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Paper Details

A homozygous founder mutation in <i>TRAPPC6B</i> associates with a neurodevelopmental disorder characterised by microcephaly, epilepsy and autistic features.
J Med Genet
34
2018
Author NameAffiliation
Gaia NovarinoHoward Hughes Medical Institute, The Rockefeller University
Gaia NovarinoInstitute of Science and Technology Austria (IST)
Anide JohansenHoward Hughes Medical Institute, University of California
Anide JohansenRady Children's Institute for Genomic Medicine, Rady Children's Hospital
Basak RostiHoward Hughes Medical Institute, The Rockefeller University
Basak RostiHoward Hughes Medical Institute, University of California
Basak RostiRady Children's Institute for Genomic Medicine, Rady Children's Hospital
Mahmoud Y IssaNational Research Centre
Eric ScottHoward Hughes Medical Institute, University of California
Eric ScottRady Children's Institute for Genomic Medicine, Rady Children's Hospital
Jennifer L SilhavyHoward Hughes Medical Institute, University of California
Jennifer L SilhavyRady Children's Institute for Genomic Medicine, Rady Children's Hospital
Rasim O RostiHoward Hughes Medical Institute, The Rockefeller University
Rasim O RostiHoward Hughes Medical Institute, University of California
Rasim O RostiRady Children's Institute for Genomic Medicine, Rady Children's Hospital
Maha S ZakiNational Research Centre
Joseph G GleesonHoward Hughes Medical Institute, The Rockefeller University
Joseph G GleesonHoward Hughes Medical Institute, University of California
Joseph G GleesonRady Children's Institute for Genomic Medicine, Rady Children's Hospital
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