MARK2 variants cause autism spectrum disorder via the downregulation of WNT/β-catenin signaling pathway
Maolei Gong, Jiayi Li, Zailong Qin, Matheus Vernet Machado Bressan Wilke, Yijun Liu, Qian Li, Haoran Liu, Chen Liang, Joel A. Morales-Rosado, Ana S.A. Cohen, Susan S. Hughes, Bonnie R. Sullivan, Valerie Waddell, Marie José H. van den Boogaard, Richard H. van Jaarsveld, Ellen van Binsbergen, Koen L. van Gassen, Tianyun Wang, Susan M. Hiatt, Michelle D. Amaral, Whitley V. Kelley, Jianbo Zhao, Weixing Feng, Changhong Ren, Yazhen Yu, Nicole J. Boczek, Matthew J. Ferber, Carrie Lahner, Sherr Elliott, Yiyan Ruan, Cyril Mignot, Boris Keren, Hua Xie, Xiaoyan Wang, Bernt Popp, Christiane Zweier, Juliette Piard, Christine Coubes, Frederic Tran Mau-Them, Hana Safraou, A. Micheil Innes, Julie Gauthier, Jacques L. Michaud, Daniel C. Koboldt, Odent Sylvie, Marjolaine Willems, Wen Hann Tan, Benjamin Cogne, Claudine Rieubland, Dominique Braun, Scott Douglas McLean, Konrad Platzer, Pia Zacher, Henry Oppermann, Lucie Evenepoel, Pierre Blanc, Laïla El Khattabi, Neshatul Haque, Nikita R. Dsouza, Michael T. Zimmermann, Raul Urrutia, Eric W. Klee, Yiping Shen, Hongzhen Du, Leonard Rappaport, Chang Mei Liu, Xiaoli Chen
American Journal of Human Genetics, 2024, vol. 111, p.2392-2410
Craniotubular Dysplasia Ikegawa Type
Babeth van Ommeren, Maud Hoekstra, Koen van Gassen, Richard van Jaarsveld, Gijs van Haaften, Irene Mathijssen, Ruben Dammers, Marie Lise van Veelen, Rolanda Baars, Jacques C Giltay
American Journal of Medical Genetics, Part A, 2024, vol. 197
PSMC3 proteasome subunit variants are associated with neurodevelopmental delay and type I interferon production
Frédéric Ebstein, Sébastien Küry, Victoria Most, Cory Rosenfelt, Marie-Pier Scott-Boyer, Geeske M van Woerden, Thomas Besnard, Jonas Johannes Papendorf, Maja Studencka-Turski, Tianyun Wang, Tzung-Chien Hsieh, Richard Golnik, Dustin Baldridge, Cara Forster, Charlotte de Konink, Selina M W Teurlings, Virginie Vignard, Richard H van Jaarsveld, Lesley Ades, Benjamin Cogné, Cyril Mignot, Wallid Deb, Marjolijn C J Jongmans, F Sessions Cole, Marie-José H van den Boogaard, Jennifer A Wambach, Daniel J Wegner, Sandra Yang, Vickie Hannig, Jennifer Ann Brault, Neda Zadeh, Bruce Bennetts, Boris Keren, Anne-Claire Gélineau, Zöe Powis, Meghan Towne, Kristine Bachman, Andrea Seeley, Anita E Beck, Jennifer Morrison, Rachel Westman, Kelly Averill, Theresa Brunet, Judith Haasters, Melissa T Carter, Matthew Osmond, Patricia G Wheeler, Francesca Forzano, Shehla Mohammed, Yannis Trakadis, Andrea Accogli, Rachel Harrison, Yiran Guo, Hakon Hakonarson, Sophie Rondeau, Geneviève Baujat, Giulia Barcia, René Günther Feichtinger, Johannes Adalbert Mayr, Martin Preisel, Frédéric Laumonnier, Tilmann Kallinich, Alexej Knaus, Bertrand Isidor, Peter Krawitz, Uwe Völker, Elke Hammer, Arnaud Droit, Evan E Eichler, Ype Elgersma, Peter W Hildebrand, François Bolduc, Elke Krüger, Stéphane Bézieau
Science translational medicine, 2023, vol. 15
The clinical and molecular spectrum of the KDM6B-related neurodevelopmental disorder
Dmitrijs Rots, Taryn E Jakub, Crystal Keung, Adam Jackson, Siddharth Banka, Rolph Pfundt, Bert B A de Vries, Richard H van Jaarsveld, Saskia M J Hopman, Ellen van Binsbergen, Irene Valenzuela, Maja Hempel, Tatjana Bierhals, Fanny Kortüm, Francois Lecoquierre, Alice Goldenberg, Jens Michael Hertz, Charlotte Brasch Andersen, Maria Kibæk, Eloise J Prijoles, Roger E Stevenson, David B Everman, Wesley G Patterson, Linyan Meng, Charul Gijavanekar, Karl De Dios, Shenela Lakhani, Tess Levy, Matias Wagner, Dagmar Wieczorek, Paul J Benke, María Soledad Lopez Garcia, Renee Perrier, Sergio B Sousa, Pedro M Almeida, Maria José Simões, Bertrand Isidor, Wallid Deb, Andrew A Schmanski, Omar Abdul-Rahman, Christophe Philippe, Ange-Line Bruel, Laurence Faivre, Antonio Vitobello, Christel Thauvin, Jeroen J Smits, Livia Garavelli, Stefano G Caraffi, Francesca Peluso, Daniëlle G M Bosch,
American Journal of Human Genetics, 2023, vol. 110, p.963-978
