Efrat Ben‐Shalom

Defective mitochondrial translation caused by a ribosomal protein (MRPS16) mutation

Chaya Miller, Ann Saada, Nava Shaul et al. · Annals of Neurology · 2004 · 228 citations

Mutations in DHDPSL Are Responsible For Primary Hyperoxaluria Type III

Ruth Belostotsky, Eric Seboun, Gregory H. Idelson et al. · The American Journal of Human Genetics · 2010 · 227 citations · Full text

Dhdpsl Are Responsible, Genetic Disorder, Genetics +7

Mutations in the Mitochondrial Seryl-tRNA Synthetase Cause Hyperuricemia, Pulmonary Hypertension, Renal Failure in Infancy and Alkalosis, HUPRA Syndrome

Ruth Belostotsky, Efrat Ben‐Shalom, Choni Rinat et al. · The American Journal of Human Genetics · 2011 · 180 citations · Full text

Urology, Mitochondrial Biogenesis, Mitochondrial Function +12

Dent’s disease manifesting as focal glomerulosclerosis: Is it the tip of the iceberg?

Yaacov Frishberg, Dganit Dinour, Ruth Belostotsky et al. · Pediatric Nephrology · 2009 · 78 citations

Glomerular Disease, Glomerulonephritis, Medicine +7

Phase 3 trial of lumasiran for primary hyperoxaluria type 1: A new RNAi therapeutic in infants and young children

David J. Sas, Daniella Magen, Wesley Hayes et al. · Genetics in Medicine · 2021 · 72 citations · Full text