David Schapiro
Boston Children's Hospital(US)Harvard University(US)
Publications by Year
Research Areas
Renal Diseases and Glomerulopathies, Nasolacrimal Duct Obstruction Treatments, Renal and related cancers, Genetic and Kidney Cyst Diseases, Ion Transport and Channel Regulation
Most-Cited Works
- → Whole Exome Sequencing of Patients with Steroid-Resistant Nephrotic Syndrome(2017)228 cited
- → Mutations in KEOPS-complex genes cause nephrotic syndrome with primary microcephaly(2017)217 cited
- → Mutations in nuclear pore genes NUP93, NUP205 and XPO5 cause steroid-resistant nephrotic syndrome(2016)216 cited
- → Whole-Exome Sequencing Identifies Causative Mutations in Families with Congenital Anomalies of the Kidney and Urinary Tract(2018)205 cited
- → Mutations in sphingosine-1-phosphate lyase cause nephrosis with ichthyosis and adrenal insufficiency(2017)205 cited
- → Whole exome sequencing frequently detects a monogenic cause in early onset nephrolithiasis and nephrocalcinosis(2017)195 cited
- → Mutations in multiple components of the nuclear pore complex cause nephrotic syndrome(2018)140 cited
- → Mutations in six nephrosis genes delineate a pathogenic pathway amenable to treatment(2018)121 cited
- → Mutations in WDR4 as a new cause of Galloway–Mowat syndrome(2018)100 cited
- → GAPVD1 and ANKFY1 Mutations Implicate RAB5 Regulation in Nephrotic Syndrome(2018)67 cited