Publications by Ruxandra Neatu - ePrints

Newcastle Authors	Title	Year
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 Ruxandra Neatu Professor John Sayer	Monoallelic intragenic POU3F2 variants lead to neurodevelopmental delay and hyperphagic obesity, confirming the gene's candidacy in 6q16.1 deletions	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 Ruxandra Neatu Professor John Sayer	Monoallelic IFT140 pathogenic variants are an important cause of the autosomal dominant polycystic kidney-spectrum phenotype	2022
Ruxandra Neatu Dr Dean Thompson Dr Ed Schwalbe Dr Stephany Veuger	The Idiopathic Pulmonary Fibrosis-Associated Single Nucleotide Polymorphism RS35705950 Is Transcribed in a MUC5B Promoter Associated Long Non-Coding RNA (AC061979.1)	2022