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Browsing publications by Dr Eric Olinger

Newcastle AuthorsTitleYearFull text
Dr Eric Olinger
Miguel Barroso Gil
Ruxandra Neatu
Professor John Sayer
Characterization of the Cystic Phenotype Associated with Monoallelic ALG8 and ALG9 Pathogenic Variants2025
Dr Eric Olinger
Zac Sentell
Dr Holly Mabillard
Dr Katrina Wood
Dr Dom Rutland
et al.		Urinary renal epithelial cells can be used for NPHP1 phenotyping and a personalized therapeutic strategy2025
Dr Eric Olinger
Dr Ian Wilson
Professor John Sayer
UMOD Genotype and Determinants of Urinary Uromodulin in African Populations2024
Dr Eric Olinger
Dr Ian Wilson
Sarah Orr
Miguel Barroso Gil
Ruxandra Neatu
et al.		Copy-number analysis from genome sequencing data of 11,754 rare-disease parent-child trios: A model for identifying autosomal recessive human gene knockouts including a novel gene for autosomal recessive retinopathy2024
Dr Eric Olinger
Sotia Iosifidou
Miguel Barroso Gil
Ruxandra Neatu
Dr Katrina Wood
et al.		Molecular genetic diagnosis of kidney ciliopathies: Lessons from interpreting genomic sequencing data and the requirement for accurate phenotypic data2024
Professor John Sayer
Dr Eric Olinger
Uromodulin processing in DNAJB11-kidney disease2024
Dr Holly Mabillard
Dr Eric Olinger
Professor John Sayer
Certain heterozygous variants in the kinase domain of the serine/threonine kinase NEK8 can cause an autosomal dominant form of polycystic kidney disease2023
Dr Holly Mabillard
Professor John Sayer
Dr Eric Olinger
Clinical and genetic spectra of autosomal dominant tubulointerstitial kidney disease2023
Dr Rob Geraghty
Dr Ian Wilson
Dr Eric Olinger
Alistair Rogers
Professor John Sayer
Routine Urinary Biochemistry Does Not Accurately Predict Stone Type Nor Recurrence in Kidney Stone Formers: A Multicentre, Multimodel, Externally Validated Machine-Learning Study2023
Laura Devlin
Miguel Barroso Gil
Ruxandra Neatu
Laura Powell
Dr Emanuela Molinari
et al.		Biallelic variants in CEP164 cause a motile ciliopathy-like syndrome2022
Dr Eric Olinger
Sarah Orr
Dr Holly Mabillard
Dr Yincent Tse
Dr Katrina Wood
et al.		Biallelic variants in TTC21B as a rare cause of early-onset arterial hypertension and tubuloglomerular kidney disease2022
Dr Eric Olinger
Dr Ian Wilson
Professor John Sayer
Kidney traits on repeat—the role of MUC1 VNTR2022
Dr Eric Olinger
Ruxandra Neatu
Professor John Sayer
Monoallelic IFT140 pathogenic variants are an important cause of the autosomal dominant polycystic kidney-spectrum phenotype2022
Professor John Sayer
Dr Eric Olinger
Miguel Barroso Gil
Monoallelic pathogenic ALG5 variants cause atypical polycystic kidney disease and interstitial fibrosis2022
Professor John Sayer
Dr Eric Olinger
Pseudodominant Alport syndrome caused by pathogenic homozygous and compound heterozygous COL4A3 splicing variants2022
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