Differences in manifestations of Marfan syndrome, Ehlers-Danlos syndrome, and Loeys-Dietz syndrome von Meester, Josephina A. N., Verstraeten, Aline, Schepers, Dorien, Alaerts, Maaike, Van Laer, Lut, Loeys, Bart L.

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Intra-mitochondrial Methylation Deficiency Due to Mutations in SLC25A26 von Kishita, Yoshihito, Pajak, Aleksandra, Bolar, Nikhita Ajit, Marobbio, Carlo M.T., Maffezzini, Camilla, Miniero, Daniela V., Monné, Magnus, Kohda, Masakazu, Stranneheim, Henrik, Murayama, Kei, Naess, Karin, Lesko, Nicole, Bruhn, Helene, Mourier, Arnaud, Wibom, Rolf, Nennesmo, Inger, Jespers, Ann, Govaert, Paul, Ohtake, Akira, Van Laer, Lut, Loeys, Bart L., Freyer, Christoph, Palmieri, Ferdinando, Wredenberg, Anna, Okazaki, Yasushi, Wedell, Anna

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Mutation of the iron-sulfur cluster assembly gene IBA57 causes severe myopathy and encephalopathy von Ajit Bolar, Nikhita, Vanlander, Arnaud Vincent, Wilbrecht, Claudia, Van der Aa, Nathalie, Smet, Joél, De Paepe, Boel, Vandeweyer, Geert, Kooy, Frank, Eyskens, François, De Latter, Elien, Delanghe, Gwenda, Govaert, Paul, Leroy, Jules Gerard, Loeys, Bart, Lill, Roland, Van Laer, Lut, Van Coster, Rudy

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Mutations in KIF11 Cause Autosomal-Dominant Microcephaly Variably Associated with Congenital Lymphedema and Chorioretinopathy von Ostergaard, Pia, Simpson, Michael A., Mendola, Antonella, Vasudevan, Pradeep, Connell, Fiona C., van Impel, Andreas, Moore, Anthony T., Loeys, Bart L., Ghalamkarpour, Arash, Onoufriadis, Alexandros, Martinez-Corral, Ines, Devery, Sophie, Leroy, Jules G., van Laer, Lut, Singer, Amihood, Bialer, Martin G., McEntagart, Meriel, Quarrell, Oliver, Brice, Glen, Trembath, Richard C., Schulte-Merker, Stefan, Makinen, Taija, Vikkula, Miikka, Mortimer, Peter S., Mansour, Sahar, Jeffery, Steve

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Aggressive Cardiovascular Phenotype of Aneurysms-Osteoarthritis Syndrome Caused by Pathogenic SMAD3 Variants von van der Linde, Denise, MSc, van de Laar, Ingrid M.B.H., MD, Bertoli-Avella, Aida M., MD, PhD, Oldenburg, Rogier A., MD, PhD, Bekkers, Jos A., MD, Mattace-Raso, Francesco U.S., MD, PhD, van den Meiracker, Anton H., MD, PhD, Moelker, Adriaan, MD, PhD, van Kooten, Fop, MD, PhD, Frohn-Mulder, Ingrid M.E., MD, Timmermans, Janneke, MD, Moltzer, Els, PhD, Cobben, Jan M., MD, PhD, van Laer, Lut, PhD, Loeys, Bart, MD, PhD, De Backer, Julie, MD, PhD, Coucke, Paul J., PhD, De Paepe, Anne, MD, PhD, Hilhorst-Hofstee, Yvonne, MD, Wessels, Marja W., MD, PhD, Roos-Hesselink, Jolien W., MD, PhD

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Hearing Disability Measured by the Speech, Spatial, and Qualities of Hearing Scale in Clinically Normal-Hearing and Hearing-Impaired Middle-Aged Persons, and Disability Screening b... von Demeester, Kelly, Topsakal, Vedat, Hendrickx, Jan-Jaap, Fransen, Erik, van Laer, Lut, Van Camp, Guy, Van de Heyning, Paul, van Wieringen, Astrid

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Heterozygous Loss-of-Function Mutations in DLL4 Cause Adams-Oliver Syndrome von Meester, Josephina A.N., Southgate, Laura, Stittrich, Anna-Barbara, Venselaar, Hanka, Beekmans, Sander J.A., den Hollander, Nicolette, Bijlsma, Emilia K., Helderman-van den Enden, Appolonia, Verheij, Joke B.G.M., Glusman, Gustavo, Roach, Jared C., Lehman, Anna, Patel, Millan S., de Vries, Bert B.A., Ruivenkamp, Claudia, Itin, Peter, Prescott, Katrina, Clarke, Sheila, Trembath, Richard, Zenker, Martin, Sukalo, Maja, Van Laer, Lut, Loeys, Bart, Wuyts, Wim

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Marfan Syndrome and Related Disorders: 25 Years of Gene Discovery von Verstraeten, Aline, Alaerts, Maaike, Van Laer, Lut, Loeys, Bart

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Vitamin K does not prevent soft tissue mineralization in a mouse model of pseudoxanthoma elasticum von Brampton, Christopher, Yamaguchi, Yukiko, Vanakker, Olivier, Van Laer, Lut, Chen, Li-Hsieh, Thakore, Manoj, De Paepe, Anne, Pomozi, Viola, Szabó, Pál T., Martin, Ludovic, Váradi, András, Le Saux, Olivier

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Clinical Validity of Genes for Heritable Thoracic Aortic Aneurysm and Dissection von Renard, Marjolijn, Francis, Catherine, Ghosh, Rajarshi, Scott, Alan F., Witmer, P. Dane, Adès, Lesley C., Andelfinger, Gregor U., Arnaud, Pauline, Boileau, Catherine, Callewaert, Bert L., Guo, Dongchuan, Hanna, Nadine, Lindsay, Mark E., Morisaki, Hiroko, Morisaki, Takayuki, Pachter, Nicholas, Robert, Leema, Van Laer, Lut, Dietz, Harry C., Loeys, Bart L., Milewicz, Dianna M., De Backer, Julie

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A mutation update on the LDS‐associated genes TGFB2/3 and SMAD2/3 von Schepers, Dorien, Tortora, Giada, Morisaki, Hiroko, MacCarrick, Gretchen, Lindsay, Mark, Liang, David, Mehta, Sarju G., Hague, Jennifer, Verhagen, Judith, de Laar, Ingrid, Wessels, Marja, Detisch, Yvonne, Haelst, Mieke, Baas, Annette, Lichtenbelt, Klaske, Braun, Kees, der Linde, Denise, Roos‐Hesselink, Jolien, McGillivray, George, Meester, Josephina, Maystadt, Isabelle, Coucke, Paul, El‐Khoury, Elie, Parkash, Sandhya, Diness, Birgitte, Risom, Lotte, Scurr, Ingrid, Hilhorst‐Hofstee, Yvonne, Morisaki, Takayuki, Richer, Julie, Désir, Julie, Kempers, Marlies, Rideout, Andrea L., Horne, Gabrielle, Bennett, Chris, Rahikkala, Elisa, Vandeweyer, Geert, Alaerts, Maaike, Verstraeten, Aline, Dietz, Hal, Laer, Lut, Loeys, Bart

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ROBO4 variants predispose individuals to bicuspid aortic valve and thoracic aortic aneurysm von Gould, Russell A., Aziz, Hamza, Woods, Courtney E., Seman-Senderos, Manuel Alejandro, Sparks, Elizabeth, Preuss, Christoph, Wünnemann, Florian, Bedja, Djahida, Moats, Cassandra R., McClymont, Sarah A., Rose, Rebecca, Sobreira, Nara, Ling, Hua, MacCarrick, Gretchen, Kumar, Ajay Anand, Luyckx, Ilse, Cannaerts, Elyssa, Verstraeten, Aline, Björk, Hanna M., Lehsau, Ann-Cathrin, Jaskula-Ranga, Vinod, Lauridsen, Henrik, Shah, Asad A., Bennett, Christopher L., Ellinor, Patrick T., Lin, Honghuang, Isselbacher, Eric M., Lino Cardenas, Christian Lacks, Butcher, Jonathan T., Hughes, G. Chad, Lindsay, Mark E., Mertens, Luc, Franco-Cereceda, Anders, Verhagen, Judith M. A., Wessels, Marja, Mohamed, Salah A., Eriksson, Per, Mital, Seema, Van Laer, Lut, Loeys, Bart L., Andelfinger, Gregor, McCallion, Andrew S., Dietz, Harry C.

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Inborn errors in RNA polymerase III underlie severe varicella zoster virus infections von Ogunjimi, Benson, Zhang, Shen-Ying, Sørensen, Katrine B, Skipper, Kristian A, Carter-Timofte, Madalina, Kerner, Gaspard, Luecke, Stefanie, Prabakaran, Thaneas, Cai, Yujia, Meester, Josephina, Bartholomeus, Esther, Bolar, Nikhita Ajit, Vandeweyer, Geert, Claes, Charlotte, Sillis, Yasmine, Lorenzo, Lazaro, Fiorenza, Raffaele A, Boucherit, Soraya, Dielman, Charlotte, Heynderickx, Steven, Elias, George, Kurotova, Andrea, Auwera, Ann Vander, Verstraete, Lieve, Lagae, Lieven, Verhelst, Helene, Jansen, Anna, Ramet, Jose, Suls, Arvid, Smits, Evelien, Ceulemans, Berten, Van Laer, Lut, Plat Wilson, Genevieve, Kreth, Jonas, Picard, Capucine, Von Bernuth, Horst, Fluss, Joël, Chabrier, Stephane, Abel, Laurent, Mortier, Geert, Fribourg, Sebastien, Mikkelsen, Jacob Giehm, Casanova, Jean-Laurent, Paludan, Søren R, Mogensen, Trine H

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Heterozygous Loss-of-Function SEC61A1 Mutations Cause Autosomal-Dominant Tubulo-Interstitial and Glomerulocystic Kidney Disease with Anemia von Bolar, Nikhita Ajit, Golzio, Christelle, Živná, Martina, Hayot, Gaëlle, Van Hemelrijk, Christine, Schepers, Dorien, Vandeweyer, Geert, Hoischen, Alexander, Huyghe, Jeroen R., Raes, Ann, Matthys, Erve, Sys, Emiel, Azou, Myriam, Gubler, Marie-Claire, Praet, Marleen, Van Camp, Guy, McFadden, Kelsey, Pediaditakis, Igor, Přistoupilová, Anna, Hodaňová, Kateřina, Vyleťal, Petr, Hartmannová, Hana, Stránecký, Viktor, Hůlková, Helena, Barešová, Veronika, Jedličková, Ivana, Sovová, Jana, Hnízda, Aleš, Kidd, Kendrah, Bleyer, Anthony J., Spong, Richard S., Vande Walle, Johan, Mortier, Geert, Brunner, Han, Van Laer, Lut, Kmoch, Stanislav, Katsanis, Nicholas, Loeys, Bart L.

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varAmpliCNV: analyzing variance of amplicons to detect CNVs in targeted NGS data von Kumar, Ajay Anand, Loeys, Bart, Van De Beek, Gerarda, Peeters, Nils, Wuyts, Wim, Van Laer, Lut, Vandeweyer, Geert, Alaerts, Maaike

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Loss-of-function mutations in TGFB2 cause a syndromic presentation of thoracic aortic aneurysm von Lindsay, Mark E, Schepers, Dorien, Bolar, Nikhita Ajit, Doyle, Jefferson J, Gallo, Elena, Fert-Bober, Justyna, Kempers, Marlies J E, Fishman, Elliot K, Chen, Yichun, Myers, Loretha, Bjeda, Djahita, Oswald, Gretchen, Elias, Abdallah F, Levy, Howard P, Anderlid, Britt-Marie, Yang, Margaret H, Bongers, Ernie M H F, Timmermans, Janneke, Braverman, Alan C, Canham, Natalie, Mortier, Geert R, Brunner, Han G, Byers, Peter H, Van Eyk, Jennifer, Van Laer, Lut, Dietz, Harry C, Loeys, Bart L

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Performant Mutation Identification Using Targeted Next-Generation Sequencing of 14 Thoracic Aortic Aneurysm Genes von Proost, Dorien, Vandeweyer, Geert, Meester, Josephina A.N., Salemink, Simone, Kempers, Marlies, Ingram, Christie, Peeters, Nils, Saenen, Johan, Vrints, Christiaan, Lacro, Ronald V., Roden, Dan, Wuyts, Wim, Dietz, Harry C., Mortier, Geert, Loeys, Bart L., Van Laer, Lut

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Genetic Studies on Noise-Induced Hearing Loss: A Review von Konings, Annelies, Laer, Lut Van, Camp, Guy Van

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Aortic aneurysm/dissection and osteogenesis imperfecta: Four new families and review of the literature von Balasubramanian, Meena, Verschueren, Aline, Kleevens, Simon, Luyckx, Ilse, Perik, Melanie, Schirwani, Schaida, Mortier, Geert, Morisaki, Hiroko, Rodrigus, Inez, Van Laer, Lut, Verstraeten, Aline, Loeys, Bart

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The influence of genetic variation in oxidative stress genes on human noise susceptibility von Carlsson, Per-Inge, Laer, Lut Van, Borg, Erik, Bondeson, Marie-Louise, Thys, Melissa, Fransen, Erik, Camp, Guy Van

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