Alan H. Beggs

Sir Edwin & Lady Manton Professor of Pediatrics

300 Longwood Ave
Boston, MA 02115

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An international effort towards developing standards for best practices in analysis, interpretation and reporting of clinical genome sequencing results in the CLARITY Challenge.
Novel Mutations Widen the Phenotypic Spectrum of Slow Skeletal/β-Cardiac Myosin (MYH7) Distal Myopathy.
A compound heterozygous mutation in GPD1 causes hepatomegaly, steatohepatitis, and hypertriglyceridemia.
Bridging integrator 1 (Bin1) deficiency in zebrafish results in centronuclear myopathy.
Approach to the diagnosis of congenital myopathies.
Gene therapy prolongs survival and restores function in murine and canine models of myotubular myopathy.

Division of Genetics and Genomics
Boston Children's Hospital
300 Longwood Ave.
Boston, MA 02115
beggs@enders.tch.harvard.edu

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