Fulya Taylan

A national ecosystem for long-read genome sequencing: Integrating population genomics and rare disease diagnostics in Sweden

This paper evaluates the clinical use of long-read genome sequencing in Sweden, showing it provides molecular diagnoses and reduces diagnostic costs.

Spatial mapping of pediatric brain tumors across diagnoses and relapses

The paper creates a spatial transcriptomic atlas of pediatric brain tumors, identifying spatial archetypes and relapse-associated clones across multiple diagnoses.

Cumulative microscopy reveals cellular states in fibroblasts from patients with genetic disorders

The paper introduces cumulative microscopy to analyze cellular states in fibroblasts from patients with genetic disorders, finding replication stress in CHH but not MUL.

Biallelic variants in RNU2-2 cause a remarkably frequent developmental epileptic encephalopathy

The paper identifies biallelic variants in RNU2-2 as a frequent cause of a severe developmental epileptic encephalopathy, distinct from a dominant disorder, and links them to reduced U2-2 abundance.

Phenotypic and transcriptomic characterisation of a novel biallelic RNU2-2 developmental and epileptic encephalopathy

The paper identifies 14 individuals with biallelic RNU2-2 variants causing a severe developmental and epileptic encephalopathy, supported by phenotyping and fibroblast RNA sequencing.

Rare coding variants in NOX4 link high superoxide levels to psoriatic arthritis mutilans

The paper identifies rare NOX4 variants in psoriatic arthritis mutilans patients that increase ROS levels, linking them to disease pathogenesis and suggesting therapeutic targets.