Darras, Basil T.

Top Publications

Top Publications Authored or Co-Authored by "Darras, Basil T."

• 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
• Defining the clinical, molecular and imaging spectrum of adaptor protein complex 4-associated hereditary spastic paraplegia

  Brain, Volume 143, No. 10, Year 2020, Citations 88
• 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
• Clinical, neuroimaging, and molecular spectrum of TECPR2-associated hereditary sensory and autonomic neuropathy with intellectual disability

  Human Mutation, Volume 42, No. 6, Year 2021, Citations 50