Stavit Shalev

Deficiency of UBR1, a ubiquitin ligase of the N-end rule pathway, causes pancreatic dysfunction, malformations and mental retardation (Johanson-Blizzard syndrome)

Martin Zenker, Julia Mayerle, Markus M. Lerch et al. · Nature Genetics · 2005 · 270 citations

Protein Quality Control, Autoimmune Disease, Genetics +7

A mutation in the saposin A coding region of the prosaposin gene in an infant presenting as Krabbe disease: first report of saposin A deficiency in humans

Ronen Spiegel, Gideon Bach, Vivi Sury et al. · Molecular Genetics and Metabolism · 2004 · 128 citations

Genetics, Pathogenesis, Saposin A +5

PREVENTION OF ? THALASSEMIA IN NORTHERN ISRAEL - A COST-BENEFIT ANALYSIS.

Ariel Koren, Lora Profeta, Luci Zalman et al. · Mediterranean Journal of Hematology and Infectious Diseases · 2014 · 70 citations · Full text

Hydrops fetalis: an unusual prenatal presentation of hereditary congenital lymphedema

Etty Daniel‐Spiegel, Arash Ghalamkarpour, Ronen Spiegel et al. · Prenatal Diagnosis · 2005 · 68 citations

Exome Sequencing Identifies INPPL1 Mutations as a Cause of Opsismodysplasia

Céline Huber, Eissa Faqeih, Deborah Bartholdi et al. · The American Journal of Human Genetics · 2012 · 55 citations · Full text

Somatic Variant, Mendelian Disorder, Genetic Disorder +7