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 |
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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 |
|
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 |
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