Author

Sophie Hespe

Garvan Institute of Medical ResearchORCID 0009-0006-9313-4172Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

Click to filter author papers

Genetic & Genomic Medicine· 2 Cell Biology· 1

Signature Assays, Organisms & Methods

Click to filter · or open tag

Organism:human· 3 Approach:statistical model· 2 Research Focus:variant effect prediction· 2 Research Focus:cell-cell communication· 1 Approach:experimental assay· 1 Research Focus:gene regulatory network inference· 1 Research Focus:GWAS / association mapping· 1 Assay:GWAS summary statistics· 1

Frequent Co-Authors

Jodie InglesiD· 3 shared Adam S. HelmsiD· 2 shared ANJALI TIKU OWENSiD· 2 shared James S. WareiD· 2 shared Sharlene M. DayiD· 2 shared Victoria Nicole ParikhiD· 2 shared Alessia Argiro· 1 shared Alexandra ButtersiD· 1 shared

Activity by Year

2025-2026 · peak 2/yr

Co-Author Collaboration Network

10 top collaborators · 40 mutual co-author links

Click any collaborator node to inspect or filter shared papers

Focal author (center)Selected co-authorORCID co-authorUnlinked name

Curved chords = mutual co-authorship

3 shared papersGenetic & Genomic Medicine

Jodie InglesORCID

Mutual co-authors in cluster

Author profile →

3 papers

Recent·Most cited

Genetic & Genomic MedicineHeart Lung and CirculationPeer-reviewedJul 30, 2026

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

Sophie Hespe, G. Powell, Laura Catto…·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.

DOI 10.1016/j.hlc.2026.07.007

humanGWAS summary statistics

𝕏 PostBluesky

Cell BiologybioRxivPreprintJul 21, 2026

Pathogenic MYBPC3 missense variants alter protein-protein interactions within the sarcomere

Andrea D. Thompson, Chelsea Pankiewicz, Lucy Plenge…·Sharlene M. Day

This study identifies pathogenic MYBPC3 missense variants in HCM patients and shows they disrupt protein interactions and alter proximity to thin-filament proteins.

DOI 10.64898/2026.05.27.727676

humanproteomics

𝕏 PostBluesky

Genetic & Genomic MedicineCirculation Genomic and Precision MedicinePeer-reviewedApr 21, 2025

Clinical Validity of Autosomal Dominant ALPK3 Loss-of-function Variants as a Cause of Hypertrophic Cardiomyopathy

Sophie Hespe, Emma S. Singer, Chloe M. Reuter…·Jodie Ingles

The paper evaluates the clinical validity of heterozygous ALPK3 loss-of-function variants as a cause of hypertrophic cardiomyopathy, finding strong gene-disease association with reduced penetrance.

3 citations

humanstatistical model

𝕏 PostBluesky