Identifying the genetic causes of phenotypically diagnosed Pakistani mucopolysaccharidoses patients by whole genome sequencing

por Gul, Rutaba, Firasat, Sabika, Schubert, Mikkel, Ullah, Asmat, Peña, Elionora, Thuesen, Anne C. B., Hussain, Mulazim, Staeger, Frederik F., Gjesing, Anette P., Albrechtsen, Anders, Hansen, Torben
Publicado 2023

An LDLR missense variant poses high risk of familial hypercholesterolemia in 30% of Greenlanders and offers potential of early cardiovascular disease intervention

por Jørsboe, Emil, Andersen, Mette K., Skotte, Line, Stæger, Frederik F., Færgeman, Nils J., Hanghøj, Kristian, Santander, Cindy G., Senftleber, Ninna K., Diaz, Lars J., Overvad, Maria, Waples, Ryan K., Geller, Frank, Bjerregaard, Peter, Melbye, Mads, Larsen, Christina V.L., Feenstra, Bjarke, Anders Koch, Jørgensen, Marit E., Grarup, Niels, Moltke, Ida, Albrechtsen, Anders, Hansen, Torben
Publicado 2022

Life-threatening viral disease in a novel form of autosomal recessive IFNAR2 deficiency in the Arctic

por Duncan, Christopher J.A., Skouboe, Morten K., Howarth, Sophie, Hollensen, Anne K., Chen, Rui, Børresen, Malene L., Thompson, Benjamin J., Stremenova Spegarova, Jarmila, Hatton, Catherine F., Stæger, Frederik F., Andersen, Mette K., Whittaker, John, Paludan, Søren R., Jørgensen, Sofie E., Thomsen, Martin K., Mikkelsen, Jacob G., Heilmann, Carsten, Buhas, Daniela, Øbro, Nina F., Bay, Jakob T., Marquart, Hanne V., de la Morena, M. Teresa, Klejka, Joseph A., Hirschfeld, Matthew, Borgwardt, Line, Forss, Isabel, Masmas, Tania, Poulsen, Anja, Noya, Francisco, Rouleau, Guy, Hansen, Torben, Zhou, Sirui, Albrechtsen, Anders, Alizadehfar, Reza, Allenspach, Eric J., Hambleton, Sophie, Mogensen, Trine H.
Publicado 2022