Author

Anand Vasudevan

Royal Women's HospitalORCID 0000-0002-9520-8845Unclaimed 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· 2 Approach:experimental assay· 1 Research Focus:gene regulatory network inference· 1 Assay:proteomics· 1 Approach:statistical model· 1 Research Focus:variant effect prediction· 1

Frequent Co-Authors

Achille Lolascon· 1 shared Alexander P.A. StegmanniD· 1 shared Alison G. ComptoniD· 1 shared Amanda Samarasinghe· 1 shared Anaïs BegemanniD· 1 shared Andrée Delahaye‐DurieziD· 1 shared Andrew GreeniD· 1 shared Ángel Guerra-MorenoiD· 1 shared

Activity by Year

2024-2025 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 29 mutual co-author links

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1 shared paperGenetic & Genomic Medicine

Achille Lolascon

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2 papers

Recent·Most cited

Genetic & Genomic MedicinemedRxivPreprintAug 5, 2025

Genotype-Phenotype Correlation in RBM10-Associated Syndromes. How Variant Function Shapes a Broad Phenotypic Landscape

Jeanne Mari V. Bang, Christina Ringmann Fagerberg, Thomas Koed Doktor…·Brage Storstein Andresen

The paper reports 37 new cases of RBM10 variants, identifies two phenotypic groups, and establishes a genotype-phenotype correlation based on functional studies.

DOI 10.1101/2025.08.05.25330579

humanstatistical model

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Genetic & Genomic MedicinemedRxivPreprintAug 6, 2024

Untargeted proteomics enables ultra-rapid variant prioritization in mitochondrial and other rare diseases

Daniella Helena Hock, Nikeisha J. Caruana, Liana N. Semcesen…·David A. Stroud

This study uses untargeted proteomics to rapidly prioritize genetic variants in mitochondrial and other rare diseases, achieving functional evidence for 83% of cases in a cohort.

4 citations

humanproteomics

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