Josefin Johansson

Amplification-free long-read sequencing reveals unforeseen CRISPR-Cas9 off-target activity

Ida Höijer, Josefin Johansson, Sanna Gudmundsson et al. · Genome biology · 2020 · 65 citations · Full text

TAF1, associated with intellectual disability in humans, is essential for embryogenesis and regulates neurodevelopmental processes in zebrafish

Sanna Gudmundsson, Maria Wilbe, Beata Filipek‐Górniok et al. · Scientific Reports · 2019 · 44 citations · Full text

Loss of Nexilin function leads to a recessive lethal fetal cardiomyopathy characterized by cardiomegaly and endocardial fibroelastosis

Josefin Johansson, Carina Frykholm, Katharina Ericson et al. · American Journal of Medical Genetics Part A · 2022 · 26 citations · Full text

Cardiac Muscle, Cardiomyopathy, Heart Failure +14

A novel quantitative targeted analysis of X-chromosome inactivation (XCI) using nanopore sequencing

Josefin Johansson, Sarah Lidéus, Ida Höijer et al. · Scientific Reports · 2023 · 25 citations · Full text

A novel approach using long‐read sequencing and ddPCR to investigate gonadal mosaicism and estimate recurrence risk in two families with developmental disorders

Maria Wilbe, Sanna Gudmundsson, Josefin Johansson et al. · Prenatal Diagnosis · 2017 · 24 citations · Full text