Benjamin Currall

This study identifies how epigenetic changes and spatial clustering influence immune dynamics and therapy resistance in melanoma through single-cell and spatial transcriptomics analyses.

The paper investigates how POGZ loss-of-function affects transcription factor binding and gene expression in neurons, revealing shared molecular changes with other NDD-related genes.

This study shows miR-29a reprograms exhausted CD8 T cells into a stem-like state, enhancing their effector function and response to checkpoint inhibitors.

The paper identifies WAPL as a novel cohesinopathy gene and driver of a genomic disorder, showing its role in developmental delay and other anomalies through clinical, in vitro, and in vivo analyses.

The paper investigates the functional role of recursive splicing in CADM2, showing that its deletion leads to altered gene expression and behavioral changes in neurodevelopmental disorders.

This paper resolves ring chromosomes, Robertsonian translocations, and complex structural variants using long-read sequencing and telomere-to-telomere assembly, revealing breakpoint structures and methylation changes.

This study uses transcriptome analysis in a humanized mouse model of FD to identify tissue-specific gene expression disruptions in the peripheral nervous system.

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.

This study identifies molecular and functional changes in mouse and human models of 16p11.2 reciprocal genomic disorder, revealing context-specific disruptions in energy metabolism, RNA processing, and neuronal development.

The paper investigates how dystonia-specific mutations in THAP1 affect gene transcription related to neurodevelopment and myelin in iPSC-derived neural cells and mouse models.

This study evaluates genome sequencing as a single diagnostic approach for fetal structural anomalies, showing it detects nearly all variants from standard tests and provides higher diagnostic yield than individual tests.

This paper develops a piggyBac transposon system for CRISPR library delivery to human iPSCs, enabling scalable mutational modeling of genes and variants.

This study examines the role of noncoding variation in autism spectrum disorder using whole genome sequencing of 2,076 genomes, finding no significant association after correction for multiple testing.

This study identifies the causal mechanism of X-linked Dystonia-Parkinsonism (XDP) by integrating genome and transcriptome assembly, revealing a SVA insertion causing intron retention and TAF1 dysfunction.