Nienke Volker-Touw

Assistant Professor - medical

Recent publications

Comprehensive EHMT1 variants analysis broadens genotype-phenotype associations and molecular mechanisms in Kleefstra syndrome Dmitrijs Rots, Arianne Bouman, Ayumi Yamada, Michael Levy, Alexander J.M. Dingemans, Bert B.A. de Vries, Martina Ruiterkamp-Versteeg, Nicole de Leeuw, Charlotte W. Ockeloen, Rolph Pfundt, Elke de Boer, Joost Kummeling, Bregje van Bon, Hans van Bokhoven, Nael Nadif Kasri, Hanka Venselaar, Marielle Alders, Jennifer Kerkhof, Haley McConkey, Alma Kuechler, Bart Elffers, Rixje van Beeck Calkoen, Susanna Hofman, Audrey Smith, Maria Irene Valenzuela, Siddharth Srivastava, Zoe Frazier, Isabelle Maystadt, Carmelo Piscopo, Giuseppe Merla, Meena Balasubramanian, Gijs W.E. Santen, Kay Metcalfe, Soo Mi Park, Laurent Pasquier, Siddharth Banka, Dian Donnai, Daniel Weisberg, Gertrud Strobl-Wildemann, Annemieke Wagemans, Maaike Vreeburg, Diana Baralle, Nicola Foulds, Ingrid Scurr, Nicola Brunetti-Pierri, Johanna M. van Hagen, Emilia K. Bijlsma, Anna H. Hakonen, Carolina Courage, David Genevieve, Lucile Pinson, Francesca Forzano, Charu Deshpande, Maria L. Kluskens, Lindsey Welling, Astrid S. Plomp, Els K. Vanhoutte, Louisa Kalsner, Janna A. Hol, Audrey Putoux, Johanna Lazier, Pradeep Vasudevan, Elizabeth Ames, Jessica O'Shea, Damien Lederer, Julie Fleischer, Mary O'Connor, Melissa Pauly, Georgia Vasileiou, André Reis, Catherine Kiraly-Borri, Arjan Bouman, Chris Barnett, Marjan Nezarati, Lauren Borch, Gea Beunders, Kübra Özcan, Stéphanie Miot, Catharina M.L. Volker-Touw, Koen L.I. van Gassen, Gerarda Cappuccio, Katrien Janssens, Nofar Mor, Inna Shomer, Dan Dominissini, Matthew L. Tedder, Alison M. Muir, Bekim Sadikovic, Han G. Brunner, Lisenka E.L.M. Vissers, Yoichi Shinkai, Tjitske Kleefstra
American Journal of Human Genetics, 2024, vol. 111, p.1605-1625
Early Lethal Noncompaction Cardiomyopathy in Siblings With Compound Heterozygous RYR2 Variant Jantiene C. Duvekot, Annette F. Baas, Catharina M.L. Volker-Touw, Hennie Bikker, Christian Schroer, Johannes M.P.J. Breur
Canadian Journal of Cardiology, 2021, vol. 37, p.1864-1866
Disruption of RFX family transcription factors causes autism, attention-deficit/hyperactivity disorder, intellectual disability, and dysregulated behavior Holly K Harris, Tojo Nakayama, Jenny Lai, Boxun Zhao, Nikoleta Argyrou, Cynthia S Gubbels, Aubrie Soucy, Casie A Genetti, Victoria Suslovitch, Lance H Rodan, George E Tiller, Gaetan Lesca, Karen W Gripp, Reza Asadollahi, Ada Hamosh, Carolyn D Applegate, Peter D Turnpenny, Marleen E H Simon, Catharina M L Volker-Touw, Koen L I van Gassen, Ellen van Binsbergen, Rolph Pfundt, Thatjana Gardeitchik, Bert B A de Vries, LaDonna L Immken, Catherine Buchanan, Marcia Willing, Tomi L Toler, Emily Fassi, Laura Baker, Fleur Vansenne, Xiadong Wang, Julian L Ambrus, Madeleine Fannemel, Jennifer E Posey, Emanuele Agolini, Antonio Novelli, Anita Rauch, Paranchai Boonsawat, Christina R Fagerberg, Martin J Larsen, Maria Kibaek, Audrey Labalme, Alice Poisson, Katelyn K Payne, Laurence E Walsh, Kimberly A Aldinger, Jorune Balciuniene, Cara Skraban, Christopher Gray, Jill Murrell, Caleb P Bupp, Giulia Pascolini, Paola Grammatico, Martin Broly, Sébastien Küry, Mathilde Nizon, Iqra Ghulam Rasool, Muhammad Yasir Zahoor, Cornelia Kraus, André Reis, Muhammad Iqbal, Kevin Uguen, Severine Audebert-Bellanger, Claude Ferec, Sylvia Redon, Janice Baker, Yunhong Wu, Guiseppe Zampino, Steffan Syrbe, Ines Brosse, Rami Abou Jamra, William B Dobyns, Lilian L Cohen, Anne Blomhoff, Cyril Mignot, Boris Keren, Thomas Courtin, Pankaj B Agrawal, Alan H Beggs, Timothy W Yu
Genetics in medicine : official journal of the American College of Medical Genetics, 2021, vol. 23, p.1028-1040
NBEA Maureen S Mulhern, Constance Stumpel, Nicholas Stong, Han G Brunner, Louise Bier, Natalie Lippa, James Riviello, Rob P W Rouhl, Marlies Kempers, Rolph Pfundt, Alexander P A Stegmann, Mary K Kukolich, Aida Telegrafi, Anna Lehman, Elena Lopez-Rangel, Nada Houcinat, Magalie Barth, Nicolette den Hollander, Mariette J V Hoffer, Sarah Weckhuysen, Jolien Roovers, Tania Djemie, Diana Barca, Berten Ceulemans, Dana Craiu, Johannes R Lemke, Christian Korff, Heather C Mefford, Candace T Meyers, Zsuzsanna Siegler, Susan M Hiatt, Gregory M Cooper, E Martina Bebin, Lot Snijders Blok, Hermine E Veenstra-Knol, Evan H Baugh, Eva H Brilstra, Catharina M L Volker-Touw, Ellen van Binsbergen, Anya Revah-Politi, Elaine Pereira, Danielle McBrian, Mathilde Pacault, Bertrand Isidor, Cedric Le Caignec, Brigitte Gilbert-Dussardier, Frederic Bilan, Erin L Heinzen, David B Goldstein, Servi J C Stevens,
Annals of Neurology, 2018, vol. 84, p.788-795
Cantú syndrome, the changing phenotype Helen I Roessler, Catharina M L Volker-Touw, Paulien A Terhal, Gijs van Haaften, Mieke M van Haelst
Clinical dysmorphology, 2018, vol. 27, p.78-83
The genomic landscape of balanced cytogenetic abnormalities associated with human congenital anomalies Claire Redin, Harrison Brand, Ryan L Collins, Tammy Kammin, Elyse Mitchell, Jennelle C Hodge, Carrie Hanscom, Vamsee Pillalamarri, Catarina M Seabra, Mary-Alice Abbott, Omar A Abdul-Rahman, Erika Aberg, Rhett Adley, Sofia L Alcaraz-Estrada, Fowzan S Alkuraya, Yu An, Mary-Anne Anderson, Caroline Antolik, Kwame Anyane-Yeboa, Joan F Atkin, Tina Bartell, Jonathan A Bernstein, Elizabeth Beyer, Ian Blumenthal, Ernie M H F Bongers, Eva H Brilstra, Chester W Brown, Hennie T Brüggenwirth, Bert Callewaert, Colby Chiang, Ken Corning, Helen Cox, Edwin Cuppen, Benjamin B Currall, Tom Cushing, Dezso David, Matthew A Deardorff, Annelies Dheedene, Marc D'Hooghe, Bert B A de Vries, Dawn L Earl, Heather L Ferguson, Heather Fisher, David R FitzPatrick, Pamela Gerrol, Daniela Giachino, Joseph T Glessner, Troy Gliem, Margo Grady, Brett H Graham, Cristin Griffis, Karen W Gripp, Andrea L Gropman, Andrea Hanson-Kahn, David J Harris, Mark A Hayden, Rosamund Hill, Ron Hochstenbach, Jodi D Hoffman, Robert J Hopkin, Monika W Hubshman, A Micheil Innes, Mira Irons, Melita Irving, Jessie C Jacobsen, Sandra Janssens, Tamison Jewett, John P Johnson, Marjolijn C Jongmans, Stephen G Kahler, David A Koolen, Jerome Korzelius, Peter M Kroisel, Yves Lacassie, William Lawless, Emmanuelle Lemyre, Kathleen Leppig, Alex V Levin, Haibo Li, Hong Li, Eric C Liao, Cynthia Lim, Edward J Lose, Diane Lucente, Michael J Macera, Poornima Manavalan, Giorgia Mandrile, Carlo L Marcelis, Lauren Margolin, Tamara Mason, Diane Masser-Frye, Michael W McClellan, Cinthya J Zepeda Mendoza, Björn Menten, Sjors Middelkamp, Liya R Mikami, Emily Moe, Shehla Mohammed, Tarja Mononen, Megan E Mortenson, Graciela Moya, Aggie W Nieuwint, Zehra Ordulu, Sandhya Parkash, Susan P Pauker, Shahrin Pereira, Danielle Perrin, Katy Phelan, Raul E Piña Aguilar, Pino J Poddighe, Giulia Pregno, Salmo Raskin, Linda Reis, William Rhead, Debra Rita, Ivo Renkens, Filip Roelens, Jayla Ruliera, Patrick Rump, Samantha L P Schilit, Ranad Shaheen, Rebecca Sparkes, Erica Spiegel, Blair Stevens, Matthew R Stone, Julia Tagoe, Joseph V Thakuria, Bregje W van Bon, Jiddeke van de Kamp, Ineke van Der Burgt, Ton van Essen, Conny M van Ravenswaaij-Arts, Markus J van Roosmalen, Sarah Vergult, Catharina M L Volker-Touw, Dorothy P Warburton, Matthew J Waterman, Susan Wiley, Anna Wilson, Maria de la Concepcion A Yerena-de Vega, Roberto T Zori, Brynn Levy, Han G Brunner, Nicole de Leeuw, Wigard P Kloosterman, Erik C Thorland, Cynthia C Morton, James F Gusella, Michael E Talkowski
Nature Genetics, 2017, vol. 49, p.36–45