Carmel McCullough

Utilizing RNA and outlier analysis to identify an intronic splice-altering variant in AP4S1 in a sibling pair with progressive spastic paraplegia

Case report · Human Mutation · 2020 · First of 11 authors · 7 citations

Resolving spatial subclonal genomic heterogeneity of loss of heterozygosity and extrachromosomal DNA in gliomas

Nature Communications · 2025 · 7 citations