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1. Systems genetics analysis identifies calcium-signaling defects as novel cause of congenital heart disease

   Authors:Jose M. G. Izarzugaza, Sabrina G. Ellesøe, Canan Doganli, Natasja Spring Ehlers, Marlene D. Dalgaard, Enrique Audain, Gregor Dombrowsky, Karina Banasik, Alejandro Sifrim, Anna Wilsdon, Bernard Thienpont, Jeroen Breckpot, Marc Gewillig, J. David Brook, Marc-Phillip Hitz, Lars A. Larsen…

   Content type:Research

    

   28 August 2020

2. CAPICE: a computational method for Consequence-Agnostic Pathogenicity Interpretation of Clinical Exome variations

   Authors:Shuang Li, K. Joeri van der Velde, Dick de Ridder, Aalt D. J. van Dijk, Dimitrios Soudis, Leslie R. Zwerwer, Patrick Deelen, Dennis Hendriksen, Bart Charbon, Marielle E. van Gijn, Kristin Abbott, Birgit Sikkema-Raddatz, Cleo C. van Diemen, Wilhelmina S. Kerstjens-Frederikse, Richard J. Sinke and Morris A. Swertz

   Content type:Method

    

   24 August 2020

3. Investigation of a nonsense mutation located in the complex KIV-2 copy number variation region of apolipoprotein(a) in 10,910 individuals

   Authors:Silvia Di Maio, Rebecca Grüneis, Gertraud Streiter, Claudia Lamina, Manuel Maglione, Sebastian Schoenherr, Dietmar Öfner, Barbara Thorand, Annette Peters, Kai-Uwe Eckardt, Anna Köttgen, Florian Kronenberg and Stefan Coassin

   Content type:Research

    

   21 August 2020

4. A population-based gene expression signature of molecular clock phase from a single epidermal sample

   Authors:Gang Wu, Marc D. Ruben, Lauren J. Francey, David F. Smith, Joseph D. Sherrill, John E. Oblong, Kevin J. Mills and John B. Hogenesch

   Content type:Research

    

   21 August 2020

5. Detection of ctDNA in plasma of patients with clinically localised prostate cancer is associated with rapid disease progression

   Authors:Edmund Lau, Patrick McCoy, Fairleigh Reeves, Ken Chow, Michael Clarkson, Edmond M. Kwan, Kate Packwood, Helen Northen, Miao He, Zoya Kingsbury, Stefano Mangiola, Michael Kerger, Marc A. Furrer, Helen Crowe, Anthony J. Costello, David J. McBride…

   Content type:Research

    

   17 August 2020