Burden re-analysis of neurodevelopmental disorder cohorts for prioritization of candidate genes

Source
European journal of human genetics - ISSN 1018-4813- (2024) p.
Author(s)
    Noor Smal, Fatma Majdoub, Katrien Janssens, Edwin Reyniers, Marije Meuwissen, Berten Ceulemans, Hope Northrup, Jeremy B. Hill, Lingying Liu, Edoardo Errichiello, Simone Gana, Alanna Strong, Luis Rohena, Rachel Franciskovich, Chaya N. Murali, An Huybrechs, Telma Sulem, Run Fridriksdottir, Patrick Sulem, Kari Stefansson, Yan Bai, Jill A. Rosenfeld, Seema R. Lalani, Haley Streff, Frank Kooy, Sarah Weckhuysen

Expanded phenotypic spectrum of neurodevelopmental and neurodegenerative disorder Bryant-Li-Bhoj syndrome with 38 additional individuals

Source
European journal of human genetics - ISSN 1018-4813-32 (2024) p. 928-937
Author(s)
    Dana E. Layo-Carris, Emily E. Lubin, Annabel K. Sangree, Kelly J. Clark, Emily L. Durham, Elizabeth M. Gonzalez, Sarina Smith, Rajesh Angireddy, Xiao Min Wang, Erin Weiss, Roberto Mendoza-Londono, Lucie Dupuis, Nadirah Damseh, Danita Velasco, Irene Valenzuela, Marta Codina-Solà, Catherine Ziats, Jaclyn Have, Katie Clarkson, Dora Steel, Manju Kurian, Katy Barwick, Diana Carrasco, Aditi I. Dagli, M.J.M. Nowaczyk, Miroslava Hančárová, Šárka Bendová, Darina Prchalova, Zdeněk Sedláček, Alica Baxová, Catherine Bearce Nowak, Jessica Douglas, Wendy K. Chung, Nicola Longo, Konrad Platzer, Chiara Klöckner, Luisa Averdunk, Dagmar Wieczorek, Ilona Krey, Christiane Zweier, Andre Reis, Tugce Balci, Marleen Simon, Hester Y. Kroes, Noor Smal, Sarah Weckhuysen, An-Sofie Schoonjans, Frank Kooy, Marije Meuwissen, Laura M. Bryant

Role of CAMK2D in neurodevelopment and associated conditions

Source
The American journal of human genetics - ISSN 0002-9297-111:2 (2024) p. 1-20
Author(s)
    Pomme M.F. Rigter, Charlotte de Konink, Matthew J. Dunn, Martina Proietti Onori, Jennifer B. Humberson, Matthew Thomas, Caitlin Barnes, Carlos E. Prada, K. Nicole Weaver, Thomas D. Ryan, Oana Caluseriu, Jennifer Conway, Emily Calamaro, Chin-To Fong, Wim Wuyts, Marije Meuwissen, Eva Hordijk, Carsten N. Jonkers, Lucas Anderson, Berfin Yuseinova, Sarah Polonia, Diane Beysen, Zornitza Stark, Elena Savva, Cathryn Poulton, Fiona McKenzie, Elizabeth Bhoj, Caleb P. Bupp, Stephane Bezieau, Sandra Mercier, Amy Blevins, Ingrid M. Wentzensen, Fan Xia, Jill A. Rosenfeld, Tzung-Chien Hsieh, Peter M. Krawitz, Miriam Elbracht, Danielle C.M. Veenma, Howard Schulman, Margaret M. Stratton, Sebastien Kury, Geeske M. van Woerden