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Paper Details

SPEN haploinsufficiency causes a neurodevelopmental disorder overlapping proximal 1p36 deletion syndrome with an episignature of X chromosomes in females.
Am J Hum Genet
45
2021
Author NameAffiliation
Francesca Clementina RadioIRCCS
Zhandong LiuBaylor College of Medicine
Taila HartleyChildren's Hospital of Eastern Ontario
Eric W KleeCenter for Individualized Medicine, Mayo Clinic
Angelo Selicorni
Romano TenconiUniversita di Padova
Sian EllardRoyal Devon & Exeter NHS Foundation Trust
Bert B A de Vriesthe Netherlands Donders Institute for Brain, Radboud University
Kym M BoycottChildren's Hospital of Eastern Ontario
Siddharth BankaUniversity of Manchester, St Mary's Hospital, Manchester University NHS Foundation Trust
Evan E EichlerUniversity of Washington School of Medicine, USA Howard Hughes Medical Institute, University of Washington
Evan E EichlerUniversity of Washington School of Medicine, USA Howard Hughes Medical Institute, University of Washington
Bruno DallapiccolaIRCCS
Marco TartagliaIRCCS
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Release 1.2