Cecilia Gunnarsson

Publikationer

2023

Emma Adolfsson, Daniel Kling, Cecilia Gunnarsson, Jon Jonasson, Henrik Green, Anna Green (2023) Whole exome sequencing of FFPE samples - expanding the horizon of forensic molecular autopsies International journal of legal medicine, Vol. 137, s. 1215-1234 Vidare till DOI

Teresa Mínguez‐Viñas, Varsha Prakash, Kaiqian Wang, Sarah Lindström, Serena Pozzi, Stuart A. Scott, Elizabeth Spiteri, David A. Stevenson, Euan A. Ashley, Cecilia Gunnarsson, Antonios Pantazis (2023) Two epilepsy‐associated variants in KCNA2 (K_V1.2) at position H310 oppositely affect channel functional expression Journal of Physiology, Vol. 601, s. 5367-5389 Vidare till DOI

Josefin Johansson, Sarah Lideus, Carina Frykholm, Cecilia Gunnarsson, Filip Mihalic, Sanna Gudmundsson, Sara Ekvall, Anna-Maja Molin, Mai Pham, Mauno Vihinen, Kristina Lagerstedt-Robinson, Ann Nordgren, Per Jemth, Adam Ameur, Goeran Anneren, Maria Wilbe, Marie-Louise Bondeson (2023) Gustavson syndrome is caused by an in-frame deletion in RBMX associated with potentially disturbed SH3 domain interactions European Journal of Human Genetics Vidare till DOI

Svea Horn, Magdalena Danyel, Nina Erdmann, Felix Boschann, Cecilia Gunnarsson, Saskia Biskup, Jerome Juengling, Cornelia Potratz, Christine Prager, Angela M. Kaindl (2023) Case report: KPTN gene-related syndrome associated with a spectrum of neurodevelopmental anomalies including severe epilepsy Frontiers in Neurology, Vol. 13, Artikel 1113811 Vidare till DOI

Michael Schoen, Pablo Lapunzina, Teresa Mattina, Cecilia Gunnarsson, Kinga Hadzsiev, Chiara Verpelli, Thomas Bourgeron, Sarah Jesse, Conny M. A. Van Ravenswaaij-Arts, the European Phelan-McDermid syndrome consortium, Raoul C. Hennekam (2023) Definition and clinical variability of SHANK3-related Phelan-McDermid syndrome European Journal of Medical Genetics, Vol. 66, Artikel 104754 Vidare till DOI