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Publications and more

Please follow along with some samples of my work - both in group and individual settings.

I look forward to working on more projects and keeping you updated!

Publications

[7] Saparov, A. et al. Fibroblast Transcriptomics in Molecular Diagnostics of a Comprehensive Dystonia Cohort. Annals of Neurology, (2026). 


[6] Jacob, M. et al. Deciphering DST-associated disorders: biallelic variants affecting DST-b cause a congenital myopathy. Brain 149, 653–667 (2026).


[5] Sorrentino, U. et al. Integrating Long-Read Nanopore Sequencing for Precision Resolution of Genomic Variants in Dystonia. Movement Disorders 41, 70–83 (2026).


[4] Saparov, A. & Zech, M. Big data and transformative bioinformatics in genomic diagnostics and beyond. Parkinsonism & Related Disorders 134, (2025).


[3] Zech, M. et al. Combined genomics and proteomics unveils elusive variants and vast aetiologic heterogeneity in dystonia. Brain 148, 2827–2846 (2025).


[2] Harrer, P. et al. Expanding the Allelic and Clinical Heterogeneity of Movement Disorders Linked to Defects of Mitochondrial Adenosine Triphosphate Synthase. Movement Disorders 40, 1388–1400 (2025).


[1] W. Li, X. Li, E. Lavallee, A. Saparov, M. Zitnik, C. Cassa. From Text to Translation: Using Language Models to Prioritize Variants for Clinical Review. 2024.12.31.24319792 Preprint at https://doi.org/10.1101/2024.12.31.24319792 (2025).

Talks
 
Transcriptomics analysis achieves new solved cases in rare undiagnosed dystonia

⋄ German Society of Human Genetics Conference, Munich, 2026
⋄ Symposium on Pediatric Movement Disorders, Barcelona, 2026
⋄ ESHG, Milan, 2026

 

Submitted Abstracts

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DeepRVAT computed gene-level burden scores enables gene discovery and diagnosis-oriented prioritization in a large dystonia WES cohort 
⋄ ESHG, Gothenburg (submitted), 2026


Transcriptomics analysis achieves new solved cases in rare undiagnosed dystonia
⋄ German Society of Human Genetics Conference, Munich (talk), 2026
⋄ ASHG, Boston (poster), 2025
⋄ ESHG, Milan (talk), 2025
 

© 2026 by Alice Saparov

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