Sarah J. Beecroft

Cerebellar ataxia, neuropathy, vestibular areflexia syndrome due to RFC1 repeat expansion

Andrea Cortese, Stefano Tozza, Wai Yan Yau et al. · Brain · 2020 · 220 citations · Full text

Medicine, Molecular Genetics, Neurology +13

Standardized practices for RNA diagnostics using clinically accessible specimens reclassifies 75% of putative splicing variants

Adam Bournazos, Lisa G. Riley, Shobhana Bommireddipalli et al. · Genetics in Medicine · 2021 · 104 citations · Full text

Life Sciences, Molecular Biology, Molecular Genetics +17

A novel RFC1 repeat motif (ACAGG) in two Asia-Pacific CANVAS families

Carolin K. Scriba, Sarah J. Beecroft, Joshua S. Clayton et al. · Brain · 2020 · 95 citations · Full text

Life Sciences, Genetics, Neurology +16

A Māori specific RFC1 pathogenic repeat configuration in CANVAS, likely due to a founder allele

Sarah J. Beecroft, Andrea Cortese, Roisin Sullivan et al. · Brain · 2020 · 80 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

STRling: a k-mer counting approach that detects short tandem repeat expansions at known and novel loci

Harriet Dashnow, Brent S. Pedersen, Laurel Hiatt et al. · Genome biology · 2022 · 64 citations · Full text

Life Sciences, Bioinformatics, Genetics +17