Beggs, Alan H.

Top Publications

Top Publications Authored or Co-Authored by "Beggs, Alan H."

• Exome sequencing and functional validation in zebrafish identify GTDC2 mutations as a cause of walker-warburg syndrome

  American Journal of Human Genetics, Volume 91, No. 3, Year 2012, Citations 174
• Identification of KLHL41 mutations implicates BTB-Kelch-mediated ubiquitination as an alternate pathway to myofibrillar disruption in nemaline myopathy

  American Journal of Human Genetics, Volume 93, No. 6, Year 2013, Citations 150
• Mutation spectrum in the large gtpase dynamin 2, and genotype-phenotype correlation in autosomal dominant centronuclear myopathy

  Human Mutation, Volume 33, No. 6, Year 2012, Citations 116
• Genotype-phenotype correlation in the long-QT syndrome: Gene-specific triggers for life-threatening arrhythmias

  Circulation, Volume 103, No. 1, Year 2001, Citations 27