GraphTyper2 enables population-scale genotyping of structural variation using pangenome graphs

por Hannes P. Eggertsson, Snaedis Kristmundsdottir, Doruk Beyter, Hakon Jonsson, Astros Skuladottir, Marteinn T. Hardarson, Daniel F. Gudbjartsson, Kari Stefansson, Bjarni V. Halldorsson, Pall Melsted
Publicado 2019

MAP1B mutations cause intellectual disability and extensive white matter deficit

por G. Bragi Walters, Omar Gustafsson, Gardar Sveinbjornsson, Valgerdur K. Eiriksdottir, Arna B. Agustsdottir, Gudrun A. Jonsdottir, Stacy Steinberg, Arni F. Gunnarsson, Magnus I. Magnusson, Unnur Unnsteinsdottir, Amy L. Lee, Adalbjorg Jonasdottir, Asgeir Sigurdsson, Aslaug Jonasdottir, Astros Skuladottir, Lina Jonsson, Muhammad S. Nawaz, Patrick Sulem, Mike Frigge, Andres Ingason, Askell Love, Gudmundur L. Norddhal, Mark Zervas, Daniel F. Gudbjartsson, Magnus O. Ulfarsson, Evald Saemundsen, Hreinn Stefansson, Kari Stefansson
Publicado 2018

A PRPH splice-donor variant associates with reduced sural nerve amplitude and risk of peripheral neuropathy

por Gyda Bjornsdottir, Erna V. Ivarsdottir, Kristbjorg Bjarnadottir, Stefania Benonisdottir, Sandra Sif Gylfadottir, Gudny A. Arnadottir, Rafn Benediktsson, Gisli Hreinn Halldorsson, Anna Helgadottir, Adalbjorg Jonasdottir, Aslaug Jonasdottir, Ingileif Jonsdottir, Anna Margret Kristinsdottir, Olafur Th. Magnusson, Gisli Masson, Pall Melsted, Thorunn Rafnar, Asgeir Sigurdsson, Gunnar Sigurdsson, Astros Skuladottir, Valgerdur Steinthorsdottir, Unnur Styrkarsdottir, Gudmundur Thorgeirsson, Gudmar Thorleifsson, Arnor Vikingsson, Daniel F. Gudbjartsson, Hilma Holm, Hreinn Stefansson, Unnur Thorsteinsdottir, Gudmundur L. Norddahl, Patrick Sulem, Thorgeir E. Thorgeirsson, Kari Stefansson
Publicado 2019