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DSM staff profile

Mr Ben Halliday

PositionPhD student
DepartmentDepartment of Women's and Children's Health (Dunedin)
QualificationsBSc(Hons)
Research summaryGenomic analysis of periventricular nodular heterotopia

Publications

Bach, A., Mi, J., Hunter, M., Halliday, B. J., García-Miñaúr, S., Sperotto, F., … Robertson, S. P. (2020). Wilms tumor in patients with osteopathia striata with cranial sclerosis. European Journal of Human Genetics. Advance online publication. doi: 10.1038/s41431-020-00718-4

Ng, B. G., Dastsooz, H., Silawi, M., Habibzadeh, P., Jahan, S. B., Fard, M. A. F., Halliday, B. J., … Robertson, S. P., … Freeze, H. H. (2020). Expanding the molecular and clinical Ppenotypes of FUT8-CDG. Journal of Inherited Metabolic Disease, 43, 871-879. doi: 10.1002/jimd.12221

Harms, F. L., Parthasarathy, P., Zorndt, D., Alawi, M., Fuchs, S., Halliday, B. J., … Robertson, S. P., … Kutsche, K. (2020). Biallelic loss-of-function variants in TBC1D2B cause a neurodevelopmental disorder with seizures and gingival overgrowth. Human Mutation, 41, 1645-1661. doi: 10.1002/humu.24071

Wade, E. M., Halliday, B. J., Jenkins, Z. A., O'Neill, A. C., & Robertson, S. P. (2020). The X-linked filaminopathies: Synergistic insights from clinical and molecular analysis. Human Mutation, 41, 865-883. doi: 10.1002/humu.24002

Driver, S. G. W., Jackson, M. R., Richter, K., Tomlinson, P., Brockway, B., Halliday, B. J., Markie, D. M., Robertson, S. P., & Wade, E. M. (2020). Biallelic variants in EFEMP1 in a man with a pronounced connective tissue phenotype. European Journal of Human Genetics, 28, 445-452. doi: 10.1038/s41431-019-0546-7

Journal - Research Article

Bach, A., Mi, J., Hunter, M., Halliday, B. J., García-Miñaúr, S., Sperotto, F., … Robertson, S. P. (2020). Wilms tumor in patients with osteopathia striata with cranial sclerosis. European Journal of Human Genetics. Advance online publication. doi: 10.1038/s41431-020-00718-4

Harms, F. L., Parthasarathy, P., Zorndt, D., Alawi, M., Fuchs, S., Halliday, B. J., … Robertson, S. P., … Kutsche, K. (2020). Biallelic loss-of-function variants in TBC1D2B cause a neurodevelopmental disorder with seizures and gingival overgrowth. Human Mutation, 41, 1645-1661. doi: 10.1002/humu.24071

Ng, B. G., Dastsooz, H., Silawi, M., Habibzadeh, P., Jahan, S. B., Fard, M. A. F., Halliday, B. J., … Robertson, S. P., … Freeze, H. H. (2020). Expanding the molecular and clinical Ppenotypes of FUT8-CDG. Journal of Inherited Metabolic Disease, 43, 871-879. doi: 10.1002/jimd.12221

Halliday, B. J., Fukuzawa, R., Markie, D. M., Grundy, R. G., Ludgate, J. L., Black, M. A., … Weeks, R. J., … Morison, I. M. (2018). Germline mutations and somatic inactivation of TRIM28 in Wilms tumour. PLoS Genetics, 14(6), e1007399. doi: 10.1371/journal.pgen.1007399

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Journal - Research Other

Wade, E. M., Halliday, B. J., Jenkins, Z. A., O'Neill, A. C., & Robertson, S. P. (2020). The X-linked filaminopathies: Synergistic insights from clinical and molecular analysis. Human Mutation, 41, 865-883. doi: 10.1002/humu.24002

Driver, S. G. W., Jackson, M. R., Richter, K., Tomlinson, P., Brockway, B., Halliday, B. J., Markie, D. M., Robertson, S. P., & Wade, E. M. (2020). Biallelic variants in EFEMP1 in a man with a pronounced connective tissue phenotype. European Journal of Human Genetics, 28, 445-452. doi: 10.1038/s41431-019-0546-7

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