Work

Haploinsufficiency of KDM6A is associated with severe psychomotor retardation, global growth restriction, seizures and cleft palate

Year: 2013

Type: article

Source: Human Genetics

DOI: 10.1007/s00439-013-1263-x

Authors: Amelia M. Lindgren, Tatiana Hoyos, Michael E. Talkowski, Carrie Hanscom, Ian Blumenthal, Colby Chiang, Carl Ernst, Shahrin Pereira, Zehra Ordulu, Carol Clericuzio, Joanne M. Drautz, Jill A. Rosenfeld, Lisa G. Shaffer, Lea Velsher, Tania Pynn, Joris Vermeesch, David J. Harris, James F. Gusella, Eric C. Liao, Cynthia C. Morton

Institutions: Brigham and Women's Hospital, Harvard University, Massachusetts General Hospital, Harvard Stem Cell Institute, Broad Institute, University of New Mexico, KU Leuven, Boston Children's Hospital, Autism Consortium

Language: English

Topic: Genetics and Neurodevelopmental Disorders

Subfield: Genetics

Field: Biochemistry, Genetics and Molecular Biology

Domain: Life Sciences

SDG: Good health and well-being

Open Access status: green

Funders: National Institute of Mental Health, National Cancer Institute, National Institute of General Medical Sciences, Eunice Kennedy Shriver National Institute of Child Health and Human Development

Awards: G1126345087, G198446568, G201353827, G4561983161, Complex Genetic Architecture of Chromosomal Aberrations in Autism, Genes disrupted by balanced genomic rearrangements in autism spectrum disorders, Complex Genetic Architecture of Chromosomal Aberrations in Autism

OpenAlex ID: W2051020333

FWCI: 3.84

Cites: 72

Cited by: 73

Related to: 10