Richard N. Sandford

Hills Road
Cambridge, ENG, United Kingdom

Last Updated: 09/26/2026

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Found 71 publications

Prospective use of genomics in the evaluation of sudden cardiac death: results from a national health service population pathway.

Prospective use of genomics in the evaluation of sudden cardiac death: results from a national health service population pathway.

Journal: EBioMedicine

Published: December 31, 2025

An HNRNPK-specific DNA methylation signature makes sense of missense variants and expands the phenotypic spectrum of Au-Kline syndrome.

An HNRNPK-specific DNA methylation signature makes sense of missense variants and expands the phenotypic spectrum of Au-Kline syndrome.

Journal: American journal of human genetics

Published: August 08, 2025

Validating the SONG-PKD Pain Instrument, a Core Outcome Measure for Pain in ADPKD.

Validating the SONG-PKD Pain Instrument, a Core Outcome Measure for Pain in ADPKD.

Journal: Kidney international reports

Published: September 10, 2024

Quantifying variant contributions in cystic kidney disease using national-scale whole-genome sequencing.

Quantifying variant contributions in cystic kidney disease using national-scale whole-genome sequencing.

Journal: The Journal of clinical investigation

Published: March 27, 2024

Disruption of the human cystin-1 myristoyl-electrostatic switch causes polycystic kidney disease that phenocopies autosomal recessive polycystic kidney disease.

Disruption of the human cystin-1 myristoyl-electrostatic switch causes polycystic kidney disease that phenocopies autosomal recessive polycystic kidney disease.

Journal: Kidney international

Published: December 21, 2023

Bacterial and metabolic phenotypes associated with inadequate response to ursodeoxycholic acid treatment in primary biliary cholangitis.

Bacterial and metabolic phenotypes associated with inadequate response to ursodeoxycholic acid treatment in primary biliary cholangitis.

Journal: Gut microbes

Published: May 16, 2023

Corrigendum to: "An international genome-wide meta-analysis of primary biliary cholangitis: Novel risk loci and candidate drugs" [J Hepatol 75 (2021) 572-581].

Corrigendum to: "An international genome-wide meta-analysis of primary biliary cholangitis: Novel risk loci and candidate drugs" [J Hepatol 75 (2021) 572-581].

Journal: Journal of hepatology

Published: January 13, 2023

Research priorities for autosomal dominant polycystic kidney disease: a UK priority setting partnership.

Research priorities for autosomal dominant polycystic kidney disease: a UK priority setting partnership.

Journal: BMJ open

Published: June 15, 2022

An HNRNPK-specific DNA methylation signature makes sense of missense variants and expands the phenotypic spectrum of Au-Kline syndrome.

An HNRNPK-specific DNA methylation signature makes sense of missense variants and expands the phenotypic spectrum of Au-Kline syndrome.

Journal: American journal of human genetics

Published: May 27, 2022

Regulation of immune responses in primary biliary cholangitis: a transcriptomic analysis of peripheral immune cells.

Regulation of immune responses in primary biliary cholangitis: a transcriptomic analysis of peripheral immune cells.

Journal: Hepatology communications

Published: May 23, 2022

Anti-Cholestatic Therapy with Obeticholic Acid Improves Short-Term Memory in Bile Duct-Ligated Mice.

Anti-Cholestatic Therapy with Obeticholic Acid Improves Short-Term Memory in Bile Duct-Ligated Mice.

Journal: The American journal of pathology

Published: May 20, 2022

Corrigendum to 'An international genome-wide meta-analysis of primary biliary cholangitis: Novel risk loci and candidate drugs' [J Hepatol 2021;75(3):572-581].

Corrigendum to 'An international genome-wide meta-analysis of primary biliary cholangitis: Novel risk loci and candidate drugs' [J Hepatol 2021;75(3):572-581].

Journal: Journal of hepatology

Published: December 13, 2021

Showing 1-12 of 71

Last Updated: 09/26/2026