HCN4 Mutations in Multiple Families With Bradycardia and Left Ventricular Noncompaction Cardiomyopathy von Milano, Annalisa, MSc, Vermeer, Alexa M.C., MD, Lodder, Elisabeth M., PhD, Barc, Julien, PhD, Verkerk, Arie O., PhD, Postma, Alex V., PhD, van der Bilt, Ivo A.C., MD, Baars, Marieke J.H., MD, PhD, van Haelst, Paul L., MD, PhD, Caliskan, Kadir, MD, Hoedemaekers, Yvonne M., MD, PhD, Le Scouarnec, Solena, PhD, Redon, Richard, PhD, Pinto, Yigal M., MD, PhD, Christiaans, Imke, MD, PhD, Wilde, Arthur A., MD, PhD, Bezzina, Connie R., PhD

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Mutations in the Sarcomere Gene MYH7 in Ebstein Anomaly von Postma, Alex V, van Engelen, Klaartje, van de Meerakker, Judith, Rahman, Thahira, Probst, Susanne, Baars, Marieke J.H, Bauer, Ulrike, Pickardt, Thomas, Sperling, Silke R, Berger, Felix, Moorman, Antoon F.M, Mulder, Barbara J.M, Thierfelder, Ludwig, Keavney, Bernard, Goodship, Judith, Klaassen, Sabine

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Deficiency of knowledge of genetics and genetic tests among general practitioners, gynecologists, and pediatricians: A global problem von Baars, Marieke J.H., Henneman, Lidewij, ten Kate, Leo P.

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A Mutation in C2orf64 Causes Impaired Cytochrome c Oxidase Assembly and Mitochondrial Cardiomyopathy von Huigsloot, Merei, Nijtmans, Leo G., Szklarczyk, Radek, Baars, Marieke J.H., van den Brand, Mariël A.M., HendriksFranssen, Marthe G.M., van den Heuvel, Lambertus P., Smeitink, Jan A.M., Huynen, Martijn A., Rodenburg, Richard J.T.

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Bicuspid Aortic Valve Morphology and Associated Cardiovascular Abnormalities in Fetal Turner Syndrome: A Pathomorphological Study von van Engelen, Klaartje, Bartelings, Margot M., Gittenberger-de Groot, Adriana C., Baars, Marieke J.H., Postma, Alex V., Bijlsma, Emilia K., Mulder, Barbara J.M., Jongbloed, Monique R.M.

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A tailored approach to informing relatives at risk of inherited cardiac conditions: results of a randomised controlled trial von van den Heuvel, Lieke M, Hoedemaekers, Yvonne M, Baas, Annette F, Baars, Marieke J H, van Tintelen, J Peter, Smets, Ellen M A, Christiaans, Imke

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Results of next‐generation sequencing gene panel diagnostics including copy‐number variation analysis in 810 patients suspected of heritable thoracic aortic disorders von Overwater, Eline, Marsili, Luisa, Baars, Marieke J.H., Baas, Annette F., de Beek, Irma, Dulfer, Eelco, Hagen, Johanna M., Hilhorst‐Hofstee, Yvonne, Kempers, Marlies, Krapels, Ingrid P., Menke, Leonie A., Verhagen, Judith M.A., Yeung, Kak K., Zwijnenburg, Petra J.G., Groenink, Maarten, Rijn, Peter, Weiss, Marjan M., Voorhoeve, Els, Tintelen, J. Peter, Houweling, Arjan C., Maugeri, Alessandra

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Phenotypic spectrum of TGFB3 disease‐causing variants in a Dutch‐French cohort and first report of a homozygous patient von Marsili, Luisa, Overwater, Eline, Hanna, Nadine, Baujat, Geneviève, Baars, Marieke J.H., Boileau, Catherine, Bonneau, Dominique, Brehin, Anne Claire, Capri, Yline, Cheung, Ho Y., Dulfer, Eelco, Gerard, Marion, Gouya, Laurent, Hilhorst‐Hofstee, Yvonne, Houweling, Arjan C., Isidor, Bertrand, Le Gloan, Lauriane, Menke, Leonie A., Odent, Sylvie, Morice‐Picard, Fanny, Vanlerberghe, Clemence, Voorhoeve, Els, Tintelen, J. Peter, Maugeri, Alessandra, Arnaud, Pauline

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Inflammation aggravates disease severity in Marfan syndrome patients von Radonic, Teodora, de Witte, Piet, Groenink, Maarten, de Waard, Vivian, Lutter, Rene, van Eijk, Marco, Jansen, Marnix, Timmermans, Janneke, Kempers, Marlies, Scholte, Arthur J, Hilhorst-Hofstee, Yvonne, van den Berg, Maarten P, van Tintelen, J Peter, Pals, Gerard, Baars, Marieke J H, Mulder, Barbara J M, Zwinderman, Aeilko H

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Testing the children : Do non-genetic health-care providers differ in their decision to advise genetic presymptomatic testing on minors ? A cross-sectional study in five countries... von PLASS, A.M, BAARS, M, CHALLEN, K, HARRIS, R, KATE, L, CORNEL, M, JULIAN-REYNIER, C, NIPPERT, I, HARRIS, H.J, KRISTOFFERSSON, U, SCHMIDTKE, J, ANIONWU, E, BENJAMIN, C

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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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The ambiguous role of NKX2-5 mutations in thyroid dysgenesis von van Engelen, Klaartje, Mommersteeg, Mathilda T M, Baars, Marieke J H, Lam, Jan, Ilgun, Aho, van Trotsenburg, A S Paul, Smets, Anne M J B, Christoffels, Vincent M, Mulder, Barbara J M, Postma, Alex V

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Genetics Education for Non-Genetic Health Care Professionals in the Netherlands (2002) von Plass, Anne Marie C., Baars, Marieke J.H., Beemer, Frits A., Kate, Leo P. ten

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Losartan therapy in adults with Marfan syndrome: study protocol of the multi-center randomized controlled COMPARE trial von Radonic, Teodora, de Witte, Piet, Baars, Marieke J H, Zwinderman, Aeilko H, Mulder, Barbara J M, Groenink, Maarten

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A mutation in the Kozak sequence of GATA4 hampers translation in a family with atrial septal defects von Mohan, Rajiv A., van Engelen, Klaartje, Stefanovic, Sonia, Barnett, Phil, Ilgun, Aho, Baars, Marieke J.H., Bouma, Berto J., Mulder, Barbara J.M., Christoffels, Vincent M., Postma, Alex V.

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Spontaneous Intracranial Hypotension as First Symptom of Aneurysms-Osteoarthritis Syndrome: A Case Report von Koppen, Hille, Baars, Marieke J.H., van Gils, Adrianus, Vis, Jeroen C.

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Heritable Connective Tissue Disorders in Childhood: Increased Fatigue, Pain, Disability and Decreased General Health von Warnink-Kavelaars, Jessica, de Koning, Lisanne E, Rombaut, Lies, Alsem, Mattijs W, Menke, Leonie A, Oosterlaan, Jaap, Buizer, Annemieke I, Engelbert, Raoul H H, On Behalf Of The Pediatric Heritable Connective Tissue Disorders Study Group

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22q11.2 Deletion Syndrome is under-recognised in adult patients with tetralogy of Fallot and pulmonary atresia von van Engelen, Klaartje, Topf, Ana, Keavney, Bernard D, Goodship, Judith A, van der Velde, Enno T, Baars, Marieke J H, Snijder, Simone, Moorman, Antoon F, Postma, Alex V, Mulder, Barbara J M

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Results of next-generation sequencing gene panel diagnostics including copy-number variation analysis in 810 patients suspected of heritable thoracic aortic disorders von Overwater, Eline, Marsili, Luisa, Baars, Marieke J.H, Baas, Annette F, van de Beek, Irma, Dulfer, Eelco, van Hagen, Johanna M, Hilhorst-Hofstee, Yvonne, Kempers, Marlies, Krapels, Ingrid P, Menke, Leonie A, Verhagen, Judith M.A, Yeung, Kak K, Zwijnenburg, Petra J.G, Groenink, Maarten, van Rijn, Peter, Weiss, Marjan M, Voorhoeve, Els, van Tintelen, J. Peter, Houweling, Arjan C, Maugeri, Alessandra

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The value of the clinical geneticist caring for adults with congenital heart disease: Diagnostic yield and patients' perspective von van Engelen, Klaartje, Baars, Marieke J.H., Felix, Joyce P., Postma, Alex V., Mulder, Barbara J.M., Smets, Ellen M.A.

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