Kang, Peter B.

Top Publications

Top Publications Authored or Co-Authored by "Kang, Peter B."

• 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
• A novel syndrome caused by the E410K amino acid substitution in the neuronal β-tubulin isotype 3

  Brain, Volume 136, No. 2, Year 2013, Citations 96
• The sensitivity of exome sequencing in identifying pathogenic mutations for LGMD in the United States

  Journal of Human Genetics, Volume 62, No. 2, Year 2017, Citations 75
• POMK mutations disrupt muscle development leading to a spectrum of neuromuscular presentations

  Human Molecular Genetics, Volume 23, No. 21, Year 2014, Citations 67
• A form of muscular dystrophy associated with pathogenic variants in JAG2

  American Journal of Human Genetics, Volume 108, No. 5, Year 2021, Citations 58