Dominant optic atrophy in Denmark – report of 15 novel mutations in <it>OPA1</it>, using a strategy with a detection rate of 90%

by Almind Gitte J, Ek Jakob, Rosenberg Thomas, Eiberg Hans, Larsen Michael, LuCamp LuCamp, Brøndum-Nielsen Karen, Grønskov Karen
Published 2012-08-01

Rare truncating variants in the sarcomeric protein titin associate with familial and early-onset atrial fibrillation

by Gustav Ahlberg, Lena Refsgaard, Pia R. Lundegaard, Laura Andreasen, Mattis F. Ranthe, Nora Linscheid, Jonas B. Nielsen, Mads Melbye, Stig Haunsø, Ahmad Sajadieh, Lu Camp, Søren-Peter Olesen, Simon Rasmussen, Alicia Lundby, Patrick T. Ellinor, Anders G. Holst, Jesper H. Svendsen, Morten S. Olesen
Published 2018-10-01