Hannah L. Macpherson

Recurrent leukaemia stem cell states define the antigenic landscape of paediatric Acute Myeloid Leukaemia

This study identifies three leukaemia stem cell subtypes in paediatric AML and shows that combining CLEC12A and CD84 targets all subtypes while sparing healthy cells.

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.

Identification of common variants influencing risk of the three-repeat tauopathy Pick's disease: a genome wide association study.

This study conducts a GWAS on Pick's disease and identifies two SNPs associated with risk, though not at genome-wide significance, suggesting potential genetic factors beyond MAPT mutations.

TDP-43 loss of function drives aberrant splicing in Parkinson's disease

The paper identifies splicing dysregulation in Parkinson's disease linked to TDP-43 loss of function and shows its association with genetic mutations and cellular models.

Independent Generation of Amyloid-β via Novel APP Transcripts

The paper identifies novel APP transcripts that generate Aβ independently of β-secretase, showing their expression and presence in CSF.

Molecular and cellular signatures differentiate Parkinson's disease from Parkinson's disease with dementia

This study compares molecular and cellular signatures of Parkinson's disease and Parkinson's disease with dementia using single-nuclear transcriptomics, finding distinct gene expression patterns and biological pathways.

Contaminating manufacturing plasmids and disrupted vector genomes present in liver tissue following adeno-associated virus gene therapy

The paper identifies manufacturing plasmid sequences and disrupted vector genomes in liver tissue from a patient with AAV gene therapy-related hepatitis.

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.

FGF14 repeat length and mosaic interruptions: modifiers of SCA27B?

The paper investigates FGF14 repeat interruptions in ataxia patients and unaffected individuals, finding that mosaic interruptions (mDRILS) correlate with age at onset and affect pathogenicity.

Long-read transcriptomic identification of synaptic adaptation to amyloid pathology in the App(NL-G-F) knock-in mouse model of the earliest phase of Alzheimer's disease

The paper uses long-read RNA-seq to study splicing changes in an Alzheimer's mouse model, identifying novel transcript isoforms and alternative splicing events in response to amyloid-beta.

The annotation and function of the Parkinson's and Gaucher disease-linked gene GBA1 has been concealed by its protein-coding pseudogene GBAP1

The paper shows that sequencing ambiguity between GBA1 and its pseudogene GBAP1 affects transcriptomic analysis, revealing non-lysosomal functions in the brain and widespread annotation inaccuracies.

The diversity of SNCA transcripts in neurons, and its impact on antisense oligonucleotide therapeutics

The paper identifies novel SNCA transcripts in human dopaminergic neurons and demonstrates their impact on antisense oligonucleotide therapy for Parkinson's disease.