Jonathan D. Porath
Trinity Health(US)University of Michigan(US)
Publications by Year
Research Areas
Genetic and Kidney Cyst Diseases, Renal and related cancers, Healthcare cost, quality, practices, Epigenetics and DNA Methylation, Cystic Fibrosis Research Advances
Most-Cited Works
- → Fourteen Monogenic Genes Account for 15% of Nephrolithiasis/Nephrocalcinosis(2014)240 cited
- → Identification of 99 novel mutations in a worldwide cohort of 1,056 patients with a nephronophthisis-related ciliopathy(2013)234 cited
- → Defects in the IFT-B Component IFT172 Cause Jeune and Mainzer-Saldino Syndromes in Humans(2013)226 cited
- → ZMYND10 Is Mutated in Primary Ciliary Dyskinesia and Interacts with LRRC6(2013)201 cited
- → Zebrafish Ciliopathy Screen Plus Human Mutational Analysis Identifies C21orf59 and CCDC65 Defects as Causing Primary Ciliary Dyskinesia(2013)200 cited
- → Mutations in SPAG1 Cause Primary Ciliary Dyskinesia Associated with Defective Outer and Inner Dynein Arms(2013)145 cited
- → FAT1 mutations cause a glomerulotubular nephropathy(2016)129 cited
- → DCDC2 Mutations Cause a Renal-Hepatic Ciliopathy by Disrupting Wnt Signaling(2014)119 cited
- → High-throughput mutation analysis in patients with a nephronophthisis-associated ciliopathy applying multiplexed barcoded array-based PCR amplification and next-generation sequencing(2012)110 cited
- → Mutations of CEP83 Cause Infantile Nephronophthisis and Intellectual Disability(2014)108 cited