Author

Anna Kuchina

Research Centre for Medical GeneticsORCID 0000-0002-3153-7041Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Genetic & Genomic Medicine· 2

Signature Assays, Organisms & Methods

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Organism:human· 2 Approach:statistical model· 2 Research Focus:database / resource· 1 Research Focus:differential expression· 1 Assay:whole-exome sequencing· 1

Frequent Co-Authors

Aysylu F. MurtazinaiD· 2 shared Adele D’AmicoiD· 1 shared Aishwarya Dhall· 1 shared Alan H. BeggsiD· 1 shared Alessandro MussaiD· 1 shared Angelina MeybatovaiD· 1 shared Anna SárközyiD· 1 shared Artem O. BorovikoviD· 1 shared

Activity by Year

2026-2026 · peak 2/yr

Co-Author Collaboration Network

10 top collaborators · 37 mutual co-author links

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2 shared papersGenetic & Genomic Medicine

Aysylu F. MurtazinaORCID

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Author profile →

2 papers

Recent·Most cited

The Russian FSHD registry: a first look at the cohort

Anna Kuchina, Darya Sherstyukova, Artem O. Borovikov, Margarita А. Soloshenko, Nikolay V. Zernov, Dmitrii Subbotin, Дадали Елена Леонидовна, Шаркова Инна Валентиновна, Galina E. Rudenskaya, Sergey Ivanovich Kutsev, Mikhail Y. Skoblov, Aysylu F. Murtazina

The paper describes the Russian FSHD registry, analyzing clinical and genetic data to identify disease trajectories and demographic patterns in a national cohort.

Human Genetics · Aug 8, 2026Peer-reviewedGenetic & Genomic Medicine

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