Authors: Sprecher, Eli Ishida-Yamamoto, Akemi Miizrahi-Koren, Mordechai Rapaport, Debora Goldsher, Dorit Indelman, Margarita Topaz, Orit Chefetz, Ilana Keren, Hanni O'Brien, Timothy J. Bercovich, Dani Shalev, Stavit Geiger, Dan Bergman, Reuven Horowitz, Mia Mandel, Hanna

Citation: Sprecher, Eli et al., A Mutation in SNAP29, Coding for a SNARE Protein Involved in Intracellular Trafficking, Causes a Novel Neurocutaneous Syndrome Characterized by Cerebral Dysgenesis, Neuropathy, Ichthyosis, and Palmoplantar Keratoderma, American journal of human genetics , 77(2), 2005, pp. 242-251

Authors: Wigderson, Meir Firon, Nurit Horowitz, Zeev Wilder, Sylvia Frishberg, Yaakov Reiner, Orly Horowitz, Mia

Citation: Wigderson, Meir et al., Characterization of mutations in gaucher patients by cDNA cloning, American journal of human genetics , 44(3), 1989, pp. 365-377

Authors: Firon, Nurit Eyal, Nurit Kolodny, Edwin H. Horowitz, Mia

Citation: Firon, Nurit et al., Genotype assignment in gaucher disease by selective amplification of the active glucocerebrosidase gene, American journal of human genetics , 46-I(3), 1990, pp. 527-532

Authors: Grace, Marie E. Berg, Anat He, Guo-shun Goldberg, Lauren Horowitz, Mia Grabowski, Gregory A.

Citation: E. Grace, Marie et al., Gaucher disease: heterologous expression of two alleles associated with neuronopathic phenotypes., American journal of human genetics , 49-I(3), 1991, pp. 646-655