Author: Jana Vandrovcova

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Preprints

Whole genome sequencing for diagnosis of neurological repeat expansion disorders

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Loss of UGP2 in brain leads to a severe epileptic encephalopathy, emphasizing that bi-allelic isoform specific start-loss mutations of essential genes can cause genetic diseases

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Human-lineage-specific genomic elements: relevance to neurodegenerative disease and APOE transcript usage

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  • In neuroscience: 10,619
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Regulatory sites for known and novel splicing in human basal ganglia are enriched for disease-relevant information

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Transcriptomic analysis of dystonia-associated genes reveals functional convergence within specific cell types and shared neurobiology with psychiatric disorders

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DEFINING CANDIDATE PARKINSONS DISEASE GENES THROUGH THE ANALYSIS OF GENOME-WIDE HOMOZYGOSITY

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