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Publications by Natalya S. Cherepanova

Presence of Epilepsy-Associated Variants in Large Exome Databases

Journal of Neurogenetics

Molecular Neuroscience

English

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Blacklisting Variants Common in Private Cohorts but Not in Public Databases Optimizes Human Exome Analysis

Proceedings of the National Academy of Sciences of the United States of America

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Detecting Large Copy Number Variants Using Exome Genotyping Arrays in a Large Swedish Schizophrenia Sample

Molecular Psychiatry

Molecular Neuroscience

Molecular Biology

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Exome-Derived Adiponectin-Associated Variants Implicate Obesity and Lipid Biology

American Journal of Human Genetics

English

Genetic Mapping and Exome Sequencing Identify Variants Associated With Five Novel Diseases

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Functional Consequences of Epilepsy-Associated KCNQ2 Variants Determinend by Automated Electrophysiology

Biophysical Journal

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Detection of Copy Number Variations in Epilepsy Using Exome Data

Clinical Genetics

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New Population-Based Exome Data Are Questioning the Pathogenicity of Previously Cardiomyopathy-Associated Genetic Variants

European Journal of Human Genetics

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Whole Exome Sequencing for the Identification of CYP3A7 Variants Associated With Tacrolimus Concentrations in Kidney Transplant Patients

Scientific Reports

Multidisciplinary

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Whole-Genome Sequencing Is More Powerful Than Whole-Exome Sequencing for Detecting Exome Variants

Proceedings of the National Academy of Sciences of the United States of America

Multidisciplinary

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