Author

Amy Schneider

The University of MelbourneORCID 0000-0001-5260-7187Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Genetic & Genomic Medicine· 2 Genetics· 1

Signature Assays, Organisms & Methods

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Organism:human· 3 Approach:statistical model· 3 Research Focus:variant calling· 2 Research Focus:differential expression· 1 Assay:DNA methylation· 1 Assay:whole-exome sequencing· 1 Assay:whole-genome sequencing· 1

Frequent Co-Authors

Heather C. MeffordiD· 3 shared Ingrid Eileen SchefferiD· 3 shared Samuel Frank BerkoviciD· 3 shared Bekim SadikovićiD· 2 shared Christy W. LaFlammeiD· 2 shared Gemma L. CarvilliD· 2 shared Jennifer KerkhofiD· 2 shared Nico LiefferingiD· 2 shared

Activity by Year

2021-2026 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 45 mutual co-author links

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3 shared papersGenetic & Genomic Medicine

Heather C. MeffordORCID

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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 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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GeneticsAnnals of NeurologyPeer-reviewedJun 29, 2021

Pathogenic MAST3 variants in the STK domain are associated with epilepsy

Egidio Spinelli, Kyle R. Christensen, Emily M. Bryant…·Gemma L. Carvill

The paper identifies de novo MAST3 variants in individuals with epilepsy, showing they may confer gain-of-function and are restricted to excitatory neurons in the cortex.

19 citations

humanwhole-exome sequencing

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