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Select Publications
Conference Abstracts
, 2024, 'Dietary management in MPV17-related depletion syndrome pre- and post- liver transplant: A case study', in Molecular Genetics and Metabolism, Elsevier, Vol. 141, pp. 108207, http://dx.doi.org/10.1016/j.ymgme.2024.108207
, 2018, 'Next generation sequencing (NGS) for mitochondrial respiratory chain disorders (MRCD): new genes, cautionary tales and lessons learnt', in EUROPEAN JOURNAL OF HUMAN GENETICS, SPRINGERNATURE, ITALY, Milan, Vol. 27, pp. 198 - 199, presented at 51st Conference of the European-Society-of-Human-Genetics (ESHG) in conjunction with the European Meeting on Psychosocial Aspects of Genetics (EMPAG), ITALY, Milan, 16 June 2018 - 19 June 2018
Preprints
, ‘The psychosocial impact of childhood dementia on children and their parents: A systematic review’, http://dx.doi.org/10.21203/rs.3.rs-2282768/v1
, GLRX5-associated [Fe-S] Cluster Biogenesis Disorder: Further Characterisation of the Neurological Phenotype and Long-term Outcome., http://dx.doi.org/10.21203/rs.3.rs-614803/v1
, The Australian Genomics Mitochondrial Flagship: A National Program Delivering Mitochondrial Diagnoses, http://dx.doi.org/10.1101/2023.11.08.23298009