Mutation burden in patients with small unrepaired atrial septal defects

by Anne Kathrine Møller Nielsen, Camilla Nyboe, Anne Sif Lund Ovesen, Sebastian Udholm, Malthe Mølgård Larsen, Vibeke E. Hjortdal, Lars Allan Larsen
Published 2021-08-01

TGF-β Signaling Is Associated with Endocytosis at the Pocket Region of the Primary Cilium

by Christian Alexandro Clement, Katrine Dalsgaard Ajbro, Karen Koefoed, Maj Linea Vestergaard, Iben Rønn Veland, Maria Perestrello Ramos Henriques de Jesus, Lotte Bang Pedersen, Alexandre Benmerah, Claus Yding Andersen, Lars Allan Larsen, Søren Tvorup Christensen
Published 2013-06-01

RRP7A links primary microcephaly to dysfunction of ribosome biogenesis, resorption of primary cilia, and neurogenesis

by Muhammad Farooq, Louise Lindbæk, Nicolai Krogh, Canan Doganli, Cecilie Keller, Maren Mönnich, André Brás Gonçalves, Srinivasan Sakthivel, Yuan Mang, Ambrin Fatima, Vivi Søgaard Andersen, Muhammad S. Hussain, Hans Eiberg, Lars Hansen, Klaus Wilbrandt Kjaer, Jay Gopalakrishnan, Lotte Bang Pedersen, Kjeld Møllgård, Henrik Nielsen, Shahid. M. Baig, Niels Tommerup, Søren Tvorup Christensen, Lars Allan Larsen
Published 2020-11-01

Integrative analysis of genomic variants reveals new associations of candidate haploinsufficient genes with congenital heart disease.

by Enrique Audain, Anna Wilsdon, Jeroen Breckpot, Jose M G Izarzugaza, Tomas W Fitzgerald, Anne-Karin Kahlert, Alejandro Sifrim, Florian Wünnemann, Yasset Perez-Riverol, Hashim Abdul-Khaliq, Mads Bak, Anne S Bassett, Woodrow D Benson, Felix Berger, Ingo Daehnert, Koenraad Devriendt, Sven Dittrich, Piers Ef Daubeney, Vidu Garg, Karl Hackmann, Kirstin Hoff, Philipp Hofmann, Gregor Dombrowsky, Thomas Pickardt, Ulrike Bauer, Bernard D Keavney, Sabine Klaassen, Hans-Heiner Kramer, Christian R Marshall, Dianna M Milewicz, Scott Lemaire, Joseph S Coselli, Michael E Mitchell, Aoy Tomita-Mitchell, Siddharth K Prakash, Karl Stamm, Alexandre F R Stewart, Candice K Silversides, Reiner Siebert, Brigitte Stiller, Jill A Rosenfeld, Inga Vater, Alex V Postma, Almuth Caliebe, J David Brook, Gregor Andelfinger, Matthew E Hurles, Bernard Thienpont, Lars Allan Larsen, Marc-Phillip Hitz
Published 2021-07-01