Christine C. Bruels

POLRMT mutations impair mitochondrial transcription causing neurological disease

Monika Oláhová, Bradley Peter, Zsolt Szilágyi et al. · Nature Communications · 2021 · 57 citations · Full text

Consequences of MEGF10 deficiency on myoblast function and Notch1 interactions

Madhurima Saha, Satomi Mitsuhashi, Michael D. Jones et al. · Human Molecular Genetics · 2017 · 47 citations · Full text

Knockout Mouse, Developmental Biology, Genetics +13

A form of muscular dystrophy associated with pathogenic variants in JAG2

Sandra Coppens, Alison M. Barnard, Sanna Puusepp et al. · The American Journal of Human Genetics · 2021 · 39 citations · Full text

Mendelian Disorder, Genetic Disorder, Medicine +10

Diagnostic capabilities of nanopore long‐read sequencing in muscular dystrophy

Christine C. Bruels, Hannah R. Littel, Audrey L. Daugherty et al. · Annals of Clinical and Translational Neurology · 2022 · 39 citations · Full text

Engineering, Exome Sequencing, Genetics +19

Bi-allelic variants in HMGCR cause an autosomal-recessive progressive limb-girdle muscular dystrophy

Joel A. Morales‐Rosado, Tanya L. Schwab, Sarah K. Macklin‐Mantia et al. · The American Journal of Human Genetics · 2023 · 33 citations · Full text

Allelic Variant, Genetic Disorder, Medicine +7