# Colin A. Johnson

**Type:** Researchers  
**Canonical URL:** https://scholariq.org/researchers/colin-a-johnson/

## Facts

| Field | Value |
| --- | --- |
| Citations | 21,919 |
| Field | Genetic and Kidney Cyst Diseases |
| h-index | 78 |
| i10-index | 145 |
| Last Known Institution | University of Leeds |
| OpenAlex ID | https://openalex.org/A5033253597 |
| ORCID iD | https://orcid.org/0000-0002-2979-8234 |
| Works | 652 |

## Researcher papers

- [The ciliary gene RPGRIP1L is mutated in cerebello-oculo-renal syndrome (Joubert syndrome type B) and Meckel syndrome](https://scholariq.org/papers/the-ciliary-gene-rpgrip1l-is-mutated-in-cerebello-oculo-renal-syndrome-joubert/)
- [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/)
- [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/)
- [IFT80, which encodes a conserved intraflagellar transport protein, is mutated in Jeune asphyxiating thoracic dystrophy](https://scholariq.org/papers/ift80-which-encodes-a-conserved-intraflagellar-transport-protein-is-mutated-in/)
- [A common allele in RPGRIP1L is a modifier of retinal degeneration in ciliopathies](https://scholariq.org/papers/a-common-allele-in-rpgrip1l-is-a-modifier-of-retinal-degeneration-in/)
- [Mutations in NMNAT1 cause Leber congenital amaurosis and identify a new disease pathway for retinal degeneration](https://scholariq.org/papers/mutations-in-nmnat1-cause-leber-congenital-amaurosis-and-identify-a-new-disease/)

## 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/)
- [Genetic Syndromes and Imprinting](https://scholariq.org/topics/genetic-syndromes-and-imprinting/)
- [Hedgehog Signaling Pathway Studies](https://scholariq.org/topics/hedgehog-signaling-pathway-studies/)
- [Metabolism and Genetic Disorders](https://scholariq.org/topics/metabolism-and-genetic-disorders/)

## Researcher university

- [University of Leeds](https://scholariq.org/institutions/university-of-leeds/)

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