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Browsing publications by Dr Sarah Rice.

Newcastle AuthorsTitleYearFull text
Guillaume Aubourg
Dr Sarah Rice
Professor John Loughlin
Genetics of osteoarthritis2022
Intisar Al Alawi
Laura Powell
Dr Sarah Rice
Professor John Sayer
Case Report: A Novel In-Frame Deletion of GLIS2 Leading to Nephronophthisis and Early Onset Kidney Failure2021
Dr Sarah Rice
Jack Roberts
Maria Tselepi
Abby Brumwell
Professor John Loughlin
et al.
Genetic and Epigenetic Fine-Tuning of TGFB1 Expression Within the Human Osteoarthritic Joint2021
Yulia Kehayova
Professor John Loughlin
Dr Sarah Rice
Genetic and Epigenetic Interplay Within a COLGALT2 Enhancer Associated With Osteoarthritis2021
Dr Sarah Rice
Kat Cheung
Professor John Loughlin
Genome-wide association of phenotypes based on clustering patterns of hand osteoarthritis identify WNT9A as novel osteoarthritis gene2021
Laura Powell
Dr Eric Olinger
Dr Sarah Rice
Miguel Barroso Gil
Ian Wilson
et al.
Identification of LAMA1 mutations ends diagnostic odyssey and has prognostic implications for patients with presumed Joubert syndrome2021
Dr Sarah Rice
Dr Sami Anjum
Professor David Deehan
Professor John Loughlin
Multi‐Tissue Epigenetic and Gene Expression Analysis Combined With Epigenome Modulation Identifies RWDD2B as a Target of Osteoarthritis Susceptibility2021
Ruth Norris
Dr Rosie Dew
Professor Linda Sharp
Dr Alastair Greystoke
Dr Sarah Rice
et al.
Are there socio-economic inequalities in utilization of predictive biomarker tests and biological and precision therapies for cancer? A systematic review and meta-analysis2020
Dr Sarah Rice
Professor David Young
Professor John Loughlin
Interplay between genetics and epigenetics in osteoarthritis2020
Dr Tony Sorial
Ines Hofer
Maria Tselepi
Kat Cheung
Dr Eleanor Parker
et al.
Multi-tissue epigenetic analysis of the osteoarthritis susceptibility locus mapping to the plectin gene PLEC2020
Mohamed Al-Hamed
Dr Sarah Rice
Dr Noel Edwards
Professor John Sayer
Bialleleic PKD1 mutations underlie early-onset autosomal dominant polycystic kidney disease in Saudi Arabian families2019
Dr Jamie Willows
Dr Noel Edwards
Dr Sarah Rice
Professor John Sayer
Case Report: Investigation and molecular genetic diagnosis of familial hypomagnesaemia: a case report 2019
Dr Sarah Rice
Kat Cheung
Dr Louise Reynard
Professor John Loughlin
Discovery and analysis of methylation quantitative trait loci (mQTLs) mapping to novel osteoarthritis genetic risk signals2019
Dr Sarah Rice
Dr Colin Shepherd
Professor John Loughlin
Functional testing of thousands of osteoarthritis-associated variants for regulatory activity2019
Dr Sarah Rice
Kat Cheung
Dr Louise Reynard
Professor John Loughlin
Identification and analysis of novel methylation quantitative trait loci (mQTLs) in osteoarthritis2019
Dr Sarah Rice
Maria Tselepi
Dr Tony Sorial
Guillaume Aubourg
Dr Colin Shepherd
et al.
Prioritization of PLEC and GRINA as osteoarthritis risk genes through the identification and characterization of novel methylation quantitative trait loci2019
Sumaya Alkanderi
Dr Elisa Molinari
Veronica Sammut
Dr Simon Ramsbottom
Dr Shalabh Srivastava
et al.
ARL3 Mutations Cause Joubert Syndrome by Disrupting Ciliary Protein Composition2018
Dr Amy Fearn
Ben Allison
Dr Sarah Rice
Dr Noel Edwards
Professor John Sayer
et al.
Clinical, biochemical, and pathophysiological analysis of SLC34A1 mutations2018
Livia Delpiano
Dr Sarah Rice
Dr Michael Gray
Dr Vinciane Saint-Criq
Esomeprazole Increases Airway Surface Liquid pH in Primary Cystic Fibrosis Epithelial Cells2018
Dr Sarah Rice
Guillaume Aubourg
Dr Tony Sorial
Dr David Almarza Gomez
Maria Tselepi
et al.
Identification of a novel, methylation-dependent, RUNX2 regulatory region associated with osteoarthritis risk2018
Dr Sarah Rice
Dr Tony Sorial
Guillaume Aubourg
Dr Colin Shepherd
Maria Tselepi
et al.
Identification of novel methylation quantitative trait loci (mqtls) and functional characterization using CRISPR/CAS9 and gene expression analysis prioritizes PLEC as an OA risk gene2018
Dr Sarah Rice
Guillaume Aubourg
Dr Tony Sorial
Professor David Deehan
Professor John Loughlin
et al.
Epigenetic and transcriptional effects operate on the SUPT3H and RUNX2 genes residing at the chromosome 6p21.1 osteoarthritis susceptibility locus and correlate with the association signal2017
Dr Noel Edwards
Dr Sarah Rice
Dr Ann Marie Hynes
Dr Shalabh Srivastava
Dr Iain Moore
et al.
A novel LMX1B mutation in a family with end-stage renal disease of ‘unknown cause’2015
Dr Sarah Rice
Dr Noel Edwards
Dr Charlie Tomson
Professor David Thwaites
Professor John Sayer
et al.
Clinical and Genetic Analysis of a Cohort of English Cystinuria Patients2015
Dr Sarah Rice
Dr Noel Edwards
Dr Alice Hartley
Professor David Thwaites
Professor John Sayer
et al.
Clinical and genetic analysis of patients with cystinuria in the UK2015
Dr Ann Marie Hynes
Dr Sarah Rice
Professor David Thwaites
Professor John Sayer
Fourteen Monogenic Genes Account for 15% of Nephrolithiasis/Nephrocalcinosis2015
Dr Sarah Rice
Dr Noel Edwards
Professor John Sayer
Professor David Thwaites
The Effect of a Novel rBAT Mutation on the Expression and Function of System b(o,+)2015
Dr Sarah Rice
Dr Noel Edwards
Professor John Sayer
Professor David Thwaites
The novel rBAT mutation Y579D and activity of the amino acid transporter System b0,+2015
Dr Sarah Rice
Professor David Thwaites
Professor John Sayer
Cystinuria revisited: presentations with calcium-containing stones demands vigilance and screening in the stone clinic2014