Comprehensive EHMT1 variants analysis broadens genotype-phenotype associations and molecular mechanisms in Kleefstra syndrome

Dmitrijs Rots, Arianne Bouman, Ayumi Yamada, Michael A. 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 W.M. van Bon, Hans van Bokhoven, Nael Nadif Kasri, Hanka Venselaar, Mariëlle Alders, Jennifer Kerkhof, Haley McConkey, Alma Kuechler, Bart Elffers, Rixje van Beeck Calkoen, Susanna Hofman, Audrey Smith, Irene Valenzuela, Siddharth Srivastava, Zoë 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 Geneviève, 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 OʼConnor, M. Pauly, Georgia Vasileiou, André Reis, Cathy Kiraly‐Borri, Arjan Bouman, Chris Barnett, Marjan M. 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 Sadiković, Han G. Brunner, Lisenka E.L.M. Vissers, Yoichi Shinkai, Tjitske Kleefstra