# Julia Hoefele

**Type:** Researchers  
**Canonical URL:** https://scholariq.org/researchers/julia-hoefele/

## Facts

| Field | Value |
| --- | --- |
| Citations | 5,102 |
| Field | Renal and related cancers |
| h-index | 34 |
| i10-index | 71 |
| Last Known Institution | Duke University |
| OpenAlex ID | https://openalex.org/A5045535986 |
| ORCID iD | 0000-0002-7917-7129 |
| Works | 145 |

## Researcher papers

- [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/)
- [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/)
- [ARHGDIA mutations cause nephrotic syndrome via defective RHO GTPase signaling](https://scholariq.org/papers/arhgdia-mutations-cause-nephrotic-syndrome-via-defective-rho-gtpase-signaling/)
- [Mutations in Multiple PKD Genes May Explain Early and Severe Polycystic Kidney Disease](https://scholariq.org/papers/mutations-in-multiple-pkd-genes-may-explain-early-and-severe-polycystic-kidney/)
- [A Gene Mutated in Nephronophthisis and Retinitis Pigmentosa Encodes a Novel Protein, Nephroretinin, Conserved in Evolution](https://scholariq.org/papers/a-gene-mutated-in-nephronophthisis-and-retinitis-pigmentosa-encodes-a-novel/)
- [KANK deficiency leads to podocyte dysfunction and nephrotic syndrome](https://scholariq.org/papers/kank-deficiency-leads-to-podocyte-dysfunction-and-nephrotic-syndrome/)
- [Genetics in chronic kidney disease: conclusions from a Kidney Disease: Improving Global Outcomes (KDIGO) Controversies Conference](https://scholariq.org/papers/genetics-in-chronic-kidney-disease-conclusions-from-a-kidney-disease-improving/)
- [Expert consensus guidelines for the genetic diagnosis of Alport syndrome](https://scholariq.org/papers/expert-consensus-guidelines-for-the-genetic-diagnosis-of-alport-syndrome/)
- [Evidence of Oligogenic Inheritance in Nephronophthisis](https://scholariq.org/papers/evidence-of-oligogenic-inheritance-in-nephronophthisis/)
- [Rapid Response to Cyclosporin A and Favorable Renal Outcome in Nongenetic Versus Genetic Steroid–Resistant Nephrotic Syndrome](https://scholariq.org/papers/rapid-response-to-cyclosporin-a-and-favorable-renal-outcome-in-nongenetic-versus/)
- [Lifelong effect of therapy in young patients with the <i>COL4A5</i> Alport missense variant p.(Gly624Asp): a prospective cohort study](https://scholariq.org/papers/lifelong-effect-of-therapy-in-young-patients-with-the-i-col4a5-i-alport-missense/)
- [Identification of disease-causing variants by comprehensive genetic testing with exome sequencing in adults with suspicion of hereditary FSGS](https://scholariq.org/papers/identification-of-disease-causing-variants-by-comprehensive-genetic-testing-with/)

## Researcher topics

- [Renal and related cancers](https://scholariq.org/topics/renal-and-related-cancers/)
- [Renal Diseases and Glomerulopathies](https://scholariq.org/topics/renal-diseases-and-glomerulopathies/)
- [Genetic and Kidney Cyst Diseases](https://scholariq.org/topics/genetic-and-kidney-cyst-diseases/)
- [Cell Adhesion Molecules Research](https://scholariq.org/topics/cell-adhesion-molecules-research/)
- [Genomics and Rare Diseases](https://scholariq.org/topics/genomics-and-rare-diseases/)

## Researcher university

- [Duke University](https://scholariq.org/institutions/duke-university/)

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