Genome medicine

Systematic identification of disease-causing promoter and untranslated region variants in 8040 undiagnosed individuals with rare disease.

Single-cell RNA-seq reveals alterations in peripheral CX3CR1 and nonclassical monocytes in familial tauopathy.

Towards elucidating disease-relevant states of neurons and glia by CRISPR-based functional genomics.

Developmental dynamics of voltage-gated sodium channel isoform expression in the human and mouse brain.

Rare deleterious mutations of HNRNP genes result in shared neurodevelopmental disorders.

Clinical impact of splicing in neurodevelopmental disorders.

Modeling the cumulative genetic risk for multiple sclerosis from genome-wide association data.

Modeling the cumulative genetic risk for multiple sclerosis from genome-wide association data.

Narrowing down the role of common variants in the genetic predisposition to obesity.

Narrowing down the role of common variants in the genetic predisposition to obesity.