Professor Patrick Chinnery
Professor Jordi Diaz Manera
Professor Rita Horvath
Professor Volker Straub
Dr Christina Trainor
et al. | Correction to: Genomic reanalysis of a pan-European rare-disease resource yields new diagnoses (Nature Medicine, (2025), 31, 2, (478-489), 10.1038/s41591-024-03420-w) | 2025 |
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Professor Hanns Lochmuller
Professor Rita Horvath
Dr Ana Topf
Professor Volker Straub
| Diagnosing missed cases of spinal muscular atrophy in genome, exome, and panel sequencing data sets | 2025 |
|
Professor Jordi Diaz Manera
Professor Rita Horvath
Professor Hanns Lochmuller
Professor Volker Straub
Dr Christina Trainor
et al. | Genomic reanalysis of a pan-European rare-disease resource yields new diagnoses | 2025 |
|
Dr Mika Martikainen
Professor Rita Horvath
| Liver Involvement in POLG Disease—a Multicentre Cohort Study of 202 Patients | 2025 |
|
Dr Patrick Yu Wai Man
Professor Rita Horvath
Dr Tim Rudge
| OPA1 and disease-causing mutants perturb mitochondrial nucleoid distribution | 2024 |
|
Dr Ana Topf
Professor Rita Horvath
Professor Hanns Lochmuller
Dr Andreas Roos
| A Homozygous PPP1R21 Splice Variant Associated with Severe Developmental Delay, Absence of Speech, and Muscle Weakness Leads to Activated Proteasome Function | 2023 |
|
Professor Rita Horvath
| Investigating genotype-phenotype relationship of extreme neuropathic pain disorders in a UK national cohort | 2023 |
|
Dr William Macken
Dr Mahmoud Fassad
Dr Fei Gao
Krutik Patel
Dr Ana Topf
et al. | Neuromuscular disease genetics in under-represented populations: increasing data diversity | 2023 |
|
Dr Kyle Thompson
Benjamin Munro
Dr Daria Diodato
Professor Rita Horvath
Professor Robert Taylor
| Elucidating the molecular mechanisms associated with TARS2-related mitochondrial disease | 2022 |
|
Dr Tina Biss
Dr Paul Brennan
Philip Griffiths
Professor Rita Horvath
Professor Patrick Chinnery
et al. | GWAS meta-analysis of intrahepatic cholestasis of pregnancy implicates multiple hepatic genes and regulatory elements | 2022 |
|
Dr Ana Topf
Professor Hanns Lochmuller
Professor Rita Horvath
Dr Andreas Roos
| Novel insights into PORCN mutations, associated phenotypes and pathophysiological aspects | 2022 |
|
Professor Grainne Gorman
Professor Rita Horvath
Dr Richard Quinton
Dr Andrew Schaefer
Dr Patrick Yu Wai Man
et al. | 100,000 genomes pilot on rare-disease diagnosis in health care — Preliminary report | 2021 |
|
Sunitha Balaraju
Dr Ana Topf
Professor Rita Horvath
| Autosomal recessive variants in TUBGCP2 alter the γ-tubulin ring complex leading to neurodevelopmental disease | 2021 |
|
Dr Ana Topf
Dr Angela Pyle
Dr Helen Griffin
Professor Patrick Chinnery
Dr Andreas Roos
et al. | Exome reanalysis and proteomic profiling identified TRIP4 as a novel cause of cerebellar hypoplasia and spinal muscular atrophy (PCH1) | 2021 |
|
Dr Ana Topf
Professor Hanns Lochmuller
Professor Rita Horvath
Dr Andreas Roos
| Molecular pathophysiology of human MICU1 deficiency | 2021 |
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