Justine E. Marum

Integrative genomic analysis reveals cancer-associated mutations at diagnosis of CML in patients with high-risk disease

Susan Branford, Paul Wang, David T Yeung et al. · Blood · 2018 · 203 citations · Full text

Meeting the challenges of implementing rapid genomic testing in acute pediatric care

Zornitza Stark, Sebastian Lunke, Gemma R. Brett et al. · Genetics in Medicine · 2018 · 162 citations · Full text

Mutations in LYRM4, encoding iron–sulfur cluster biogenesis factor ISD11, cause deficiency of multiple respiratory chain complexes

Sze Chern Lim, Martin Friemel, Justine E. Marum et al. · Human Molecular Genetics · 2013 · 136 citations · Full text

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 · 99 citations

Medicine, Genetics, Rna Splicing +11

A Founder Mutation in PET100 Causes Isolated Complex IV Deficiency in Lebanese Individuals with Leigh Syndrome

Sze Chern Lim, Katherine R. Smith, David A. Stroud et al. · The American Journal of Human Genetics · 2014 · 67 citations · Full text

Founder Mutation, Lebanese Individuals, Mendelian Disorder +9