Cardiff University | Prifysgol Caerdydd ORCA
Online Research @ Cardiff 
WelshClear Cookie - decide language by browser settings

Browse by Schools (by year)

[up] Up a level
Group by: Creators | Item Type | No Grouping
Jump to: Article | Book Section | Website Content
Number of items: 22.

Article

Al-Enezi, Ebtesam, Alghamdi, Mohannad, Al-Enezi, Khaled, AlBalwi, Mohammed, Davies, William ORCID: https://orcid.org/0000-0002-7714-2440 and Eyaid, Wafaa 2024. Helsmoortel-Van der Aa syndrome in a 13-year-old girl with autistic spectrum disorder, dysmorphism, a right solitary kidney, and polycystic ovaries: a case report. Journal of Medical Case Reports 18 , 422. 10.1186/s13256-024-04746-2
file

Bailey, Grace, Rawlings, Anna, Torabi, Fatemeh, Pickrell, W. Owen and Peall, Kathryn ORCID: https://orcid.org/0000-0003-4749-4944 2024. Prevalence and temporal relationship of clinical co-morbidities in idiopathic dystonia: A UK linkage-based study. Journal of Neurology 271 , pp. 3398-3408. 10.1007/s00415-024-12284-6
file

Boen, Rune, Kaufmann, Tobias, van der Meer, Dennis, Frei, Oleksandr, Agartz, Ingrid, Ames, David, Andersson, Micael, Armstrong, Nicola J., Artiges, Eric, Atkins, Joshua R., Bauer, Jochen, Benedetti, Francesco, Boomsma, Dorret I., Brodaty, Henry, Brosch, Katharina, Buckner, Randy L., Cairns, Murray J., Calhoun, Vince, Caspers, Svenja, Cichon, Sven, Corvin, Aiden P., Facorro, Benedicto Crespo, Dannlowski, Udo, David, Friederike S., de Geus, Eco J.C., de Zubicaray, Greig I., Desrivières, Sylvane, Doherty, Joanne L., Donohoe, Gary, Ehrlich, Stefan, Eising, Else, Espeseth, Thomas, Fisher, Simon E., Forstner, Andreas J., Uyà, Lidia Fortaner, Frouin, Vincent, Fukunaga, Masaki, Ge, Tian, Glahn, David C., Goltermann, Janik, Grabe, Hans J., Green, Melissa J., Groenewold, Nynke A., Grotegerd, Dominik, Hahn, Tim, Hashimoto, Ryota, Hehir-Kwa, Jayne Y., Henskens, Frans A., Holmes, Avram J., Haberg, Asta K., Haavik, Jan, Jacquemont, Sebastien, Jansen, Andreas, Jockwitz, Christiane, Jonsson, Erik G., Kikuchi, Masataka, Kircher, Tilo, Kumar, Kuldeep, Le Hellard, Stephanie, Leu, Costin, Linden, David E. ORCID: https://orcid.org/0000-0002-5638-9292, Liu, Jingyu, Loughnan, Robert, Mather, Karen A., McMahon, Katie L., McRae, Allan F., Medland, Sarah E., Meinert, Susanne, Moreau, Clara A., Morris, Derek W., Mowry, Bryan J., Muhleisen, Thomas W., Nenadi?, Igor, Nöthen, Markus M., Nyberg, Lars, Owen, Michael J. ORCID: https://orcid.org/0000-0003-4798-0862, Paolini, Marco, Paus, Tomas, Pausova, Zdenka, Persson, Karin, Quidé, Yann, Marques, Tiago Reis, Sachdev, Perminder S., Sando, Sigrid B., Schall, Ulrich, Scott, Rodney J., Selbæk, Geir, Shumskaya, Elena, Silva, Ana I., Sisodiya, Sanjay M., Stein, Frederike, Stein, Dan J., Straube, Benjamin, Streit, Fabian, Strike, Lachlan T., Teumer, Alexander, Teutenberg, Lea, Thalamuthu, Anbupalam, Tooney, Paul A., Tordesillas-Gutierrez, Diana, Trollor, Julian N., Ent, Dennis van 't, van den Bree, Marianne B.M. ORCID: https://orcid.org/0000-0002-4426-3254, van Haren, Neeltje E.M., Vazquez-Bourgon, Javier, Volzke, Henry, Wen, Wei, Wittfeld, Katharina, Ching, Christopher R.K., Westlye, Lars T., Thompson, Paul M., Bearden, Carrie E., Selmer, Kaja K., Alnæs, Dag, Andreassen, Ole A. and Sonderby, Ida E. 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
file

Bosworth, Matthew L. ORCID: https://orcid.org/0000-0003-1391-7515, Isles, Anthony R. ORCID: https://orcid.org/0000-0002-7587-5712, Wilkinson, Lawrence S. ORCID: https://orcid.org/0000-0002-9337-6124 and Humby, Trevor ORCID: https://orcid.org/0000-0002-1840-1799 2024. Sex-dependent effects of Setd1a haploinsufficiency on development and adult behaviour. PLoS ONE 10.1371/journal.pone.0298717
file

Cabezas De La Fuente, Daniel, Tamburini, Claudia, Stonelake, Emily, Andrews, Robert, Hall, Jeremy ORCID: https://orcid.org/0000-0003-2737-9009, Owen, Michael ORCID: https://orcid.org/0000-0003-4798-0862, Linden, David ORCID: https://orcid.org/0000-0002-5638-9292, Pocklington, Andrew ORCID: https://orcid.org/0000-0002-2137-0452 and Li, Meng ORCID: https://orcid.org/0000-0002-4803-4643 2024. Impaired oxysterol-liver X receptor signaling underlies aberrant cortical neurogenesis in a human stem cell model of neurodevelopmental disorder. Cell Reports 43 (3) , 113946. 10.1016/j.celrep.2024.113946
file

Correa-da-Silva, Felipe, Carter, Jenny, Wang, Xin-Yuan, Sun, Rui, Pathak, Ekta, Kuhn, José Manuel Monroy, Schriever, Sonja C., Maya-Monteiro, Clarissa M., Jiao, Han, Kalsbeek, Martin J., Moraes-Vieira, Pedro M. M., Gille, Johan J. P., Sinnema, Margje, Stumpel, Constance T. R. M., Curfs, Leopold M. G., Stenvers, Dirk Jan, Pfluger, Paul T., Lutter, Dominik, Pereira, Alberto M., Kalsbeek, Andries, Fliers, Eric, Swaab, Dick F., Wilkinson, Lawrence ORCID: https://orcid.org/0000-0002-9337-6124, Gao, Yuanqing and Yi, Chun-Xia 2024. Microglial phagolysosome dysfunction and altered neural communication amplify phenotypic severity in Prader-Willi Syndrome with larger deletion. Acta Neuropathologica 147 , 64. 10.1007/s00401-024-02714-0
filefile

El-Farhan, Nadia, Tennant, Sarah, Rees, Seren E., Evans, Carol and Rees, D. Aled ORCID: https://orcid.org/0000-0002-1165-9092 2024. Salivary cortisol response to ACTH stimulation is a reliable alternative to serum cortisol in evaluating hypoadrenalism. The Journal of Clinical Endocrinology & Metabolism 109 (2) , e579-e588. 10.1210/clinem/dgad576
file

Evans, Carol, Jacob, Jiya, Rodham, Annabel, Gill, Manjot, Parry, Laura, Dodd, Alan, El Farhan, Nadia, Shore, Angharad, Lansdown, Andrew, Rees, Aled ORCID: https://orcid.org/0000-0002-1165-9092 and Okosieme, Onyebuchi E. 2024. Current utility of first-line FT4 and TSH in screening for central hypothyroidism. Clinical Endocrinology 101 (1) , pp. 78-84. 10.1111/cen.15068
filefile

Frasca, Angelisa, Miramondi, Federica, Butti, Erica, Indrigo, Marzia, Balbontin Arenas, Maria, Postogna, Francesca M., Piffer, Arianna, Bedogni, Francesco, Pizzamiglio, Lara, Cambria, Clara, Borello, Ugo, Antonucci, Flavia, Martino, Gianvito and Landsberger, Nicoletta 2024. Neural precursor cells rescue symptoms of Rett syndrome by activation of the Interferon γ pathway. EMBO Molecular Medicine 16 (12) , pp. 3218-3246. 10.1038/s44321-024-00144-9
file

Ge, Ruiyang, Ching, Christopher R. K., Bassett, Anne S., Kushan, Leila, Antshel, Kevin M., van Amelsvoort, Therese, Bakker, Geor, Butcher, Nancy J., Campbell, Linda E., Chow, Eva W. C., Craig, Michael, Crossley, Nicolas A., Cunningham, Adam, Daly, Eileen, Doherty, Joanne L., Durdle, Courtney A., Emanuel, Beverly S., Fiksinski, Ania, Forsyth, Jennifer K., Fremont, Wanda, Goodrich‐Hunsaker, Naomi J., Gudbrandsen, Maria, Gur, Raquel E., Jalbrzikowski, Maria, Kates, Wendy R., Lin, Amy, Linden, David E. J., McCabe, Kathryn L., McDonald‐McGinn, Donna, Moss, Hayley, Murphy, Declan G., Murphy, Kieran C., Owen, Michael J. ORCID: https://orcid.org/0000-0003-4798-0862, Villalon‐Reina, Julio E., Repetto, Gabriela M., Roalf, David R., Ruparel, Kosha, Schmitt, J. Eric, Schuite‐Koops, Sanne, Angkustsiri, Kathleen, Sun, Daqiang, Vajdi, Ariana, van den Bree, Marianne ORCID: https://orcid.org/0000-0002-4426-3254, Vorstman, Jacob, Thompson, Paul M., Vila‐Rodriguez, Fidel and Bearden, Carrie E. 2024. Source‐based morphometry reveals structural brain pattern abnormalities in 22q11.2 deletion syndrome. Human Brain Mapping 45 (1) , e26553. 10.1002/hbm.26553
file

Green, Katy, MacIver, Claire L., Ebden, Sian, Rees, D. A. ORCID: https://orcid.org/0000-0002-1165-9092 and Peall, Kathryn J. ORCID: https://orcid.org/0000-0003-4749-4944 2024. Pearls and Oy-sters: AARS2 leukodystrophy – tremor and tribulations. Neurology 102 (8) 10.1212/WNL.0000000000209296
file

Haddon, Josephine E. ORCID: https://orcid.org/0000-0001-5975-813X, Titherage, Daniel, Heckenast, Julia R., Carter, Jennifer, Owen, Michael J. ORCID: https://orcid.org/0000-0003-4798-0862, Hall, Jeremy ORCID: https://orcid.org/0000-0003-2737-9009, Wilkinson, Lawrence S. ORCID: https://orcid.org/0000-0002-9337-6124 and Jones, Matthew W. 2024. Linking haploinsufficiency of the autism- and schizophrenia-associated gene Cyfip1 with striatal-limbic-cortical network dysfunction and cognitive inflexibility. Translational Psychiatry 14 (1) , 256. 10.1038/s41398-024-02969-x
file

Hennegan, James, Bryant, Aled, Griffiths, Lauren, Trigano, Matthieu, Bartley, Oliver J. M., Bartlett, Joanna, Minahan, Carys, Abreu de Oliveira, Willy Antoni, Yutuc, Eylan, Ntikas, Sotiros, Bartsocas, Christos, Markouri, Margarita, Antoniadou, Eleni, Laina, Ioanna, Howell, Owain, Li, Meng ORCID: https://orcid.org/0000-0002-4803-4643, Wang, Yuqin, Griffiths, William, Lane, Emma L. ORCID: https://orcid.org/0000-0001-8800-3764, Lelos, Mariah ORCID: https://orcid.org/0000-0001-7102-055X and Theofilopoulos, Spyridon 2024. Inhibition of 7α,26-dihydroxycholesterol biosynthesis promotes midbrain dopaminergic neuron development. iScience 27 (1) , 108670. 10.1016/j.isci.2023.108670
file

Hunt, Megan, Underwood, Jack ORCID: https://orcid.org/0000-0003-1731-6039, Hubbard, Leon and Hall, Jeremy ORCID: https://orcid.org/0000-0003-2737-9009 2024. Risk of physical health comorbidities in autistic adults: a clinical nested cross-sectional study. BJPsych Open 10 (6) , e182. 10.1192/bjo.2024.777
file

Li, Zongze ORCID: https://orcid.org/0000-0002-9923-7205, Abram, Laura ORCID: https://orcid.org/0009-0005-8078-8209 and Peall, Kathryn ORCID: https://orcid.org/0000-0003-4749-4944 2024. Deciphering the pathophysiological mechanisms underpinning myoclonus dystonia using pluripotent stem cell-derived cellular models. Cells 13 (18) , 1520. 10.3390/cells13181520
file

Li, Zongze ORCID: https://orcid.org/0000-0002-9923-7205, Fernandez Cardo, Lucia, Rokicki, Michal, Monzon Sandoval, Jimena, Volpato, Viola, Wessely, Frank, Webber, Caleb ORCID: https://orcid.org/0000-0001-8063-7674 and Li, Meng ORCID: https://orcid.org/0000-0002-4803-4643 2024. Differential growth and transcriptomic profile of stem cell-derived midbrain astrocytes. eLife 13 , RP96423. 10.7554/eLife.96423.1
file

Stojanovska, Irena, Chatterjee, Anirban, Syed, Yasir Ahmed ORCID: https://orcid.org/0000-0001-9495-307X and Trajkovski, Vladimir 2024. The utilization of psychopharmacological treatments for individuals with autism spectrum disorder (ASD) in a middle-income European country. Research in Autism Spectrum Disorders 111 , 102329. 10.1016/j.rasd.2024.102329
file

Wellard, Natalie L., Clifton, Nicholas E. ORCID: https://orcid.org/0000-0003-2597-5253, Rees, Elliott ORCID: https://orcid.org/0000-0002-6168-9222, Thomas, Kerrie L. ORCID: https://orcid.org/0000-0003-3355-9583 and Hall, Jeremy ORCID: https://orcid.org/0000-0003-2737-9009 2024. The association of hippocampal long-term potentiation-induced gene expression with genetic risk for psychosis. International Journal of Molecular Sciences 25 (2) , 946. 10.3390/ijms25020946
file

Wren, Georgina, Flanagan, Jessica, Underwood, Jack ORCID: https://orcid.org/0000-0003-1731-6039, Thompson, Andrew ORCID: https://orcid.org/0000-0001-6788-7222, Humby, Trevor ORCID: https://orcid.org/0000-0002-1840-1799 and Davies, William ORCID: https://orcid.org/0000-0002-7714-2440 2024. Memory, mood and associated neuroanatomy in individuals with steroid sulfatase deficiency (X-linked ichthyosis). Genes, Brain and Behavior 23 (3) , e12893. 10.1111/gbb.12893
file

Wren, Georgina H. and Davies, William ORCID: https://orcid.org/0000-0002-7714-2440 2024. Cardiac arrhythmia in individuals with steroid sulfatase deficiency (X linked ichthyosis): candidate anatomical and biochemical pathways. Essays in Biochemistry 68 (4) , pp. 423-429. 10.1042/EBC20230098
file

Book Section

Wheeler, Vanessa C., Stone, Joseph C., Massey, Thomas H. ORCID: https://orcid.org/0000-0002-9804-2131 and Mouro Pinto, Ricardo 2024. The instability of the Huntington's disease CAG repeat mutation. Yang, X. William, Thompson, Leslie M. and Heiman, Myriam, eds. Huntington's disease. Pathogenic mechanisms and implications for therapeutics, London, UK: Academic Press, pp. 85-115. (10.1016/B978-0-323-95672-7.00003-0)

Website Content

Wren, Georgina, O'Callaghan, Peter, Zaidi, Abbas, Thompson, Andrew ORCID: https://orcid.org/0000-0001-6788-7222, Humby, Trevor ORCID: https://orcid.org/0000-0002-1840-1799 and Davies, William ORCID: https://orcid.org/0000-0002-7714-2440 2024. Monitoring heart rhythms in adult males with X-linked ichthyosis using wearable technology: a feasibility study. [Online]. Research Square. Available at: https://www.researchsquare.com/article/rs-5320157/...
file

This list was generated on Tue Nov 18 12:36:45 2025 GMT.


Maintained by Cardiff University IT