Dr Maha Elseed Dr James Sampson Dr Tuomo Polvikoski Matt Henderson Yolande Parkhurst et al. | Desmoid tumour: a rare cause of congenital unilateral calf enlargement mimicking calf hypertrophy | 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 |
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Dr Marta Bertoli
| Large-scale evaluation of outcomes after a genetic diagnosis in children with severe developmental disorders | 2024 |
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Dr Marta Bertoli
| Pathogenic variants in KMT2C result in a neurodevelopmental disorder distinct from Kleefstra and Kabuki syndromes | 2024 |
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Dr Marta Bertoli Jessica Zambonin
| The phenotype of MEGF8-related Carpenter syndrome (CRPT2) is refined through the identification of eight new patients | 2024 |
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Laura Powell Dr Eric Olinger Dr Sarah Rice Miguel Barroso Gil Ian Wilson et al. | Identification of LAMA1 mutations ends diagnostic odyssey and has prognostic implications for patients with presumed Joubert syndrome | 2021 |
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Dr Laura Yates Dr Marta Bertoli
| Nine newly identified individuals refine the phenotype associated with MYT1L mutations | 2020 |
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Dr Ana Topf Dr Katherine Johnson Adam Bates Lauren Charlotte Phillips Phillips Dr Marta Bertoli et al. | Sequential targeted exome sequencing of 1001 patients affected by unexplained limb-girdle weakness | 2020 |
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Dr Marta Bertoli Dr Simon Zwolinski Dr Rhys Thomas
| Widening of the genetic and clinical spectrum of Lamb–Shaffer syndrome, a neurodevelopmental disorder due to SOX5 haploinsufficiency | 2020 |
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Dr Katherine Johnson Dr Ana Topf Dr Marta Bertoli Lauren Charlotte Phillips Phillips Dr James Miller et al. | Extending the clinical and mutational spectrum of TRIM32-related myopathies in a non-Hutterite population | 2019 |
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Dr Marta Bertoli
| Autosomal recessive primary microcephaly due to ASPM mutations: An update | 2018 |
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Dr Katherine Johnson Dr Marta Bertoli Lauren Charlotte Phillips Phillips Dr Ana Topf Roberto Fernandez-Torron et al. | Detection of variants in dystroglycanopathy-associated genes through the application of targeted whole-exome sequencing analysis to a large cohort of patients with unexplained limb-girdle muscle weakness | 2018 |
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Dr Marta Bertoli
| Mesomelia-synostoses syndrome: Description of a patient presenting a monoallelic expression of SULF1 without alterations in the SLCOA1 gene | 2018 |
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Dr Marta Bertoli Professor Chiara Marini Bettolo Professor Hanns Lochmuller Professor Volker Straub Emerita Professor Katherine Bushby et al. | Mobility shift of beta-dystroglycan as a marker of GMPPB gene-related muscular dystrophy | 2018 |
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Lauren Charlotte Phillips Phillips Dr Katherine Johnson Dr Marta Bertoli Professor Hanns Lochmuller Professor Volker Straub et al. | A novel recessive TTN founder variant is a common cause of distal myopathy in the Serbian population | 2017 |
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Dr Lizzie Harris Dr Umar Burki Professor Chiara Marini Bettolo Dr Marta Bertoli Dr Teresinha Evangelista et al. | Complex phenotypes associated with STIM1 mutations in both coiled coil and EF-hand domains | 2017 |
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Dr Lizzie Harris Dr Ana Topf Dr Rita Barresi Dr Debbie Hicks Dr Anna Porter et al. | Exome sequences versus sequential gene testing in the UK highly specialised Service for Limb Girdle Muscular Dystrophy | 2017 |
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Dr Katherine Johnson Dr Ana Topf Dr Marta Bertoli Lauren Phillips Professor Volker Straub et al. | Identification of GAA variants through whole exome sequencing targeted to a cohort of 606 patients with unexplained limb-girdle muscle weakness | 2017 |
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Brid Crowley Professor Volker Straub Dr Marta Bertoli
| Multidisciplinary clinics | 2017 |
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Dr Marta Bertoli Dr Anne Lampe Professor Volker Straub
| Structural analysis of pathogenic mutations in the DYRK1A gene in patients with developmental disorders | 2017 |
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