| 2025 |
Tiller, J., Finlay, K., Madelli, E. O., Monnik, M., Jackson, M. R., Poplawski, N., . . . Otlowski, M. (2025). Patients’ perspectives regarding health professionals contacting their relatives about genetic risk directly (with patient consent). European Journal of Human Genetics, 33(4), 485-495.
DOI Scopus5 WoS5 Europe PMC4 |
| 2025 |
Schubert, C. M., Jackson, M. R., Barnett, C. P., Scott, H. S., Sullivan, T., Goodall, S., . . . Genomic Autopsy Study Research Network. (2025). Evaluating the Clinical Utility of Genomic Sequencing After Perinatal Death. Clinical Genetics, online(1), 13 pages.
DOI |
| 2025 |
Arthurs, A. L., Jackson, M. R., McCULLOUGH, D., Scott, H. S., Barnett, C. P., Webb, S. T., . . . Roberts, C. T. (2025). Circular RNAs accumulate in aging human placental tissue and in stillbirth, leading to DNA damage and cellular senescence.. American journal of obstetrics and gynecology, S0002-9378(25)00587-3.
DOI |
| 2025 |
Frank, M. S. B., Bennett, M. K., Ha, T. T., Moore, L., Arts, P., Byrne, A. B., . . . Scott, H. S. (2025). Atypical presentations of fetal polycystic kidney disease demonstrates the utility of a genomic autopsy for accurate post-mortem diagnoses. Human Genomics, 19(1, article no. 132), 1-13.
DOI |
| 2024 |
Rius, R., Compton, A. G., Baker, N. L., Balasubramaniam, S., Best, S., Bhattacharya, K., . . . Thorburn, D. R. (2024). The Australian Genomics Mitochondrial Flagship: A national program delivering mitochondrial diagnoses. Genetics in medicine : official journal of the American College of Medical Genetics, 27(1), 101271.
DOI Scopus5 WoS5 Europe PMC4 |
| 2024 |
Venugopal, P., Arts, P., Fox, L. C., Simons, A., Hiwase, D. K., Bardy, P. G., . . . Scott, H. S. (2024). Unravelling Facets of MECOM-Associated Syndrome: Somatic Genetic Rescue, Clonal Hematopoiesis and Phenotype Expansion. Blood Advances, 8(13), 3437-3443.
DOI Scopus4 WoS1 Europe PMC2 |
| 2023 |
Batkovskyte, D., McKenzie, F., Taylan, F., Simsek-Kiper, P. O., Nikkel, S. M., Ohashi, H., . . . Grigelioniene, G. (2023). Al-Gazali skeletal dysplasia constitutes the lethal end of ADAMTSL2-related disorders. Journal of Bone and Mineral Research, 38(5), 692-706.
DOI Scopus11 WoS11 Europe PMC12 |
| 2023 |
Byrne, A. B., Arts, P., Ha, T. T., Kassahn, K. S., Pais, L. S., O'Donnell-Luria, A., . . . Webber, D. L. (2023). Genomic autopsy to identify underlying causes of pregnancy loss and perinatal death. Nature Medicine, 29(1), 180-189.
DOI Scopus46 WoS40 Europe PMC36 |
| 2023 |
Sullivan, P. J., Gayevskiy, V., Davis, R. L., Wong, M., Mayoh, C., Mallawaarachchi, A., . . . Cowley, M. J. (2023). Introme accurately predicts the impact of coding and noncoding variants on gene splicing, with clinical applications. Genome Biology, 24(1, article no. 118), 1-18.
DOI Scopus13 WoS13 Europe PMC14 |
| 2023 |
Lunke, S., Bouffler, S. E., Patel, C. V., Sandaradura, S. A., Wilson, M., Pinner, J., . . . Stark, Z. (2023). Integrated multi-omics for rapid rare disease diagnosis on a national scale. Nature Medicine, 29(7), 1681-1691.
DOI Scopus92 WoS91 Europe PMC95 |
| 2022 |
Scott, H., Byrne, A., Arts, P., Ha, T., Kassahn, K., Pais, L., . . . Barnett, C. (2022). A genomic autopsy identifies causes of perinatal death and provides options to prevent recurrence.
DOI |
| 2021 |
Austin, R., Quinn, M. C. J., Afoakwah, C., Metke Jimenez, A., Jackson, M. R., & McGaughran, J. (2021). Investigation of current models of care for genetic heart disease in Australia: a national clinical audit. International Journal of Cardiology, 330, 128-134.
DOI Scopus2 WoS2 Europe PMC2 |
| 2021 |
Loring, K. E., Mattiske, T., Lee, K., Zysk, A., Jackson, M. R., Noebels, J. L., & Shoubridge, C. (2021). Early 17β-estradiol treatment reduces seizures but not abnormal behaviour in mice with expanded polyalanine tracts in the Aristaless related homeobox gene (ARX). Neurobiology of Disease, 153, 1-13.
DOI Scopus9 WoS9 Europe PMC11 |
| 2021 |
Ravindran, E., Jühlen, R., Vieira-Vieira, C. H., Ha, T., Salzberg, Y., Fichtman, B., . . . Kaindl, A. M. (2021). Expanding the phenotype of NUP85 mutations beyond nephrotic syndrome to primary autosomal recessive microcephaly and Seckel syndrome spectrum disorders. Human Molecular Genetics, 30(22), 2068-2081.
DOI Scopus14 WoS12 Europe PMC13 |
| 2021 |
Derrick-Roberts, A., Kaidonis, X., Jackson, M. R., Liaw, W. C., Ding, X., Ong, C., . . . Byers, S. (2021). Corrigendum to "Comparative analysis of brain pathology in heparan sulphate storing mucopolysaccharidosis" [Molecular Genetics and Metabolism 131 (2020) pages 197-205].. Molecular genetics and metabolism, 135(1), 114.
DOI |
| 2020 |
Derrick-Roberts, A., Kaidonis, X., Jackson, M. R., Liaw, W. C., Ding, X. D., Ong, C., . . . Byers, S. (2020). Comparative analysis of brain pathology in heparan sulphate storing mucopolysaccharidoses. Molecular Genetics and Metabolism, 131(1-2), 197-205.
DOI Scopus5 WoS6 Europe PMC5 |
| 2019 |
Shoubridge, C., Jackson, M., Grinton, B., Berkovic, S. F., Scheffer, I. E., Huskins, S., . . . Ware, T. (2019). Splice variant in ARX leading to loss of C-terminal region in a boy with intellectual disability and infantile onset developmental and epileptic encephalopathy. American Journal of Medical Genetics, Part A, 179(8), 1483-1490.
DOI Scopus9 WoS9 Europe PMC8 |
| 2019 |
Jackson, M. R., Loring, K. E., Homan, C. C., Thai, H. N., Määttänen, L., Arvio, M., . . . Shoubridge, C. (2019). Heterozygous loss of function of IQSEC2/Iqsec2 leads to increased activated Arf6 and severe neurocognitive seizure phenotype in females. Life Science Alliance, 2(4), e201900386-1-e201900386-18.
DOI Scopus19 WoS17 Europe PMC17 |
| 2018 |
Jiang, Z., Derrick-Roberts, A., Jackson, M., Rossouw, C., Pyragius, C., Xian, C., . . . Byers, S. (2018). Delayed development of ossification centers in the tibia of prenatal and early postnatal MPS VII mice. Molecular Genetics and Metabolism, 124(2), 135-142.
DOI Scopus13 WoS12 Europe PMC13 |
| 2017 |
Ewans, L. J., Field, M., Zhu, Y., Turner, G., Leffler, M., Dinger, M. E., . . . Shoubridge, C. (2017). Gonadal mosaicism of a novel IQSEC2 variant causing female limited intellectual disability and epilepsy. European Journal of Human Genetics, 25(6), 763-767.
DOI Scopus15 WoS15 Europe PMC13 |
| 2017 |
Hinze, S., Jackson, M., Lie, S., Jolly, L., Field, M., Barry, S., . . . Shoubridge, C. (2017). Incorrect dosage of IQSEC2, a known intellectual disability and epilepsy gene, disrupts dendritic spine morphogenesis. Translational Psychiatry, 7(5), e1110-1-e-1110-11.
DOI Scopus35 WoS36 Europe PMC30 |
| 2017 |
Jackson, M., Lee, K., Mattiske, T., Jaehne, E., Ozturk, E., Baune, B., . . . Shoubridge, C. (2017). Extensive phenotyping of two ARX polyalanine expansion mutation mouse models that span clinical spectrum of intellectual disability and epilepsy. Neurobiology of Disease, 105, 245-256.
DOI Scopus8 WoS8 Europe PMC7 |
| 2017 |
Derrick Roberts, A., Jackson, M., Pyragius, C., & Byers, S. (2017). Substrate deprivation therapy to reduce glycosaminoglycan synthesis improves aspects of neurological and skeletal pathology in MPS I mice. Diseases, 5(1), 5-1-5-16.
DOI Europe PMC16 |
| 2015 |
Jackson, M., Derrick Roberts, A., Martin, E., Rout-Pitt, N., Gronthos, S., & Byers, S. (2015). Mucopolysaccharidosis enzyme production by bone marrow and dental pulp derived human mesenchymal stem cells. Molecular Genetics and Metabolism, 114(4), 584-593.
DOI Scopus10 WoS11 Europe PMC11 |
| 2014 |
Derrick-Roberts, A., Pyragius, C., Kaidonis, X., Jackson, M., Anson, D., & Byers, S. (2014). 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 models of mucopolysaccharidosis type VII. Human Gene Therapy, 25(9), 798-810.
DOI Scopus19 WoS18 Europe PMC18 |
