Måns Magnusson

MultiQC: summarize analysis results for multiple tools and samples in a single report

Philip Ewels, Måns Magnusson, Sverker Lundin et al. · Bioinformatics · 2016 · 9.5K citations · Full text

An international effort towards developing standards for best practices in analysis, interpretation and reporting of clinical genome sequencing results in the CLARITY Challenge

Catherine A. Brownstein, Alan H. Beggs, Nils Homer et al. · Genome biology · 2014 · 432 citations · Full text

Integration of whole genome sequencing into a healthcare setting: high diagnostic rates across multiple clinical entities in 3219 rare disease patients

Henrik Stranneheim, Kristina Lagerstedt‐Robinson, Måns Magnusson et al. · Genome Medicine · 2021 · 253 citations · Full text

Dominant Mutations in GRHL3 Cause Van der Woude Syndrome and Disrupt Oral Periderm Development

Myriam Peyrard‐Janvid, Elizabeth J. Leslie, Youssef A. Kousa et al. · The American Journal of Human Genetics · 2013 · 227 citations · Full text

From cytogenetics to cytogenomics: whole-genome sequencing as a first-line test comprehensively captures the diverse spectrum of disease-causing genetic variation underlying intellectual disability

Anna Lindstrand, Jesper Eisfeldt, Maria Pettersson et al. · Genome Medicine · 2019 · 139 citations · Full text