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Author Details

Richard N Sandford
University of Cambridge
1991
111
38
PMIDPaper TitleJournal TitlePublished Year
36243043Anti-Cholestatic Therapy with Obeticholic Acid Improves Short-Term Memory in Bile Duct-Ligated Mice.Am J Pathol2023
37191344Bacterial and metabolic phenotypes associated with inadequate response to ursodeoxycholic acid treatment in primary biliary cholangitis.Gut Microbes2023
37026715Regulation of immune responses in primary biliary cholangitis: a transcriptomic analysis of peripheral immune cells.Hepatol Commun2023
36639314Corrigendum to: "An international genome-wide meta-analysis of primary biliary cholangitis: Novel risk loci and candidate drugs" [J Hepatol 75 (2021) 572-581].J Hepatol2023
35184155Evaluation of tumour surveillance protocols and outcomes in von Hippel-Lindau disease in a national health service.Br J Cancer2022
35705349Research priorities for autosomal dominant polycystic kidney disease: a UK priority setting partnership.BMJ Open2022
35609437The relationship between disease activity and UDCA response criteria in primary biliary cholangitis: A cohort study.EBioMedicine2022
36130591An HNRNPK-specific DNA methylation signature makes sense of missense variants and expands the phenotypic spectrum of Au-Kline syndrome.Am J Hum Genet2022
32562892Effects of Primary Biliary Cholangitis on Quality of Life and Health Care Costs in the United Kingdom.Clin Gastroenterol Hepatol2021
35211300Establishing a core outcome measure for pain in patients with autosomal dominant polycystic kidney disease: a consensus workshop report.Clin Kidney J2021
34754429Developing a patient-centred tool for pain measurement and evaluation in autosomal dominant polycystic kidney disease.Clin Kidney J2021
34573396Investigation and Management of Apparently Sporadic Central Nervous System Haemangioblastoma for Evidence of Von Hippel-Lindau Disease.Genes (Basel)2021
34043715Patient-reported outcome measures for pain in autosomal dominant polycystic kidney disease: A systematic review.PLoS One2021
34129689The Serum Proteome and Ursodeoxycholic Acid Response in Primary Biliary Cholangitis.Hepatology2021
33029936Leukoencephalopathy with calcifications and cysts: Genetic and phenotypic spectrum.Am J Med Genet A2021
32450155Clinical and genetic spectra of autosomal dominant tubulointerstitial kidney disease due to mutations in UMOD and MUC1.Kidney Int2020
31665476High water vs. ad libitum water intake for autosomal dominant polycystic kidney disease: a randomized controlled feasibility trial.QJM2020
31636096Fumarate Metabolic Signature for the Detection of Reed Syndrome in Humans.Clin Cancer Res2020
31956915High water vs. ad libitum water intake for autosomal dominant polycystic kidney disease: a randomized controlled feasibility trial.QJM2020
32505465Novel nephronophthisis-associated variants reveal functional importance of MAPKBP1 dimerization for centriolar recruitment.Kidney Int2020
30557739Pruritus Is Common and Undertreated in Patients With Primary Biliary Cholangitis in the United Kingdom.Clin Gastroenterol Hepatol2019
31638449Is ultra wide-field retinal imaging alone appropriate for retinal angioma screening in lower risk subjects attending Von Hippel-Lindau (VHL) clinics?Ophthalmic Genet2019
31601610New Ways of Finding New Genes for Old Diseases.J Am Soc Nephrol2019
31039757Clinical practice guideline monitoring children and young people with, or at risk of developing autosomal dominant polycystic kidney disease (ADPKD).BMC Nephrol2019
30568244Bone morphogenetic protein 4 (BMP4) loss-of-function variant associated with autosomal dominant Stickler syndrome and renal dysplasia.Eur J Hum Genet2019
30566748Factors Associated With Outcomes of Patients With Primary Sclerosing Cholangitis and Development and Validation of a Risk Scoring System.Hepatology2019
28779025Genetic association analysis identifies variants associated with disease progression in primary sclerosing cholangitis.Gut2018
30017646Pretreatment prediction of response to ursodeoxycholic acid in primary biliary cholangitis: development and validation of the UDCA Response Score.Lancet Gastroenterol Hepatol2018
30507971Amino acid residues in five separate HLA genes can explain most of the known associations between the MHC and primary biliary cholangitis.PLoS Genet2018
29439650A model to predict disease progression in patients with autosomal dominant polycystic kidney disease (ADPKD): the ADPKD Outcomes Model.BMC Nephrol2018
29743334Randomised controlled trial of high versus ad libitum water intake in patients with autosomal dominant polycystic kidney disease: rationale and design of the DRINK feasibility trial.BMJ Open2018
29654216Glycine Amidinotransferase (GATM), Renal Fanconi Syndrome, and Kidney Failure.J Am Soc Nephrol2018
29333623Evaluation of universal immunohistochemical screening of sebaceous neoplasms in a service setting.Clin Exp Dermatol2018
27992413Genome-wide association study of primary sclerosing cholangitis identifies new risk loci and quantifies the genetic relationship with inflammatory bowel disease.Nat Genet2017
28089251Mutations in MAPKBP1 Cause Juvenile or Late-Onset Cilia-Independent Nephronophthisis.Am J Hum Genet2017
28157543Mutations in MAPKBP1 Cause Juvenile or Late-Onset Cilia-Independent Nephronophthisis.Am J Hum Genet2017
28904368Polycystin-1 inhibits eIF2α phosphorylation and cell apoptosis through a PKR-eIF2α pathway.Sci Rep2017
28616208Patient Survey of current water Intake practices in autosomal dominant Polycystic kidney disease: the SIPs survey.Clin Kidney J2017
28605509A novel homozygous UMOD mutation reveals gene dosage effects on uromodulin processing and urinary excretion.Nephrol Dial Transplant2017
26223498The UK-PBC risk scores: Derivation and validation of a scoring system for long-term prediction of end-stage liver disease in primary biliary cholangitis.Hepatology2016
27737868Bulbar dysfunction and aspiration pneumonia due to a brainstem haemangioblastoma: an unusual complication of von Hippel-Lindau disease.BMJ Case Rep2016
27640331The inter-relationship of symptom severity and quality of life in 2055 patients with primary biliary cholangitis.Aliment Pharmacol Ther2016
26038530Vascular Endothelial Growth Factor C for Polycystic Kidney Diseases.J Am Soc Nephrol2016
25436415Pathogenic uromodulin mutations result in premature intracellular polymerization.FEBS Lett2015
26394269International genome-wide meta-analysis identifies new primary biliary cirrhosis risk loci and targetable pathogenic pathways.Nat Commun2015
24481870Implications of genome-wide association studies in novel therapeutics in primary biliary cirrhosis.Eur J Immunol2014
27201867Development Of A Model To Predict Disease Progression In Autosomal Dominant Polycystic Kidney Disease (ADPKD).Value Health2014
25412767Identification of people with autosomal dominant polycystic kidney disease using routine data: a cross sectional study.BMC Nephrol2014
25403989NOS3 as a potential modifier of ADPKD phenotypic variability: progress towards an answer.Nephrology (Carlton)2014
24990821A high-resolution structure of the EF-hand domain of human polycystin-2.Protein Sci2014
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Collaborators

George F Mells
University of Cambridge
Co-authored papers 22
Gideon M Hirschfield
University of Toronto
Co-authored papers 15
Heather J Cordell
Population Health Sciences Institute, Newcastle University
Co-authored papers 9
Carl A Anderson
Wellcome Sanger Institute
Co-authored papers 8
Pietro Invernizzi
Center for Autoimmune Liver Diseases, University of Milano-Bicocca
Co-authored papers 6
Brian D Juran
Mayo Clinic
Co-authored papers 5
Konstantinos N Lazaridis
Mayo Clinic
Co-authored papers 5
Andre Franke
Institute of Clinical Molecular Biology, Kiel University
Co-authored papers 4
John A Sayer
Translational and Clinical Research Institute, Newcastle University
Co-authored papers 4
Olivier Devuyst
Institute of Physiology, University of Zurich, Cliniques Universitaires Saint-Luc
Co-authored papers 4
David Ellinghaus
Co-authored papers 3
Friedhelm Hildebrandt
Boston Children's Hospital
Co-authored papers 3
Samuel Aparicio
University of British Columbia
Co-authored papers 3
John R Bradley
Cambridge University Hospitals NHS Foundation
Co-authored papers 3
Alex Bateman
European Bioinformatics Institute (EMBL-EBI)
Co-authored papers 3
Stefan Schreiber
Co-authored papers 3
Younghun Han
Institute for Clinical and Translational Research, Baylor College of Medicine
Co-authored papers 2
Wolfgang Lieb
Co-authored papers 2
Michael F Seldin
University of California davis
Co-authored papers 2
Elizabeth J Atkinson
Mayo Clinic
Co-authored papers 2
Cisca Wijmenga
Co-authored papers 2
Patrick Nitschke
Co-authored papers 2
Christopher I Amos
Baylor College of Medicine
Co-authored papers 2
Deborah Ruddy
Guys and St Thomas' Hospital
Co-authored papers 2
Ana Lleo
Humanitas University
Co-authored papers 2
Sarju G Mehta
Cambridge University Hospitals NHS Foundation Trust
Co-authored papers 2
Timothy C Burn
Incyte Research Institute
Co-authored papers 2
Mariza de Andrade
Mayo Clinic
Co-authored papers 2
Katherine I Morley
The University of Melbourne
Co-authored papers 2
Cyrus Chothia
Co-authored papers 2
Release 1.2