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

Journal
AMERICAN JOURNAL OF HUMAN GENETICS
Author(s)
Gasparini Paolo Gruppo
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.
Dallapiccola Bruno
Tartaglia Marco
DOI
10.1016/j.ajhg.2021.01.015
Project(s)