| A KLHL40 3’ UTR splice-altering variant causes milder NEM8, an under-appreciated disease mechanism LNH Dofash, GV Monahan, E Servián-Morilla, E Rivas, F Faiz, P Sullivan, ... Human molecular genetics 32 (7), 1127-1136, 2023 | 5 | 2023 |
| A CCG expansion in ABCD3 causes oculopharyngodistal myopathy in individuals of European ancestry A Cortese, SJ Beecroft, S Facchini, R Curro, M Cabrera-Serrano, ... medRxiv, 2023.10. 09.23296582, 2023 | 5 | 2023 |
| CONGENITAL MYOPATHIES–NEMALINE MYOPATHIES: EP. 34 3′ UTR variant in KLHL40 causes nemaline myopathy L Dofash, F Faiz, E Servian-Morilla, E Rivas, P Sullivan, E Oates, ... Neuromuscular Disorders 31, S60, 2021 | 2 | 2021 |
| Ablation of the carboxy-terminal end of MAMDC2 causes a distinct muscular dystrophy F Mavillard, E Servian-Morilla, L Dofash, I Rojas-Marcos, C Folland, ... Brain 146 (12), 5235-5248, 2023 | 1 | 2023 |
| Biallelic variants in HMGCS1 are a novel cause of rare rigid spine syndrome LNH Dofash, LB Miles, Y Saito, E Rivas, V Calcinotto, S Oveissi, ... medRxiv, 2023.10. 25.23297129, 2023 | 1 | 2023 |
| Loss-of-function variants in JPH1 cause congenital myopathy with prominent facial involvement M Johari, A Topf, C Folland, J Duff, L Dofash, P Marti, T Robertson, ... medRxiv, 2024.02. 10.24302480, 2024 | | 2024 |
| Biallelic variants inHMGCS1are a novel cause of rare rigid spine syndrome LN Dofash, LB Miles, Y Saito, E Rivas, V Calcinotto, S Oveissi, ... | | 2023 |
| P. 01 A KLHL40 3′ UTR splice-altering variant causes milder NEM8 L Dofash, G Monahan, E Servián-Morilla, E Rivas, F Faiz, P Sullivan, ... Neuromuscular Disorders 32, S45, 2022 | | 2022 |
| Investigating Genetic Causes of Mendelian Congenital Myopathies L Dofash Curtin University, 2022 | | 2022 |
