SPEN Haploinsufficiency Causes a Neurodevelopmental Disorder Overlapping Proximal 1p36 Deletion Syndrome with an Episignature of X Chromosomes in Females Francesca Clementina Radio , Kaifang Pang , Andrea Ciolfi , Michael A. Levy , Lucia Pedace , Elke de Boer , Adam Jackson , Emilia Stellacci , Stefania Lo Cicero , Maria Lisa Dentici , Kirsty McWalter , Pedro A. Sanchez-Lara , Kristin Lindstrom , Suneeta Madan-Khetarpal , Jennifer J. MacKenzie , Berrin Monteleone , Dihong Zhou , Sarah L. Sawyer , Fabiola Paoli Monteiro , Erica L. Macke , Maria Iascone , Angelo Selicorni , Romano Tenconi , David J. Amor , Karen Stals , Sara Cabet , Katharina Steindl , Karin Weiss , Alison M. R. Castle , Louisa Kalsner , Kate E. Chandler , Willow Sheehan , Deepali N. Shinde , Dana Goodloe , Krista Bluske , Flavio Faletra , Evangeline C. Kurtz-Nelson , Britt-Marie Anderlid , Tahsin Stefan Barakat , John M. Graham , Laurence Faivre , Siddharth Banka , Tianyun Wang , Manuela Priolo , Bruno Dallapiccola , Lisenka E. L. M. Vissers , Bekim Sadikovic , Daryl A. Scott , Jimmy Lloyd Holder , Marco Tartaglia American journal of human genetics（2021）
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