Alexandre Xavier

1.         Xavier, A., et al., DNA Methylation Signatures of Multiple Sclerosis Occur Independently of Known Genetic Risk and Are Primarily Attributed to B Cells and Monocytes. International Journal of Molecular Sciences, 2023. 24(16): p. 12576.

2.         Xavier, A., et al., Interferon Beta treatment is a potent and targeted epigenetic modifier in multiple sclerosis. Frontiers in Immunology, 2023. 14.

3.         Steffens Reinhardt, L., et al., p53 Dysregulation in Breast Cancer: Insights on Mutations in the TP53 Network and p53 Isoform Expression. Int J Mol Sci, 2023. 24(12).

4.         Singh, A.K., et al., Detection of germline variants with pathogenic potential in 48 patients with familial colorectal cancer by using whole exome sequencing. BMC Med Genomics, 2023. 16(1): p. 126.

5.         Maltby, V., et al., Evaluation of Cell-Specific Epigenetic Age Acceleration in People With Multiple Sclerosis. Neurology, 2023.

6.         Kiltschewskij, D.J., et al., Alteration of DNA Methylation and Epigenetic Scores Associated with Features of Schizophrenia and Common Variant Genetic Risk. Biol Psychiatry, 2023.

7.         Campagna, M.P., et al., Parity is associated with long-term differences in DNA methylation at genes related to neural plasticity in multiple sclerosis. Clinical Epigenetics, 2023. 15(1).

8.         Campagna, M.P., et al., Whole-blood methylation signatures are associated with and accurately classify multiple sclerosis disease severity. Clin Epigenetics, 2022. 14(1): p. 194.

9.         Xavier, A., R.J. Scott, and B. Talseth-Palmer, Exome sequencing of familial adenomatous polyposis-like individuals identifies both known and novel causative genes. Clinical Genetics, 2021. 100(4): p. 478-483.

10.       Campagna, M.P., et al., Epigenome-wide association studies: current knowledge, strategies and recommendations. Clinical Epigenetics, 2021. 13(1).

11.       Singh, A.K., et al., Targeted sequencing of genes associated with the mismatch repair pathway in patients with endometrial cancer. Plos One, 2020. 15(7).

12.       Maltby, V.E., et al., Epigenetic differences at the HTR2A locus in progressive multiple sclerosis patients. Scientific Reports, 2020. 10(1).

13.       Xavier, A., R.J. Scott, and B.A. Talseth-Palmer, TAPES: A tool for assessment and prioritisation in exome studies. Plos Computational Biology, 2019. 15(10).

14.       Xavier, A., et al., Comprehensive mismatch repair gene panel identifies variants in patients with Lynch-like syndrome. Molecular Genetics & Genomic Medicine, 2019. 7(8).

15.       Hansen, M.F., et al., Use of multigene-panel identifies pathogenic variants in several CRC-predisposing genes in patients previously tested for Lynch Syndrome. Clinical Genetics, 2017. 92(4): p. 405-414.

• October 2022 - Functional epigenetic networks are associated with Multiple Sclerosis – ECTRIMS 2022 - Top poster award
• May 2022 - How I wrote my first package; TAPES: A tool for assessment and prioritisation in exome
• studies - The University of Newcastle Bioinformatics Users Group (NuBUGs) – Invited speaker
• October 2021 - Identifying genetic and epigenetic signatures for predicting conversion to clinically definite multiple sclerosis in the AusLong study cohort – ECTRIMS 2021 - Oral
• September 2020 - Deconvolution of epigenetic profiles reveals blood cell-specific pathways associated with early-stage Multiple Sclerosis in the Ausimmune Study, ECTRIMS/ACTRIMS joint meeting - Oral
• May 2019 - TAPES: a Tool for Assessment and Prioritisation in Exome Studies, ASMR Satellite Meeting, Newcastle – Poster