Claire Anderson

RAPID: A Targeted Long-Read RNA Workflow for Functional Resolution of Splicing Variants in Rare Disease

RAPID uses targeted long-read RNA sequencing to resolve splice variants in rare disease cases, providing functional evidence for diagnosis and variant interpretation.

Molecular basis of competence for neural induction in the chick embryo

The paper identifies molecular differences in chick embryo regions that lack competence for neural induction, showing that BMP inhibition and ERK stimulation can restore competence in some areas but not others.

Targeted long-read RNA sequencing reveals the complexity of CLN3 transcription and the consequences of the most common 1-kb deletion in patients with juvenile CLN3 disease

The paper uses long-read RNA sequencing to analyze CLN3 transcription complexity and the impact of a common 1-kb deletion in juvenile CLN3 disease, revealing multiple transcripts and isoforms.

The organizer as a cooperative of signaling cells for neural induction

The paper uses single-cell and tissue transcriptomics to show the organizer is a diverse collection of signaling cell sub-populations, not a single homogeneous population.

Transcriptomic analysis of repeat expansion-ataxias uncovers distinct non-neuronal cell type-specific signatures of disease across the human brain

This study uses bulk and single nuclear RNA-sequencing to analyze transcriptomic changes in repeat expansion ataxias, revealing distinct non-neuronal cell type-specific disease signatures across the human brain.

A gene regulatory network for neural induction

The paper constructs a gene regulatory network for neural induction using transcriptomics and epigenomics data, revealing 175 regulators and 5,614 interactions with temporal dynamics.

A 3D molecular atlas of the chick embryonic heart

The paper creates a 3D molecular atlas of the chick embryonic heart at HH12 by analyzing gene expression in 13 micro-dissected regions and validating findings with in situ hybridisation and imaging techniques.