Variants in GNAI1 cause a syndrome associated with variable features including developmental delay, seizures, and hypotonia

Alison M. Muir, Jennifer F. Gardner, Richard H. van Jaarsveld, Iris M. de Lange, Jasper J. van der Smagt, Golder N. Wilson, Holly Dubbs, Ethan M. Goldberg, Lia Zitano, Caleb Bupp, Jose Martinez, Myriam Srour, Andrea Accogli, Afnan Alhakeem, Meira Meltzer, Andrea Gropman, Carole Brewer, Richard C. Caswell, Tara Montgomery, Caoimhe McKennaShane McKee, Corinna Powell, Pradeep C. Vasudevan, Angela F. Brady, Shelagh Joss, Carolyn Tysoe, Grace Noh, Mark Tarnopolsky, Lauren Brady, Muhammad Zafar, Samantha A. Schrier Vergano, Brianna Murray, Lindsey Sawyer, Bryan E. Hainline, Katherine Sapp, Danielle DeMarzo, Darcy J. Huismann, Ingrid M. Wentzensen, Rhonda E. Schnur, Kristin G. Monaghan, Jane Juusola, Lindsay Rhodes, William B. Dobyns, Francois Lecoquierre, Alice Goldenberg, Tilman Polster, Susanne Axer-Schaefer, Konrad Platzer, Chiara Klöckner, Trevor L. Hoffman, Daniel G. MacArthur, Melanie C. O’Leary, Grace E. VanNoy, Eleina England, Vinod C. Varghese, Heather C. Mefford

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Biochemistry, Genetics and Molecular Biology