Work

De novo somatic mutations in components of the PI3K-AKT3-mTOR pathway cause hemimegalencephaly

Year: 2012

Type: article

Study design: Observational Study

Source: Nature Genetics

DOI: 10.1038/ng.2329

Authors: Jeong Ho Lee, My Huynh, Jennifer L Silhavy, Sangwoo Kim, Tracy Dixon-Salazar, Andrew Heiberg, Eric Scott, Vineet Bafna, Kiley J Hill, Adrienne Collazo, Vincent Funari, Carsten Russ, Stacey B Gabriel, Gary W Mathern, Joseph G Gleeson

Institutions: University of California San Diego, Rady Children's Hospital-San Diego, Rady Children's Institute for Genomic Medicine, University of California, Los Angeles, Mattel Children's Hospital, Howard Hughes Medical Institute, Cedars-Sinai Medical Center, Broad Institute

Language: English

Topic: Fetal and Pediatric Neurological Disorders

Subfield: Pediatrics, Perinatology and Child Health

Field: Medicine

Domain: Health Sciences

SDG: Good health and well-being

Open Access status: green

Funders: Howard Hughes Medical Institute, University of California, San Diego, National Human Genome Research Institute, National Institute of Neurological Disorders and Stroke, Eunice Kennedy Shriver National Institute of Child Health and Human Development

Awards: Doublecortin in Neuronal Migration, Molecular Characterization of Joubert Syndrome, Large Scale Sequencing and Analysis of Genomes, Jouberin and Nephrocystin in Joubert Syndrome, Pathophysiology of Developing Dysplastic Human Cortex, University of California San Diego Neuroscience Microscopy Imaging Core, Molecular characterization of Hemimegalencephaly, Developmental Mechanisms of Human Structural Brain Defects

OpenAlex ID: W2079701909

FWCI: 58.67

Cites: 42

Cited by: 710

Related to: 10