Study Description

The purpose of this study is to identify new genetic causes of neurodevelopmental diseases (NDDs) in the Joubert syndrome (JS) spectrum.... Show More

Study Accession Alternative Stable ID type
phs000382.v1.p1 dbGaP Cohort; Family; Exome Sequencing

Who controls access to this study

National Institute of Neurological Disorders and Stroke
Access information:

Publications

20512146
20637498
19668216
19058225
21679365
16453322
18674751
20232449
19764032
17564967
21263138
15467982
20081859
15786477
18565097

Pages

Data provider(s)

  • Title Name Institute
    Principal Investigator Joseph G. Gleeson, MD University of California, San Diego, CA, and Department of Neuroscience, Howard Hughes Medical Institute, USA
    Funding Source RNS048453B "Molecular Characterization of Joubert Syndrome" National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD, USA
    Sequencing Center Center for Inherited Disease Research (CIDR) Johns Hopkins University, Baltimore, MD, USA
    Funding Source for Sequencing HHSN268201100011I National Institutes of Health, Bethesda, MD, USA
    Funding Source for Sequencing HHSN268200782096C National Institutes of Health, Bethesda, MD, USA

Who archives the data?

The database of Genotypes and Phenotypes (dbGaP)