Alice Saparov
Munich, BY, Germany
Last Updated: 09/26/2026
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Found 11 publications
Resolving Complex Structural Variants in Undiagnosed Rare Movement Disorders via Multimodal Genomics and Multi-omics.
Journal: Movement disorders : official journal of the Movement Disorder Society
Published: April 28, 2026
Splice effect of a synonymous variant in AP4B1: multiomics approach establishes the diagnosis in two sisters with spastic paraplegia.
Journal: Human mutation
Published: April 21, 2026
Neurodevelopmental Disorder with Dystonia and Chorea Linked to De Novo Variants in the Splicing Regulator SRRM4.
Journal: Movement disorders : official journal of the Movement Disorder Society
Published: December 19, 2025
Fibroblast Transcriptomics in Molecular Diagnostics of a Comprehensive Dystonia Cohort.
Journal: Annals of neurology
Published: September 24, 2025
From text to translation: using language models to prioritize variants for clinical review.
Journal: Genome medicine
Published: September 17, 2025
Integrating Long-Read Nanopore Sequencing for Precision Resolution of Genomic Variants in Dystonia.
Journal: Movement disorders : official journal of the Movement Disorder Society
Published: July 11, 2025
Deciphering DST-associated disorders: biallelic variants affecting DST-b cause a congenital myopathy.
Journal: Brain : a journal of neurology
Published: February 21, 2025
Expanding the Allelic and Clinical Heterogeneity of Movement Disorders Linked to Defects of Mitochondrial Adenosine Triphosphate Synthase.
Journal: Movement disorders : official journal of the Movement Disorder Society
Published: January 15, 2025
From Text to Translation: Using Language Models to Prioritize Variants for Clinical Review.
Journal: medRxiv : the preprint server for health sciences
Published: January 13, 2025
Big data and transformative bioinformatics in genomic diagnostics and beyond.
Journal: Parkinsonism & related disorders
Published: December 11, 2024
Combined genomics and proteomics unveils elusive variants and vast aetiologic heterogeneity in dystonia.
Journal: Brain : a journal of neurology
Published: October 04, 2024
Showing 1-11 of 11
Last Updated: 09/26/2026