Katrina A. Diaz
Publications by Year
Research Areas
Genetic and Kidney Cyst Diseases, Renal and related cancers, Cystic Fibrosis Research Advances, Genetic Syndromes and Imprinting, Musculoskeletal pain and rehabilitation
Most-Cited Works
- → Amphotericin forms an extramembranous and fungicidal sterol sponge(2014)499 cited
- → FAN1 mutations cause karyomegalic interstitial nephritis, linking chronic kidney failure to defective DNA damage repair(2012)238 cited
- → Identification of 99 novel mutations in a worldwide cohort of 1,056 patients with a nephronophthisis-related ciliopathy(2013)234 cited
- → ARHGDIA mutations cause nephrotic syndrome via defective RHO GTPase signaling(2013)229 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
- → 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
- → Whole-exome resequencing distinguishes cystic kidney diseases from phenocopies in renal ciliopathies(2013)72 cited
- → Restored Physiology in Protein-Deficient Yeast by a Small Molecule Channel(2015)27 cited