Dr Owen Pickrell

Athro Cyswllt Er Anrhydedd

Medicine

+44 (0) 1792 295134

w.o.pickrell@abertawe.ac.uk

Siaradwr Cymraeg Rhugl

Ar gael ar gyfer Goruchwyliaeth Ôl-raddedig

Dolenni Ymchwil

https://orcid.org/0000-0003-4396-5657

Trosolwg

Mae Dr Owen Pickrell yn niwrolegydd ymgynghorol ac yn athro clinigol cysylltiol er anrhydedd yn Ysgol Feddygaeth Prifysgol Abertawe. Mae'n gweithio fel niwrolegydd ym Mwrdd Iechyd Prifysgol Bae Abertawe ac mae ganddo ddiddordeb mewn epilepsi fel rhan o'i arbenigedd ehangach. Mae ei ddiddordebau ymchwil yn cynnwys geneteg epilepsi, defnyddio data a gesglir yn rheolaidd at ddiben ymchwil niwroleg, defnyddio prosesu iaith naturiol fel offeryn clinigol ac ymchwil ac ymchwil niwroleg glinigol. Owen yw prif ymchwilydd Biofanc Niwroleg Abertawe a Phrosiectau Geneteg Epilepsi Teuluol.

Meysydd Arbenigedd

Epilepsi a geneteg epilepsi
Defnyddio data a gesglir yn rheolaidd at ddiben ymchwil niwroleg
Prosesu Iaith Naturiol
Ymchwil niwroleg glinigol

Cyhoeddiadau

Uchafbwyntiau Ymchwil

Epilepsies), ., Stevelink, R., Campbell, C., Chen, S., Abou-Khalil, B., Adesoji, O., Afawi, Z., Amadori, E., Anderson, A., Anderson, J., Andrade, D., Annesi, G., Auce, P., Avbersek, A., Bahlo, M., Baker, M., Balagura, G., Balestrini, S., Barba, C...., & Pickrell, O. (2023). GWAS meta-analysis of over 29,000 people with epilepsy identifies 26 risk loci and subtype-specific genetic architecture. Nature Genetics, 55(9), 1471-1482.
https://doi.org/10.1038/s41588-023-01485-w, SU Repository: https://cronfa.swan.ac.uk/Record/cronfa67652
Bailey, G., Rawlings, A., Torabi, F., Pickrell, O., & Peall, K. (2024). Prevalence and temporal relationship of clinical co-morbidities in idiopathic dystonia: a UK linkage-based study. Journal of Neurology, 271(6), 3398-3408.
https://doi.org/10.1007/s00415-024-12284-6, SU Repository: https://cronfa.swan.ac.uk/Record/cronfa67651
Bush, K., Cullen, E., Mills, S., Chin, R., Thomas, R., Kingston, A., Pickrell, O., & Ramsay, S. (2024). Assessing the extent and determinants of socioeconomic inequalities in epilepsy in the UK: a systematic review and meta-analysis of evidence. The Lancet Public Health, 9(8), e614-e628.
https://doi.org/10.1016/s2468-2667(24)00132-4, SU Repository: https://cronfa.swan.ac.uk/Record/cronfa67280
Ali, S., Dobbs, T., Jovic, M., Strafford, H., Fonferko-Shadrach, B., Lacey, A., Williams, N., Pickrell, O., Hutchings, H., & Whitaker, I. (2023). Validating a novel natural language processing pathway for automated quality assurance in surgical oncology: incomplete excision rates of 34 955 basal cell carcinomas. British Journal of Surgery, 110(9), 1072-1075.
https://doi.org/10.1093/bjs/znad055, SU Repository: https://cronfa.swan.ac.uk/Record/cronfa63002
http://dx.doi.org/10.1093/bjs/znad055
Strafford, H., Lacey, A., Hollinghurst, J., Akbari, A., Watkins, A., Paterson, J., Jennings, D., Lyons, R., Powell, R., Kerr, M., Chin, R., & Pickrell, O. (2023). COVID-19 vaccination uptake in people with epilepsy in wales. Seizure, 108, 49-52.
https://doi.org/10.1016/j.seizure.2023.04.006, SU Repository: https://cronfa.swan.ac.uk/Record/cronfa63099
http://dx.doi.org/10.1016/j.seizure.2023.04.006

Holl Ymchwil

Erthyglau Cylchgronau

Bush, K., Cullen, E., Mills, S., Chin, R., Thomas, R., Kingston, A., Pickrell, O., & Ramsay, S. (2024). Assessing the extent and determinants of socioeconomic inequalities in epilepsy in the UK: a systematic review and meta-analysis of evidence. The Lancet Public Health, 9(8), e614-e628.
https://doi.org/10.1016/s2468-2667(24)00132-4, SU Repository: https://cronfa.swan.ac.uk/Record/cronfa67280
Bailey, G., Rawlings, A., Torabi, F., Pickrell, O., & Peall, K. (2024). Prevalence and temporal relationship of clinical co-morbidities in idiopathic dystonia: a UK linkage-based study. Journal of Neurology, 271(6), 3398-3408.
https://doi.org/10.1007/s00415-024-12284-6, SU Repository: https://cronfa.swan.ac.uk/Record/cronfa67651
Strafford, H., Hollinghurst, J., Lacey, A., Akbari, A., Watkins, A., Paterson, J., Jennings, D., Lyons, R., Powell, R., Kerr, M., Chin, R., & Pickrell, O. (2024). Epilepsy and the risk of COVID-19-related hospitalization and death: A population study. Epilepsia, 65(5), 1383-1393.
https://doi.org/10.1111/epi.17910, SU Repository: https://cronfa.swan.ac.uk/Record/cronfa65804
Strafford, H., Hollinghurst, J., Lacey, A., Akbari, A., Watkins, A., Paterson, J., Jennings, D., Lyons, R., Powell, R., Kerr, M., Chin, R., & Pickrell, O. (2024). Health care utilization and mortality for people with epilepsy during COVID‐19: A population study. Epilepsia, 65(5), 1394-1405.
https://doi.org/10.1111/epi.17920, SU Repository: https://cronfa.swan.ac.uk/Record/cronfa65805
Knowles, S., Middleton, R., Cooze, B., Farkas, I., Leung, Y., Allen, K., WINSLADE, M., Owen, D., Magliozzi, R., Reynolds, R., Neal, J., Pearson, O., Nicholas, R., Pickrell, O., Howell, O., & Group), . (2024). Comparing the Pathology, Clinical, and Demographic Characteristics of Younger and Older‐Onset Multiple Sclerosis. Annals of Neurology, 95(3), 471-486.
https://doi.org/10.1002/ana.26843, SU Repository: https://cronfa.swan.ac.uk/Record/cronfa65353
http://dx.doi.org/10.1002/ana.26843
Ali, S., Dobbs, T., Tarafdar, A., Strafford, H., Fonferko-Shadrach, B., Lacey, A., Pickrell, O., Hutchings, H., & Whitaker, I. (2024). Natural language processing to automate a web-based model of care and modernize skin cancer multidisciplinary team meetings. British Journal of Surgery, 111(1)
https://doi.org/10.1093/bjs/znad347, SU Repository: https://cronfa.swan.ac.uk/Record/cronfa65543
Ali, S., Dobbs, T., Jovic, M., Strafford, H., Lacey, A., Williams, N., Pickrell, O., Hutchings, H., & Whitaker, I. (2024). Revisiting basal cell carcinoma clinical margins: Leveraging natural language processing and multivariate analysis with updated Royal College of Pathologists histological reporting standards. Journal of Plastic, Reconstructive and Aesthetic Surgery, 88, 443-451.
https://doi.org/10.1016/j.bjps.2023.10.106, SU Repository: https://cronfa.swan.ac.uk/Record/cronfa64779
Fonferko-Shadrach, B., Lacey, A., Strafford, H., Jones, C., Baker, M., Powell, R., Akbari, A., Lyons, R., Ford, D., Ellwood-Thompson, S., Jones, K., Chung, S., Pickrell, O., & Rees, M. (2023). Genetic influences on epilepsy outcomes: a whole‐exome sequencing and healthcare records data linkage study. Epilepsia
https://doi.org/10.1111/epi.17766, SU Repository: https://cronfa.swan.ac.uk/Record/cronfa64175
http://dx.doi.org/10.1111/epi.17766
Epilepsies), ., Stevelink, R., Campbell, C., Chen, S., Abou-Khalil, B., Adesoji, O., Afawi, Z., Amadori, E., Anderson, A., Anderson, J., Andrade, D., Annesi, G., Auce, P., Avbersek, A., Bahlo, M., Baker, M., Balagura, G., Balestrini, S., Barba, C...., & Pickrell, O. (2023). GWAS meta-analysis of over 29,000 people with epilepsy identifies 26 risk loci and subtype-specific genetic architecture. Nature Genetics, 55(9), 1471-1482.
https://doi.org/10.1038/s41588-023-01485-w, SU Repository: https://cronfa.swan.ac.uk/Record/cronfa67652
Strafford, H., Lacey, A., Hollinghurst, J., Akbari, A., Watkins, A., Paterson, J., Jennings, D., Lyons, R., Powell, R., Kerr, M., Chin, R., & Pickrell, O. (2023). COVID-19 vaccination uptake in people with epilepsy in wales. Seizure, 108, 49-52.
https://doi.org/10.1016/j.seizure.2023.04.006, SU Repository: https://cronfa.swan.ac.uk/Record/cronfa63099
http://dx.doi.org/10.1016/j.seizure.2023.04.006
Pickrell, O. & Fry, A. (2023). Epilepsy genetics: a practical guide for adult neurologists. Practical Neurology, 23(2), 111-119.
https://doi.org/10.1136/pn-2022-003623, SU Repository: https://cronfa.swan.ac.uk/Record/cronfa62418
http://dx.doi.org/10.1136/pn-2022-003623
Ali, S., Dobbs, T., Jovic, M., Strafford, H., Fonferko-Shadrach, B., Lacey, A., Williams, N., Pickrell, O., Hutchings, H., & Whitaker, I. (2023). Validating a novel natural language processing pathway for automated quality assurance in surgical oncology: incomplete excision rates of 34 955 basal cell carcinomas. British Journal of Surgery, 110(9), 1072-1075.
https://doi.org/10.1093/bjs/znad055, SU Repository: https://cronfa.swan.ac.uk/Record/cronfa63002
http://dx.doi.org/10.1093/bjs/znad055
Bailey, G., Bailey, G., Rawlings, A., Torabi, F., Pickrell, O., & Peall, K. (2022). Longitudinal analysis of the relationship between motor and psychiatric symptoms in idiopathic dystonia. European Journal of Neurology, 29(12), 3513-3527.
https://doi.org/10.1111/ene.15530, SU Repository: https://cronfa.swan.ac.uk/Record/cronfa62203
Grinton, B., Robertson, E., Fearnley, L., Scheffer, I., Marson, A., O’Brien, T., Pickrell, O., Rees, M., Sisodiya, S., Balding, D., Bennett, M., Bahlo, M., Berkovic, S., & Oliver, K. (2022). A founder event causing a dominant childhood epilepsy survives 800 years through weak selective pressure. The American Journal of Human Genetics, 109(11), 2080-2087.
https://doi.org/10.1016/j.ajhg.2022.10.004, SU Repository: https://cronfa.swan.ac.uk/Record/cronfa61445
Ali, S., Strafford, H., Dobbs, T., Fonferko-Shadrach, B., Lacey, A., Pickrell, O., Hutchings, H., & Whitaker, I. (2022). Development and validation of an automated basal cell carcinoma histopathology information extraction system using natural language processing. Frontiers in Surgery, 9
https://doi.org/10.3389/fsurg.2022.870494, SU Repository: https://cronfa.swan.ac.uk/Record/cronfa60444
Hollinghurst, J., North, L., Szakmany, T., Pugh, R., Davies, G., Sivakumaran, S., Jarvis, R., Rolles, M., Pickrell, O., Akbari, A., Davies, G., Griffiths, R., Lyons, J., Torabi, F., Fry, R., Gravenor, M., & Lyons, R. (2022). SARS-CoV-2 infection risk among 77,587 healthcare workers: a national observational longitudinal cohort study in Wales, United Kingdom, April to November 2020. Journal of the Royal Society of Medicine, 115(12), 014107682211071
https://doi.org/10.1177/01410768221107119, SU Repository: https://cronfa.swan.ac.uk/Record/cronfa60146
Pickrell, O., Guelfucci, F., Martin, M., Holland, R., & Chin, R. (2022). Prevalence and healthcare resource utilization of patients with Dravet syndrome: Retrospective linkage cohort study. Seizure, 99, 159-163.
https://doi.org/10.1016/j.seizure.2022.05.018, SU Repository: https://cronfa.swan.ac.uk/Record/cronfa60166
Bailey, G., Rawlings, A., Torabi, F., Pickrell, O., & Peall, K. (2022). Adult‐onset idiopathic dystonia: A national data‐linkage study to determine epidemiological, social deprivation, and mortality characteristics. European Journal of Neurology, 29(1), 91-104.
https://doi.org/10.1111/ene.15114, SU Repository: https://cronfa.swan.ac.uk/Record/cronfa58972
Daniels, H., Lacey, A., Mikadze, D., Akbari, A., Fonferko-Shadrach, B., Hollinghurst, J., Lyons, R., Rees, M., Sawhney, I., Powell, R., Kerr, M., & Pickrell, O. (2022). Epilepsy mortality in Wales during COVID-19. Seizure - European Journal of Epilepsy, 94, 39-42.
https://doi.org/10.1016/j.seizure.2021.11.017, SU Repository: https://cronfa.swan.ac.uk/Record/cronfa58860
Bailey, G., Bailey, G., Rawlings, A., Torabi, F., Pickrell, O., & Peall, K. (2021). Adult‐onset idiopathic dystonia: a national data‐linkage study to determine epidemiological, social deprivation and mortality characteristics. European Journal of Neurology, 29(1)
https://doi.org/10.1111/ene.15114, SU Repository: https://cronfa.swan.ac.uk/Record/cronfa58005
Chin, R., Pickrell, O., Guelfucci, F., Martin, M., & Holland, R. (2021). Prevalence, healthcare resource utilization and mortality of Lennox-Gastaut syndrome: retrospective linkage cohort study. Seizure, 91, 159-166.
https://doi.org/10.1016/j.seizure.2021.05.025, SU Repository: https://cronfa.swan.ac.uk/Record/cronfa57199
Wang, Q., Laramee, B., Lacey, A., & Pickrell, O. (2021). LetterVis: a letter-space view of clinic letters. The Visual Computer, 37(9-11), 2643-2656.
https://doi.org/10.1007/s00371-021-02171-w, SU Repository: https://cronfa.swan.ac.uk/Record/cronfa57136
Dobbie, S., Strafford, H., Pickrell, O., Fonferko-Shadrach, B., Jones, C., Akbari, A., Ellwood-Thompson, S., & Lacey, A. (2021). Markup: A Web-Based Annotation Tool Powered by Active Learning. Frontiers in Digital Health, 3
https://doi.org/10.3389/fdgth.2021.598916, SU Repository: https://cronfa.swan.ac.uk/Record/cronfa57479
Lee‐Lane, E., Torabi, F., Lacey, A., Fonferko-Shadrach, B., Harris, D., Akbari, A., Lyons, R., Rees, M., Sawhney, I., Halcox, J., Powell, R., & Pickrell, O. (2021). Epilepsy, antiepileptic drugs, and the risk of major cardiovascular events. Epilepsia, 62(7), 1604-1616.
https://doi.org/10.1111/epi.16930, SU Repository: https://cronfa.swan.ac.uk/Record/cronfa56988
Miah, L., Strafford, H., Fonferko-Shadrach, B., Hollinghurst, J., Sawhney, I., Hadjikoutis, S., Rees, M., Powell, R., Lacey, A., & Pickrell, O. (2021). Incidence, Prevalence, and Health Care Outcomes in Idiopathic Intracranial Hypertension. Neurology, 96(8), e1251-e1261.
https://doi.org/10.1212/wnl.0000000000011463, SU Repository: https://cronfa.swan.ac.uk/Record/cronfa56133
Orayj, K., Akbari, A., Lacey, A., Smith, M., Pickrell, O., & Lane, E. (2021). Factors affecting the choice of first-line therapy in Parkinson’s disease patients in Wales: A population-based study. Saudi Pharmaceutical Journal, 29(2), 206-212.
https://doi.org/10.1016/j.jsps.2021.01.004, SU Repository: https://cronfa.swan.ac.uk/Record/cronfa56151
Gorton, H., Webb, R., Parisi, R., Carr, M., del Pozo Banos, M., Moriarty, K., Pickrell, O., John, A., & Ashcroft, D. (2021). Alcohol-Specific Mortality in People With Epilepsy: Cohort Studies in Two Independent Population-Based Datasets. Frontiers in Neurology, 11
https://doi.org/10.3389/fneur.2020.623139, SU Repository: https://cronfa.swan.ac.uk/Record/cronfa56750
Fry, A., Marra, C., Powell, A., Pickrell, O., Higgins, A., Naude, J., McClatchey, M., Davies, S., Metcalfe, K., Tan, H., Mohanraj, R., Avula, S., Williams, D., Brady, L., Mesterman, R., Tarnopolsky, M., Zhang, Y., Yang, Y., Wang, X...., & Chung, S. (2021). Missense variants in the N-terminal domain of the A isoform of FHF2/FGF13 cause an X-linked developmental and epileptic encephalopathy. The American Journal of Human Genetics, 108(1), 176-185.
https://doi.org/10.1016/j.ajhg.2020.10.017, SU Repository: https://cronfa.swan.ac.uk/Record/cronfa55790
Kansu, B., Pickrell, O., Lacey, A., Edwards, F., Samolia, G., Rees, M., Elwes, R., Hatfield, R., Gray, W., & Hamandi, K. (2020). Long-term outcomes after epilepsy surgery, a retrospective cohort study linking patient-reported outcomes and routine healthcare data. Epilepsy & Behavior, 111, 107196
https://doi.org/10.1016/j.yebeh.2020.107196, SU Repository: https://cronfa.swan.ac.uk/Record/cronfa54431
Ellis, C., Berkovic, S., Epstein, M., Ottman, R., Consortium), ., & Pickrell, O. (2020). The “maternal effect” on epilepsy risk: Analysis of familial epilepsies and reassessment of prior evidence. Annals of Neurology, 87(1), 132-138.
https://doi.org/10.1002/ana.25625, SU Repository: https://cronfa.swan.ac.uk/Record/cronfa52556
Pickrell, W., Kerr, M., & Pickrell, O. (2019). SUDEP and mortality in epilepsy: The role of routinely collected healthcare data, registries, and health inequalities. Epilepsy & Behavior, 106453
https://doi.org/10.1016/j.yebeh.2019.106453, SU Repository: https://cronfa.swan.ac.uk/Record/cronfa51504
Saad, T., Pickrell, O., Payne, G., & Hamandi, K. (2019). Chronic inflammatory demyelinating polyneuropathy: a rare cause of falls. BMJ Case Reports, 12(12), e231676
https://doi.org/10.1136/bcr-2019-231676, SU Repository: https://cronfa.swan.ac.uk/Record/cronfa53049
Powell, R., Feng, Y., Howrigan, D., Abbott, L., Tashman, K., Cerrato, F., Singh, T., Heyne, H., Byrnes, A., Churchhouse, C., Watts, N., Solomonson, M., Lal, D., Heinzen, E., Dhindsa, R., Stanley, K., Cavalleri, G., Hakonarson, H., Helbig, I...., & Pickrell, O. (2019). Ultra-Rare Genetic Variation in the Epilepsies: A Whole-Exome Sequencing Study of 17,606 Individuals. The American Journal of Human Genetics, 105(2), 267-282.
https://doi.org/10.1016/j.ajhg.2019.05.020, SU Repository: https://cronfa.swan.ac.uk/Record/cronfa51398
Gorton, H., Webb, R., Pickrell, W., Carr, M., Ashcroft, D., & Pickrell, O. (2018). Risk factors for self-harm in people with epilepsy. Journal of Neurology
https://doi.org/10.1007/s00415-018-9094-2, SU Repository: https://cronfa.swan.ac.uk/Record/cronfa44846
Pickrell, W., Robertson, N., & Pickrell, O. (2018). New treatments in Alzheimer’s disease. Journal of Neurology, 265(9), 2162-2163.
https://doi.org/10.1007/s00415-018-9018-1, SU Repository: https://cronfa.swan.ac.uk/Record/cronfa44261
Fonferko-Shadrach, B., Lacey, A., Akbari, A., Ellwood-Thompson, S., Ford, D., Lyons, R., Rees, M., & Pickrell, O. (2018). Using natural language processing to extract structured epilepsy data from unstructured clinic letters. International Journal of Population Data Science, 3(4)
https://doi.org/10.23889/ijpds.v3i4.699, SU Repository: https://cronfa.swan.ac.uk/Record/cronfa44398
http://dx.doi.org/10.23889/ijpds.v3i4.699
Sen, A., Dugan, P., Perucca, P., Costello, D., Choi, H., Bazil, C., Radtke, R., Andrade, D., Depondt, C., Heavin, S., Adcock, J., Pickrell, W., McGinty, R., Nascimento, F., Smith, P., Rees, M., Kwan, P., O'Brien, T., Goldstein, D...., & Pickrell, O. (2018). The phenotype of bilateral hippocampal sclerosis and its management in “real life” clinical settings. Epilepsia, 59(7), 1410-1420.
https://doi.org/10.1111/epi.14436, SU Repository: https://cronfa.swan.ac.uk/Record/cronfa40411
Lacey, A., Pickrell, W., Thomas, R., Kerr, M., White, C., Rees, M., & Pickrell, O. (2018). Educational attainment of children born to mothers with epilepsy. Journal of Neurology, Neurosurgery & Psychiatry, 89(7), 736-740.
https://doi.org/10.1136/jnnp-2017-317515, SU Repository: https://cronfa.swan.ac.uk/Record/cronfa38888
Pickrell, W., Robertson, N., & Pickrell, O. (2017). Cannabidiol as a treatment for epilepsy. Journal of Neurology, 264(12), 2506-2508.
https://doi.org/10.1007/s00415-017-8663-0, SU Repository: https://cronfa.swan.ac.uk/Record/cronfa37368
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5688214/
Fonferko-Shadrach, B., Lacey, A., White, C., Powell, H., Sawhney, I., Lyons, R., Smith, P., Kerr, M., Rees, M., Pickrell, W., Pickrell, O., & Powell, R. (2017). Validating epilepsy diagnoses in routinely collected data. Seizure, 52, 195-198.
https://doi.org/10.1016/j.seizure.2017.10.008, SU Repository: https://cronfa.swan.ac.uk/Record/cronfa38279
Consortium), ., Rees, M., & Pickrell, O. (2017). Phenotypic analysis of 303 multiplex families with common epilepsies. Brain, 140(8), 2144-2156.
https://doi.org/10.1093/brain/awx129, SU Repository: https://cronfa.swan.ac.uk/Record/cronfa34711
Lacey, A., Lyons, J., Akbari, A., Turner, S., Walters, A., Fonferko-Shadrach, B., Pickrell, O., Rees, M., Lyons, R., Ford, D., & Middleton, R. (2017). Codifying unstructured data: A Natural Language Processing approach to extract rich data from clinical letters. International Journal for Population Data Science, 1(1)
https://doi.org/10.23889/ijpds.v1i1.354, SU Repository: https://cronfa.swan.ac.uk/Record/cronfa39437
Lacey, A., Fonferko-Shadrach, B., Lyons, R., Kerr, M., Ford, D., Rees, M., & Pickrell, O. (2017). Obtaining structured clinical data from unstructured data using natural language processing software. International Journal of Population Data Science, 1(1)
https://doi.org/10.23889/ijpds.v1i1.381, SU Repository: https://cronfa.swan.ac.uk/Record/cronfa37094
Allen, A., Bellows, S., Berkovic, S., Bridgers, J., Burgess, R., Cavalleri, G., Chung, S., Cossette, P., Delanty, N., Dlugos, D., Epstein, M., Freyer, C., Goldstein, D., Heinzen, E., Hildebrand, M., Johnson, M., Kuzniecky, R., Lowenstein, D., Marson, A...., & Winawer, M. (2017). Ultra-rare genetic variation in common epilepsies: a case-control sequencing study. The Lancet Neurology, 16(2), 135-143.
https://doi.org/10.1016/s1474-4422(16)30359-3, SU Repository: https://cronfa.swan.ac.uk/Record/cronfa31625
Owen Pickrell, W., Robertson, N., & Pickrell, O. (2016). Stem cell treatment for multiple sclerosis. Journal of Neurology, 263(10), 2145-2147.
https://doi.org/10.1007/s00415-016-8284-z, SU Repository: https://cronfa.swan.ac.uk/Record/cronfa31332
Myers, C., McMahon, J., Schneider, A., Petrovski, S., Allen, A., Carvill, G., Zemel, M., Saykally, J., LaCroix, A., Heinzen, E., Hollingsworth, G., Nikanorova, M., Corbett, M., Gecz, J., Coman, D., Freeman, J., Calvert, S., Gill, D., Carney, P...., & Mefford, H. (2016). De Novo Mutations in SLC1A2 and CACNA1A Are Important Causes of Epileptic Encephalopathies. The American Journal of Human Genetics, 99(2), 287-298.
https://doi.org/10.1016/j.ajhg.2016.06.003, SU Repository: https://cronfa.swan.ac.uk/Record/cronfa29412
Leu, C., Balestrini, S., Maher, B., Hernández-Hernández, L., Gormley, P., Hämäläinen, E., Heggeli, K., Schoeler, N., Novy, J., Willis, J., Plagnol, V., Ellis, R., Reavey, E., O'Regan, M., Pickrell, W., Thomas, R., Chung, S., Delanty, N., McMahon, J...., & Pickrell, O. (2015). Genome-wide Polygenic Burden of Rare Deleterious Variants in Sudden Unexpected Death in Epilepsy. EBioMedicine
https://doi.org/10.1016/j.ebiom.2015.07.005, SU Repository: https://cronfa.swan.ac.uk/Record/cronfa22555
Pickrell, W., Elwyn, G., Smith, P., & Pickrell, O. (2015). Shared decision-making in epilepsy management. Epilepsy & Behavior
https://doi.org/10.1016/j.yebeh.2015.01.033, SU Repository: https://cronfa.swan.ac.uk/Record/cronfa21369
Pickrell, W., Lacey, A., Bodger, O., Demmler, J., Thomas, R., Lyons, R., Smith, P., Rees, M., Kerr, M., Lacey, A., Bodger, O., Demmler, J., Lyons, R., Rees, M., & Pickrell, O. (2015). Epilepsy and deprivation, a data linkage study. Epilepsia, 56(4), 585-591.
https://doi.org/10.1111/epi.12942, SU Repository: https://cronfa.swan.ac.uk/Record/cronfa20293
Johnston, A., Kang, J., Shen, W., Pickrell, W., Cushion, T., Davies, J., Baer, K., Mullins, J., Hammond, C., Chung, S., Thomas, R., White, C., Smith, P., Macdonald, R., Rees, M., & Pickrell, O. (2014). A Novel GABRG2 mutation, p.R136*, in a family with GEFS+ and extended phenotypes. Neurobiology of Disease
https://doi.org/10.1016/j.nbd.2013.12.013, SU Repository: https://cronfa.swan.ac.uk/Record/cronfa17001
Franco-Paredes, C., Sudarshi, D., Lawrence, S., Pickrell, W., Eligar, V., Walters, R., Quaderi, S., Walker, A., Capewell, P., Clucas, C., Vincent, A., Checchi, F., MacLeod, A., Brown, M., & Pickrell, O. (2014). Human African Trypanosomiasis Presenting at Least 29 Years after Infection—What Can This Teach Us about the Pathogenesis and Control of This Neglected Tropical Disease?. PLoS Neglected Tropical Diseases, 8(12), e3349
https://doi.org/10.1371/journal.pntd.0003349, SU Repository: https://cronfa.swan.ac.uk/Record/cronfa20167
http://journals.plos.org/plosntds/article?id=10.1371/journal.pntd.0003349
Pickrell, W., Smith, P., & Pickrell, O. (2014). Treatment of resistant epilepsy. Clinical Medicine, 14(Suppl_6), s1-s6.
https://doi.org/10.7861/clinmedicine.14-6-s1, SU Repository: https://cronfa.swan.ac.uk/Record/cronfa20168
Steer, S., Pickrell, W., Kerr, M., Thomas, R., & Pickrell, O. (2014). Epilepsy prevalence and socioeconomic deprivation in England. Epilepsia, 55(10), 1634-1641.
https://doi.org/10.1111/epi.12763, SU Repository: https://cronfa.swan.ac.uk/Record/cronfa20169
Chung, S., Bode, A., Cushion, T., Thomas, R., Hunt, C., Wood, S., Pickrell, W., Drew, C., Yamashita, S., Shiang, R., Leiz, S., Longhardt, A., Raile, V., Weschke, B., Puri, R., Verma, I., Harvey, R., Ratnasinghe, D., Parker, M...., & Pickrell, O. (2013). GLRB is the third major gene of effect in hyperekplexia. Human Molecular Genetics, 22(5), 927-940.
https://doi.org/10.1093/hmg/dds498, SU Repository: https://cronfa.swan.ac.uk/Record/cronfa13840
Pickrell, W., Hirst, C., Brunt, H., Pearson, O., & Pickrell, O. (2013). Peripheral neuropathy—lead astray?. The Lancet, 381(9872), 1156-1156.
https://doi.org/10.1016/S0140-6736(12)62169-2, SU Repository: https://cronfa.swan.ac.uk/Record/cronfa14810
Pickrell, W., Lacey, A., Thomas, R., Lyons, R., Smith, P., Rees, M., & Pickrell, O. (2013). Trends in the first antiepileptic drug prescribed for epilepsy between 2000 and 2010. Seizure
https://doi.org/10.1016/j.seizure.2013.09.007, SU Repository: https://cronfa.swan.ac.uk/Record/cronfa16640
Pickrell, W., Lacey, A., Thomas, R., Smith, P., Rees, M., Rees, M., Lacey, A., & Pickrell, O. (2012). Weight change associated with antiepileptic drugs. Journal of Neurology, Neurosurgery & Psychiatry, 84(7), 796-799.
https://doi.org/10.1136/jnnp-2012-303688, SU Repository: https://cronfa.swan.ac.uk/Record/cronfa13956

Penodau Llyfrau

Pickrell, W., Rees, M., Chung, S., & Pickrell, O. (2012). Next Generation Sequencing Methodologies - An Overview. Challenges and Opportunities of Next-Generation Sequencing for Biomedical Research (pp. 1-26).
https://doi.org/10.1016/B978-0-12-394287-6.00001-X, SU Repository: https://cronfa.swan.ac.uk/Record/cronfa13842

Cyfraniadau Cynadleddau

Torabi, F., Lee-Lane, E., Lacey, A., Fonferko-Shadrach, B., Harris, D., Akbari, A., Lyons, R., Rees, M., Sawhney, I., Halcox, J., Powell, R., & Pickrell, O. (2020). A National Level Case-Control Study for Determining Risk of Major Cardiovascular Events in People with Epilepsy. In International Journal of Population Data ScienceSwansea University.
https://doi.org/10.23889/ijpds.v5i5.1539, SU Repository: https://cronfa.swan.ac.uk/Record/cronfa55870
Dobbie, S., Strafford, H., Pickrell, O., Fonferko-Shadrach, B., Akbari, A., Ellwood-Thompson, S., & Lacey, A. (2020). Markup: A Web-Based Clinical Annotation Tool with Enhanced Ontology Mapping. In International Journal of Population Data ScienceSwansea University.
https://doi.org/10.23889/ijpds.v5i5.1634, SU Repository: https://cronfa.swan.ac.uk/Record/cronfa55875
Daniels, H., Lacey, A., Akbari, A., Powell, R., & Pickrell, O. (2019). Epilepsy Mortality in Wales: 2005-2017. In International Journal of Population Data ScienceSwansea University.
https://doi.org/10.23889/ijpds.v4i3.1277, SU Repository: https://cronfa.swan.ac.uk/Record/cronfa53657
Orayj, K., Lacey, A., Akbari, A., Smith, M., Pickrell, O., & Lane, E. (2019). Association between levodopa and ischemic heart disease. In International Journal of Population Data ScienceSwansea University.
https://doi.org/10.23889/ijpds.v4i3.1172, SU Repository: https://cronfa.swan.ac.uk/Record/cronfa53661

Cynnyrch Ymchwil Arall

Daniels, H., Lacey, A., Akbari, A., Fonferko-Shadrach, B., Hollinghurst, J., Rees, M., Sawhney, I., Powell, H., Kerr, M., & Pickrell, O. (2022). 146 Epilepsy, deprivation and mortality in Wales 2005–2017
https://doi.org/10.1136/jnnp-2022-abn.177, SU Repository: https://cronfa.swan.ac.uk/Record/cronfa60130

Goruchwyliaeth

Diffuse Microglia and Macrophage Activation associates with a younger age of onset and meningeal inflammation in progressive multiple sclerosis (cyfredol)

MSc

Goruchwyliwr arall: Dr Owain Howell

Modiwlau a Addysgir

PM-254C Meddygon, Cleifion a Nodau Meddygaeth

Bwriad addysgol y modiwl yw caniatáu i'r myfyriwr ystyried arfer cyfoes Meddygaeth yn y Deyrnas Unedig. Bydd hyn yn cynnwys deall y rheoleiddiad proffesiynol, cyfyngiadau ariannol a'r heriau cymdeithasol a phersonol, y mae meddygaeth a gweithgareddau gofal iechyd eraill yn cael eu hymarfer ynddynt.
PM-267 Pharmacogenomics: Genes on Drugs

Pharmacogenomics is the study of how a person¿s genomic information can affect their response to drugs and therapeutics, predicting if a patient will respond badly, too much or too little to a chosen therapy. This is the underlying principle of `personalised medicine¿, ensuring the right patient, gets the right drug, at the right time. Within this module, students will look at the principles of pharmacogenomics, namely the variation in genomic sequences from patient to patient which can alter the pharmacokinetics and pharmacodynamics of therapeutics. In this module, students will learn about the role of pharmacogenomics in chemotherapy, gastrointestinal drugs, cardiovascular drugs, respiratory drugs, neurological drugs and drugs used in the treatment of infectious disease.
PM-276 Neuroanatomy and neurology

Building on `An introduction to Neuroscience¿ this module will combine fundamental neuroscience with clinical neurology to provide a comprehensive understanding of the nervous system in health and disease.
PM-276C Niwroanatomeg a Niwroleg

Gan adeiladu ar 'Cyflwyniad i Niwrowyddoniaeth' bydd y modiwl hwn yn cyfuno niwrowyddoniaeth sylfaenol â niwroleg glinigol i ddarparu dealltwriaeth gynhwysfawr o'r system nerfol ym maes iechyd a chlefydau.
PM-300 Medical Genetics

The course is designed to provide an advanced study of the identification of human genes and the determination of the influence of human genes upon disease and health status. Gene identification provides targets for the development of new pharmaceuticals and the range of variation present in the population.
PM-344 Capstone Project

The aim of this module is to provide a capstone experience to students¿ learning, through participating in their own enquiry-based research project, with guidance from an academic supervisor. The project may be laboratory or non-laboratory based, but it will always involve a research question that is drawn from the literature, and focused on a topic relevant to the life sciences. It will ask a research question and involve the critical analysis of research findings. Students will refine their oral and written communication skills to a graduate level through an oral presentation and dissertation on their research findings and conclusions.
PMGM16 Genomics of Common and Rare Inherited Disease

This module will provide an introduction to the clinical presentation and manifestations of rare inherited and common diseases, and considers the patient and family perspective with respect to the role and impact of genomics. It reviews traditional and current strategies and techniques used to identify genes responsible for both common multifactorial and rare inherited diseases.

Dr Owen Pickrell

Rhif ffôn

Cyfeiriad ebost

Welsh language proficiency

Dolenni Ymchwil

Trosolwg

Meysydd Arbenigedd

Cyhoeddiadau

Uchafbwyntiau Ymchwil

Holl Ymchwil

Erthyglau Cylchgronau

Penodau Llyfrau

Cyfraniadau Cynadleddau

Cynnyrch Ymchwil Arall

Goruchwyliaeth

Diffuse Microglia and Macrophage Activation associates with a younger age of onset and meningeal inflammation in progressive multiple sclerosis (cyfredol)

Modiwlau a Addysgir

PM-254C Meddygon, Cleifion a Nodau Meddygaeth

PM-267 Pharmacogenomics: Genes on Drugs

PM-276 Neuroanatomy and neurology

PM-276C Niwroanatomeg a Niwroleg

PM-300 Medical Genetics

PM-344 Capstone Project

PMGM16 Genomics of Common and Rare Inherited Disease