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Clinical Kidney Journal|February 26, 2015
A novel LMX1B mutation in a family with end-stage renal disease of 'unknown cause'Noel Edwards, Sarah J Rice, Shreya Raman, et al.
Journal of Medical Genetics|July 10, 2007
Mutation analysis of NPHP6/CEP290 in patients with Joubert syndrome and Senior-Løken syndromeJuliana Helou, Edgar A Otto, Massimo Attanasio, et al.
Physiological Reports|June 21, 2018
Clinical, biochemical, and pathophysiological analysis of SLC34A1 mutationsAmy Fearn, Benjamin Allison, Sarah J Rice, et al.
The Lancet. Rheumatology|October 18, 2025
Skeletal muscle effects of Janus kinase inhibition in rheumatoid arthritis (RAMUS): a single-arm, experimental medicine studyJoshua L Bennett, Kieren G Hollingsworth, Arthur G Pratt, et al.
Administration and Policy in Mental Health|September 18, 2020
Evaluation of an Implementation Intervention to Increase Reach of Evidence-Based Psychotherapies for PTSD in US Veterans Health Administration PTSD ClinicsNina A Sayer, Nancy C Bernardy, Matthew Yoder, et al.
European Urology|April 23, 2025
European Association of Urology Guidelines on the Diagnosis and Treatment of UrolithiasisAndreas Skolarikos, Robert Geraghty, Bhaskar Somani, et al.
Human Molecular Genetics|August 23, 2019
Molecular genetic investigations identify new clinical phenotypes associated with BCS1L-related mitochondrial diseaseMonika Oláhová, Camilla Ceccatelli Berti, Jack J Collier, et al.
Geroscience|June 13, 2026
Muscle Ageing and Sarcopenia Study (MASS) Lifecourse: a valuable resource for understanding skeletal muscle ageingRachel Cooper, Christopher Hurst, Holly Syddall, et al.
Nature|April 13, 2012
Hsp72 preserves muscle function and slows progression of severe muscular dystrophyStefan M Gehrig, Chris van der Poel, Timothy A Sayer, et al.
Pediatric Nephrology (Berlin, Germany)|May 13, 2019
Bialleleic PKD1 mutations underlie early-onset autosomal dominant polycystic kidney disease in Saudi Arabian familiesMohamed H Al-Hamed, Nada Alsahan, Sarah J Rice, et al.
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