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

Francesca Clementina Radio(Bambino Gesù Children's Hospital), Angelo Selicorni(University of Milan), Lucia Pedace(Bambino Gesù Children's Hospital), Zhandong Liu(Baylor College of Medicine), Erica L. Macke(Mayo Clinic), Adam Jackson(University of Manchester), Maria Iascone(Ospedale Papa Giovanni XXIII), Jennifer MacKenzie(McMaster Children's Hospital), Megha Desai, Maria Lisa Dentici(Casa Sollievo della Sofferenza), Rosalba Carrozzo(Bambino Gesù Children's Hospital), Alessandro Bruselles(Istituto Superiore di Sanità), Pedro A. Sanchez‐Lara(Cedars-Sinai Medical Center), Christophe Philippe(Inserm), Kaifang Pang(Baylor College of Medicine), Jessica Sebastian(Children's Hospital of Pittsburgh), Chelsea Roadhouse(McMaster Children's Hospital), Berrin Monteleone(Long Island University), Tania Vertemati Secches(Mendelics), Eric W. Klee(Mayo Clinic), Aida Telegrafi(GenVec), Laura Schultz‐Rogers(Mayo Clinic), Laura Cross(Children's Mercy Hospital), Sarah L. Sawyer(Children's Hospital of Eastern Ontario), Antonio Vitobello(Inserm), Joanne Baez(Cedars-Sinai Medical Center), Fernando Kok(Universidade de São Paulo), Andrea Ciolfi(Bambino Gesù Children's Hospital), Peggy Kulch(Phoenix Children's Hospital), Taila Hartley(University of Ottawa), Marialetizia Motta(Bambino Gesù Children's Hospital), Elke de Boer(Radboud University Nijmegen), Éva Morava(Mayo Clinic), Emilia Stellacci(Istituto Superiore di Sanità), Michael A. Levy(Western University), Fabíola Paoli Monteiro(Mendelics), Suneeta Madan‐Khetarpal(Children's Hospital of Pittsburgh), Stefania Lo Cicero(Istituto Superiore di Sanità), Katheryn Grand(Cedars-Sinai Medical Center), Kirsty McWalter, Jennifer L. Kemppainen(Mayo Clinic), Margaret Au(University of Kentucky HealthCare), July K. Jean Cuevas(Children's Mercy Hospital), Kristin G. Monaghan, Andrés Hernández(Baylor College of Medicine), Haley McConkey(Western University), Carol J. Saunders(Children's Mercy Hospital), Dihong Zhou(Children's Mercy Hospital), Kristin Lindstrom(Phoenix Children's Hospital), Francesca Pantaleoni(Istituto Superiore di Sanità)
The American Journal of Human Genetics
February 16, 2021
Cited by 90


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