Michael B. Fernando

R-loop landscapes in the developing human brain are linked to neural differentiation and cell-type specific transcription

The paper maps R-loop landscapes in the developing human brain and shows their role in neural differentiation and gene expression programs.

Cell-type-resolved NRXN1 isoforms across human brain tissues and hiPSC cortical organoids

The paper develops an integrative sequencing strategy to catalog NRXN1 isoforms across human brain tissues and hiPSC organoids, revealing cell-type-specific splicing patterns and therapeutic potential of ASO targeting.

Phenotypic complexities of rare heterozygous neurexin-1 deletions

This study investigates the phenotypic complexities of rare heterozygous NRXN1 deletions, showing cell-type-specific synaptic effects through LOF and GOF mechanisms, highlighting the need for precision medicine strategies.

Upregulated GIRK2 counteracts ethanol-induced changes in excitability and respiration in human neurons

The paper investigates how upregulated GIRK2 affects ethanol-induced changes in human neurons, showing it counteracts excitability and respiration changes.

From compartments to gene loops: Functions of the 3D genome in the human brain

This study investigates the 3D genome organization in human brain development, finding differences in compartment and loop domain formation between neurons and glia.

The three-dimensional landscape of chromatin accessibility in Alzheimer's disease

This study maps chromatin accessibility in Alzheimer's disease using ATAC-seq, identifying regulatory changes and 3D genomic alterations linked to disease.

Population-level variation of enhancer expression identifies novel disease mechanisms in the human brain

The paper identifies population-level variation in enhancer expression in the human brain and links enhancer eQTL to schizophrenia heritability.

Molecular Networks and Key Regulators of the Dysregulated Neuronal System in Alzheimer’s Disease

This study identifies molecular networks and key regulators in Alzheimer’s Disease using integrative genomics and experimental validation.