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Browsing publications by
Dr Eric Olinger.
Newcastle Authors
Title
Year
Full text
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 data
2023
Laura Devlin
Miguel Barroso Gil
Ruxandra Neatu
Laura Powell
Dr Emanuela Molinari
et al.
Biallelic variants in
CEP164
cause a motile ciliopathy-like syndrome
2022
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 disease
2022
Dr Eric Olinger
Dr Ian Wilson
Professor John Sayer
Kidney traits on repeat—the role of
MUC1
VNTR
2022
Dr Eric Olinger
Ruxandra Neatu
Professor John Sayer
Monoallelic IFT140 pathogenic variants are an important cause of the autosomal dominant polycystic kidney-spectrum phenotype
2022
Professor John Sayer
Dr Eric Olinger
Miguel Barroso Gil
Monoallelic pathogenic
ALG5
variants cause atypical polycystic kidney disease and interstitial fibrosis
2022
Professor John Sayer
Dr Eric Olinger
Pseudodominant Alport syndrome caused by pathogenic homozygous and compound heterozygous COL4A3 splicing variants
2022
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 families
2021
Dr Holly Mabillard
Professor John Sayer
Dr Eric Olinger
Clinical and genetic spectra of autosomal dominant tubulointerstitial kidney disease
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
Miguel Barroso Gil
Dr Eric Olinger
Professor John Sayer
Molecular genetics of renal ciliopathies
2021
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 patients
2021
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 therapies
2021
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 diseases
2021
Dr Eric Olinger
The cryo-EM structure of the human uromodulin filament core reveals a unique assembly mechanism
2020