Division of Genetics and Genomics,
Manton Center for Orphan Disease Research,
Division of Genetics and Genomics, Manton Center for Orphan Disease Research
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A splice site mutation in laminin-α2 results in a severe muscular dystrophy and growth abnormalities in zebrafish.
PloS one , 2012 | Pubmed ID: 22952766
Exome sequencing and functional validation in zebrafish identify GTDC2 mutations as a cause of Walker-Warburg syndrome.
American journal of human genetics Sep, 2012 | Pubmed ID: 22958903
Loss of catalytically inactive lipid phosphatase myotubularin-related protein 12 impairs myotubularin stability and promotes centronuclear myopathy in zebrafish.
PLoS genetics Jun, 2013 | Pubmed ID: 23818870
Identification of KLHL41 Mutations Implicates BTB-Kelch-Mediated Ubiquitination as an Alternate Pathway to Myofibrillar Disruption in Nemaline Myopathy.
American journal of human genetics Dec, 2013 | Pubmed ID: 24268659
Boston Children's Hospital, Harvard Medical School
Laura L. Smith1,
Alan H. Beggs1,
Vandana A. Gupta1
1Division of Genetics and Genomics, Manton Center for Orphan Disease Research, Boston Children's Hospital, Harvard Medical School
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