Identification of RNA binding motif proteins essential for cardiovascular development

por Maragh, Samantha, Miller, Ronald A, Bessling, Seneca L, McGaughey, David M, Wessels, Marja W, de Graaf, Bianca, Stone, Eric A, Bertoli-Avella, Aida M, Gearhart, John D, Fisher, Shannon, McCallion, Andrew S
Publicado 2011

Terminal osseous dysplasia with pigmentary defects and cardiomyopathy caused by a novel FLNA variant

por Rumping, Lynne, Wessels, Marja W., Postma, Alex V., van Schuppen, Joost, van Slegtenhorst, Marjon A., Saris, Jasper J., van Tintelen, J. Peter, Robertson, Stephen P., Alders, Mariëlle, Maas, Saskia M., Deprez, Ronald H. Lekanne
Publicado 2021

Expanding Clinical Presentations Due to Variations in THOC2 mRNA Nuclear Export Factor

por Kumar, Raman, Palmer, Elizabeth, Gardner, Alison E., Carroll, Renee, Banka, Siddharth, Abdelhadi, Ola, Donnai, Dian, Elgersma, Ype, Curry, Cynthia J., Gardham, Alice, Suri, Mohnish, Malla, Rishikesh, Brady, Lauren Ilana, Tarnopolsky, Mark, Azmanov, Dimitar N., Atkinson, Vanessa, Black, Michael, Baynam, Gareth, Dreyer, Lauren, Hayeems, Robin Z., Marshall, Christian R., Costain, Gregory, Wessels, Marja W., Baptista, Julia, Drummond, James, Leffler, Melanie, Field, Michael, Gecz, Jozef
Publicado 2020

Multi-Omics Profiling in Marfan Syndrome: Further Insights into the Molecular Mechanisms Involved in Aortic Disease

por 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
Publicado 2021

The arrhythmogenic cardiomyopathy phenotype associated with PKP2 c.1211dup variant

por Bos, Thomas A., Piers, Sebastiaan R. D., Wessels, Marja W., Houweling, Arjan C., Bökenkamp, Regina, Bootsma, Marianne, Bosman, Laurens P., Evertz, Reinder, Hellebrekers, Debby M. E. I., Hoedemaekers, Yvonne M., Knijnenburg, Jeroen, Lekanne Deprez, Ronald, van Mil, Anneke M., te Riele, Anneline S. J. M., van Slegtenhorst, Marjon A., Wilde, Arthur A. M., Yap, Sing-Chien, Dooijes, Dennis, Koopmann, Tamara T., van Tintelen, J. Peter, Barge-Schaapveld, Daniela Q. C. M.
Publicado 2023

Lack of evidence for a causal role of CALR3 in monogenic cardiomyopathy

por 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.
Publicado 2018

De novo truncating NOVA2 variants affect alternative splicing and lead to heterogeneous neurodevelopmental phenotypes

por Scala, Marcello, Drouot, Nathalie, MacLennan, Suzanna C., Wessels, Marja W., Krygier, Magdalena, Pavinato, Lisa, Telegrafi, Aida, de Man, Stella A., van 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
Publicado 2022

The MAP3K7 gene: Further delineation of clinical characteristics and genotype/phenotype correlations

por van Woerden, Geeske M., Senden, Richelle, de Konink, Charlotte, Trezza, Rossella A., Baban, Anwar, Bassetti, Jennifer A., van Bever, Yolande, Bird, Lynne M., van 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., van Wieringen, Hester, Hurst, Anna C., Gooch, Catherine F., Steindl, Katharina, Joset, Pascal, Rauch, Anita, Tartaglia, Marco, Niceta, Marcello, Elgersma, Ype, Demirdas, Serwet
Publicado 2022

Biallelic Variants in ASNA1, Encoding a Cytosolic Targeting Factor of Tail-Anchored Proteins, Cause Rapidly Progressive Pediatric Cardiomyopathy

por 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.
Publicado 2019

Mutations in XPR1 cause primary familial brain calcification associated with altered phosphate export

por Legati, Andrea, Giovannini, Donatella, Nicolas, Gaël, López-Sánchez, Uriel, Quintáns, Beatriz, Oliveira, João, Sears, Renee L., Marisa Ramos, Eliana, Spiteri, Elizabeth, Sobrido, María-Jesús, Carracedo, Ángel, Castro-Fernández, Cristina, Cubizolle, Stéphanie, Fogel, Brent L., Goizet, Cyril, Jen, Joanna C., Kirdlarp, Suppachok, Lang, Anthony E., Miedzybrodzka, Zosia, Mitarnun, Witoon, Paucar, Martin, Paulson, Henry, Pariente, Jérémie, Richard, Anne-Claire, Salins, Naomi S., Simpson, Sheila A., Striano, Pasquale, Svenningsson, Per, Tison, François, Unni, Vivek K., Vanakker, Olivier, Wessels, Marja W., Wetchaphanphesat, Suppachok, Yang, Michele, Boller, Francois, Campion, Dominique, Hannequin, Didier, Sitbon, Marc, Geschwind, Daniel H., Battini, Jean-Luc, Coppola, Giovanni
Publicado 2015

Candidate Gene Resequencing in a Large Bicuspid Aortic Valve-Associated Thoracic Aortic Aneurysm Cohort: SMAD6 as an Important Contributor

por Gillis, Elisabeth, Kumar, Ajay A., Luyckx, Ilse, Preuss, Christoph, Cannaerts, Elyssa, van de Beek, Gerarda, Wieschendorf, Björn, Alaerts, Maaike, Bolar, Nikhita, Vandeweyer, Geert, Meester, Josephina, Wünnemann, Florian, Gould, Russell A., Zhurayev, Rustam, Zerbino, Dmytro, Mohamed, Salah A., Mital, Seema, Mertens, Luc, Björck, Hanna M., Franco-Cereceda, Anders, McCallion, Andrew S., Van Laer, Lut, Verhagen, Judith M. A., van de Laar, Ingrid M. B. H., Wessels, Marja W., Messas, Emmanuel, Goudot, Guillaume, Nemcikova, Michaela, Krebsova, Alice, Kempers, Marlies, Salemink, Simone, Duijnhouwer, Toon, Jeunemaitre, Xavier, Albuisson, Juliette, Eriksson, Per, Andelfinger, Gregor, Dietz, Harry C., Verstraeten, Aline, Loeys, Bart L.
Publicado 2017

Corrigendum: Candidate Gene Resequencing in a Large Bicuspid Aortic Valve-Associated Thoracic Aortic Aneurysm Cohort: SMAD6 as an Important Contributor

por Gillis, Elisabeth, Kumar, Ajay A., Luyckx, Ilse, Preuss, Christoph, Cannaerts, Elyssa, van de Beek, Gerarda, Wieschendorf, Björn, Alaerts, Maaike, Bolar, Nikhita, Vandeweyer, Geert, Meester, Josephina, Wünnemann, Florian, Gould, Russell A., Zhurayev, Rustam, Zerbino, Dmytro, Mohamed, Salah A., Mital, Seema, Mertens, Luc, Björck, Hanna M., Franco-Cereceda, Anders, McCallion, Andrew S., Van Laer, Lut, Verhagen, Judith M. A., van de Laar, Ingrid M. B. H., Wessels, Marja W., Messas, Emmanuel, Goudot, Guillaume, Nemcikova, Michaela, Krebsova, Alice, Kempers, Marlies, Salemink, Simone, Duijnhouwer, Toon, Jeunemaitre, Xavier, Albuisson, Juliette, Eriksson, Per, Andelfinger, Gregor, Dietz, Harry C., Verstraeten, Aline, Loeys, Bart L.
Publicado 2017

Mutations in a TGF-β Ligand, TGFB3, Cause Syndromic Aortic Aneurysms and Dissections

por Bertoli-Avella, Aida M., Gillis, Elisabeth, Morisaki, Hiroko, Verhagen, Judith M.A., de Graaf, Bianca M., van de Beek, Gerarda, Gallo, Elena, Kruithof, Boudewijn P.T., Venselaar, Hanka, Myers, Loretha A., Laga, Steven, Doyle, Alexander J., Oswald, Gretchen, van Cappellen, Gert W.A., Yamanaka, Itaru, van der Helm, Robert M., Beverloo, Berna, de Klein, Annelies, Pardo, Luba, Lammens, Martin, Evers, Christina, Devriendt, Koenraad, Dumoulein, Michiel, Timmermans, Janneke, Bruggenwirth, Hennie T., Verheijen, Frans, Rodrigus, Inez, Baynam, Gareth, Kempers, Marlies, Saenen, Johan, Van Craenenbroeck, Emeline M., Minatoya, Kenji, Matsukawa, Ritsu, Tsukube, Takuro, Kubo, Noriaki, Hofstra, Robert, Goumans, Marie Jose, Bekkers, Jos A., Roos-Hesselink, Jolien W., van de Laar, Ingrid M.B.H., Dietz, Harry C., Van Laer, Lut, Morisaki, Takayuki, Wessels, Marja W., Loeys, Bart L.
Publicado 2015