SPEN haploinsufficiency causes a neurodevelopmental disorder overlapping proximal 1p36 deletion syndrome with an episignature of X chromosomes in females

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Date: July 20, 2023
Authors:
Francesca Clementina Radio, Kaifang Pang, Andrea Ciolfi, Michael A Levy, Andrés Hernández-García, Lucia Pedace, Francesca Pantaleoni, Zhandong Liu, Elke de Boer, Adam Jackson, Alessandro Bruselles, Haley McConkey, Emilia Stellacci, Stefania Lo Cicero, Marialetizia Motta, Rosalba Carrozzo, Maria Lisa Dentici, Kirsty McWalter, Megha Desai, Kristin G Monaghan, Aida Telegrafi, Christophe Philippe, Antonio Vitobello, Margaret Au, Katheryn Grand, Pedro A Sanchez-Lara, Joanne Baez, Kristin Lindstrom, Peggy Kulch, Jessica Sebastian, Suneeta Madan-Khetarpal, Chelsea Roadhouse, Jennifer J MacKenzie, Berrin Monteleone, Carol J Saunders, July K Jean Cuevas, Laura Cross, Dihong Zhou, Taila Hartley, Sarah L Sawyer, Fabíola Paoli Monteiro, Tania Vertemati Secches, Fernando Kok, Laura E Schultz-Rogers, Erica L Macke, Eva Morava, Eric W. Klee, Jennifer Kemppainen, Maria Iascone, Angelo Selicorni, Romano Tenconi, David J Amor, Lynn Pais, Lyndon Gallacher, Peter D Turnpenny, Karen Stals, Sian Ellard, Sara Cabet, Gaetan Lesca, Joset Pascal, Katharina Steindl, Sarit Ravid, Karin Weiss, Alison M R Castle, Melissa T Carter, Louisa Kalsner, Bert B.A. de Vries, Bregje W van Bon, Marijke R Wevers, Rolph Pfundt, Alexander P.A. Stegmann, Bronwyn Kerr, Helen M Kingston, Kate E Chandler, Willow Sheehan, Abdallah F. Elias, Deepali N. Shinde, Meghan C. Towne, Nathaniel H Robin, Dana Goodloe, Adeline Vanderver, Omar Sherbini, Krista Bluske, R Tanner Hagelstrom, Caterina Zanus, Flavio Faletra, Luciana Musante, Evangeline C Kurtz-Nelson, Rachel K Earl, Britt-Marie Anderlid, Gilles Morin, Marjon van Slegtenhorst, Karin E M Diderich, Alice S Brooks, Joost Gribnau, Ruben G Boers, Teresa Robert Finestra, Lauren B Carter, Anita Rauch, Paolo Gasparini, Kym M Boycott, Tahsin Stefan Barakat, John M Graham Jr, Laurence Faivre, Siddharth Banka, Tianyun Wang, Evan E. Eichler, Manuela Priolo, Bruno Dallapiccola, Lisenka E.L.M. Vissers, Bekim Sadikovic, Daryl A Scott, Jimmy Lloyd Holder Jr, Marco Tartaglia
Journal: American Journal of Human Genetics
Journal Volume: 108