# Edgar A. Otto

**Type:** Researchers  
**Canonical URL:** https://scholariq.org/researchers/edgar-a-otto/

## Facts

| Field | Value |
| --- | --- |
| Citations | 21,373 |
| Field | Genetic and Kidney Cyst Diseases |
| h-index | 80 |
| i10-index | 151 |
| Last Known Institution | University of Michigan |
| OpenAlex ID | https://openalex.org/A5064586974 |
| ORCID iD | https://orcid.org/0000-0002-2387-9973 |
| Works | 248 |

## Researcher papers

Showing 12 of 25.

- [An atlas of healthy and injured cell states and niches in the human kidney](https://scholariq.org/papers/an-atlas-of-healthy-and-injured-cell-states-and-niches-in-the-human-kidney/)
- [Mutations in INVS encoding inversin cause nephronophthisis type 2, linking renal cystic disease to the function of primary cilia and left-right axis determination](https://scholariq.org/papers/mutations-in-invs-encoding-inversin-cause-nephronophthisis-type-2-linking-renal/)
- [The centrosomal protein nephrocystin-6 is mutated in Joubert syndrome and activates transcription factor ATF4](https://scholariq.org/papers/the-centrosomal-protein-nephrocystin-6-is-mutated-in-joubert-syndrome-and/)
- [Positional cloning uncovers mutations in PLCE1 responsible for a nephrotic syndrome variant that may be reversible](https://scholariq.org/papers/positional-cloning-uncovers-mutations-in-plce1-responsible-for-a-nephrotic/)
- [Mutation of BSND causes Bartter syndrome with sensorineural deafness and kidney failure](https://scholariq.org/papers/mutation-of-bsnd-causes-bartter-syndrome-with-sensorineural-deafness-and-kidney/)
- [Nephrocystin-5, a ciliary IQ domain protein, is mutated in Senior-Loken syndrome and interacts with RPGR and calmodulin](https://scholariq.org/papers/nephrocystin-5-a-ciliary-iq-domain-protein-is-mutated-in-senior-loken-syndrome/)
- [Exome Capture Reveals ZNF423 and CEP164 Mutations, Linking Renal Ciliopathies to DNA Damage Response Signaling](https://scholariq.org/papers/exome-capture-reveals-znf423-and-cep164-mutations-linking-renal-ciliopathies-to/)
- [In-frame deletion in a novel centrosomal/ciliary protein CEP290/NPHP6 perturbs its interaction with RPGR and results in early-onset retinal degeneration in the rd16 mouse](https://scholariq.org/papers/in-frame-deletion-in-a-novel-centrosomal-ciliary-protein-cep290-nphp6-perturbs/)
- [TTC21B contributes both causal and modifying alleles across the ciliopathy spectrum](https://scholariq.org/papers/ttc21b-contributes-both-causal-and-modifying-alleles-across-the-ciliopathy/)
- [Mutations in a novel gene, NPHP3, cause adolescent nephronophthisis, tapeto-retinal degeneration and hepatic fibrosis](https://scholariq.org/papers/mutations-in-a-novel-gene-nphp3-cause-adolescent-nephronophthisis-tapeto-retinal/)
- [ADCK4 mutations promote steroid-resistant nephrotic syndrome through CoQ10 biosynthesis disruption](https://scholariq.org/papers/adck4-mutations-promote-steroid-resistant-nephrotic-syndrome-through-coq10/)
- [Candidate exome capture identifies mutation of SDCCAG8 as the cause of a retinal-renal ciliopathy](https://scholariq.org/papers/candidate-exome-capture-identifies-mutation-of-sdccag8-as-the-cause-of-a-retinal/)

## Researcher topics

- [Genetic and Kidney Cyst Diseases](https://scholariq.org/topics/genetic-and-kidney-cyst-diseases/)
- [Renal and related cancers](https://scholariq.org/topics/renal-and-related-cancers/)
- [Renal Diseases and Glomerulopathies](https://scholariq.org/topics/renal-diseases-and-glomerulopathies/)
- [Chronic Kidney Disease and Diabetes](https://scholariq.org/topics/chronic-kidney-disease-and-diabetes/)
- [Genetic Syndromes and Imprinting](https://scholariq.org/topics/genetic-syndromes-and-imprinting/)

## Researcher university

- [University of Michigan](https://scholariq.org/institutions/university-of-michigan/)

---
Source: ScholarIQ — public research metadata, principally OpenAlex. See https://scholariq.org/sources/ for provenance and https://scholariq.org/methodology/ for what these figures mean.