Author: Detelina Grozeva

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Preprints

Complex Structural Variants Resolved by Short-Read and Long-Read Whole Genome Sequencing in Mendelian Disorders

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Exome sequencing identifies novel AD-associated genes.

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Systematic re-annotation of 191 genes associated with early-onset epilepsy unmasks de novo variants linked to Dravet syndrome in novel SCN1A exons

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Gene based Analysis in HRC Imputed Genome Wide Association Data Identifies Three Novel Genes for Alzheimer's Disease

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Functional Predictors of Causative Cis-Regulatory Mutations in Mendelian Disease

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