Karola Rehnström

Genomic Relationships, Novel Loci, and Pleiotropic Mechanisms across Eight Psychiatric Disorders

Phil H. Lee, Verneri Anttila, Hyejung Won et al. · Cell · 2019 · 1.4K citations · Full text

Psychiatry, Psychiatric Disorders, Genetic Disorder +15

Lineage-Specific Genome Architecture Links Enhancers and Non-coding Disease Variants to Target Gene Promoters

Biola M. Javierre, Oliver S. Burren, Steven P. Wilder et al. · Cell · 2016 · 1.1K citations · Full text

A framework for the interpretation of de novo mutation in human disease

Kaitlin E. Samocha, Elise Robinson, Stephan Sanders et al. · Nature Genetics · 2014 · 1.1K citations · Full text

Somatic Variant, Genetic Disorder, Medicine +7

Genetic Drivers of Epigenetic and Transcriptional Variation in Human Immune Cells

Lu Chen, Bing Ge, Francesco Paolo Casale et al. · Cell · 2016 · 746 citations · Full text

Comprehensive Rare Variant Analysis via Whole-Genome Sequencing to Determine the Molecular Pathology of Inherited Retinal Disease

Keren Carss, Gavin Arno, Marie Erwood et al. · The American Journal of Human Genetics · 2016 · 463 citations · Full text

Whole-genome Sequencing, Allelic Variant, Genetic Disorder +11