| Standardized practices for RNA diagnostics using clinically accessible specimens reclassifies 75% of putative splicing variants AM Bournazos, LG Riley, S Bommireddipalli, L Ades, LS Akesson, ... Genetics in medicine 24 (1), 130-145, 2022 | 49 | 2022 |
| Incorrect dosage of IQSEC2, a known intellectual disability and epilepsy gene, disrupts dendritic spine morphogenesis SJ Hinze, MR Jackson, S Lie, L Jolly, M Field, SC Barry, RJ Harvey, ... Translational Psychiatry 7 (5), e1110-e1110, 2017 | 31 | 2017 |
| Lentiviral-mediated gene therapy results in sustained expression of β-glucuronidase for up to 12 Months in the gus mps/mps and up to 18 Months in the gus tm (L175F) sly mouse … ALK Derrick-Roberts, CE Pyragius, XM Kaidonis, MR Jackson, DS Anson, ... Human gene therapy 25 (9), 798-810, 2014 | 27 | 2014 |
| Heterozygous loss of function of IQSEC2/Iqsec2 leads to increased activated Arf6 and severe neurocognitive seizure phenotype in females MR Jackson, KE Loring, CC Homan, MHN Thai, L Määttänen, M Arvio, ... Life science alliance 2 (4), 2019 | 22 | 2019 |
| Substrate deprivation therapy to reduce glycosaminoglycan synthesis improves aspects of neurological and skeletal pathology in MPS I mice ALK Derrick-Roberts, MR Jackson, CE Pyragius, S Byers Diseases 5 (1), 5, 2017 | 20 | 2017 |
| Integrated multi-omics for rapid rare disease diagnosis on a national scale S Lunke, SE Bouffler, CV Patel, SA Sandaradura, M Wilson, J Pinner, ... Nature medicine 29 (7), 1681-1691, 2023 | 18 | 2023 |
| Genomic autopsy to identify underlying causes of pregnancy loss and perinatal death AB Byrne, P Arts, TT Ha, KS Kassahn, LS Pais, A O’Donnell-Luria, ... Nature Medicine 29 (1), 180-189, 2023 | 17 | 2023 |
| Gonadal mosaicism of a novel IQSEC2 variant causing female limited intellectual disability and epilepsy LJ Ewans, M Field, Y Zhu, G Turner, M Leffler, ME Dinger, MJ Cowley, ... European Journal of Human Genetics 25 (6), 763-767, 2017 | 16 | 2017 |
| Mucopolysaccharidosis enzyme production by bone marrow and dental pulp derived human mesenchymal stem cells M Jackson, AD Roberts, E Martin, N Rout-Pitt, S Gronthos, S Byers Molecular Genetics and Metabolism 114 (4), 584-593, 2015 | 16 | 2015 |
| Delayed development of ossification centers in the tibia of prenatal and early postnatal MPS VII mice Z Jiang, ALK Derrick-Roberts, MR Jackson, C Rossouw, CE Pyragius, ... Molecular Genetics and Metabolism 124 (2), 135-142, 2018 | 14 | 2018 |
| Splice variant in ARX leading to loss of C‐terminal region in a boy with intellectual disability and infantile onset developmental and epileptic encephalopathy C Shoubridge, M Jackson, B Grinton, SF Berkovic, IE Scheffer, S Huskins, ... American Journal of Medical Genetics Part A 179 (8), 1483-1490, 2019 | 10 | 2019 |
| Extensive phenotyping of two ARX polyalanine expansion mutation mouse models that span clinical spectrum of intellectual disability and epilepsy MR Jackson, K Lee, T Mattiske, EJ Jaehne, E Ozturk, BT Baune, ... Neurobiology of disease 105, 245-256, 2017 | 10 | 2017 |
| Shariant platform: Enabling evidence sharing across Australian clinical genetic-testing laboratories to support variant interpretation E Tudini, J Andrews, DM Lawrence, SL King-Smith, N Baker, L Baxter, ... The American Journal of Human Genetics 109 (11), 1960-1973, 2022 | 8 | 2022 |
| Expanding the phenotype of NUP85 mutations beyond nephrotic syndrome to primary autosomal recessive microcephaly and Seckel syndrome spectrum disorders E Ravindran, R Jühlen, CH Vieira-Vieira, T Ha, Y Salzberg, B Fichtman, ... Human molecular genetics 30 (22), 2068-2081, 2021 | 8 | 2021 |
| Early 17β-estradiol treatment reduces seizures but not abnormal behaviour in mice with expanded polyalanine tracts in the Aristaless related homeobox gene (ARX) KE Loring, T Mattiske, K Lee, A Zysk, MR Jackson, JL Noebels, ... Neurobiology of Disease 153, 105329, 2021 | 6 | 2021 |
| Al‐Gazali Skeletal Dysplasia Constitutes the Lethal End of ADAMTSL2‐Related Disorders D Batkovskyte, F McKenzie, F Taylan, PO Simsek‐Kiper, SM Nikkel, ... Journal of Bone and Mineral Research 38 (5), 692-706, 2020 | 6 | 2020 |
| Innovative treatments for mucopolysaccharidoses FB Lagler Journal of Child Science 8 (01), e163-e171, 2018 | 5 | 2018 |
| Investigation of current models of care for genetic heart disease in Australia: A national clinical audit R Austin, MCJ Quinn, C Afoakwah, A Metke-Jimenez, H Leroux, ... International Journal of Cardiology 330, 128-134, 2021 | 4 | 2021 |
| Comparative analysis of brain pathology in heparan sulphate storing mucopolysaccharidoses A Derrick-Roberts, X Kaidonis, MR Jackson, WC Liaw, XD Ding, C Ong, ... Molecular Genetics and Metabolism 131 (1-2), 197-205, 2020 | 4 | 2020 |
| Introme accurately predicts the impact of coding and noncoding variants on gene splicing, with clinical applications PJ Sullivan, V Gayevskiy, RL Davis, M Wong, C Mayoh, ... Genome Biology 24 (1), 118, 2023 | 3 | 2023 |
