SPEN haploinsufficiency causes a neurodevelopmental disorder overlapping proximal 1p36 deletion syndrome with an episignature of X chromosomes in females
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
Collaborators: Azienda Socio Sanitaria Territoriale Lariana; Bambino Gesu Children's Hospital; Baylor College of Medicine; Beth Israel Deaconess Medical Center; Broad Institute of MIT and Harvard; Children's Hospital of Eastern Ontario Research Institute; Children's Hospital of Philadelphia; Children's Mercy Hospital Kansas City; CHU Amiens-Picardie; CHU Dijon Bourgogne; David Geffen School of Medicine, UCLA; Erasmus University Medical Center; GeneDx; Hospital das Clínicas da Universidade de São Paulo; Human Genetics Department, Radboud University Medical Center; Illumina Clinical Services Laboratory; Institute for Maternal and Child Health, IRCCS "Burlo Garofol"; Israel Institute of Technology; Istituto Superiore di Sanità; Karolinska University Hospital; Levine Children's Hospital Atrium Health; Maastricht University Medical Center; Mayo Clinic; McMaster University; Murdoch Childrens Research Institute; NYU Langone Long Island School of Medicine; Ospedale Papa Giovanni XXIII; Ospedale Pediatrico Bambino Gesù; Phoenix Children's Hospital; Radboudumc Nijmegen; Rambam Health Care Campus; Royal Devon and Exeter NHS Foundation Trust; Shodair Children's Hospital; Università di Padova; Université Claude Bernard Lyon 1; University of Alabama at Birmingham; University of Connecticut School of Medicine; University of Melbourne; University of Ottawa; University of Pittsburgh Medical Center (UPMC); University of Washington; University of Zurich; UOSD Genetica Medica del Grande Ospedale Metropolitano "Bianchi Melacrino Morelli" di Reggio Calabria