing· 1

Frequent Co-Authors

Christy W. LaFlammeiD· 3 shared Soham SenguptaiD· 3 shared Amy SchneideriD· 2 shared Bekim SadikovićiD· 2 shared Edith P. Almanza FuerteiD· 2 shared Heather C. MeffordiD· 2 shared Ingrid Eileen SchefferiD· 2 shared Jennifer KerkhofiD· 2 shared

Activity by Year

2024-2026 · peak 2/yr

Co-Author Collaboration Network

10 top collaborators · 45 mutual co-author links

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3 shared papersGenetic & Genomic Medicine

Christy W. LaFlammeORCID

Mutual co-authors in cluster

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3 papers

Recent·Most cited

Genetic & Genomic MedicinemedRxivPreprintApr 28, 2026

Genome sequencing boosts diagnostic yield for the developmental and epileptic encephalopathies

Jacob E. Munro, Harshini Thiyagarajah, Mark F. Bennett…·Michael S. Hildebrand

Genome sequencing improves diagnostic yield for developmental and epileptic encephalopathies by identifying structural and non-coding variants missed by exome or gene panel testing.

1 citation

humanwhole-genome 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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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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