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A novel GFAP frameshift variant identified in a family with optico-retinal dysplasia and vision impairment Sarusie, Menachem V. K.; Ronnback, Cecilia; Jespersgaard, Cathrine; Baungaard, Sif; Ali, Yeasmeen; Kessel, Line; Christensen, Soren T.; Brondum-Nielsen, Karen; Mollgard, Kjeld; Rosenberg, Thomas; Larsen, Lars A.; Gronskov, Karen 分享 收藏
Rare homozygous cilia gene variants identified in consanguineous congenital heart disease patients Baird, Daniel A.; Mubeen, Hira; Doganli, Canan; Miltenburg, Jasmijn B.; Thomsen, Oskar Kaaber; Ali, Zafar; Naveed, Tahir; Rehman, Asif ur; Baig, Shahid Mahmood; Christensen, Soren Tvorup; Farooq, Muhammad; Larsen, Lars Allan 分享 收藏
Discovery of a novel mutation F184S (c.551T>C) in GATA4 gene causing congenital heart disease in a consanguineous Saudi family Rasool, Mahmood; Pushparaj, Peter Natesan; Haque, Absarul; Shorbaji, Ayat Mohammed; Mira, Loubna Siraj; Bakhashab, Sherin; Alama, Mohamed Nabil; Farooq, Muhammad; Karim, Sajjad; Larsen, Lars Allan 分享 收藏
Pericardial delta like non-canonical NOTCH ligand 1 (Dlk1) augments fibrosis in the heart through epithelial to mesenchymal transition Jensen, Charlotte Harken; Johnsen, Rikke Helin; Eskildsen, Tilde; Baun, Christina; Ellman, Ditte Gry; Fang, Shu; Bak, Sara Thornby; Hvidsten, Svend; Larsen, Lars Allan; Rosager, Ann Mari; Riber, Lars Peter; Schneider, Mikael; De Mey, Jo; Thomassen, Mads; Burton, Mark; Uchida, Shizuka; Laborda, Jorge; Andersen, Ditte Caroline 分享 收藏
The genetic background of hydrocephalus in a population-based cohort: implication of ciliary involvement Munch, Tina N.; Hedley, Paula L.; Hagen, Christian M.; Baekvad-Hansen, Marie; Geller, Frank; Bybjerg-Grauholm, Jonas; Nordentoft, Merete; Borglum, Anders D.; Werge, Thomas M.; Melbye, Mads; Hougaard, David M.; Larsen, Lars A.; Christensen, Soren T.; Christiansen, Michael 分享 收藏
Integrative analysis of genomic variants reveals new associations of candidate haploinsufficient genes with congenital heart disease (vol 17, e1009679, 2021) 基因组变异的综合分析揭示了候选单倍体不足基因与先天性心脏病的新关联 (第17卷，e1009679，2021) Audain, Enrique; Wilsdon, Anna; Breckpot, Jeroen; Izarzugaza, Jose M. G.; Fitzgerald, Tomas W.; Kahlert, Anne-Karin; Sifrim, Alejandro; Wunnemann, Florian; Perez-Riverol, Yasset; Abdul-Khaliq, Hashim; Bak, Mads; Bassett, Anne S.; Benson, D. Woodrow; Berger, Felix; Daehnert, Ingo; Devriendt, Koenraad; Dittrich, Sven; Daubeney, Piers E. F.; Garg, Vidu; Hackmann, Karl; Hoff, Kirstin; Hofmann, Philipp; Dombrowsky, Gregor; Pickardt, Thomas; Bauer, Ulrike; Keavney, Bernard D.; Klaassen, Sabine; Kramer, Hans-Heiner; Marshall, Christian R.; Milewicz, Dianna M.; Lemaire, Scott; Coselli, Joseph S.; Mitchell, Michael E.; Tomita-Mitchell, Aoy; Prakash, Siddharth K.; Stamm, Karl; Stewart, Alexandre F. R.; Silversides, Candice K.; Siebert, Reiner; Stiller, Brigitte; Rosenfeld, Jill A.; Vater, Inga; Postma, Alex V.; Caliebe, Almuth; Brook, J. David; Andelfinger, Gregor; Hurles, Matthew E.; Thienpont, Bernard; Larsen, Lars Allan; Hitz, Marc-Phillip 分享 收藏
RRP7A links primary microcephaly to dysfunction of ribosome biogenesis, resorption of primary cilia, and neurogenesis Farooq, Muhammad; Lindbaek, Louise; Krogh, Nicolai; Doganli, Canan; Keller, Cecilie; Monnich, Maren; Goncalves, Andre Bras; Sakthivel, Srinivasan; Mang, Yuan; Fatima, Ambrin; Andersen, Vivi Sogaard; Hussain, Muhammad S.; Eiberg, Hans; Hansen, Lars; Kjaer, Klaus Wilbrandt; Gopalakrishnan, Jay; Pedersen, Lotte Bang; Mollgard, Kjeld; Nielsen, Henrik; Baig, Shahid M.; Tommerup, Niels; Christensen, Soren Tvorup; Larsen, Lars Allan 分享 收藏
Model system identification of novel congenital heart disease gene candidates: focus on RPL13 Schroeder, Analyne M.; Allahyari, Massoud; Vogler, Georg; Missinato, Maria A.; Nielsen, Tanja; Yu, Michael S.; Theis, Jeanne L.; Larsen, Lars A.; Goyal, Preeya; Rosenfeld, Jill A.; Nelson, Timothy J.; Olson, Timothy M.; Colas, Alexandre R.; Grossfeld, Paul; Bodmer, Rolf 分享 收藏
Haploinsufficiency of ARHGAP42 is associated with hypertension Fjorder, Amanda S.; Rasmussen, Malene B.; Mehrjouy, Mana M.; Nazaryan-Petersen, Lusine; Hansen, Claus; Bak, Mads; Grarup, Niels; Norremolle, Anne; Larsen, Lars A.; Vestergaard, Henrik; Hansen, Torben; Tommerup, Niels; Bache, Iben 分享 收藏
The E3 ubiquitin ligase SMURF1 regulates cell-fate specification and outflow tract septation during mammalian heart development Koefoed, K.; Skat-Rordam, J.; Andersen, P.; Warzecha, C. B.; Pye, M.; Andersen, T. A.; Ajbro, K. D.; Bendsen, E.; Narimatsu, M.; Vilhardt, F.; Pedersen, L. B.; Wrana, J. L.; Anderson, R. H.; Mollgard, K.; Christensen, S. T.; Larsen, L. A. 分享 收藏
IFT20 modulates ciliary PDGFRα signaling by regulating the stability of Cbl E3 ubiquitin ligases Schmid, Fabian Marc; Schou, Kenneth Bodtker; Vilhelm, Martin Juel; Holm, Maria Schroder; Breslin, Loretta; Farinelli, Pietro; Larsen, Lars Allan; Andersen, Jens Skorstengaard; Pedersen, Lotte Bang; Christensen, Soren Tvorup 分享 收藏
Familial co-occurrence of congenital heart defects follows distinct patterns Ellesoe, Sabrina G.; Workman, Christopher T.; Bouvagnet, Patrice; Loffredo, Christopher A.; McBride, Kim L.; Hinton, Robert B.; van Engelen, Klaartje; Gertsen, Emma C.; Mulder, Barbara J. M.; Postma, Alex V.; Anderson, Robert H.; Hjortdal, Vibeke E.; Brunak, Soren; Larsen, Lars A. 分享 收藏
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TGF-β Signaling Is Associated with Endocytosis at the Pocket Region of the Primary Cilium Clement, Christian Alexandro; Ajbro, Katrine Dalsgaard; Koefoed, Karen; Vestergaard, Maj Linea; Veland, Iben Ronn; de Jesus, Maria Perestrello Ramos Henriques; Pedersen, Lotte Bang; Benmerah, Alexandre; Andersen, Claus Yding; Larsen, Lars Allan; Christensen, Soren Tvorup 分享 收藏
Genetic and environmental risk factors in congenital heart disease functionally converge in protein networks driving heart development Lage, Kasper; Greenway, Steven C.; Rosenfeld, Jill A.; Wakimoto, Hiroko; Gorham, Joshua M.; Segre, Ayellet V.; Roberts, Amy E.; Smoot, Leslie B.; Pu, William T.; Pereira, Alexandre C.; Mesquita, Sonia M.; Tommerup, Niels; Brunak, Soren; Ballif, Blake C.; Shaffer, Lisa G.; Donahoe, Patricia K.; Daly, Mark J.; Seidman, Jonathan G.; Seidman, Christine E.; Larsen, Lars A. 分享 收藏
Dissecting spatio-temporal protein networks driving human heart development and related disorders Lage, Kasper; Mollgard, Kjeld; Greenway, Steven; Wakimoto, Hiroko; Gorham, Joshua M.; Workman, Christopher T.; Bendsen, Eske; Hansen, Niclas T.; Rigina, Olga; Roque, Francisco S.; Wiese, Cornelia; Christoffels, Vincent M.; Roberts, Amy E.; Smoot, Leslie B.; Pu, William T.; Donahoe, Patricia K.; Tommerup, Niels; Brunak, Soren; Seidman, Christine E.; Seidman, Jonathan G.; Larsen, Lars A. 分享 收藏
Haploinsufficiency of TAB2 Causes Congenital Heart Defects in Humans Thienpont, Bernard; Zhang, Litu; Postma, Alex V.; Breckpot, Jeroen; Tranchevent, Leon-Charles; Van Loo, Peter; Mollgard, Kjeld; Tommerup, Niels; Bache, Iben; Tumer, Zeynep; van Engelen, Klaartje; Menten, Bjorn; Mortier, Geert; Waggoner, Darrel; Gewillig, Marc; Moreau, Yves; Devriendt, Koen; Larsen, Lars Allan 分享 收藏
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