Hannah Macpherson

Genomic investigations of unexplained acute hepatitis in children

Sofia Morfopoulou, Sarah Buddle, Oscar Enrique Torres Montaguth et al. · Nature · 2023 · 124 citations · Full text

Normal and pathogenic variation of <i>RFC1</i> repeat expansions: implications for clinical diagnosis

Natalia Dominik, Stefania Magri, Riccardo Curró et al. · Brain · 2023 · 66 citations · Full text

Disease Progression, Immunodeficiencies, Genetics +21

Adaptive Long‐Read Sequencing Reveals <scp>GGC</scp> Repeat Expansion in <scp><i>ZFHX3</i></scp> Associated with Spinocerebellar Ataxia Type 4

Zhongbo Chen, Emil K. Gustavsson, Hannah Macpherson et al. · Movement Disorders · 2024 · 45 citations · Full text

The annotation of <i>GBA1</i> has been concealed by its protein-coding pseudogene <i>GBAP1</i>

Emil K. Gustavsson, Siddharth Sethi, Yujing Gao et al. · Science Advances · 2024 · 24 citations · Full text

MAPT H2 haplotype and risk of Pick's disease in the Pick's disease International Consortium: a genetic association study

Rebecca R. Valentino, William J. Scotton, Shanu F. Roemer et al. · The Lancet Neurology · 2024 · 22 citations · Full text