Author

Neesha Krishnan

Garvan Institute of Medical Research

Listed by name: these papers carry no ORCID for this author, so different people with the same name may be mixed together.

Biology Disciplines

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Genetic & Genomic Medicine· 3

Signature Assays, Organisms & Methods

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Research Focus:variant effect prediction· 3 Organism:human· 2 Approach:statistical model· 2 Research Focus:benchmarking· 1 Research Focus:database / resource· 1 Assay:GWAS summary statistics· 1 Assay:whole-exome sequencing· 1 Assay:whole-genome sequencing· 1

Frequent Co-Authors

Jodie InglesiD· 3 shared Ebony RichardsoniD· 2 shared James S. WareiD· 2 shared Adam S. HelmsiD· 1 shared Alessia Argiro· 1 shared Alexandra ButtersiD· 1 shared Alexandre C Pereira· 1 shared Amy BakeriD· 1 shared

Activity by Year

2022-2026 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 33 mutual co-author links

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3 shared papersGenetic & Genomic Medicine

Jodie InglesORCID

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Author profile →

3 papers

Recent·Most cited

Reclassification of Genetic Variants in Patients with Hypertrophic Cardiomyopathy from the Sarcomeric Human Cardiomyopathy Registry (SHaRe)

Sophie Hespe, G. Powell, Laura Catto, Natalie Stewart, Amy Baker, Neesha Krishnan, Lucas A Mitchell, Natasha Henden, Ebony Richardson, Alexandra Butters, Pantazis Theotokis, Rachel Buchan, Kathryn A. McGurk, Brian Lee Claggett, Dominic James Abrams, , Jodie Ingles

The paper reclassifies genetic variants in HCM patients using a large registry, finding 10% of variants were reclassified, with most VUS unlikely to be causal.

Heart Lung and Circulation · Jul 30, 2026Peer-reviewedGenetic & Genomic Medicine

Beyond gene-disease validity: capturing structured data on inheritance, allelic-requirement, disease-relevant variant classes, and disease mechanism for inherited cardiac conditions

Katherine S. Josephs, Angharad M. Roberts, Pantazis I. Theotokis, Roddy Walsh, Philip J. Ostrowski, Matthew Edwards, Andrew Fleming, Courtney Thaxton, Jason D. Roberts, Melanie E. Care, Wojciech Zaręba, Arnon Adler, Amy Curry Sturm, Rafik Tadros, Valeria Novelli, , James S. Ware

The paper structures evidence on inheritance, allelic requirement, and variant classes for inherited cardiac conditions to improve variant filtering in genomic testing.

Genome Medicine · Oct 23, 2023Peer-reviewedGenetic & Genomic Medicine

Recommendations for clinical interpretation of variants found in non-coding regions of the genome

Jamie M. Ellingford, Joo Wook Ahn, Richard D. Bagnall, Diana Baralle, Stephanie Barton, Chris Campbell, Kate Downes, Sian Ellard, Celia R. A. Duff‐Farrier, David R FitzPatrick, John M. Greally, Jodie Ingles, Neesha Krishnan, Jenny Lord, Hilary C. Martin, , Nicola Whiffin

This paper provides recommendations for interpreting non-coding variants in clinical settings, adapting existing guidelines to account for their role in disease.

Genome Medicine · Jul 18, 2022Peer-reviewedGenetic & Genomic Medicine