De novo missense variants in LMBRD2 are associated with developmental and motor delays, brain structure abnormalities and dysmorphic features
Authors
Alka Malhotra # 1 , Alban Ziegler # 2 , Li Shu # 3 , Renee Perrier 4 , Louise Amlie-Wolf 5 , Elizabeth Wohler 6 , Nara Lygia de Macena Sobreira 6 , Estelle Colin 2 , Adeline Vanderver 7 8 , Omar Sherbini 7 , Katrien Stouffs 9 , Emmanuel Scalais 10 , Alessandro Serretti 11 , Magalie Barth 2 , Benjamin Navet 2 , Paul Rollier 2 , Hui Xi 3 , Hua Wang 3 , Hainan Zhang 12 , Denise L Perry 13 , Alessandra Ferrarini 14 , Roberto Colombo 15 , Alexander Pepler 16 17 , Adele Schneider 18 , Kiyotaka Tomiwa 19 , Nobuhiko Okamoto 20 , Naomichi Matsumoto 21 , Noriko Miyake 21 , Ryan Taft # 13 , Xiao Mao # 3 , Dominique Bonneau # 2
# Contributed equally.
- Illumina Inc, San Diego, California, USA amalhotra@illumina.com.
- Department of Biochemistry and Genetics, Angers University Hospital and UMR CNRS 6015-INSERM 1083, Angers, France.
- Maternal and Child Health Hospital of Hunan Province, Changsha, China.
- Department of Medical Genetics and Pediatrics, University of Calgary, Calgary, Alberta, Canada.
- Nemours A.I. Dupont Hospital for Children, Wilmington, Delaware, USA.
- McKusick-Nathans Department of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, Maryland, USA.
- Division of Neurology, Children’s Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.
- Department of Neurology, University of Pennsylvania Perelman School of Medicine, Philadelphia, Pennsylvania, USA.
- Centre for Medical Genetics, UZ Brussel, Brussels, Belgium.
- Division of Paediatric Neurology, Centre Hospitalier de Luxembourg, Luxembourg, Luxembourg.
- Department of Biomedical and NeuroMotor Sciences, Bologna University, Bologna, Italy.
- Department of Neurology, The Second Xiangya Hospital, Central South University, Hunan, China.
- Illumina Inc, San Diego, California, USA.
- Italian Hospital of Lugano and University of Lugano, Lugano, Switzerland.
- Center for the Study of Rare Hereditary Diseases, Catholic University and Policlinico Agostino Gemelli University Hospital, Milan, Italy.
- Praxis für Humangenetik, Tuebingen, Germany.
- CeGaT GmbH, Tubingen, Baden-Württemberg, Germany.
- Wills Eye Hospital, Philadelphia, Pennsylvania, USA.
- Todaiji Ryoiku Hospital for Children, Kyoto, Japan.
- Department of Medical Genetics, Osaka Women’s and Children’s Hospital, Izumi, Japan.
- Department of Human Genetics, Yokohama City University, Yokohama, Kanagawa, Japan.