# John A. Sayer

**Type:** Researchers  
**Canonical URL:** https://scholariq.org/researchers/john-a-sayer/

## Facts

| Field | Value |
| --- | --- |
| Citations | 12,494 |
| Field | Genetic and Kidney Cyst Diseases |
| h-index | 57 |
| i10-index | 193 |
| Last Known Institution | Newcastle upon Tyne Hospitals NHS Foundation Trust |
| OpenAlex ID | https://openalex.org/A5040517393 |
| ORCID iD | 0000-0003-1881-3782 |
| Works | 1,201 |

## Researcher papers

- [Whole-genome sequencing of patients with rare diseases in a national health system](https://scholariq.org/papers/whole-genome-sequencing-of-patients-with-rare-diseases-in-a-national-health/)
- [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/)
- [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/)
- [100,000 Genomes Pilot on Rare-Disease Diagnosis in Health Care - Preliminary Report.](https://scholariq.org/papers/100-000-genomes-pilot-on-rare-disease-diagnosis-in-health-care-preliminary/)
- [Germline selection shapes human mitochondrial DNA diversity](https://scholariq.org/papers/germline-selection-shapes-human-mitochondrial-dna-diversity/)
- [Fourteen Monogenic Genes Account for 15% of Nephrolithiasis/Nephrocalcinosis](https://scholariq.org/papers/fourteen-monogenic-genes-account-for-15-of-nephrolithiasis-nephrocalcinosis/)
- [Loss of GLIS2 causes nephronophthisis in humans and mice by increased apoptosis and fibrosis](https://scholariq.org/papers/loss-of-glis2-causes-nephronophthisis-in-humans-and-mice-by-increased-apoptosis/)
- [Whole exome sequencing frequently detects a monogenic cause in early onset nephrolithiasis and nephrocalcinosis](https://scholariq.org/papers/whole-exome-sequencing-frequently-detects-a-monogenic-cause-in-early-onset/)
- [Clinical practice guideline monitoring children and young people with, or at risk of developing autosomal dominant polycystic kidney disease (ADPKD)](https://scholariq.org/papers/clinical-practice-guideline-monitoring-children-and-young-people-with-or-at-risk/)

## 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/)
- [Kidney Stones and Urolithiasis Treatments](https://scholariq.org/topics/kidney-stones-and-urolithiasis-treatments/)
- [Biomedical Research and Pathophysiology](https://scholariq.org/topics/biomedical-research-and-pathophysiology/)
- [Renal Diseases and Glomerulopathies](https://scholariq.org/topics/renal-diseases-and-glomerulopathies/)

## Researcher university

- [Newcastle upon Tyne Hospitals NHS Foundation Trust](https://scholariq.org/institutions/newcastle-upon-tyne-hospitals-nhs-foundation-trust/)

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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.