Mutations in a TGF-β Ligand, TGFB3, Cause Syndromic Aortic Aneurysms and Dissections
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
Published in Journal of the American College of Cardiology (07.04.2015)
Published in Journal of the American College of Cardiology (07.04.2015)
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Pregnancy in Women With SMAD3 Mutation
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
Published in Journal of the American College of Cardiology (14.03.2017)
Published in Journal of the American College of Cardiology (14.03.2017)
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Broadening the phenotypic spectrum of pathogenic LARP7 variants: two cases with intellectual disability, variable growth retardation and distinct facial features
Hollink, Iris H I M, Alfadhel, Majid, Al-Wakeel, Anwar S, Ababneh, Farough, Pfundt, Rolph, de Man, Stella A, Jamra, Rami Abou, Rolfs, Arndt, Bertoli-Avella, Aida M, van de Laar, Ingrid M B H
Published in Journal of human genetics (01.03.2016)
Published in Journal of human genetics (01.03.2016)
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NPHP4 Variants Are Associated With Pleiotropic Heart Malformations
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
Published in Circulation research (08.06.2012)
Published in Circulation research (08.06.2012)
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Aneurysm-osteoarthritis syndrome with visceral and iliac artery aneurysms
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
Published in Journal of vascular surgery (01.01.2013)
Published in Journal of vascular surgery (01.01.2013)
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Blood biomarkers in patients with bicuspid aortic valve disease
Bons, Lidia R., Geenen, Laurie W., van den Hoven, Allard T., Dik, Willem A., van den Bosch, Annemien E., Duijnhouwer, Anthonie L., Siebelink, Hans-Marc J., Budde, Ricardo P.J., Boersma, Eric, Wessels, Marja W., van de Laar, Ingrid M.B.H., DeRuiter, Marco C., Goumans, Marie-José, Loeys, Bart L., Roos-Hesselink, Jolien W.
Published in Journal of cardiology (01.09.2020)
Published in Journal of cardiology (01.09.2020)
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Progression Rate and Early Surgical Experience in the New Aggressive Aneurysms-Osteoarthritis Syndrome
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
Published in The Annals of thoracic surgery (01.02.2013)
Published in The Annals of thoracic surgery (01.02.2013)
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SYNGAP1 encephalopathy: A distinctive generalized developmental and epileptic encephalopathy
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
Published in Neurology (08.01.2019)
Published in Neurology (08.01.2019)
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Mutations in SMAD3 cause a syndromic form of aortic aneurysms and dissections with early-onset osteoarthritis
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
Published in Nature genetics (01.02.2011)
Published in Nature genetics (01.02.2011)
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Pathogenic SPTBN1 variants cause an autosomal dominant neurodevelopmental syndrome
Cousin, Margot A., Creighton, Blake A., Breau, Keith A., Spillmann, Rebecca C., Torti, Erin, Dontu, Sruthi, Tripathi, Swarnendu, Ajit, Deepa, Edwards, Reginald J., Afriyie, Simone, Bay, Julia C., Harper, Kathryn M., Beltran, Alvaro A., Munoz, Lorena J., Falcon Rodriguez, Liset, Stankewich, Michael C., Person, Richard E., Si, Yue, Normand, Elizabeth A., Blevins, Amy, May, Alison S., Bier, Louise, Aggarwal, Vimla, Mancini, Grazia M. S., van Slegtenhorst, Marjon A., Cremer, Kirsten, Becker, Jessica, Engels, Hartmut, Aretz, Stefan, MacKenzie, Jennifer J., Brilstra, Eva, van Gassen, Koen L. I., van Jaarsveld, Richard H., Oegema, Renske, Parsons, Gretchen M., Mark, Paul, Helbig, Ingo, McKeown, Sarah E., Stratton, Robert, Cogne, Benjamin, Isidor, Bertrand, Cacheiro, Pilar, Smedley, Damian, Firth, Helen V., Bierhals, Tatjana, Kloth, Katja, Weiss, Deike, Fairley, Cecilia, Shieh, Joseph T., Kritzer, Amy, Jayakar, Parul, Kurtz-Nelson, Evangeline, Bernier, Raphael A., Wang, Tianyun, Eichler, Evan E., van de Laar, Ingrid M. B. H., McConkie-Rosell, Allyn, McDonald, Marie T., Kemppainen, Jennifer, Lanpher, Brendan C., Schultz-Rogers, Laura E., Gunderson, Lauren B., Pichurin, Pavel N., Yoon, Grace, Zech, Michael, Jech, Robert, Winkelmann, Juliane, Beltran, Adriana S., Zimmermann, Michael T., Temple, Brenda, Moy, Sheryl S., Klee, Eric W., Tan, Queenie K.-G., Lorenzo, Damaris N.
Published in Nature genetics (01.07.2021)
Published in Nature genetics (01.07.2021)
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Expert consensus recommendations on the cardiogenetic care for patients with thoracic aortic disease and their first-degree relatives
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.
Published in International journal of cardiology (01.05.2018)
Published in International journal of cardiology (01.05.2018)
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De Novo Heterozygous POLR2A Variants Cause a Neurodevelopmental Syndrome with Profound Infantile-Onset Hypotonia
Haijes, Hanneke A., Koster, Maria J.E., Rehmann, Holger, Li, Dong, Hakonarson, Hakon, Cappuccio, Gerarda, Hancarova, Miroslava, Lehalle, Daphne, Reardon, Willie, Schaefer, G. Bradley, Lehman, Anna, van de Laar, Ingrid M.B.H., Tesselaar, Coranne D., Turner, Clesson, Goldenberg, Alice, Patrier, Sophie, Thevenon, Julien, Pinelli, Michele, Brunetti-Pierri, Nicola, Prchalová, Darina, Havlovicová, Markéta, Vlckova, Markéta, Sedláček, Zdeněk, Lopez, Elena, Ragoussis, Vassilis, Pagnamenta, Alistair T., Kini, Usha, Vos, Harmjan R., van Es, Robert M., van Schaik, Richard F.M.A., van Essen, Ton A.J., Kibaek, Maria, Taylor, Jenny C., Sullivan, Jennifer, Shashi, Vandana, Petrovski, Slave, Fagerberg, Christina, Martin, Donna M., van Gassen, Koen L.I., Pfundt, Rolph, Falk, Marni J., McCormick, Elizabeth M., Timmers, H.T. Marc, van Hasselt, Peter M.
Published in American journal of human genetics (01.08.2019)
Published in American journal of human genetics (01.08.2019)
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Web-accessible application for identifying pathogenic transcripts with RNA-seq: Increased sensitivity in diagnosis of neurodevelopmental disorders
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.
Published in American journal of human genetics (02.02.2023)
Published in American journal of human genetics (02.02.2023)
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Phenotypic spectrum of the SMAD3-related aneurysms–osteoarthritis syndrome
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
Published in Journal of medical genetics (01.01.2012)
Published in Journal of medical genetics (01.01.2012)
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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
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.
Published in Genetics in medicine (01.09.2016)
Published in Genetics in medicine (01.09.2016)
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Expanding the clinical and genetic spectrum of ALPK3 variants: Phenotypes identified in pediatric cardiomyopathy patients and adults with heterozygous variants
Herkert, Johanna C., Verhagen, Judith M.A., Yotti, Raquel, Haghighi, Alireza, Phelan, Dean G., James, Paul A., Brown, Natasha J., Stutterd, Chloe, Macciocca, Ivan, Leong, Kai'En, Bulthuis, Marian L.C., van Bever, Yolande, van Slegtenhorst, Marjon A., Boven, Ludolf G., Roberts, Amy E., Agarwal, Radhika, Seidman, Jonathan, Lakdawala, Neal K., Fernández-Avilés, Francisco, Burke, Michael A., Pierpont, Mary Ella, Braunlin, Elizabeth, Ḉağlayan, Ahmet Okay, Barge-Schaapveld, Daniela Q.C.M., Birnie, Erwin, van Osch-Gevers, Lennie, van Langen, Irene M., Jongbloed, Jan D.H., Lockhart, Paul J., Amor, David J., Seidman, Christine E., van de Laar, Ingrid M.B.H.
Published in The American heart journal (01.07.2020)
Published in The American heart journal (01.07.2020)
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Missense and truncating variants in CHD5 in a dominant neurodevelopmental disorder with intellectual disability, behavioral disturbances, and epilepsy
Parenti, Ilaria, Lehalle, Daphné, Nava, Caroline, Torti, Erin, Leitão, Elsa, Person, Richard, Mizuguchi, Takeshi, Matsumoto, Naomichi, Kato, Mitsuhiro, Nakamura, Kazuyuki, de Man, Stella A., Cope, Heidi, Shashi, Vandana, Friedman, Jennifer, Joset, Pascal, Steindl, Katharina, Rauch, Anita, Muffels, Irena, van Hasselt, Peter M., Petit, Florence, Smol, Thomas, Le Guyader, Gwenaël, Bilan, Frédéric, Sorlin, Arthur, Vitobello, Antonio, Philippe, Christophe, van de Laar, Ingrid M. B. H., van Slegtenhorst, Marjon A., Campeau, Philippe M., Au, Ping Yee Billie, Nakashima, Mitsuko, Saitsu, Hirotomo, Yamamoto, Tatsuya, Nomura, Yumiko, Louie, Raymond J., Lyons, Michael J., Dobson, Amy, Plomp, Astrid S., Motazacker, M. Mahdi, Kaiser, Frank J., Timberlake, Andrew T., Fuchs, Sabine A., Depienne, Christel, Mignot, Cyril
Published in Human genetics (01.07.2021)
Published in Human genetics (01.07.2021)
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Biallelic Truncating Mutations in ALPK3 Cause Severe Pediatric Cardiomyopathy
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
Published in Journal of the American College of Cardiology (09.02.2016)
Published in Journal of the American College of Cardiology (09.02.2016)
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Establishing the phenotypic spectrum of ZTTK syndrome by analysis of 52 individuals with variants in SON
Dingemans, Alexander J M, Truijen, Kim M G, Kim, Jung-Hyun, Alaçam, Zahide, Faivre, Laurence, Collins, Kathleen M, Gerkes, Erica H, van Haelst, Mieke, van de Laar, Ingrid M B H, Lindstrom, Kristin, Nizon, Mathilde, Pauling, James, Heropolitańska-Pliszka, Edyta, Plomp, Astrid S, Racine, Caroline, Sachdev, Rani, Sinnema, Margje, Skranes, Jon, Veenstra-Knol, Hermine E, Verberne, Eline A, Vulto-van Silfhout, Anneke T, Wilsterman, Marlon E F, Ahn, Eun-Young Erin, de Vries, Bert B A, Vissers, Lisenka E L M
Published in European journal of human genetics : EJHG (01.03.2022)
Published in European journal of human genetics : EJHG (01.03.2022)
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DLG4-related synaptopathy: a new rare brain disorder
Rodríguez-Palmero, Agustí, Boerrigter, Melissa Maria, Gómez-Andrés, David, Aldinger, Kimberly A., Marcos-Alcalde, Íñigo, Popp, Bernt, Everman, David B., Lovgren, Alysia Kern, Arpin, Stephanie, Bahrambeigi, Vahid, Beunders, Gea, Bisgaard, Anne-Marie, Bjerregaard, V. A., Bruel, Ange-Line, Challman, Thomas D., Cogné, Benjamin, Coubes, Christine, de Man, Stella A., Denommé-Pichon, Anne-Sophie, Dye, Thomas J., Elmslie, Frances, Feuk, Lars, García-Miñaúr, Sixto, Gertler, Tracy, Giorgio, Elisa, Gruchy, Nicolas, Haack, Tobias B., Haldeman-Englert, Chad R., Haukanes, Bjørn Ivar, Hoyer, Juliane, Hurst, Anna C. E., Isidor, Bertrand, Soller, Maria Johansson, Kushary, Sulagna, Kvarnung, Malin, Landau, Yuval E., Leppig, Kathleen A., Lindstrand, Anna, Kleinendorst, Lotte, MacKenzie, Alex, Mandrile, Giorgia, Mendelsohn, Bryce A., Moghadasi, Setareh, Morton, Jenny E., Moutton, Sebastien, Müller, Amelie J., O’Leary, Melanie, Pacio-Míguez, Marta, Palomares-Bralo, Maria, Parikh, Sumit, Pfundt, Rolph, Pode-Shakked, Ben, Rauch, Anita, Repnikova, Elena, Revah-Politi, Anya, Ross, Meredith J., Ruivenkamp, Claudia A. L., Sarrazin, Elisabeth, Savatt, Juliann M., Schlüter, Agatha, Schönewolf-Greulich, Bitten, Shad, Zohra, Shaw-Smith, Charles, Shieh, Joseph T., Shohat, Motti, Spranger, Stephanie, Thiese, Heidi, Mau-Them, Frederic Tran, van Bon, Bregje, van de Burgt, Ineke, van de Laar, Ingrid M. B. H., van Drie, Esmée, van Haelst, Mieke M., van Ravenswaaij-Arts, Conny M., Verdura, Edgard, Vitobello, Antonio, Waldmüller, Stephan, Whiting, Sharon, Zweier, Christiane, Prada, Carlos E., de Vries, Bert B. A., Dobyns, William B., Reiter, Simone F., Gómez-Puertas, Paulino, Pujol, Aurora, Tümer, Zeynep
Published in Genetics in medicine (01.05.2021)
Published in Genetics in medicine (01.05.2021)
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