Expanding the genetic and phenotypic spectrum of popliteal pterygium disorders von Leslie, Elizabeth J., O'Sullivan, James, Cunningham, Michael L., Singh, Ankur, Goudy, Steven L., Ababneh, Faroug, Alsubaie, Lamia, Ch'ng, Gaik-Siew, van der Laar, Ingrid M. B. H., M. Hoogeboom, A. Jeannette, Dunnwald, Martine, Kapoor, Seema, Jiramongkolchai, Pawina, Standley, Jennifer, Manak, J. Robert, Murray, Jeffrey C., Dixon, Michael J.

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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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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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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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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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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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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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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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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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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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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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Linking the heart and the brain: Neurodevelopmental disorders in patients with catecholaminergic polymorphic ventricular tachycardia von Lieve, Krystien V.V., Verhagen, Judith M.A., Wei, Jinhong, Bos, J. Martijn, van der Werf, Christian, Rosés i Noguer, Ferran, Mancini, Grazia M.S., Guo, Wenting, Wang, Ruiwu, van den Heuvel, Freek, Frohn-Mulder, Ingrid M.E., Shimizu, Wataru, Nogami, Akihiko, Horigome, Hitoshi, Roberts, Jason D., Leenhardt, Antoine, Crijns, Harry J.G., Blank, Andreas C., Aiba, Takeshi, Wiesfeld, Ans C.P., Blom, Nico A., Sumitomo, Naokata, Till, Jan, Ackerman, Michael J., Chen, S.R. Wayne, van de Laar, Ingrid M.B.H., Wilde, Arthur A.M.

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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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Aneurysm-osteoarthritis syndrome with visceral and iliac artery aneurysms von van der Linde, Denise, MSc, Verhagen, Hence J.M., MD, PhD, Moelker, Adriaan, MD, PhD, van de Laar, Ingrid M.B.H., MD, PhD, Van Herzeele, Isabelle, MD, PhD, De Backer, Julie, MD, PhD, Dietz, Harry C., MD, PhD, Roos-Hesselink, Jolien W., MD, PhD

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Progression Rate and Early Surgical Experience in the New Aggressive Aneurysms-Osteoarthritis Syndrome von van der Linde, Denise, MSc, Bekkers, Jos A., MD, Mattace-Raso, Francesco U.S., PhD, van de Laar, Ingrid M.B.H., PhD, Moelker, Adriaan, PhD, van den Bosch, Annemien E., PhD, van Dalen, Bas M., PhD, Timmermans, Janneke, MD, Bertoli-Avella, Aida M., PhD, Wessels, Marja W., PhD, Bogers, Ad J.J.C., PhD, Roos-Hesselink, Jolien W., PhD

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Genetic Evaluation of A Nation-Wide Dutch Pediatric DCM Cohort: The Use of Genetic Testing in Risk Stratification von van der Meulen, Marijke H., Herkert, Johanna C., den Boer, Susanna L., du Marchie Sarvaas, Gideon J., Blom, Nico A., ten Harkel, Arend D.J., Breur, Hans M.P.J., Rammeloo, Lukas A.J., Tanke, Ronald B., Marcelis, Carlo, van de Laar, Ingrid M.B.H., Verhagen, Judith M.A., Lekanne dit Deprez, Ronald H., Barge-Schaapveld, Daniela Q.C.M., Baas, Annette F., Sammani, Arjan, Christiaans, Imke, van Tintelen, J. Peter, Dalinghaus, Michiel

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Homozygous Truncating Variant in PKP2 Causes Hypoplastic Left Heart Syndrome von Verhagen, Judith M A, van den Born, Myrthe, Kurul, Serife, Asimaki, Angeliki, van de Laar, Ingrid M B H, Frohn-Mulder, Ingrid M E, Kammeraad, Janneke A E, Yap, Sing C, Bartelings, Margot M, van Slegtenhorst, Marjon A, von der Thüsen, Jan H, Wessels, Marja W

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Biallelic Variants in ASNA1 , Encoding a Cytosolic Targeting Factor of Tail-Anchored Proteins, Cause Rapidly Progressive Pediatric Cardiomyopathy von Verhagen, Judith M A, van den Born, Myrthe, van der Linde, Herma C, G J Nikkels, Peter, Verdijk, Rob M, Kivlen, Maryann H, van Unen, Leontine M A, Baas, Annette F, Ter Heide, Henriette, van Osch-Gevers, Lennie, Hoogeveen-Westerveld, Marianne, Herkert, Johanna C, Bertoli-Avella, Aida M, van Slegtenhorst, Marjon A, Wessels, Marja W, Verheijen, Frans W, Hassel, David, Hofstra, Robert M W, Hegde, Ramanujan S, van Hasselt, Peter M, van Ham, Tjakko J, van de Laar, Ingrid M B H

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Abnormal Aortic Wall Properties in Women with Turner Syndrome von Bons, Lidia R., Van Den Hoven, Allard T., Malik, Maira, Van Den Bosch, Annemien E., McGhie, Jacky S., Duijnhouwer, Anthonie L., Siebelink, Hans-Marc J., Hirsch, Alexander, Devos, Daniel H., Rietzschel, Ernst, von der Thüsen, Jan H., van de Laar, Ingrid M.B.H., Verhagen, Judith M.A., van der Pluijm, Ingrid, Budde, Ricardo P.J., Roos-Hesselink, Jolien W.

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Aortic Dimensions and Clinical Outcome in Patients With SMAD3 Mutations von van den Hoven, A T, Bons, Lidia R, Baart, Sara J, Moelker, Adriaan, van de Laar, Ingrid M B H, van den Bosch, Annemien E, Bekkers, Jos A, Verhagen, Hence J M, van der Linde, Denise, Roos-Hesselink, Jolien W

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