Publications by Dr Eric Olinger - ePrints

Browsing publications by Dr Eric Olinger.

Newcastle Authors	Title	Year
Dr Eric Olinger Miguel Barroso Gil Ruxandra Neatu Professor John Sayer	Characterization of the Cystic Phenotype Associated with Monoallelic ALG8 and ALG9 Pathogenic Variants	2025
Dr Eric Olinger Dr Ian Wilson Professor John Sayer	UMOD Genotype and Determinants of Urinary Uromodulin in African Populations	2024
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 retinopathy	2024
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	2024
Professor John Sayer Dr Eric Olinger	Uromodulin processing in DNAJB11-kidney disease	2024
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 disease	2023
Dr Holly Mabillard Professor John Sayer Dr Eric Olinger	Clinical and genetic spectra of autosomal dominant tubulointerstitial kidney disease	2023
Dr Rob Geraghty Dr Ian Wilson Dr Eric Olinger Alistair Rogers Professor John Sayer et al.	Routine Urinary Biochemistry Does Not Accurately Predict Stone Type Nor Recurrence in Kidney Stone Formers: A Multicentre, Multimodel, Externally Validated Machine-Learning Study	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
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