Dr Pietro Riguzzi
Meredith James
Dr John Bourke
Professor Giorgio Tasca
Dr Marianela Schiava
et al. | Characterisation of a large, single-centre cohort of patients with Becker muscular dystrophy to inform standardised care guidelines | 2025 |
|
Jose Verdú-Díaz
Dr Ana Topf
Dr Leonela Luce
Dr Jennifer Duff
Magdalena Mroczek
et al. | Clinical and imaging spectrum of non-congenital dominant ACTN2 myopathy | 2025 |
|
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 |
|
Dr Ana Topf
| Correction to: Structural variant calling and clinical interpretation in 6224 unsolved rare disease exomes (European Journal of Human Genetics, (2024), 32, 8, (998-1004), 10.1038/s41431-024-01637-4) | 2025 |
|
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 |
|
Sila Hopton
Dr Langping He
Dr Charlotte Alston
Professor Robert Taylor
Dr Ana Topf
et al. | Late-onset multiple-acyl-CoA-dehydrogenase deficiency-like condition: a case series from the West of Scotland | 2025 |
|
Dr Ana Topf
Dr Anna Sarkozy
| Multi-omics approach identifies a novel recessive pathogenic variant in the TNNT3 gene in two siblings with congenital myopathy | 2025 |
|
Dr Goknur Kocak
Dr Ana Topf
Professor Chiara Marini Bettolo
Dr Lizzie Harris
Professor Volker Straub
| Novel HSPB8 mutations in severe early-onset myopathy with involvement of respiratory and cardiac muscles cause proteostasis defects in cell models | 2025 |
|
Dr Ana Topf
| The Solve-RD Solvathons as a pan-European interdisciplinary collaboration to diagnose patients with rare disease | 2025 |
|
Alba Segarra Casas
Yolande Parkhurst
Robert Muni Lofra
Professor Chiara Marini Bettolo
Professor Volker Straub
et al. | An Integrated Transcriptomics and Genomics Approach Detects an X/Autosome Translocation in a Female with Duchenne Muscular Dystrophy | 2024 |
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Dr Ana Topf
Dr Karin Engelhardt
Professor Sophie Hambleton
Professor Jordi Diaz Manera
Professor Chiara Marini Bettolo
et al. | Comprehensive reanalysis for CNVs in ES data from unsolved rare disease cases results in new diagnoses | 2024 |
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Dr Ana Topf
Daniel Cox
Dr Valeria Di Leo
Professor Chiara Marini Bettolo
Professor Jordi Diaz Manera
et al. | Digenic inheritance involving a muscle-specific protein kinase and the giant titin protein causes a skeletal muscle myopathy | 2024 |
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Professor Volker Straub
Dr Ana Topf
| Dominant stop-loss HNRNPA1 variants in juvenile-onset myopathy | 2024 |
|
Dr Ana Topf
Dr Jennifer Duff
Dr Lizzie Harris
Professor Chiara Marini Bettolo
Professor Volker Straub
| Loss-of-function variants in JPH1 cause congenital myopathy with prominent facial and ocular involvement | 2024 |
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