Not logged in Mutations in ATP6V1E1 or ATP6V1A Cause Autosomal-Recessive Cutis Laxa (vol 100, pg 216, 2017) Van Damme, Tim; Gardeitchik, Thatjana; Mohamed, Miski; Guerrero-Castillo, Sergio; Freisinger, Peter; Guillemyn, Brecht; Kariminejad, Ariana; Dalloyaux, Daisy; van Kraaij, Sanne; Lefeber, Dirk J.; Syx, Delfien; Steyaert, Wouter; De Rycke, Riet; Hoischen, Alexander; Kamsteeg, Erik-Jan; Wong, Sunnie Y.; van Scherpenzeel, Monique; Jamali, Payman; Brandt, Ulrich; Nijtmans, Leo; Korenke, G. Christoph; Chung, Brian H. Y.; Mak, Christopher C. Y.; Hausser, Ingrid; Kornak, Uwe; Fischer-Zirnsak, Bjorn; Strom, Tim M.; Meitinger, Thomas; Alanay, Yasemin; Utine, Gulen E.; Leung, Kai Ching Peter; Ghaderi-Sohi, Siavash; Coucke, Paul; Symoens, Sofie; De Paepe, Anne; Thiel, Christian; Haack, Tobias B.; Malfait, Fransiska; Morava, Eva; Callewaert, Bert; Wevers, Ron A. Share Save
A clinical scoring system for congenital contractural arachnodactyly Meerschaut, Ilse; De Coninck, Shana; Steyaert, Wouter; Barnicoat, Angela; Bayat, Allan; Benedicenti, Francesco; Berland, Siren; Blair, Edward M.; Breckpot, Jeroen; De Burca, Anna; Destree, Anne; Garcia-Minaur, Sixto; Green, Andrew J.; Hanna, Bernadette C.; Keymolen, Kathelijn; Koopmans, Marije; Lederer, Damien; Lees, Melissa; Longman, Cheryl; Lynch, Sally Ann; Male, Alison M.; McKenzie, Fiona; Migeotte, Isabelle; Mihci, Ercan; Nur, Banu; Petit, Florence; Piard, Juliette; Plasschaert, Frank S.; Rauch, Anita; Ribai, Pascale; Pacheco, Iratxe Salcedo; Stanzial, Franco; Stolte-Dijkstra, Irene; Valenzuela, Irene; Varghese, Vinod; Vasudevan, Pradeep C.; Wakeling, Emma; Wallgren-Pettersson, Carina; Coucke, Paul; De Paepe, Anne; De Wolf, Daniel; Symoens, Sofie; Callewaert, Bert Share Save
Arterial tortuosity syndrome: 40 new families and literature review (vol 20, pg 1236, 2017) Beyens, Aude; Albuisson, Juliette; Boel, Annekatrien; Al-Essa, Mazen; Al-Manea, Waheed; Bonnet, Damien; Bostan, Ozlem; Boute, Odile; Busa, Tiffany; Canham, Nathalie; Cil, Ergun; Coucke, Paul J.; Cousin, Margot A.; Dasouki, Majed; De Backer, Julie; De Paepe, Anne; De Schepper, Sofie; De Silva, Deepthi; Devriendt, Koenraad; De Wandele, Inge; Deyle, David R.; Dietz, Harry; Dupuis-Girod, Sophie; Fontenot, Eudice; Fischer-Zirnsak, Bjoern; Gezdirici, Alper; Ghoumid, Jamal; Giuliano, Fabienne; Baena, Neus; Haider, Mohammed Z.; Hardin, Joshua S.; Jeunemaitre, Xavier; Klee, Eric W.; Kornak, Uwe; Landecho, Manuel F.; Legrand, Anne; Loeys, Bart; Lyonnet, Stanislas; Michael, Helen; Moceri, Pamela; Mohammed, Shehla; Muino-Mosquera, Laura; Nampoothiri, Sheela; Pichler, Karin; Prescott, Katrina; Rajeb, Anna; Ramos-Arroyo, Maria; Rossi, Massimiliano; Salih, Mustafa; Seidahmed, Mohammed Z.; Schaefer, Elise; Steichen-Gersdorf, Elisabeth; Temel, Sehime; Uysal, Fahrettin; Vanhomwegen, Marine; Van Laer, Lut; Van Maldergem, Lionel; Warner, David; Willaert, Andy; Collins, Tom R., II; Taylor, Andrea; Davis, Elaine C.; Zarate, Yuri; Callewaert, Bert Share Save
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Pathogenic variants in the ABCC6 gene are associated with an increased risk for ischemic stroke De Vilder, Eva Y. G.; Cardoen, Stefanie; Hosen, Mohammad J.; Le Saux, Olivier; De Zaeytijd, Julie; Leroy, Bart P.; De Reuck, Jacques; Coucke, Paul J.; De Paepe, Anne; Hemelsoet, Dimitri; Vanakker, Olivier M. Share Save
BATCH-GE: Batch analysis of Next-Generation Sequencing data for genome editing assessment (vol 6, 30330, 2016) Boel, Annekatrien; Steyaert, Wouter; De Rocker, Nina; Menten, Bjorn; Callewaert, Bert; De Paepe, Anne; Coucke, Paul; Willaert, Andy Share Save
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Zebrafish type I collagen mutants faithfully recapitulate human type I collagenopathies Gistelinck, Charlotte; Kwon, Ronald Y.; Malfait, Fransiska; Symoens, Sofie; Harris, Matthew P.; Henke, Katrin; Hawkins, Michael B.; Fisher, Shannon; Sips, Patrick; Guillemyn, Brecht; Bek, Jan Willem; Vermassen, Petra; De Saffel, Hanna; Witten, Paul Eckhard; Weis, MaryAnn; De Paepe, Anne; Eyre, David R.; Willaert, Andy; Coucke, Paul J. Share Save
Tailoring the American College of Medical Genetics and Genomics and the Association for Molecular Pathology Guidelines for the Interpretation of Sequenced Variants in the FBN1 Gene for Marfan Syndrome Proposal for a Disease- and Gene-Specific Guideline Muino-Mosquera, Laura; Steijns, Felke; Audenaert, Tjorven; Meerschaut, Ilse; De Paepe, Anne; Steyaert, Wouter; Symoens, Sofie; Coucke, Paul; Callewaert, Bert; Renard, Marjolijn; De Backer, Julie Share Save
Congenital hypogonadotropic hypogonadism and constitutional delay of growth and puberty have distinct genetic architectures Cassatella, Daniele; Howard, Sasha R.; Acierno, James S.; Xu, Cheng; Papadakis, Georgios E.; Santoni, Federico A.; Dwyer, Andrew A.; Santini, Sara; Sykiotis, Gerasimos P.; Chambion, Caroline; Meylan, Jenny; Marino, Laura; Favre, Lucie; Li, Jiankang; Liu, Xuanzhu; Zhang, Jianguo; Bouloux, Pierre-Marc; De Geyter, Christian; De Paepe, Anne; Dhillo, Waljit S.; Ferrara, Jean-Marc; Hauschild, Michael; Lang-Muritano, Mariarosaria; Lemke, Johannes R.; Fluck, Christa; Nemeth, Attila; Phan-Hug, Franziska; Pignatelli, Duarte; Popovic, Vera; Pekic, Sandra; Quinton, Richard; Szinnai, Gabor; I'Allemand, Dagmar; Konrad, Daniel; Sharif, Saba; Iyidir, Ozlem Turhan; Stevenson, Brian J.; Yang, Huanming; Dunkel, Leo; Pitteloud, Nelly Share Save
Osteogenesis imperfecta Marini, Joan C.; Forlino, Antonella; Bachinger, Hans Peter; Bishop, Nick J.; Byers, Peter H.; De Paepe, Anne; Fassier, Francois; Fratzl-Zelman, Nadja; Kozloff, Kenneth M.; Krakow, Deborah; Montpetit, Kathleen; Semler, Oliver Share Save
Mutations in ATP6V1E1 or ATP6V1A Cause Autosomal-Recessive Cutis Laxa Van Damme, Tim; Gardeitchik, Thatjana; Mohamed, Miski; Guerrero-Castillo, Sergio; Freisinger, Peter; Guillemyn, Brecht; Kariminejad, Ariana; Dalloyaux, Daisy; Van Kraaij, Sanne; Lefeber, Dirk J.; Syx, Delfien; Steyaert, Wouter; De Rycke, Riet; Hoischen, Alexander; Kamsteeg, Erik-Jan; Wong, Sunnie Y.; van Scherpenzeel, Monique; Jamali, Payman; Brandt, Ulrich; Nijtmans, Leo; Korenke, G. Christoph; Chung, Brian H. Y.; Mak, Christopher C. Y.; Hausser, Ingrid; Kornak, Uwe; Fischer-Zirnsak, Bjorn; Strom, Tim M.; Meitinger, Thomas; Alanay, Yasemin; Utine, Gulen E.; Leung, Peter K. C.; Ghaderi-Sohi, Siavash; Coucke, Paul; Symoens, Sofie; De Paepe, Anne; Thiel, Christian; Haack, Tobias B.; Malfait, Fransiska; Morava, Eva; Callewaert, Bert; Wevers, Ron A. Share Save
Expanding the clinical and mutational spectrum of the Ehlers-Danlos syndrome, dermatosparaxis type Van Damme, Tim; Colige, Alain; Syx, Delfien; Giunta, Cecilia; Lindert, Uschi; Rohrbach, Marianne; Aryani, Omid; Alanay, Yasemin; Simsek-Kiper, Pelin Ozlem; Kroes, Hester Y.; Devriendt, Koen; Thiry, Marc; Symoens, Sofie; De Paepe, Anne; Malfait, Fransiska Share Save
Loss of Type I Collagen Telopeptide Lysyl Hydroxylation Causes Musculoskeletal Abnormalities in a Zebrafish Model of Bruck Syndrome Gistelinck, Charlotte; Witten, Paul Eckhard; Huysseune, Ann; Symoens, Sofie; Malfait, Fransiska; Larionova, Daria; Simoens, Pascal; Dierick, Manuel; Van Hoorebeke, Luc; De Paepe, Anne; Kwon, Ronald Y.; Weis, MaryAnn; Eyre, David R.; Willaert, Andy; Coucke, Paul J. Share Save
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Zebrafish Collagen Type I: Molecular and Biochemical Characterization of the Major Structural Protein in Bone and Skin Gistelinck, C.; Gioia, R.; Gagliardi, A.; Tonelli, F.; Marchese, L.; Bianchi, L.; Landi, C.; Bini, L.; Huysseune, A.; Witten, P. E.; Staes, A.; Gevaert, K.; De Rocker, N.; Menten, B.; Malfait, F.; Leikin, S.; Carra, S.; Tenni, R.; Rossi, A.; De Paepe, A.; Coucke, P.; Willaert, A.; Forlino, A. Share Save
Genetic Defects in TAPT1 Disrupt Ciliogenesis and Cause a Complex Lethal Osteochondrodysplasia Symoens, Sofie; Barnes, Aileen M.; Gistelinck, Charlotte; Malfait, Fransiska; Guillemyn, Brecht; Steyaert, Wouter; Syx, Delfien; D'hondt, Sanne; Biervliet, Martine; De Backer, Julie; Witten, Eckhard P.; Leikin, Sergey; Makareeva, Elena; Gillessen-Kaesbach, Gabriele; Huysseune, Ann; Vleminckx, Kris; Willaert, Andy; De Paepe, Anne; Marini, Joan C.; Coucke, Paul J. Share Save
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