SPEN deficiency contributes to the development of orofacial clefts in humans and mice
Bum Jun Kim, Andrés Hernández-García, David L Curtis, Olivia Thompson, Neena Champaigne, Manuela Priolo, Francesca Clementina Radio, Marco Tartaglia, Muge Gucsavas-Calikoglu, Yael Shiloh-Malawsky, Yezmin Perilla-Young, Sarah Josephi-Taylor, Adam M Bournazos, Sandra T Cooper, Koen van Gassen, Marie-José van den Boogaard, Yunus H Ozekin, Emily Anne Bates, Natee Kongchan, Chih-Wei Hsu, Daryl A Scott
Human molecular genetics, 2026, vol. 35
New genotype-phenotype correlations and management recommendations for individuals with RERE variants
David Curtis, Xiaonan Zhao, Nichole M. Owen, Mahshid S. Azamian, Seema R. Lalani, Kierstin Keller, Alanna Strong, Joseph Shen, Colette DeFilippo, Himanshu Goel, Betsy Schmalz, Bimal P. Chaudhari, Shelagh Joss, Muge Gucsavas-Calikoglu, Yael Shiloh-Malawsky, Yezmin Perilla-Young, Olivia Thompson, Neena Champaigne, Luigi Chiriatti, Marco Ferilli, Marco Tartaglia, Manuela Priolo, Francesca Clementina Radio, Christelle Moufawad El Achkar, Rozalia Valentine, Koen L.I. van Gassen, Marie José H. Van den Boogaard, Tony Roscioli, Hannes Syryn, Martine Cools, Elfride De Baere, Gabriela M. Repetto, Hannah Massey, Yasemin Alanay, Ozlem Akgun-Dogan, Sarah Josephi-Taylor, Adam M. Bournazos, Sandra T. Cooper, Victor Faundes, Daryl A. Scott
Genetics in Medicine, 2026, vol. 28
Timeline of Amelogenesis Imperfecta Management
Alexandra Jimenez-Armijo, Paola L Carvajal Monroy, Saranda Ombashi, Willem M M Fennis, Jamila N Ross, Marie-Jose H Van Den Boogaard, Marijn A Creton, Dominique Declerck, Xenia Hermann, Sophie Jung, Ariane Berdal, Benjamin Fournier, Isaac Maximiliano Bugueno, Edwin Ongkosuwito, Agnès Bloch-Zupan
The Journal of Craniofacial Surgery, 2025, vol. 36, p.2921-2925
CUL3-related neurodevelopmental disorder
Liselot van der Laan, Ananília Silva, Lotte Kleinendorst, Kathleen Rooney, Sadegheh Haghshenas, Peter Lauffer, Yasemin Alanay, Pratibha Bhai, Alfredo Brusco, Sonja de Munnik, Bert B.A. de Vries, Angelica Delgado Vega, Marc Engelen, Saskia Hopman, Johanna C. Herkert, Ron Hochstenbach, Sarina G. Kant, Ryutaro Kira, Mitsuhiro Kato, Boris Keren, Hester Y. Kroes, Michael A. Levy, Ngu Lock-Hock, Saskia M. Maas, Grazia M.S. Mancini, Carlo Marcelis, Naomichi Matsumoto, Takeshi Mizuguchi, Alessandro Mussa, Cyril Mignot, Anu Närhi, Ann Nordgren, Rolph Pfundt, Abeltje M. Polstra, Slavica Trajkova, Yolande van Bever, Marie José van den Boogaard, Jasper J. van der Smagt, Tahsin Stefan Barakat, Mariëlle Alders, Marcel M.A.M. Mannens, Bekim Sadikovic, Mieke M. van Haelst, Peter Henneman
Human Genetics and Genomics Advances, 2025, vol. 6
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
A Genotype/Phenotype Study of KDM5B-Associated Disorders Suggests a Pathogenic Effect of Dominantly Inherited Missense Variants
Maria Carla Borroto, Coralie Michaud, Chloé Hudon, Pankaj B. Agrawal, Katherine Agre, Carolyn D. Applegate, Alan H. Beggs, Hans T. Bjornsson, Bert Callewaert, Mei Jan Chen, Cynthia Curry, Orrin Devinsky, Tracy Dudding-Byth, Kelly Fagan, Candice R. Finnila, Ralitza Gavrilova, Casie A. Genetti, Susan M. Hiatt, Friedhelm Hildebrandt, Monica H. Wojcik, Tjitske Kleefstra, Caroline M. Kolvenbach, Bruce R. Korf, Paul Kruszka, Hong Li, Jessica Litwin, Julien Marcadier, Konrad Platzer, Patrick R. Blackburn, Margot R.F. Reijnders, Heiko Reutter, Ina Schanze, Joseph T. Shieh, Cathy A. Stevens, Zaheer Valivullah, Marie José van den Boogaard, Eric W. Klee, Philippe M. Campeau
Genes, 2024, vol. 15
