Publications by Ruxandra Neatu - ePrints

Browsing publications by Ruxandra Neatu.

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 Marta Bertoli Professor Patrick Chinnery Dr Helen Griffin Professor Sophie Hambleton Ruxandra Neatu et al.	Rare disease gene association discovery in the 100,000 Genomes Project	2025
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
Dr Marta Bertoli Dr Helen Griffin Professor Sophie Hambleton Professor Neil Rajan Ruxandra Neatu et al.	Rare disease gene association discovery from burden analysis of the 100,000 Genomes Project data.	2024
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