Yaacov Frishberg

Lumasiran, an RNAi Therapeutic for Primary Hyperoxaluria Type 1

Sander F. Garrelfs, Yaacov Frishberg, Sally A. Hulton et al. · New England Journal of Medicine · 2021 · 495 citations · Full text

Medicine, Molecular Biology, Molecular Genetics +10

ARHGDIA mutations cause nephrotic syndrome via defective RHO GTPase signaling

Heon Yung Gee, Pawaree Saisawat, Shazia Ashraf et al. · Journal of Clinical Investigation · 2013 · 237 citations · Full text

Medicine, Genetics, Molecular Genetics +17

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 · 231 citations · Full text

Life Sciences, Genetics, Molecular Genetics +4

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 · 181 citations · Full text

Life Sciences, Genetics, Molecular Genetics +14

Hyperostosis–Hyperphosphatemia Syndrome: A Congenital Disorder of <i>O</i>-Glycosylation Associated With Augmented Processing of Fibroblast Growth Factor 23

Yaacov Frishberg, Nobuaki Ito, Choni Rinat et al. · Journal of Bone and Mineral Research · 2006 · 164 citations

Medicine, Endocrinology, Molecular Medicine +17