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 KuechlerBart 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^*Show 72 moreShow less