Publications by authors named "Alice Saparov"

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Integrating Long-Read Nanopore Sequencing for Precision Resolution of Genomic Variants in Dystonia.
Ugo Sorrentino, Martin Pavlov, Nazanin Mirza-Schreiber, Melanie Brugger, Theresa Brunet, Alice Saparov

Mov Disord· September 2025

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Combined genomics and proteomics unveils elusive variants and vast aetiologic heterogeneity in dystonia.
Michael Zech, Ivana Dzinovic, Matej Skorvanek, Philip Harrer, Jan Necpal, Alice Saparov

Brain· August 2025

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Expanding the Allelic and Clinical Heterogeneity of Movement Disorders Linked to Defects of Mitochondrial Adenosine Triphosphate Synthase.
Philip Harrer, Magdalena Krygier, Martin Krenn, Volker Kittke, Martin Danis, Alice Saparov

Mov Disord· July 2025

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Deciphering DST-associated disorders: biallelic variants affecting DST-b cause a congenital myopathy.
Maureen Jacob, Heike Kölbel, Philip Harrer, Robert Kopajtich, Pinki Munot, Alice Saparov

Brain· June 2025

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Big data and transformative bioinformatics in genomic diagnostics and beyond.
Alice Saparov, Michael Zech

Parkinsonism Relat Disord· May 2025

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From Text to Translation: Using Language Models to Prioritize Variants for Clinical Review.
Weijiang Li, Xiaomin Li, Ethan Lavallee, Alice Saparov, Marinka Zitnik

medRxiv· April 2025

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Social Determinants of Hepatitis C Virus Infection in the United States, 2016-2021.
Justin K Niles, Alexandra Panov, Alice Saparov, William A Meyer, Harvey W Kaufman

Popul Health Manag· August 2024

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