Channa Maayan

Tissue-Specific Expression of a Splicing Mutation in the Gene Causes Familial Dysautonomia

Susan A. Slaugenhaupt, Anat Blumenfeld, Sandra Gill et al. · The American Journal of Human Genetics · 2001 · 595 citations · Full text

Life Sciences, Genetics, Molecular Genetics +16

Localization of the gene for familial dysautonomia on chromosome 9 and definition of DNA markers for genetic diagnosis

Anat Blumenfeld, Susan A. Slaugenhaupt, Felicia B. Axelrod et al. · Nature Genetics · 1993 · 149 citations

Life Sciences, Genetics, Molecular Genetics +17

Hereditary sensory autonomic neuropathy caused by a mutation in dystonin

Simon Edvardson, Yuval Cinnamon, Chaim Jalas et al. · Annals of Neurology · 2012 · 144 citations

Life Sciences, Genetics, Neurology +16

Tissue-Specific Reduction in Splicing Efficiency of IKBKAP Due to the Major Mutation Associated with Familial Dysautonomia

Math P. Cuajungco, Maire Leyne, James Mull et al. · The American Journal of Human Genetics · 2003 · 140 citations · Full text

Life Sciences, Genetics, Molecular Genetics +12

Survival in familial dysautonomia: Impact of early intervention

Felicia B. Axelrod, Judith D. Goldberg, Xiang Y. Ye et al. · The Journal of Pediatrics · 2002 · 87 citations

Life Sciences, Genetics, Early Intervention +5