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Dr Joanne Doherty
Timau a rolau for Joanne Doherty
Uwch Gymrawd Ymchwil Anrhydeddus
Trosolwyg
Rwy'n blentyn academaidd ac yn seiciatrydd ieuenctid sydd â diddordeb mewn datblygu ein dealltwriaeth o risg genetig ar gyfer cyflyrau niwroddatblygiadol a seiciatrig a gwella gofal clinigol i'r rhai a nodwyd fel rhai sydd mewn perygl uchel.
Mae fy ymchwil hyd yma wedi canolbwyntio ar amrywiolion rhif copi (CNVs) a'u cymdeithasau niwroddatblygiadol a seiciatryddol. Cwblheais PhD yn 2019 fel Cymrawd Hyfforddiant Ymchwil Trac Academaidd Clinigol Cymru ac Ymddiriedolaeth Wellcome, gan ymchwilio i gydbwysedd ataliol cynhyrfus mewn plant â syndrom dileu 22q11.2 gan ddefnyddio magnetoencecephalograffeg a delweddu cyseiniant magnetig. Ar hyn o bryd rwy'n Uwch Gymrawd Ymchwil Anrhydeddus ac yn parhau i wneud ymchwil ym maes delweddu ymennydd a phenoteipio clinigol plant â CNVs fel aelod o'r Grŵp Ymchwil Amrywiolyn Rhif Copi.
Yn glinigol, rwy'n gweithio gyda'r Gwasanaeth Anableddau Dysgu Plant a'r Glasoed (CALDS) ym Mwrdd Iechyd Prifysgol Caerdydd a'r Fro, gan ddarparu gofal seiciatrig i blant ag anabledd deallusol. Rwy'n aelod o Dîm Amlddisgyblaethol 22q Cymru Gyfan a Gwasanaeth Genomeg Seiciatrig Cymru Gyfan, yn cefnogi teuluoedd â phlant sydd â risg genetig uchel o broblemau iechyd meddwl ac yn cynghori gweithwyr proffesiynol sy'n ymwneud â'u gofal.
Ar hyn o bryd rwy'n Gyd-gadeirydd Cyfadran Seiciatreg Plant a'r Glasoed Coleg Brenhinol y Seiciatryddion yng Nghymru a Chynrychiolydd Cymru ar Bwyllgor Gweithredol y System Gwyliadwriaeth Seiciatrig Plant a'r Glasoed.
Cyhoeddiad
2024
- Kendall, K., Duffin, D., Doherty, J., Irving, R., Procter, A. and Walters, J. 2024. The translation of psychiatric genetics findings to the clinic. Schizophrenia Research 267, pp. 470-472. (10.1016/j.schres.2023.10.024)
- Boen, R. et al. 2024. Beyond the global brain differences: Intra-individual variability differences in 1q21.1 distal and 15q11.2 BP1-BP2 deletion carriers. Biological Psychiatry 95(2), pp. 147-160. (10.1016/j.biopsych.2023.08.018)
- Doherty, J. L. et al. 2024. Atypical cortical networks in children at high-genetic risk of psychiatric and eurodevelopmental disorders. Neuropsychopharmacology 49, pp. 368-376. (10.1038/s41386-023-01628-x)
- Ge, R. et al. 2024. Source‐based morphometry reveals structural brain pattern abnormalities in 22q11.2 deletion syndrome. Human Brain Mapping 45(1), article number: e26553. (10.1002/hbm.26553)
2023
- Raven, E. et al. 2023. In vivo evidence of microstructural hypo-connectivity of brain white matter in 22q11.2 deletion syndrome. Molecular Psychiatry 28, pp. 4342-4352. (10.1038/s41380-023-02178-w)
2022
- Sønderby, I. et al. 2022. Effects of copy number variations on brain structure and risk for psychiatric illness: Large-scale studies from the ENIGMA Working Groups on CNVs. Human Brain Mapping 43(1), pp. 300-328. (10.1002/hbm.25354)
2021
- Chamberland, M. et al. 2021. Detecting microstructural deviations in individuals with deep diffusion MRI tractometry. Nature Computational Science 1, pp. 598-606. (10.1038/s43588-021-00126-8)
- Forsyth, J. K. et al. 2021. Prioritizing genetic contributors to cortical alterations in 22q11.2 deletion syndrome using imaging transcriptomics. Cerebral Cortex 31(7), pp. 3285-3298. (10.1093/cercor/bhab008)
- Chawner, S. et al. 2021. A genetics-first approach to dissecting the heterogeneity of autism: phenotypic comparison of autism risk copy number variants. American Journal of Psychiatry 178(1), pp. 77-86. (10.1176/appi.ajp.2020.20010015)
- Sønderby, I. E., Hall, J., Owen, M., Van Den Bree, M., Linden, D., Silva, A. and Doherty, J. 2021. 1q21.1 distal copy number variants are associated with cerebral and cognitive alterations in humans. Translational Psychiatry 11, article number: 182. (10.1038/s41398-021-01213-0)
2020
- Villalon-Reina, J. et al. 2020. Altered white matter microstructure in 22q11.2 deletion syndrome: a multi-site diffusion tensor imaging study. Molecular Psychiatry 25, pp. 2818-2831. (10.1038/s41380-019-0450-0)
- Dima, D. C. et al. 2020. Electrophysiological network alterations in adults with copy number variants associated with high neurodevelopmental risk. Translational Psychiatry 10, article number: 324. (10.1038/s41398-020-00998-w)
- Sun, D. et al. 2020. Large-scale mapping of cortical alterations in 22q11.2 deletion syndrome: Convergence with idiopathic psychosis and effects of deletion size. Molecular Psychiatry 25, pp. 1822-1834. (10.1038/s41380-018-0078-5)
- Ching, C. R. et al. 2020. Mapping subcortical brain alterations in 22q11.2 deletion syndrome: effects of seletion size and convergence with idiopathic neuropsychiatric illness. American Journal of Psychiatry 177(7), pp. 589-600. (10.1176/appi.ajp.2019.19060583)
- Chamberland, M. et al. 2020. Tractometry-based anomaly detection for single-subject white matter analysis. Presented at: Medical Imaging with Deep Learning (MIDL 2020), Montréal, Canada, 6-9 July 2020.
2019
- Niarchou, M. et al. 2019. Psychiatric disorders in children with 16p11.2 deletion and duplication. Translational Psychiatry (10.1038/s41398-018-0339-8)
- Doherty, J. L. 2019. Excitatory-inhibitory balance in children with 22q11.2 deletion syndrome. PhD Thesis, Cardiff University.
2018
- Brieva, J. et al. 2018. Alternative diffusion anisotropy measures for the investigation of white matter alterations in 22q11.2 deletion syndrome. Presented at: 14th International Symposium on Medical Information Processing and Analysis,, Mazatlán, Mexico, 24-26 October 2018 Presented at Romero, E., Lepore, N. and Brieva, J. eds.14th International Symposium on Medical Information Processing and Analysis, Vol. 10975. Proceedings of SPIE Bellingham, Washington: SPIE pp. 51., (10.1117/12.2513788)
- Chawner, S. J., Niarchou, M., Doherty, J. L., Moss, H., Owen, M. J. and Van Den Bree, M. 2018. The emergence of psychotic experiences in the early adolescence of 22q11.2 Deletion Syndrome. Journal of Psychiatric Research 109, pp. 10-17. (10.1016/j.jpsychires.2018.11.002)
- Doherty, J., Cooper, M. and Thapar, A. 2018. Advances in our understanding of the genetics of childhood neurodevelopmental disorders. Evidence-Based Mental Health 21(4), pp. 171-172. (10.1136/ebmental-2018-300067)
- Reddaway, J., Doherty, J. L., Lancaster, T., Linden, D., Walters, J. T. and Hall, J. 2018. Genomic and imaging biomarkers in schizophrenia. In: Current Topics in Behavioral Neurosciences. Berlin and Heidelberg: Springer, pp. 325-352., (10.1007/7854_2018_52)
2017
- Chawner, S., Doherty, J. L., Moss, H., Niarchou, M., Walters, J., Owen, M. J. and Van Den Bree, M. B. 2017. Childhood cognitive development in 22q11.2 deletion syndrome: case–control study. British Journal of Psychiatry 211(4), pp. 223-230. (10.1192/bjp.bp.116.195651)
2016
- Owen, M. J. and Doherty, J. L. 2016. What can we learn from the high rates of schizophrenia in people with 22q11.2 deletion syndrome?. World Psychiatry 15(1), pp. 23-25. (10.1002/wps.20274)
- Cooper, M., Eyre, O., Doherty, J. L. and Bevan-Jones, R. 2016. Gaining approvals for mental health research in the NHS. BJPscyh Advances 22(1), pp. 64-72. (10.1192/apt.bp.114.014035)
2014
- Doherty, J. and Owen, M. J. 2014. Genomic insights into the overlap between psychiatric disorders: implications for research and clinical practice. Genome Medicine 6(4), article number: 29. (10.1186/gm546)
- Doherty, J. L. and Owen, M. J. 2014. The Research Domain Criteria: moving the goalposts to change the game. British Journal of Psychiatry 204(3), pp. 171-173. (10.1192/bjp.bp.113.133330)
2012
- Yip, S. W. et al. 2012. Reduced subjective response to acute ethanol administration among young men with a broad bipolar phenotype. Neuropsychopharmacology 37(8), pp. 1808-1815. (10.1038/npp.2012.45)
- Doherty, J. L., O'Donovan, M. C. and Owen, M. J. 2012. Recent genomic advances in schizophrenia. Clinical Genetics 81(2), pp. 103-109. (10.1111/j.1399-0004.2011.01773.x)
2011
- Zarei, M. et al. 2011. Changes in gray matter volume and white matter microstructure in adolescents with obsessive-compulsive disorder. Biological psychiatry 70(11), pp. 1083-1090. (10.1016/j.biopsych.2011.06.032)
Articles
- Kendall, K., Duffin, D., Doherty, J., Irving, R., Procter, A. and Walters, J. 2024. The translation of psychiatric genetics findings to the clinic. Schizophrenia Research 267, pp. 470-472. (10.1016/j.schres.2023.10.024)
- Boen, R. et al. 2024. Beyond the global brain differences: Intra-individual variability differences in 1q21.1 distal and 15q11.2 BP1-BP2 deletion carriers. Biological Psychiatry 95(2), pp. 147-160. (10.1016/j.biopsych.2023.08.018)
- Doherty, J. L. et al. 2024. Atypical cortical networks in children at high-genetic risk of psychiatric and eurodevelopmental disorders. Neuropsychopharmacology 49, pp. 368-376. (10.1038/s41386-023-01628-x)
- Ge, R. et al. 2024. Source‐based morphometry reveals structural brain pattern abnormalities in 22q11.2 deletion syndrome. Human Brain Mapping 45(1), article number: e26553. (10.1002/hbm.26553)
- Raven, E. et al. 2023. In vivo evidence of microstructural hypo-connectivity of brain white matter in 22q11.2 deletion syndrome. Molecular Psychiatry 28, pp. 4342-4352. (10.1038/s41380-023-02178-w)
- Sønderby, I. et al. 2022. Effects of copy number variations on brain structure and risk for psychiatric illness: Large-scale studies from the ENIGMA Working Groups on CNVs. Human Brain Mapping 43(1), pp. 300-328. (10.1002/hbm.25354)
- Chamberland, M. et al. 2021. Detecting microstructural deviations in individuals with deep diffusion MRI tractometry. Nature Computational Science 1, pp. 598-606. (10.1038/s43588-021-00126-8)
- Forsyth, J. K. et al. 2021. Prioritizing genetic contributors to cortical alterations in 22q11.2 deletion syndrome using imaging transcriptomics. Cerebral Cortex 31(7), pp. 3285-3298. (10.1093/cercor/bhab008)
- Chawner, S. et al. 2021. A genetics-first approach to dissecting the heterogeneity of autism: phenotypic comparison of autism risk copy number variants. American Journal of Psychiatry 178(1), pp. 77-86. (10.1176/appi.ajp.2020.20010015)
- Sønderby, I. E., Hall, J., Owen, M., Van Den Bree, M., Linden, D., Silva, A. and Doherty, J. 2021. 1q21.1 distal copy number variants are associated with cerebral and cognitive alterations in humans. Translational Psychiatry 11, article number: 182. (10.1038/s41398-021-01213-0)
- Villalon-Reina, J. et al. 2020. Altered white matter microstructure in 22q11.2 deletion syndrome: a multi-site diffusion tensor imaging study. Molecular Psychiatry 25, pp. 2818-2831. (10.1038/s41380-019-0450-0)
- Dima, D. C. et al. 2020. Electrophysiological network alterations in adults with copy number variants associated with high neurodevelopmental risk. Translational Psychiatry 10, article number: 324. (10.1038/s41398-020-00998-w)
- Sun, D. et al. 2020. Large-scale mapping of cortical alterations in 22q11.2 deletion syndrome: Convergence with idiopathic psychosis and effects of deletion size. Molecular Psychiatry 25, pp. 1822-1834. (10.1038/s41380-018-0078-5)
- Ching, C. R. et al. 2020. Mapping subcortical brain alterations in 22q11.2 deletion syndrome: effects of seletion size and convergence with idiopathic neuropsychiatric illness. American Journal of Psychiatry 177(7), pp. 589-600. (10.1176/appi.ajp.2019.19060583)
- Niarchou, M. et al. 2019. Psychiatric disorders in children with 16p11.2 deletion and duplication. Translational Psychiatry (10.1038/s41398-018-0339-8)
- Chawner, S. J., Niarchou, M., Doherty, J. L., Moss, H., Owen, M. J. and Van Den Bree, M. 2018. The emergence of psychotic experiences in the early adolescence of 22q11.2 Deletion Syndrome. Journal of Psychiatric Research 109, pp. 10-17. (10.1016/j.jpsychires.2018.11.002)
- Doherty, J., Cooper, M. and Thapar, A. 2018. Advances in our understanding of the genetics of childhood neurodevelopmental disorders. Evidence-Based Mental Health 21(4), pp. 171-172. (10.1136/ebmental-2018-300067)
- Chawner, S., Doherty, J. L., Moss, H., Niarchou, M., Walters, J., Owen, M. J. and Van Den Bree, M. B. 2017. Childhood cognitive development in 22q11.2 deletion syndrome: case–control study. British Journal of Psychiatry 211(4), pp. 223-230. (10.1192/bjp.bp.116.195651)
- Owen, M. J. and Doherty, J. L. 2016. What can we learn from the high rates of schizophrenia in people with 22q11.2 deletion syndrome?. World Psychiatry 15(1), pp. 23-25. (10.1002/wps.20274)
- Cooper, M., Eyre, O., Doherty, J. L. and Bevan-Jones, R. 2016. Gaining approvals for mental health research in the NHS. BJPscyh Advances 22(1), pp. 64-72. (10.1192/apt.bp.114.014035)
- Doherty, J. and Owen, M. J. 2014. Genomic insights into the overlap between psychiatric disorders: implications for research and clinical practice. Genome Medicine 6(4), article number: 29. (10.1186/gm546)
- Doherty, J. L. and Owen, M. J. 2014. The Research Domain Criteria: moving the goalposts to change the game. British Journal of Psychiatry 204(3), pp. 171-173. (10.1192/bjp.bp.113.133330)
- Yip, S. W. et al. 2012. Reduced subjective response to acute ethanol administration among young men with a broad bipolar phenotype. Neuropsychopharmacology 37(8), pp. 1808-1815. (10.1038/npp.2012.45)
- Doherty, J. L., O'Donovan, M. C. and Owen, M. J. 2012. Recent genomic advances in schizophrenia. Clinical Genetics 81(2), pp. 103-109. (10.1111/j.1399-0004.2011.01773.x)
- Zarei, M. et al. 2011. Changes in gray matter volume and white matter microstructure in adolescents with obsessive-compulsive disorder. Biological psychiatry 70(11), pp. 1083-1090. (10.1016/j.biopsych.2011.06.032)
Book sections
- Reddaway, J., Doherty, J. L., Lancaster, T., Linden, D., Walters, J. T. and Hall, J. 2018. Genomic and imaging biomarkers in schizophrenia. In: Current Topics in Behavioral Neurosciences. Berlin and Heidelberg: Springer, pp. 325-352., (10.1007/7854_2018_52)
Conferences
- Chamberland, M. et al. 2020. Tractometry-based anomaly detection for single-subject white matter analysis. Presented at: Medical Imaging with Deep Learning (MIDL 2020), Montréal, Canada, 6-9 July 2020.
- Brieva, J. et al. 2018. Alternative diffusion anisotropy measures for the investigation of white matter alterations in 22q11.2 deletion syndrome. Presented at: 14th International Symposium on Medical Information Processing and Analysis,, Mazatlán, Mexico, 24-26 October 2018 Presented at Romero, E., Lepore, N. and Brieva, J. eds.14th International Symposium on Medical Information Processing and Analysis, Vol. 10975. Proceedings of SPIE Bellingham, Washington: SPIE pp. 51., (10.1117/12.2513788)
Thesis
- Doherty, J. L. 2019. Excitatory-inhibitory balance in children with 22q11.2 deletion syndrome. PhD Thesis, Cardiff University.