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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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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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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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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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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Mutations in SMAD3 cause a syndromic form of aortic aneurysms and dissections with early-onset osteoarthritis von Bertoli-Avella, Aida M, 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

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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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Psychological well‐being in patients with aneurysms‐osteoarthritis syndrome von Bons, Lidia R., Hoven, Allard T., Damirchi, Ayda E., Linde, Denise, Dekker, Silvy, Kauling, Robert M., Laar, Ingrid M. B. H., Utens, Elisabeth M. W. J., Budde, Ricardo P. J., Roos‐Hesselink, Jolien W.

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Lack of evidence for a causal role of CALR3 in monogenic cardiomyopathy von Verhagen, Judith M A, Veldman, Job H, van der Zwaag, Paul A, von der Thüsen, Jan H, Brosens, Erwin, Christiaans, Imke, Dooijes, Dennis, Helderman-van den Enden, Apollonia T J M, Lekanne Deprez, Ronald H, Michels, Michelle, van Mil, Anneke M, Oldenburg, Rogier A, van der Smagt, Jasper J, van den Wijngaard, Arthur, Wessels, Marja W, Hofstra, Robert M W, van Slegtenhorst, Marjon A, Jongbloed, Jan D H, van de Laar, Ingrid M B H

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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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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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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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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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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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Functional analysis of novel TBX5 T-box mutations associated with Holt–Oram syndrome von Boogerd, Cornelis J.J., Dooijes, Dennis, Ilgun, Aho, Mathijssen, Inge B., Hordijk, Roel, van de Laar, Ingrid M.B.H., Rump, Patrick, Veenstra-Knol, Hermine E., Moorman, Antoon F.M., Barnett, Phil, Postma, Alex V.

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Expanding the genetic and phenotypic spectrum of ACTA2-related vasculopathies in a Dutch cohort von van den Bersselaar, Lisa M., Verhagen, Judith M.A., Bekkers, Jos A., Kempers, Marlies, Houweling, Arjan C., Baars, Marieke, Overwater, Eline, Hilhorst-Hofstee, Yvonne, Barge-Schaapveld, Daniela Q.C.M., Rompen, Eline, Krapels, Ingrid P.C., Dulfer, Eelco, Wessels, Marja W., Loeys, Bart L., Verhagen, Hence J.M., Maugeri, Alessandra, Roos-Hesselink, Jolien W., Brüggenwirth, Hennie T., van de Laar, Ingrid M.B.H.

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Correction: Broadening the phenotypic spectrum of pathogenic LARP7 variants: two cases with intellectual disability, variable growth retardation and distinct facial features von Hollink, Iris H I M, Alfadhel, Majid, Al-Wakeel, Anwar S, Ababneh, Farough, Pfundt, Rolph, de Man, Stella A, Abou Jamra, Rami, Rolfs, Arndt, Bertoli-Avella, Aida M, van de Laar, Ingrid M B H

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Prenatal diagnostic testing of the Noonan syndrome genes in fetuses with abnormal ultrasound findings von Croonen, Ellen A, Nillesen, Willy M, Stuurman, Kyra E, Oudesluijs, Gretel, van de Laar, Ingrid M B M, Martens, Liesbeth, Ockeloen, Charlotte, Mathijssen, Inge B, Schepens, Marga, Ruiterkamp-Versteeg, Martina, Scheffer, Hans, Faas, Brigitte H W, van der Burgt, Ineke, Yntema, Helger G

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Expanding the genetic and phenotypic spectrum of ACTA2-related vasculopathies in a Dutch cohort von van den Bersselaar, Lisa M., Verhagen, Judith M.A., Bekkers, Jos A., Kempers, Marlies, Houweling, Arjan C., Baars, Marieke, Overwater, Eline, Hilhorst-Hofstee, Yvonne, Barge-Schaapveld, Daniela Q.C.M., Rompen, Eline, Krapels, Ingrid P.C., Dulfer, Eelco, Wessels, Marja W., Loeys, Bart L., Verhagen, Hence J.M., Maugeri, Alessandra, Roos-Hesselink, Jolien W., Brüggenwirth, Hennie T., 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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