Henrik Stranneheim

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

Mutations in SLC12A5 in epilepsy of infancy with migrating focal seizures

Tommy Stödberg, Amy McTague, Arnaud Ruiz et al. · Nature Communications · 2015 · 175 citations · Full text

Kcc2 Dysfunction, Genetics, Neurotransmitter +18

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

Increased Throughput by Parallelization of Library Preparation for Massive Sequencing

Sverker Lundin, Henrik Stranneheim, Erik Pettersson et al. · PLoS ONE · 2010 · 128 citations · Full text