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Browsing publications by Dr Eric Olinger.

Newcastle AuthorsTitleYearFull text
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
Pseudodominant Alport syndrome caused by pathogenic homozygous and compound heterozygous COL4A3 splicing variants2022
Dr Eric Olinger
Dr Elisa Molinari
Miguel Barroso Gil
Laura Powell
Dr Colin Miles
et al.
A discarded synonymous variant in NPHP3 explains nephronophthisis and congenital hepatic fibrosis in several families2021
Dr Holly Mabillard
Professor John Sayer
Dr Eric Olinger
Clinical and genetic spectra of autosomal dominant tubulointerstitial kidney disease2021
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
Miguel Barroso Gil
Dr Eric Olinger
Professor John Sayer
Molecular genetics of renal ciliopathies2021
Intisar Al Alawi
Miguel Barroso Gil
Laura Powell
Dr Eric Olinger
Professor John Sayer
et al.
The diagnostic yield of whole exome sequencing as a first approach in consanguineous Omani renal ciliopathy syndrome patients2021
Miguel Barroso Gil
Dr Eric Olinger
Dr Simon Ramsbottom
Dr Elisa Molinari
Dr Colin Miles
et al.
Update of genetic variants in CEP120 and CC2D2A—With an emphasis on genotype-phenotype correlations, tissue specific transcripts and exploring mutation specific exon skipping therapies2021
Dr Rob Geraghty
Dr Eric Olinger
Professor John Sayer
Whole exome sequencing of large populations: identification of loss of function alleles and implications for inherited kidney diseases2021
Dr Eric Olinger
The cryo-EM structure of the human uromodulin filament core reveals a unique assembly mechanism2020