Publications by Dr Sarah Rice - ePrints

Browsing publications by Dr Sarah Rice.

Newcastle Authors	Title	Year
Guillaume Aubourg Dr Sarah Rice Professor John Loughlin	Genetics of osteoarthritis	2022
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 Failure	2021
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 Joint	2021
Yulia Kehayova Professor John Loughlin Dr Sarah Rice	Genetic and Epigenetic Interplay Within a COLGALT2 Enhancer Associated With Osteoarthritis	2021
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 gene	2021
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 syndrome	2021
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 Susceptibility	2021
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-analysis	2020
Dr Sarah Rice Professor David Young Professor John Loughlin	Interplay between genetics and epigenetics in osteoarthritis	2020
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 PLEC	2020
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 families	2019
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 signals	2019
Dr Sarah Rice Dr Colin Shepherd Professor John Loughlin	Functional testing of thousands of osteoarthritis-associated variants for regulatory activity	2019
Dr Sarah Rice Kat Cheung Dr Louise Reynard Professor John Loughlin	Identification and analysis of novel methylation quantitative trait loci (mQTLs) in osteoarthritis	2019
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 loci	2019
Sumaya Alkanderi Dr Elisa Molinari Veronica Sammut Dr Simon Ramsbottom Dr Shalabh Srivastava et al.	ARL3 Mutations Cause Joubert Syndrome by Disrupting Ciliary Protein Composition	2018
Dr Amy Fearn Ben Allison Dr Sarah Rice Dr Noel Edwards Professor John Sayer et al.	Clinical, biochemical, and pathophysiological analysis of SLC34A1 mutations	2018
Livia Delpiano Dr Sarah Rice Dr Michael Gray Dr Vinciane Saint-Criq	Esomeprazole Increases Airway Surface Liquid pH in Primary Cystic Fibrosis Epithelial Cells	2018
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 risk	2018
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 gene	2018
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 signal	2017
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 Patients	2015
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 UK	2015
Dr Ann Marie Hynes Dr Sarah Rice Professor David Thwaites Professor John Sayer	Fourteen Monogenic Genes Account for 15% of Nephrolithiasis/Nephrocalcinosis	2015
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 b^0,+	2015
Dr Sarah Rice Professor David Thwaites Professor John Sayer	Cystinuria revisited: presentations with calcium-containing stones demands vigilance and screening in the stone clinic	2014