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Publications by Slavé Petrovski

Sequencing Studies in Human Genetics: Design and Interpretation

Nature Reviews Genetics
GeneticsMolecular Biology
2013English

Optimizing Genomic Medicine in Epilepsy Through a Gene-Customized Approach to Missense Variant Interpretation

Genome Research
Genetics
2017English

Expanding the Spectrum of BAF-Related Disorders: De Novo Variants in SMARCC2 Cause a Syndrome With Intellectual Disability and Developmental Delay

American Journal of Human Genetics
Genetics
2019English

Mosaic Mutations in Early-Onset Genetic Diseases

Genetics in Medicine
MedicineGenetics
2015English

Genic Intolerance to Functional Variation and the Interpretation of Personal Genomes

PLoS Genetics
EvolutionEcologyGeneticsMolecular BiologyCancer ResearchSystematicsBehavior
2013English

Re-Annotation of 191 Developmental and Epileptic Encephalopathy-Associated Genes Unmasks De Novo Variants in SCN1A

npj Genomic Medicine
GeneticsMolecular Biology
2019English

Development of a Rapid Functional Assay That Predicts GLUT1 Disease Severity

Neurology: Genetics
NeurologyGenetics
2018English

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