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Pediatric Nephrology (Berlin, Germany)|April 30, 2013
Eculizumab therapy for atypical haemolytic uraemic syndrome due to a gain-of-function mutation of complement factor BRodney D Gilbert, Darren J Fowler, Elizabeth Angus, et al.
Genetics Research|January 30, 2014
Exome analysis resolves differential diagnosis of familial kidney disease and uncovers a potential confounding variantJane Gibson, Rodney D Gilbert, David J Bunyan, et al.
Journal of Medical Genetics|November 5, 2016
<i>AMMECR1</i>: a single point mutation causes developmental delay, midface hypoplasia and elliptocytosisGaia Andreoletti, Eleanor G Seaby, Jennifer M Dewing, et al.
Pediatric Nephrology (Berlin, Germany)|February 13, 2026
Peri-kidney transplant management in autosomal dominant hypocalcaemia type 1Alice Glaysher, Matthew J Harmer, Ji Soo Kim, et al.
Frontiers in Pediatrics|June 8, 2017
Unexpected Findings in a Child with Atypical Hemolytic Uremic Syndrome: An Example of How Genomics Is Changing the Clinical Diagnostic ParadigmEleanor G Seaby, Rodney D Gilbert, Gaia Andreoletti, et al.
Clinical Genetics|September 23, 2022
A novel variant in GATM causes idiopathic renal Fanconi syndrome and predicts progression to end-stage kidney diseaseEleanor G Seaby, Steven Turner, David J Bunyan, et al.
Clinical Kidney Journal|January 15, 2014
Cisplatin-induced haemolytic uraemic syndrome associated with a novel intronic mutation of <i>CD46</i> treated with eculizumabRodney D Gilbert, Louise K Stanley, Darren J Fowler, et al.
Journal of Pediatric Endocrinology & Metabolism : JPEM|June 16, 2023
Syndrome of inappropriate secretion of anti-diuretic hormone due to hypothalamic hamartoma: use of tolvaptanRebecca Jane Moon, Maisara Soliman, Lieke Hoogenboom, et al.
Nephrology, Dialysis, Transplantation : Official Publication of the European Dialysis and Transplant Association - European Renal Association|May 7, 2004
Urinary L-lactate excretion is increased in renal Fanconi syndromeArumugavelu Thirumurugan, Andrew Thewles, Rodney D Gilbert, et al.
Scientific Reports|June 9, 2023
A genotype-to-phenotype approach suggests under-reporting of single nucleotide variants in nephrocystin-1 (NPHP1) related disease (UK 100,000 Genomes Project)Gary Leggatt, Guo Cheng, Sumit Narain, et al.
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