Björn Menten

A randomized trial compares genome sequencing to standard of care in diagnosing developmental disorders, finding higher diagnostic yield with genome sequencing.

The paper introduces cf-RRBS, a method for methylation profiling of fragmented plasma DNA, enabling cost-effective and accurate non-invasive lung cancer subtyping.

This study identifies ZFHX4 loss-of-function variants as a cause of a neurodevelopmental disorder with distinctive facial features and brain abnormalities, supported by zebrafish models.

The paper identifies NESPR, an adrenergic-specific lncRNA, as a regulator of neuroblastoma cell identity that prevents cell death by attenuating stress.

The paper identifies a regulatory region affecting FOXG1 transcription in neurodevelopment through structural variants and chromatin analysis.

This study uses long-read sequencing and optical genome mapping to fully characterize unresolved structural variants, achieving single-basepair resolution and improving diagnostic yield.

The paper investigates the effects of MEF2C mutations and chromatin structural variants on transcriptional and functional outcomes in neuronal models, revealing differential impacts based on mutation type and chromatin topology.

The paper identifies focal copy number alterations in lncRNAs across cancer cell lines, suggesting potential oncogenic or tumor suppressive roles.