Margarita Indelman

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

SERKAL Syndrome: An Autosomal-Recessive Disorder Caused by a Loss-of-Function Mutation in WNT4

Hannah Mandel, Revital Shemer, Zvi Borochowitz et al. · The American Journal of Human Genetics · 2008 · 277 citations · Full text

Developmental Anomaly, Clinical Disorders, Loss-of-function Mutation +9

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

Autosomal Recessive Ichthyosis with Hypotrichosis Caused by a Mutation in ST14, Encoding Type II Transmembrane Serine Protease Matriptase

Lina Basel‐Vanagaite, Revital Attia, Akemi Ishida‐Yamamoto et al. · The American Journal of Human Genetics · 2007 · 188 citations · Full text

Autosomal Recessive Ichthyosis, Medicine, Genetics +5

Detection of a chromosomal region with two quantitative trait loci, affecting cold tolerance and fish size, in an F2 tilapia hybrid

Avner Cnaani, Eric M. Hallerman, Micha Ron et al. · Aquaculture · 2003 · 146 citations

Biology, Genetic Diversity, Quantitative Genetics +12