Author

Aishwarya Dhall

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· 1

Signature Assays, Organisms & Methods

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Research Focus:differential expression· 1 Organism:human· 1 Approach:statistical model· 1 Assay:whole-exome sequencing· 1

Frequent Co-Authors

Adele D’AmicoiD· 1 shared Alan H. BeggsiD· 1 shared Alessandro MussaiD· 1 shared Angelina MeybatovaiD· 1 shared Anna KuchinaiD· 1 shared Anna SárközyiD· 1 shared Athanasios EvangeliouiD· 1 shared Ay Lin KhoiD· 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

Adele D’AmicoORCID

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Author profile →

1 paper

Recent·Most cited

A comprehensive framework for the interpretation of TTN missense variants

Maria Francesca Di Feo, Martin Rees, Victoria Lillback, Ay Lin Kho, Angelina Meybatova, Mark Holt, Heinz Jungbluth, Francesco Muntoni A, Giovanni Baranello, Anna Sárközy, Chiara Fiorillo, Serena Baratto, Claudio Bruno, Monica Traverso, Michele Iacomino, , Marco Savarese

The paper presents a framework for interpreting TTN missense variants by integrating clinical, computational, and functional evidence, identifying two variants as likely pathogenic.

Genome Medicine · Feb 26, 2026Peer-reviewedGenetic & Genomic Medicine