Krause, Amanda

Top Publications

Top Publications Authored or Co-Authored by "Krause, Amanda"

• Mutations in TMEM216 perturb ciliogenesis and cause Joubert, Meckel and related syndromes

  Nature Genetics, Volume 42, No. 7, Year 2010, Citations 265
• Lactase haplotype diversity in the old world

  American Journal of Human Genetics, Volume 68, No. 1, Year 2001, Citations 186
• Mutations in B3GALNT2 cause congenital muscular dystrophy and hypoglycosylation of α-dystroglycan

  American Journal of Human Genetics, Volume 92, No. 3, Year 2013, Citations 170
• 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
• Huntington's disease-like 2 (HDL2) in North America and Japan

  Annals of Neurology, Volume 56, No. 5, Year 2004, Citations 96