Kristina Lanko

EpiSignaLR: an open resource for genome-wide episignature analysis from methylation-aware short- and long-read sequencing

The paper develops EpiSignaLR, a resource for genome-wide episignature analysis using methylation-aware sequencing data, identifying DMRs and classifiers for three neurodevelopmental disorders.

Non-polio enteroviruses compromise the electrophysiology of a human iPSC-derived neural network

This study investigates how EV-D68 and EV-A71 affect neural activity in human iPSC-derived neural co-cultures, finding virus-specific disruptions without correlation to replication efficiency.

Hao-Fountain syndrome protein USP7 controls neuronal differentiation via BCOR-ncPRC1.1

The paper identifies USP7's role in neuronal differentiation by regulating BCOR-ncPRC1.1, revealing a shared epigenetic network in neurodevelopmental disorders.

BRAIN-MAGNET: A novel functional genomics atlas coupled with convolutional neural networks facilitates clinical interpretation of disease relevant variants in non-coding regulatory elements

The paper develops BRAIN-MAGNET, a convolutional neural network that predicts non-coding regulatory element activity and helps prioritize disease-causing variants in neurogenetic disorders.

Comprehensive multi-omics integration identifies differentially active enhancers during human brain development with clinical relevance

The paper identifies 39,709 differentially active enhancers in human fetal brain development linked to neurodevelopmental disorders and GWAS loci.

Delineating the molecular and phenotypic spectrum of the SETD1B-related syndrome

The paper characterizes the clinical and molecular features of 36 individuals with SETD1B variants, identifying a core phenotype of developmental delay and variable epilepsy, with male predominance and potential sex-linked effects.