Loss-of-function variants in SRRM2 cause a neurodevelopmental disorder
Silvestre Cuinat, Mathilde Nizon, Bertrand Isidor, Alexander Stegmann, Richard H van Jaarsveld, Koen L van Gassen, Jasper J van der Smagt, Catharina M L Volker-Touw, Sjoerd J B Holwerda, Paulien A Terhal, Sarah Schuhmann, Georgia Vasileiou, Mohamed Khalifa, Alaa A Nugud, Hemad Yasaei, Lilian Bomme Ousager, Charlotte Brasch-Andersen, Wallid Deb, Thomas Besnard, Marleen E H Simon, Karin Huijsdens-van Amsterdam, Nienke E Verbeek, Dena Matalon, Natalie Dykzeul, Shana White, Elizabeth Spiteri, Koen Devriendt, Anneleen Boogaerts, Marjolein Willemsen, Han G Brunner, Margje Sinnema, Bert B A De Vries, Erica H Gerkes, Rolph Pfundt, Kosuke Izumi, Ian D Krantz, Zhou L Xu, Jill R Murrell, Irene Valenzuela, Ivon Cusco, Eulàlia Rovira-Moreno, Yaping Yang, Varoona Bizaoui, Olivier Patat, Laurence Faivre, Frederic Tran-Mau-Them, Antonio Vitobello, Anne-Sophie Denommé-Pichon, Christophe Philippe, Stéphane Bezieau, Benjamin Cogné
Genetics in medicine : official journal of the American College of Medical Genetics, 2022, vol. 24, p.1774-1780
Further delineation of auriculocondylar syndrome based on 14 novel cases and reassessment of 25 published cases
Nancy Vegas, Zeynep Demir, Christopher T Gordon, Sylvain Breton, Vanessa L Romanelli Tavares, Hugo Moisset, Roseli Zechi-Ceide, Nancy M Kokitsu-Nakata, Yasuhiro Kido, Sandrine Marlin, Souad Gherbi Halem, Ilse Meerschaut, Bert Callewaert, Brian Chung, Nicole Revencu, Daphné Lehalle, Florence Petit, Evan J Propst, Blake C Papsin, John H Phillips, Linda Jakobsen, Pauline Le Tanno, Julien Thévenon, Julie McGaughran, Erica H Gerkes, Chiara Leoni, Peter Kroisel, Tiong Y Tan, Alex Henderson, Paulien Terhal, Lina Basel-Salmon, Adila Alkindy, Susan M White, Maria R Passos-Bueno, Véronique Pingault, Loïc De Pontual, Jeanne Amiel
Human mutation, 2022, vol. 43, p.582-594
TNPO2 variants associate with human developmental delays, neurologic deficits, and dysmorphic features and alter TNPO2 activity in Drosophila
Lindsey D Goodman, Heidi Cope, Zelha Nil, Thomas A Ravenscroft, Wu-Lin Charng, Shenzhao Lu, An-Chi Tien, Rolph Pfundt, David A Koolen, Charlotte A Haaxma, Hermine E Veenstra-Knol, Jolien S Klein Wassink-Ruiter, Marijke R Wevers, Melissa Jones, Laurence E Walsh, Victoria H Klee, Miel Theunis, Eric Legius, Dora Steel, Katy E S Barwick, Manju A Kurian, Shekeeb S Mohammad, Russell C Dale, Paulien A Terhal, Ellen van Binsbergen, Brian Kirmse, Bethany Robinette, Benjamin Cogné, Bertrand Isidor, Theresa A Grebe, Peggy Kulch, Bryan E Hainline, Katherine Sapp, Eva Morava, Eric W Klee, Erica L Macke, Pamela Trapane, Christopher Spencer, Yue Si, Amber Begtrup, Matthew J Moulton, Debdeep Dutta, Oguz Kanca, Michael F Wangler, Shinya Yamamoto, Hugo J Bellen, Queenie K-G Tan,
American Journal of Human Genetics, 2021, vol. 108, p.1669-1691
Biallelic variants in POLR3GL cause endosteal hyperostosis and oligodontia
Paulien A Terhal, Judith M Vlaar, Sjors Middelkamp, Rutger A J Nievelstein, Peter G J Nikkels, Jamila Ross, Marijn Créton, Jeroen W Bos, Elsbeth S M Voskuil-Kerkhof, Edwin Cuppen, Nine Knoers, Koen L I van Gassen
European Journal of Human Genetics, 2020, vol. 28, p.31-39
Characterization of SETD1A haploinsufficiency in humans and Drosophila defines a novel neurodevelopmental syndrome
Joost Kummeling, Diante E. Stremmelaar, Nicholas Raun, Margot R.F. Reijnders, Marjolein H. Willemsen, Martina Ruiterkamp-Versteeg, Marga Schepens, Calvin C.O. Man, Christian Gilissen, Megan T. Cho, Kirsty McWalter, Margje Sinnema, James W. Wheless, Marleen E.H. Simon, Casie A. Genetti, Alicia M. Casey, Paulien A. Terhal, Jasper J. van der Smagt, Koen L.I. van Gassen, Pascal Joset, Angela Bahr, Katharina Steindl, Anita Rauch, Elmar Keller, Annick Raas-Rothschild, David A. Koolen, Pankaj B. Agrawal, Trevor L. Hoffman, Nina N. Powell-Hamilton, Isabelle Thiffault, Kendra Engleman, Dihong Zhou, Olaf Bodamer, Julia Hoefele, Korbinian M. Riedhammer, Eva M.C. Schwaibold, Velibor Tasic, Dirk Schubert, Deniz Top, Rolph Pfundt, Martin R. Higgs, Jamie M. Kramer, Tjitske Kleefstra
Molecular Psychiatry, 2020, vol. 26, p.2013-2024
