Ruxandra Neatu

Central Parkway
Newcastle Upon Tyne, ENG, United Kingdom

Last Updated: 09/26/2026

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Found 11 publications

Network-based framework for studying etiology and phenotypic diversity in primary ciliopathies.

Network-based framework for studying etiology and phenotypic diversity in primary ciliopathies.

Journal: Genome biology

Published: January 08, 2025

Biallelic TMEM72 Variants in Patients with a Nephronophthisis-Like Phenotype.

Biallelic TMEM72 Variants in Patients with a Nephronophthisis-Like Phenotype.

Journal: Nephron

Published: December 21, 2024

Characterization of the Cystic Phenotype Associated with Monoallelic ALG8 and ALG9 Pathogenic Variants.

Characterization of the Cystic Phenotype Associated with Monoallelic ALG8 and ALG9 Pathogenic Variants.

Journal: Journal of the American Society of Nephrology : JASN

Published: August 06, 2024

Rare disease gene association discovery in the 100,000 Genomes Project.

Rare disease gene association discovery in the 100,000 Genomes Project.

Journal: Nature

Published: December 19, 2023

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.

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.

Journal: Genetics in medicine open

Published: September 11, 2023

Use of whole genome sequencing to determine the genetic basis of visceral myopathies including Prune Belly syndrome.

Use of whole genome sequencing to determine the genetic basis of visceral myopathies including Prune Belly syndrome.

Journal: Journal of rare diseases (Berlin, Germany)

Published: February 06, 2023

Molecular genetic diagnosis of kidney ciliopathies: Lessons from interpreting genomic sequencing data and the requirement for accurate phenotypic data.

Molecular genetic diagnosis of kidney ciliopathies: Lessons from interpreting genomic sequencing data and the requirement for accurate phenotypic data.

Journal: Annals of human genetics

Published: January 30, 2023

Monoallelic intragenic POU3F2 variants lead to neurodevelopmental delay and hyperphagic obesity, confirming the gene's candidacy in 6q16.1 deletions.

Monoallelic intragenic POU3F2 variants lead to neurodevelopmental delay and hyperphagic obesity, confirming the gene's candidacy in 6q16.1 deletions.

Journal: American journal of human genetics

Published: December 16, 2022

The Idiopathic Pulmonary Fibrosis-Associated Single Nucleotide Polymorphism RS35705950 Is Transcribed in a MUC5B Promoter Associated Long Non-Coding RNA (AC061979.1).

The Idiopathic Pulmonary Fibrosis-Associated Single Nucleotide Polymorphism RS35705950 Is Transcribed in a MUC5B Promoter Associated Long Non-Coding RNA (AC061979.1).

Journal: Non-coding RNA

Published: October 01, 2022

Biallelic variants in CEP164 cause a motile ciliopathy-like syndrome.

Biallelic variants in CEP164 cause a motile ciliopathy-like syndrome.

Journal: Clinical genetics

Published: July 28, 2022

Monoallelic IFT140 pathogenic variants are an important cause of the autosomal dominant polycystic kidney-spectrum phenotype.

Monoallelic IFT140 pathogenic variants are an important cause of the autosomal dominant polycystic kidney-spectrum phenotype.

Journal: American journal of human genetics

Published: October 01, 2021

Showing 1-11 of 11

Last Updated: 09/26/2026