Author

Lydia Pathmanathan

Royal Children's HospitalORCID 0000-0002-2524-5667Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Signature Assays, Organisms & Methods

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Research Focus:differential expression· 1 Assay:DNA methylation· 1 Approach:experimental assay· 1 Organism:human· 1 Research Focus:variant calling· 1 Research Focus:variant effect prediction· 1 Assay:whole-exome sequencing· 1

Frequent Co-Authors

Adam Gascoigne· 1 shared Amelia CliffordiD· 1 shared Anthony PeningtoniD· 1 shared Caitlin Tubb· 1 shared Colleen E. D’ArcyiD· 1 shared Denisse GarzaiD· 1 shared Duncan P MacGregoriD· 1 shared Ingrid Eileen SchefferiD· 1 shared

Activity by Year

2026-2026 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 45 mutual co-author links

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1 shared paperGenetic & Genomic Medicine

Adam Gascoigne

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1 paper

Recent·Most cited

Genetic & Genomic MedicinemedRxivPreprintAug 17, 2026

Droplet Digital PCR as a First-Line Detection Tool in the Genetic Diagnosis of Vascular Anomalies

Tara K Lane, Timothy E. Green, Denisse Garza…·Michael S. Hildebrand

The paper evaluates ddPCR as a primary diagnostic tool for vascular anomalies, finding it detects 51% of pathogenic variants in a cohort, with an overall diagnostic yield of 75% when combined with NGS.

DOI 10.64898/2026.08.11.26359368

humanDNA methylation

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