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Human Genetics|February 4, 2023
Interpreting variants in genes affected by clonal hematopoiesis in population dataSanna Gudmundsson, Colleen M Carlston, Anne O'Donnell-Luria
American Journal of Medical Genetics. Part A|April 18, 2018
A novel ECEL1 mutation expands the phenotype of distal arthrogryposis multiplex congenita type 5D to include pretibial vertical skin creasesEva-Lena Stattin, Josefin Johansson, Sanna Gudmundsson, et al.
European Journal of Medical Genetics|August 21, 2018
A novel RAD21 p.(Gln592del) variant expands the clinical description of Cornelia de Lange syndrome type 4 - Review of the literatureSanna Gudmundsson, Göran Annerén, Íñigo Marcos-Alcalde, et al.
Scientific Reports|August 8, 2023
A novel quantitative targeted analysis of X-chromosome inactivation (XCI) using nanopore sequencingJosefin Johansson, Sarah Lidéus, Ida Höijer, et al.
Prenatal Diagnosis|September 19, 2017
A novel approach using long-read sequencing and ddPCR to investigate gonadal mosaicism and estimate recurrence risk in two families with developmental disordersMaria Wilbe, Sanna Gudmundsson, Josefin Johansson, et al.
Human Mutation|December 3, 2021
Variant interpretation using population databases: Lessons from gnomADSanna Gudmundsson, Moriel Singer-Berk, Nicholas A Watts, et al.
Human Molecular Genetics|February 4, 2017
Revertant mosaicism repairs skin lesions in a patient with keratitis-ichthyosis-deafness syndrome by second-site mutations in connexin 26Sanna Gudmundsson, Maria Wilbe, Sara Ekvall, et al.
American Journal of Medical Genetics. Part A|February 15, 2022
Loss of Nexilin function leads to a recessive lethal fetal cardiomyopathy characterized by cardiomegaly and endocardial fibroelastosisJosefin Johansson, Carina Frykholm, Katharina Ericson, et al.
Scientific Reports|July 26, 2019
TAF1, associated with intellectual disability in humans, is essential for embryogenesis and regulates neurodevelopmental processes in zebrafishSanna Gudmundsson, Maria Wilbe, Beata Filipek-Górniok, et al.
BMC Pulmonary Medicine|November 13, 2016
Targeted high-throughput sequencing of candidate genes for chronic obstructive pulmonary diseaseHans Matsson, Cilla Söderhäll, Elisabet Einarsdottir, et al.
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