Orit Topaz

Mutations in GALNT3, encoding a protein involved in O-linked glycosylation, cause familial tumoral calcinosis

Orit Topaz, Daniel L. Shurman, Margarita Indelman et al. · Nature Genetics · 2004 · 589 citations · Full text

Tumor Biology, Somatic Variant, Medicine +7

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

Eli Sprecher, Akemi Ishida‐Yamamoto, Mordechai Mizrahi-Koren et al. · The American Journal of Human Genetics · 2005 · 197 citations · Full text

Snare Protein Involved, Neuromuscular Junction, Cerebral Dysgenesis +12

A novel homozygous missense mutation in FGF23 causes Familial Tumoral Calcinosis associated with disseminated visceral calcification

Ilana Chefetz, Raoul Heller, Assimina Galli‐Τsinopoulou et al. · Human Genetics · 2005 · 136 citations

Tumoral Pathology, Familial Tumoral Calcinosis, Pathology +6

A Deleterious Mutation in SAMD9 Causes Normophosphatemic Familial Tumoral Calcinosis

Orit Topaz, Margarita Indelman, Ilana Chefetz et al. · The American Journal of Human Genetics · 2006 · 135 citations · Full text

Deleterious Mutation, Somatic Variant, Genetic Disorder +10

Identification of a recurrent mutation in GALNT3 demonstrates that hyperostosis-hyperphosphatemia syndrome and familial tumoral calcinosis are allelic disorders

Yaacov Frishberg, Orit Topaz, Doron M. Behar et al. · Journal of Molecular Medicine · 2004 · 117 citations

Recurrent Mutation, Allelic Disorders, Genetic Disorder +6