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Browsing publications by
Ruxandra Neatu.
Newcastle Authors
Title
Year
Full text
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
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