Dr Mojgan Reza
Daniel Cox
Lauren Phillips
Michael Grieves
Rebecca Crow
et al. | MRC Centre Neuromuscular Biobank (Newcastle and London): Supporting and facilitating rare and neuromuscular disease research worldwide | 2017 |
|
Dr Ana Topf
Dr Jelena Nikodinovic Glumac
Dr Marta Bertoli
Dr Katherine Johnson
Lauren Phillips
et al. | A recessive TTN founder mutation causes a distal myopathy phenotype in a Serbian cohort | 2016 |
|
Dr Katherine Johnson
Dr Marta Bertoli
Lauren Phillips
Dr Ana Topf
Professor Volker Straub
et al. | Application of exome sequencing technologies: A case study of patients with unexplained limb-girdle muscle weakness harbouring GAA mutations | 2016 |
|
Lauren Phillips
Dr Ana Topf
Dr Katherine Johnson
Dr Marta Bertoli
Professor Volker Straub
et al. | Identification of sequence variants in eight genes associated with dystroglycanopathies using whole exome sequencing | 2016 |
|
Dr Katherine Johnson
Dr Marta Bertoli
Lauren Phillips
Dr Ana Topf
Professor Volker Straub
et al. | The MYO-SEQ project: Application of exome sequencing technologies to 1000 patients affected by limb-girdle weakness of unknown origin | 2016 |
|
