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Human Molecular Genetics|January 8, 2004
Rescue of a human mRNA splicing defect by the plant cytokinin kinetinSusan A Slaugenhaupt, James Mull, Maire Leyne, et al.American Journal of Human Genetics|February 11, 2003
Tissue-specific reduction in splicing efficiency of IKBKAP due to the major mutation associated with familial dysautonomiaMath P Cuajungco, Maire Leyne, James Mull, et al.American Journal of Medical Genetics. Part A|April 11, 2003
Identification of the first non-Jewish mutation in familial DysautonomiaMaire Leyne, James Mull, Sandra P Gill, et al.Journal of Molecular Medicine (Berlin, Germany)|January 9, 2007
Therapeutic potential and mechanism of kinetin as a treatment for the human splicing disease familial dysautonomiaMatthew M Hims, El Chérif Ibrahim, Maire Leyne, et al.Nature|August 11, 2015
Mutations in DCHS1 cause mitral valve prolapseRonen Durst, Kimberly Sauls, David S Peal, et al.Science Translational Medicine|May 24, 2019
Primary cilia defects causing mitral valve prolapseKatelynn A Toomer, Mengyao Yu, Diana Fulmer, et al.Pageof 2