European reference network for rare vascular diseases (VASCERN) consensus statement for the screening and management of patients with pathogenic ACTA2 variants von van de Laar, Ingrid M B H, Arbustini, Eloisa, Loeys, Bart, Björck, Erik, Murphy, Lise, Groenink, Maarten, Kempers, Marlies, Timmermans, Janneke, Roos-Hesselink, Jolien, Benke, Kalman, Pepe, Guglielmina, Mulder, Barbara, Szabolcs, Zoltan, Teixidó-Turà, Gisela, Robert, Leema, Emmanuel, Yaso, Evangelista, Arturo, Pini, Alessandro, von Kodolitsch, Yskert, Jondeau, Guillaume, De Backer, Julie

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SYNGAP1 encephalopathy: A distinctive generalized developmental and epileptic encephalopathy von Vlaskamp, Danique R.M, Shaw, Benjamin J, Burgess, Rosemary, Mei, Davide, Montomoli, Martino, Xie, Han, Myers, Candace T, Bennett, Mark F, XiangWei, Wenshu, Williams, Danielle, Maas, Saskia M, Brooks, Alice S, Mancini, Grazia M.S, van de Laar, Ingrid M.B.H, van Hagen, Johanna M, Ware, Tyson L, Webster, Richard I, Malone, Stephen, Berkovic, Samuel F, Kalnins, Renate M, Sicca, Federico, Korenke, G Christoph, van Ravenswaaij-Arts, Conny M.A, Hildebrand, Michael S, Mefford, Heather C, Jiang, Yuwu, Guerrini, Renzo, Scheffer, Ingrid E

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The potential diagnostic yield of whole exome sequencing in pregnancies complicated by fetal ultrasound anomalies von Diderich, Karin E. M., Romijn, Kathleen, Joosten, Marieke, Govaerts, Lutgarde C. P., Polak, Marike, Bruggenwirth, Hennie T., Wilke, Martina, Slegtenhorst, Marjon A., Bever, Yolande, Brooks, Alice S., Mancini, Grazia M. S., Laar, Ingrid M. B. H., Kromosoeto, Joan N. R., Knapen, Maarten F. C. M., Go, Attie T. J. I., Van Opstal, Diane, Hoefsloot, Lies H., Galjaard, Robert‐Jan H., Srebniak, Malgorzata I.

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Cardiovascular malformations caused by NOTCH1 mutations do not keep left: data on 428 probands with left-sided CHD and their families von Kerstjens-Frederikse, Wilhelmina S., van de Laar, Ingrid M.B.H., Vos, Yvonne J., Verhagen, Judith M.A., Berger, Rolf M.F., Lichtenbelt, Klaske D., Klein Wassink-Ruiter, Jolien S., van der Zwaag, Paul A., du Marchie Sarvaas, Gideon J., Bergman, Klasien A., Bilardo, Catia M., Roos-Hesselink, Jolien W., Janssen, Johan H.P., Frohn-Mulder, Ingrid M., van Spaendonck-Zwarts, Karin Y., van Melle, Joost P., Hofstra, Robert M.W., Wessels, M.W.

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Mutations in SMAD3 cause a syndromic form of aortic aneurysms and dissections with early-onset osteoarthritis von van de Laar, Ingrid M B H, Oldenburg, Rogier A, Pals, Gerard, Roos-Hesselink, Jolien W, de Graaf, Bianca M, Verhagen, Judith M A, Hoedemaekers, Yvonne M, Willemsen, Rob, Severijnen, Lies-Anne, Venselaar, Hanka, Vriend, Gert, Pattynama, Peter M, Collée, Margriet, Majoor-Krakauer, Danielle, Poldermans, Don, Frohn-Mulder, Ingrid M E, Micha, Dimitra, Timmermans, Janneke, Hilhorst-Hofstee, Yvonne, Bierma-Zeinstra, Sita M, Willems, Patrick J, Kros, Johan M, Oei, Edwin H G, Oostra, Ben A, Wessels, Marja W, Bertoli-Avella, Aida M

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ADAMTS19‐associated heart valve defects: Novel genetic variants consolidating a recognizable cardiac phenotype von Massadeh, Salam, Alhashem, Amal, Laar, Ingrid M.B.H., Alhabshan, Fahad, Ordonez, Natalia, Alawbathani, Salem, Khan, Suliman, Kabbani, Mohamed S., Chaikhouni, Farah, Sheereen, Atia, Almohammed, Iman, Alghamdi, Bader, Frohn‐Mulder, Ingrid, Ahmad, Salim, Beetz, Christian, Bauer, Peter, Wessels, Marja W., Alaamery, Manal, Bertoli‐Avella, Aida M.

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Mutations in a TGF-β Ligand, TGFB3, Cause Syndromic Aortic Aneurysms and Dissections von Bertoli-Avella, Aida M., MD, PhD, Gillis, Elisabeth, MSc, Morisaki, Hiroko, MD, PhD, Verhagen, Judith M.A., MD, de Graaf, Bianca M., BSc, van de Beek, Gerarda, BSc, Gallo, Elena, PhD, Kruithof, Boudewijn P.T., PhD, Venselaar, Hanka, PhD, Myers, Loretha A., BSc, Laga, Steven, MD, Doyle, Alexander J., MD, PhD, Oswald, Gretchen, MS, CGC, van Cappellen, Gert W.A., PhD, Yamanaka, Itaru, PhD, van der Helm, Robert M., BSc, Beverloo, Berna, PhD, de Klein, Annelies, PhD, Pardo, Luba, MD, PhD, Lammens, Martin, MD, PhD, Evers, Christina, MD, Devriendt, Koenraad, MD, PhD, Dumoulein, Michiel, MD, Timmermans, Janneke, MD, Bruggenwirth, Hennie T., PhD, Verheijen, Frans, PhD, Rodrigus, Inez, MD, Baynam, Gareth, MD, Kempers, Marlies, MD, PhD, Saenen, Johan, MD, PhD, Van Craenenbroeck, Emeline M., MD, PhD, Minatoya, Kenji, MD, PhD, Matsukawa, Ritsu, MD, PhD, Tsukube, Takuro, MD, PhD, Kubo, Noriaki, MD, PhD, Hofstra, Robert, PhD, Goumans, Marie Jose, PhD, Bekkers, Jos A., MD, PhD, Roos-Hesselink, Jolien W., MD, PhD, van de Laar, Ingrid M.B.H., MD, PhD, Dietz, Harry C., MD, Van Laer, Lut, PhD, Morisaki, Takayuki, MD, PhD, Wessels, Marja W., MD, PhD, Loeys, Bart L., MD, PhD

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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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Growth charts for Marfan syndrome in the Netherlands and analysis of genotype–phenotype relationships von Lauffer, Peter, Pals, Gerard, Zwinderman, Aeilko H., Postema, Floor A. M., Baars, Marieke J. H., Dulfer, Eelco, Hilhorst‐Hofstee, Yvonne, Houweling, Arjan C., Kempers, Marlies, Krapels, Ingrid P. C., Laar, Ingrid M. B. H., Loeys, Bart, Spaans, Alexander M. J., Warnink‐Kavelaars, Jessica, Waard, Vivian, Wit, Jan M., Menke, Leonie A.

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Phenotypic spectrum of the SMAD3-related aneurysms–osteoarthritis syndrome von van de Laar, Ingrid M B H, van der Linde, Denise, Oei, Edwin H G, Bos, Pieter K, Bessems, Johannes H, Bierma-Zeinstra, Sita M, van Meer, Belle L, Pals, Gerard, Oldenburg, Rogier A, Bekkers, Jos A, Moelker, Adriaan, de Graaf, Bianca M, Matyas, Gabor, Frohn-Mulder, Ingrid M E, Timmermans, Janneke, Hilhorst-Hofstee, Yvonne, Cobben, Jan M, Bruggenwirth, Hennie T, van Laer, Lut, Loeys, Bart, De Backer, Julie, Coucke, Paul J, Dietz, Harry C, Willems, Patrick J, Oostra, Ben A, De Paepe, Anne, Roos-Hesselink, Jolien W, Bertoli-Avella, Aida M, Wessels, Marja W

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Functional analysis of cell lines derived from SMAD3-related Loeys-Dietz syndrome patients provides insights into genotype-phenotype relation von de Wagenaar, Nathalie P, van den Bersselaar, Lisa M, Odijk, Hanny J H M, Stefens, Sanne J M, Reinhardt, Dieter P, Roos-Hesselink, Jolien W, Kanaar, Roland, Verhagen, Judith M A, Brüggenwirth, Hennie T, van de Laar, Ingrid M B H, van der Pluijm, Ingrid, Essers, Jeroen

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NPHP4 Variants Are Associated With Pleiotropic Heart Malformations von French, Vanessa M, van de Laar, Ingrid M.B.H, Wessels, Marja W, Rohe, Christan, Roos-Hesselink, Jolien W, Wang, Guangliang, Frohn-Mulder, Ingrid M.E, Severijnen, Lies-Anne, de Graaf, Bianca M, Schot, Rachel, Breedveld, Guido, Mientjes, Edwin, van Tienhoven, Marianne, Jadot, Elodie, Jiang, Zhengxin, Verkerk, Annemieke, Swagemakers, Sigrid, Venselaar, Hanka, Rahimi, Zohreh, Najmabadi, Hossein, Meijers-Heijboer, Hanne, de Graaff, Esther, Helbing, Wim A, Willemsen, Rob, Devriendt, Koen, Belmont, John W, Oostra, Ben A, Amack, Jeffrey D, Bertoli-Avella, Aida M

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Candidate Gene Resequencing in a Large Bicuspid Aortic Valve-Associated Thoracic Aortic Aneurysm Cohort: SMAD6 as an Important Contributor von Gillis, Elisabeth, Kumar, Ajay A, Luyckx, Ilse, Preuss, Christoph, Cannaerts, Elyssa, van de Beek, Gerarda, Wieschendorf, Björn, Alaerts, Maaike, Bolar, Nikhita, Vandeweyer, Geert, Meester, Josephina, Wünnemann, Florian, Gould, Russell A, Zhurayev, Rustam, Zerbino, Dmytro, Mohamed, Salah A, Mital, Seema, Mertens, Luc, Björck, Hanna M, Franco-Cereceda, Anders, McCallion, Andrew S, Van Laer, Lut, Verhagen, Judith M A, van de Laar, Ingrid M B H, Wessels, Marja W, Messas, Emmanuel, Goudot, Guillaume, Nemcikova, Michaela, Krebsova, Alice, Kempers, Marlies, Salemink, Simone, Duijnhouwer, Toon, Jeunemaitre, Xavier, Albuisson, Juliette, Eriksson, Per, Andelfinger, Gregor, Dietz, Harry C, Verstraeten, Aline, Loeys, Bart L

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Expert consensus recommendations on the cardiogenetic care for patients with thoracic aortic disease and their first-degree relatives von Verhagen, Judith M.A., Kempers, Marlies, Cozijnsen, Luc, Bouma, Berto J., Duijnhouwer, Anthonie L., Post, Jan G., Hilhorst-Hofstee, Yvonne, Bekkers, Sebastiaan C.A.M., Kerstjens-Frederikse, Wilhelmina S., van Brakel, Thomas J., Lambermon, Eric, Wessels, Marja W., Loeys, Bart L., Roos-Hesselink, Jolien W., van de Laar, Ingrid M.B.H.

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Pregnancy in Women With SMAD3 Mutation von van Hagen, Iris M., MD, van der Linde, Denise, MD, MSc, PhD, van de Laar, Ingrid M.B.H., MD, PhD, Muiño Mosquera, Laura, MD, De Backer, Julie, MD, PhD, Roos-Hesselink, Jolien W., MD, PhD

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Web-accessible application for identifying pathogenic transcripts with RNA-seq: Increased sensitivity in diagnosis of neurodevelopmental disorders von Dekker, Jordy, Schot, Rachel, Bongaerts, Michiel, de Valk, Walter G., van Veghel-Plandsoen, Monique M., Monfils, Kathryn, Douben, Hannie, Elfferich, Peter, Kasteleijn, Esmee, van Unen, Leontine M.A., Geeven, Geert, Saris, Jasper J., van Ierland, Yvette, Verheijen, Frans W., van der Sterre, Marianne L.T., Sadeghi Niaraki, Farah, Smits, Daphne J., Huidekoper, Hidde H., Williams, Monique, Wilke, Martina, Verhoeven, Virginie J.M., Joosten, Marieke, Kievit, Anneke J.A., van de Laar, Ingrid M.B.H., Hoefsloot, Lies H., Hoogeveen-Westerveld, Marianne, Nellist, Mark, Mancini, Grazia M.S., van Ham, Tjakko J.

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Multi-Omics Profiling in Marfan Syndrome: Further Insights into the Molecular Mechanisms Involved in Aortic Disease von Verhagen, Judith M A, Burger, Joyce, Bekkers, Jos A, den Dekker, Alexander T, von der Thüsen, Jan H, Zajec, Marina, Brüggenwirth, Hennie T, van der Sterre, Marianne L T, van den Born, Myrthe, Luider, Theo M, van IJcken, Wilfred F J, Wessels, Marja W, Essers, Jeroen, Roos-Hesselink, Jolien W, van der Pluijm, Ingrid, van de Laar, Ingrid M B H, Brosens, Erwin

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A deep intronic mutation causes RAD50 deficiency through an unusual mechanism of distant exon activation von Bousset, Kristine, Donega, Stefano, Ameziane, Najim, Fleischhammer, Tabea, Ramachandran, Dhanya, Poley-Gil, Miriam, Schindler, Detlev, van de Laar, Ingrid M, Pagani, Franco, Dörk, Thilo

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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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Biallelic Truncating Mutations in ALPK3 Cause Severe Pediatric Cardiomyopathy von Almomani, Rowida, PhD, Verhagen, Judith M.A., MD, Herkert, Johanna C., MD, Brosens, Erwin, PhD, van Spaendonck-Zwarts, Karin Y., MD, PhD, Asimaki, Angeliki, PhD, van der Zwaag, Paul A., MD, PhD, Frohn-Mulder, Ingrid M.E., MD, Bertoli-Avella, Aida M., MD, PhD, Boven, Ludolf G., BSc, van Slegtenhorst, Marjon A., PhD, van der Smagt, Jasper J., MD, van IJcken, Wilfred F.J., PhD, Timmer, Bert, MD, PhD, van Stuijvenberg, Margriet, MD, PhD, Verdijk, Rob M., MD, PhD, Saffitz, Jeffrey E., MD, PhD, du Plessis, Frederik A., MD, Michels, Michelle, MD, PhD, Hofstra, Robert M.W., PhD, Sinke, Richard J., PhD, van Tintelen, J. Peter, MD, PhD, Wessels, Marja W., MD, PhD, Jongbloed, Jan D.H., PhD, van de Laar, Ingrid M.B.H., MD, PhD

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