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

Author:

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

Funder

Simons Foundation

Netherlands Organisation for Scientific Research

Genome Canada

Brain and Behavior Research Foundation

National Human Genome Research Institute

NIH

Ministero della Salute

Publisher

Elsevier BV

Subject

Genetics (clinical),Genetics

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