A progressive and complex clinical course in two family members with ERF-related craniosynostosis: a case report by Izabella Körberg, Daniel Nowinski, Marie-Louise Bondeson, Malin Melin, Lars Kölby, Eva-Lena Stattin

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A novel quantitative targeted analysis of X-chromosome inactivation (XCI) using nanopore sequencing by Josefin Johansson, Sarah Lidéus, Ida Höijer, Adam Ameur, Sanna Gudmundsson, Göran Annerén, Marie-Louise Bondeson, Maria Wilbe

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Common founder effects of hereditary hemochromatosis, Wilson´s disease, the long QT syndrome and autosomal recessive deafness caused by two novel mutations in the WHRN and TMC1 gen... by K. Sigvard Olsson, Olof Wålinder, Ulf Jansson, Maria Wilbe, Marie-Louise Bondeson, Eva-Lena Stattin, Ruma Raha-Chowdhury, Roger Williams

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Amplification-free long-read sequencing reveals unforeseen CRISPR-Cas9 off-target activity by Ida Höijer, Josefin Johansson, Sanna Gudmundsson, Chen-Shan Chin, Ignas Bunikis, Susana Häggqvist, Anastasia Emmanouilidou, Maria Wilbe, Marcel den Hoed, Marie-Louise Bondeson, Lars Feuk, Ulf Gyllensten, Adam Ameur

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