Deciphering the Glycosylome of Dystroglycanopathies Using Haploid Screens for Lassa Virus Entry
Jae, Lucas T., Raaben, Matthijs, Riemersma, Moniek, van Beusekom, Ellen, Blomen, Vincent A., Velds, Arno, Kerkhoven, Ron. M., Carette, Jan E., Topaloglu, Haluk, Meinecke, Peter, Wessels, Marja W., Lefeber, Dirk J., Whelan, Sean P., van Bokhoven, Hans, Brummelkamp, Thijn R.
Published in Science (American Association for the Advancement of Science) (26.04.2013)
Published in Science (American Association for the Advancement of Science) (26.04.2013)
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Cardiac Phenotypes, Genetics, and Risks in Familial Noncompaction Cardiomyopathy
van Waning, Jaap I., Caliskan, Kadir, Michels, Michelle, Schinkel, Arend F.L., Hirsch, Alexander, Dalinghaus, Michiel, Hoedemaekers, Yvonne M., Wessels, Marja W., IJpma, Arne S., Hofstra, Robert M.W., van Slegtenhorst, Marjon A., Majoor-Krakauer, Danielle
Published in Journal of the American College of Cardiology (09.04.2019)
Published in Journal of the American College of Cardiology (09.04.2019)
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Mutations in SWI/SNF chromatin remodeling complex gene ARID1B cause Coffin-Siris syndrome
SANTEN, Gijs W. E, ATEN, Emmelien, WESSELS, Marja W, DEN HOLLANDER, Nicolette S, RUIVENKAMP, Claudia A. L, OMMEN, Gert-Jan B.van, BREUNING, Martijn H, DEN DUNNEN, Johan T, HAERINGEN, Arie Van, KRIEK, Marjolein, YU SUN, ALMOMANI, Rowida, GILISSEN, Christian, NIELSEN, Maartje, KANT, Sarina G, SNOECK, Irina N, PEETERS, Els A. J, HILHORST-HOFSTEE, Yvonne
Published in Nature genetics (01.04.2012)
Published in Nature genetics (01.04.2012)
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Variants in nuclear factor I genes influence growth and development
Zenker, Martin, Bunt, Jens, Schanze, Ina, Schanze, Denny, Piper, Michael, Priolo, Manuela, Gerkes, Erica H., Gronostajski, Richard M., Richards, Linda J., Vogt, Julie, Wessels, Marja W., Hennekam, Raoul C.
Published in American journal of medical genetics. Part C, Seminars in medical genetics (01.12.2019)
Published in American journal of medical genetics. Part C, Seminars in medical genetics (01.12.2019)
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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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The recurrent de novo c.2011C>T missense variant in MTSS2 causes syndromic intellectual disability
Huang, Yan, Lemire, Gabrielle, Briere, Lauren C., Liu, Fang, Wessels, Marja W., Wang, Xueqi, Osmond, Matthew, Kanca, Oguz, Lu, Shenzhao, High, Frances A., Walker, Melissa A., Rodan, Lance H., Wangler, Michael F., Yamamoto, Shinya, Kernohan, Kristin D., Sweetser, David A., Boycott, Kym M., Bellen, Hugo J.
Published in American journal of human genetics (06.10.2022)
Published in American journal of human genetics (06.10.2022)
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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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Compound heterozygous or homozygous truncating MYBPC3 mutations cause lethal cardiomyopathy with features of noncompaction and septal defects
Wessels, Marja W, Herkert, Johanna C, Frohn-Mulder, Ingrid M, Dalinghaus, Michiel, van den Wijngaard, Arthur, de Krijger, Ronald R, Michels, Michelle, de Coo, Irenaeus Fm, Hoedemaekers, Yvonne M, Dooijes, Dennis
Published in European journal of human genetics : EJHG (01.07.2015)
Published in European journal of human genetics : EJHG (01.07.2015)
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Homozygous damaging SOD2 variant causes lethal neonatal dilated cardiomyopathy
Almomani, Rowida, Herkert, Johanna C, Posafalvi, Anna, Post, Jan G, Boven, Ludolf G, van der Zwaag, Paul A, Willems, Peter H G M, van Veen-Hof, Ingrid H, Verhagen, Judith M A, Wessels, Marja W, Nikkels, Peter G J, Wintjes, Liesbeth T, van den Berg, Maarten P, Sinke, Richard J, Rodenburg, Richard J, Niezen-Koning, Klary E, van Tintelen, J Peter, Jongbloed, Jan D H
Published in Journal of medical genetics (01.01.2020)
Published in Journal of medical genetics (01.01.2020)
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The recurrent de novo c.2011C>T missense variant in MTSS2 causes syndromic intellectual disability
Huang, Yan, Lemire, Gabrielle, Briere, Lauren C., Liu, Fang, Wessels, Marja W., Wang, Xueqi, Osmond, Matthew, Kanca, Oguz, Lu, Shenzhao, High, Frances A., Walker, Melissa A., Rodan, Lance H., Wangler, Michael F., Yamamoto, Shinya, Kernohan, Kristin D., Sweetser, David A., Boycott, Kym M., Bellen, Hugo J.
Published in American journal of human genetics (03.11.2022)
Published in American journal of human genetics (03.11.2022)
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Mutations in the facilitative glucose transporter GLUT10 alter angiogenesis and cause arterial tortuosity syndrome
Coucke, Paul J, Willaert, Andy, Wessels, Marja W, Callewaert, Bert, Zoppi, Nicoletta, De Backer, Julie, Fox, Joyce E, Mancini, Grazia M S, Kambouris, Marios, Gardella, Rita, Facchetti, Fabio, Willems, Patrick J, Forsyth, Ramses, Dietz, Harry C, Barlati, Sergio, Colombi, Marina, Loeys, Bart, De Paepe, Anne
Published in Nature genetics (01.04.2006)
Published in Nature genetics (01.04.2006)
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Multi-Omics Profiling in Marfan Syndrome: Further Insights into the Molecular Mechanisms Involved in Aortic Disease
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
Published in International journal of molecular sciences (31.12.2021)
Published in International journal of molecular sciences (31.12.2021)
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Human KCNQ5 de novo mutations underlie epilepsy and intellectual disability
Wei, Aguan D, Wakenight, Paul, Zwingman, Theresa A, Bard, Angela M, Sahai, Nikhil, Willemsen, Marjolein H, Schelhaas, Helenius J, Stegmann, Alexander P A, Verhoeven, Judith S, de Man, Stella A, Wessels, Marja W, Kleefstra, Tjitske, Shinde, Deepali N, Helbig, Katherine L, Basinger, Alice, Wagner, Victoria F, Rodriguez-Buritica, David, Bryant, Emily, Millichap, John J, Millen, Kathleen J, Dobyns, William B, Ramirez, Jan-Marino, Kalume, Franck K
Published in Journal of neurophysiology (01.07.2022)
Published in Journal of neurophysiology (01.07.2022)
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Phenotypic variability of filamin C–related cardiomyopathy: Insights from a novel Dutch founder variant
Schoonvelde, Stephan A.C., Ruijmbeek, Claudine W.B., Hirsch, Alexander, van Slegtenhorst, Marjon A., Wessels, Marja W., von der Thüsen, Jan H., Baas, Annette F., Stroeks, Sophie L.V.M., Verdonschot, Job A.J., van der Zwaag, Paul A., Verhagen, Judith M.A., Michels, Michelle
Published in Heart rhythm (01.11.2023)
Published in Heart rhythm (01.11.2023)
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De novo truncating NOVA2 variants affect alternative splicing and lead to heterogeneous neurodevelopmental phenotypes
Scala, Marcello, Drouot, Nathalie, MacLennan, Suzanna C., Wessels, Marja W., Krygier, Magdalena, Pavinato, Lisa, Telegrafi, Aida, Man, Stella A., Slegtenhorst, Marjon, Iacomino, Michele, Madia, Francesca, Scudieri, Paolo, Uva, Paolo, Giacomini, Thea, Nobile, Giulia, Mancardi, Maria Margherita, Balagura, Ganna, Galloni, Giovanni Battista, Verrotti, Alberto, Umair, Muhammad, Khan, Amjad, Liebelt, Jan, Schmidts, Miriam, Langer, Thorsten, Brusco, Alfredo, Lipska‐Ziętkiewicz, Beata S., Saris, Jasper J., Charlet‐Berguerand, Nicolas, Zara, Federico, Striano, Pasquale, Piton, Amélie
Published in Human mutation (01.09.2022)
Published in Human mutation (01.09.2022)
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The Importance of Genetic Counseling, DNA Diagnostics, and Cardiologic Family Screening in Left Ventricular Noncompaction Cardiomyopathy
Hoedemaekers, Yvonne M, Caliskan, Kadir, Michels, Michelle, Frohn-Mulder, Ingrid, van der Smagt, Jasper J, Phefferkorn, Judith E, Wessels, Marja W, ten Cate, Folkert J, Sijbrands, Eric J.G, Dooijes, Dennis, Majoor-Krakauer, Danielle F
Published in Circulation. Cardiovascular genetics (01.06.2010)
Published in Circulation. Cardiovascular genetics (01.06.2010)
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The MAP3K7 gene: Further delineation of clinical characteristics and genotype/phenotype correlations
Woerden, Geeske M., Senden, Richelle, Konink, Charlotte, Trezza, Rossella A., Baban, Anwar, Bassetti, Jennifer A., Bever, Yolande, Bird, Lynne M., Bon, Bregje W., Brooks, Alice S., Guan, Qiaoning, Klee, Eric W., Marcelis, Carlo, Rosado, Joel M., Schimmenti, Lisa A., Shikany, Amy R., Terhal, Paulien A., Nicole Weaver, Kathryn, Wessels, Marja W., Wieringen, Hester, Hurst, Anna C., Gooch, Catherine F., Steindl, Katharina, Joset, Pascal, Rauch, Anita, Tartaglia, Marco, Niceta, Marcello, Elgersma, Ype, Demirdas, Serwet
Published in Human mutation (01.10.2022)
Published in Human mutation (01.10.2022)
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Mutation in the AP4M1 Gene Provides a Model for Neuroaxonal Injury in Cerebral Palsy
Verkerk, Annemieke J.M.H., Schot, Rachel, Dumee, Belinda, Schellekens, Karlijn, Swagemakers, Sigrid, Bertoli-Avella, Aida M., Lequin, Maarten H., Dudink, Jeroen, Govaert, Paul, van Zwol, A.L., Hirst, Jennifer, Wessels, Marja W., Catsman-Berrevoets, Coriene, Verheijen, Frans W., de Graaff, Esther, de Coo, Irenaeus F.M., Kros, Johan M., Willemsen, Rob, Willems, Patrick J., van der Spek, Peter J., Mancini, Grazia M.S.
Published in American journal of human genetics (10.07.2009)
Published in American journal of human genetics (10.07.2009)
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Multicenter clinical and functional evidence reclassifies a recurrent noncanonical filamin C splice-altering variant
O’Neill, Matthew J., Chen, Suet Nee, Rumping, Lynne, Johnson, Renee, van Slegtenhorst, Marjon, Glazer, Andrew M., Yang, Tao, Solus, Joseph F., Laudeman, Julie, Mitchell, Devyn W., Vanags, Loren R., Kroncke, Brett M., Anderson, Katherine, Gao, Shanshan, Verdonschot, Job A.J., Brunner, Han, Hellebrekers, Debby, Taylor, Matthew R.G., Roden, Dan M., Wessels, Marja W., Lekanne Dit Deprez, Ronald H., Fatkin, Diane, Mestroni, Luisa, Shoemaker, M. Benjamin
Published in Heart rhythm (01.08.2023)
Published in Heart rhythm (01.08.2023)
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Expanding the genetic and phenotypic spectrum of ACTA2-related vasculopathies in a Dutch cohort
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.
Published in Genetics in medicine (01.02.2024)
Published in Genetics in medicine (01.02.2024)
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