| International consensus guidelines for phosphoglucomutase 1 deficiency (PGM1‐CDG): diagnosis, follow‐up, and management R Altassan, S Radenkovic, AC Edmondson, R Barone, S Brasil, ... Journal of inherited metabolic disease 44 (1), 148-163, 2021 | 40 | 2021 |
| Smith-Lemli-Opitz syndrome: clinical and biochemical correlates SE Donoghue, JJ Pitt, A Boneh, SM White Journal of Pediatric Endocrinology and Metabolism 31 (4), 451-459, 2018 | 39 | 2018 |
| Malignant brain tumors in patients with glutaric aciduria type I AS Russi, S Donoghue, A Boneh, R Manara, AB Burlina, AP Burlina Molecular Genetics and Metabolism 125 (3), 276-280, 2018 | 24 | 2018 |
| Early‐onset vitamin B6‐dependent epilepsy due to pathogenic PLPBP variants in a premature infant: A case report and review of the literature O Heath, J Pitt, S Mandelstam, C Kuschel, A Vasudevan, S Donoghue JIMD Reports, 2020 | 18 | 2020 |
| Galactose treatment of a PGM1 patient presenting with restrictive cardiomyopathy SE Donoghue, SM White, TY Tan, R Kowalski, E Morava, J Yaplito‐Lee JIMD Reports, 2020 | 13 | 2020 |
| Advances in genomic testing L Downie, S Donoghue, C Stutterd Australian Family Physician 46 (4), 200-204, 2017 | 8 | 2017 |
| Distinct diagnostic trajectories in NBAS-associated acute liver failure highlights the need for timely functional studies LS Akesson, R Rius, NJ Brown, J Rosenbaum, S Donoghue, M Stormon, ... JIMD Reports, 2022 | 3 | 2022 |
| Acute liver dysfunction with delayed peak of serum aminotransferase levels as a presentation of ornithine transcarbamylase deficiency in females AA Kathryn Clarkston, Joy Lee, Sarah Donoghue, Heidi Peters, Hernan Eiroa ... American Journal of Medical Genetics Part A 185 (3), 909-915, 2021 | 3 | 2021 |
| Free urinary sialic acid levels may be elevated in patients with pneumococcal sepsis SE Donoghue, O Heath, J Pitt, KM Hong, M Fuller, J Smith Clinical Chemistry and Laboratory Medicine (CCLM) 60 (11), 1855-1858, 2022 | 1 | 2022 |
| The Mendelian disorders of chromatin machinery: Harnessing metabolic pathways and therapies for treatment S Donoghue, J Wright, AK Voss, PJ Lockhart, DJ Amor Molecular Genetics and Metabolism, 108360, 2024 | | 2024 |
| Case series on patients with delayed diagnosis of mild/moderate alpha-mannosidosis KM Stepien, JB Hennermann, MA Curiati, S Donoghue, JH Nurse Molecular Genetics and Metabolism 141 (2), 108051, 2024 | | 2024 |
| Intellectual disability: A potentially treatable condition SE Donoghue, DJ Amor Journal of Paediatrics and Child Health, 2024 | | 2024 |
| Developmental regression with early feeding difficulties and characteristic neuroimaging features of H-ABC in an infant from a TUBB4A genetic variant B Charles-Britton, YL Leong, D Clark, M Lynch, SE Donoghue Journal of Paediatrics and Child Health, 2023 | | 2023 |
| 2772 New diagnosis of mitochondrial encephalopathy, lactic acidosis, and stroke-like episodes (MELAS) presenting as bilateral cerebral infarcts O Swarup, N Yassi, T Fazio, S Donoghue, S Davis BMJ Neurology Open 5 (Suppl 1), 2023 | | 2023 |
| Novel chorioretinal findings in two siblings with mucopolysaccharidosis type VI HGM Tanya Kowalski, Sarah Donoghue, Gerard de Jong Ophthalmic genetics, 2022 | | 2022 |
| Incidental finding of Krabbe disease in a family with a child diagnosed with MPSI: the significance of the c. 956A> G (p. Tyr319Cys) variant S Donoghue, T Fazio, J Panetta, G De Jong, M Eggington, J Pitt, M Fuller Journal of Inherited Metabolic Disease 44 (S1), 36, 2021 | | 2021 |
| Predictors of Efficiency of in Hospital Treatment in Children with Cystic Fibrosis S Donoghue University of Tasmania, 2004 | | 2004 |
