| Sequential targeted exome sequencing of 1001 patients affected by unexplained limb-girdle weakness A Töpf, K Johnson, A Bates, L Phillips, KR Chao, EM England, ... Genetics in medicine 22 (9), 1478-1488, 2020 | 71 | 2020 |
| Detection of variants in dystroglycanopathy-associated genes through the application of targeted whole-exome sequencing analysis to a large cohort of patients with unexplained … K Johnson, M Bertoli, L Phillips, A Töpf, P Van den Bergh, J Vissing, ... Skeletal muscle 8, 1-12, 2018 | 44 | 2018 |
| Limb girdle muscular dystrophy due to mutations in POMT2 ST Østergaard, K Johnson, T Stojkovic, T Krag, W De Ridder, ... Journal of Neurology, Neurosurgery & Psychiatry 89 (5), 506-512, 2018 | 31 | 2018 |
| Downregulation of miRNA-29,-23 and-21 in urine of Duchenne muscular dystrophy patients F Catapano, J Domingos, M Perry, V Ricotti, L Phillips, L Servais, ... Epigenomics 10 (7), 875-889, 2018 | 24 | 2018 |
| A novel recessive TTN founder variant is a common cause of distal myopathy in the Serbian population S Perić, JN Glumac, A Töpf, D Savić-Pavićević, L Phillips, K Johnson, ... European Journal of Human Genetics 25 (5), 572-581, 2017 | 24 | 2017 |
| Identification of GAA variants through whole exome sequencing targeted to a cohort of 606 patients with unexplained limb-girdle muscle weakness K Johnson, A Töpf, M Bertoli, L Phillips, KG Claeys, VR Stojanovic, ... Orphanet Journal of Rare Diseases 12, 1-11, 2017 | 22 | 2017 |
| MRC Centre Neuromuscular Biobank (Newcastle and London): supporting and facilitating rare and neuromuscular disease research worldwide M Reza, D Cox, L Phillips, D Johnson, V Manoharan, M Grieves, B Davis, ... Neuromuscular Disorders 27 (11), 1054-1064, 2017 | 18 | 2017 |
| Extending the clinical and mutational spectrum of TRIM32-related myopathies in a non-Hutterite population K Johnson, W De Ridder, A Töpf, M Bertoli, L Phillips, P De Jonghe, ... Journal of Neurology, Neurosurgery & Psychiatry 90 (4), 490-493, 2019 | 14 | 2019 |
| A homozygous DPM3 mutation in a patient with alpha-dystroglycan-related limb girdle muscular dystrophy PYK Van den Bergh, Y Sznajer, V Van Parys, W van Tol, RA Wevers, ... Neuromuscular Disorders 27 (11), 1043-1046, 2017 | 14 | 2017 |
| T cell responses to dystrophin in a natural history study of Duchenne muscular dystrophy K Anthony, P Ala, F Catapano, J Meng, J Domingos, M Perry, V Ricotti, ... Human Gene Therapy 34 (9-10), 439-448, 2023 | 6 | 2023 |
| Novel free-circulating and extracellular vesicle-derived miRNAs dysregulated in Duchenne muscular dystrophy F Catapano, D Scaglioni, K Maresh, P Ala, J Domingos, V Selby, V Ricotti, ... Epigenomics 12 (21), 1899-1915, 2020 | 6 | 2020 |
| Disruption of embryonic ROCK signaling reproduces the sarcomeric phenotype of hypertrophic cardiomyopathy KE Bailey, GA MacGowan, S Tual-Chalot, L Phillips, TJ Mohun, ... JCI insight 5 (24), e146654, 2020 | 2 | 2020 |
| Downregulation of miR-29 and miR-23 in urine of Duchenne muscular dystrophy patients F Catapano, J Domingos, M Perry, V Ricotti, L Phillips, L Servais, ... Neuromuscular Disorders 28, S18-S19, 2018 | 1 | 2018 |
| VP. 24 T Cell-mediated immune response to dystrophin in Duchenne muscular dystrophy-A natural history study K Anthony, P Ala, F Catapano, J Meng, J Domingos, M Perry, V Ricotti, ... Neuromuscular Disorders 32, S71, 2022 | | 2022 |
| Sodium-dependent multivitamin transporter: a potential novel cause of cardiomyopathy LC Phillips Newcastle University, 2021 | | 2021 |
| P. 144A cross sectional and longitudinal miRNA profiling study identified a set of novel free-circulating and exosomal miRNAs dysregulated in plasma from Duchenne muscular … F Catapano, D Scaglioni, K Maresh, V Selby, P Ala, J Domingos, V Ricotti, ... Neuromuscular Disorders 29, S90, 2019 | | 2019 |
| A cross-sectional and longitudinal study on plasma derived miRNAs revealed novel dysregulated signatures in Duchenne muscular dystrophy patients F Catapano, D Scaglioni, K Maresh, J Domingos, P Ala, V Ricotti, ... EUROPEAN JOURNAL OF CLINICAL INVESTIGATION 49, 89-89, 2019 | | 2019 |
| Corrigendum to “A homozygous DPM3 mutation in a patient with alpha-dystroglycan-related limb girdle muscular dystrophy”[Neuromuscular disorders 27/11 (2017) 1043–1046] PYK Van den Bergh, Y Sznajer, V Van Parys, W van Tol, RA Wevers, ... Neuromuscular disorders 28 (1), 101, 2018 | | 2018 |
| Detection of variants in dystroglycanopathy-associated genes through the application of targeted whole-exome sequencing analysis to a large cohort of patients with unexplained … A Lusakowska, A Topf, P Van den Bergh, J Vissing, N Witting, S Nafissi, ... | | |
| Sequential targeted exome sequencing of 1001 patients affected by unexplained limb-girdle weakness EM England, A Toepf, K Johnson, A Bates, L Phillips, KR Chao, ... | | |
