A

Addisu, S, El-Metwally, T H, Davey, G, Worku, Y and Titheradge, M A (2010) The role of transforming growth factor-beta1 and oxidative stress in podoconiosis pathogenesis. British Journal of Dermatology, 162 (5). pp. 998-1003. ISSN 1365-2133

Alcantara, Diana, Timms, Andrew E, Gripp, Karen, Baker, Laura, Park, Kaylee, Collins, Sarah, Cheng, Chi, Stewart, Fiona, Mehta, Sarju G, Saggar, Anand, Sztriha, László, Zombor, Melinda, Caluseriu, Oana, Mesterman, Ronit, Van Allen, Margot I, Jacquinet, Adeline, Ygberg, Sofia, Bernstein, Jonathan A, Wenger, Aaron M, Guturu, Harendra, Bejerano, Gill, Gomez-Ospina, Natalia, Lehman, Anna, Alfei, Enrico, Pantaleoni, Chiara, Conti, Valerio, Guerrini, Renzo, Moog, Ute, Graham Jr., John M, Hevner, Robert, Dobyns, William B, O'Driscoll, Mark and Mirzaa, Ghayda M (2017) Mutations of AKT3 are associated with a wide spectrum of developmental disorders including extreme megalencephaly. Brain, 140 (10). pp. 2610-2622. ISSN 0006-8950

B

Bigini, Paolo, Steffensen, Knut R, Ferrario, Anna, Diomede, Luisa, Ferrara, Giovanni, Barbera, Sara, Salzano, Sonia, Fumagalli, Elena, Ghezzi, Pietro, Mennini, Tiziana and Gustafsson, Jan-Ake (2010) Neuropathologic and biochemical changes during disease progression in liver X receptor beta-/- mice, a model of adult neuron disease. Journal of Neuropathology & Experimental Neurology, 69 (6). pp. 593-605. ISSN 0022-3069

C

Clanchy, Felix I.L. and Sacre, Sandra M. (2010) Modulation of toll-like receptor function has therapeutic potential in autoimmune disease. Expert Opinion on Biological Therapy, 10 (12). pp. 1703-1716. ISSN 1471-2598

Cohen-Woods, Sarah, Craig, Ian, Gaysina, Darya and et al, (2010) The Bipolar Association case-control study (BACCS) and meta-analysis: no association with the 5,10-Methylenetetrahydrofolate reductase gene and bipolar disorder. American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, 153B (7). pp. 1298-1304. ISSN 1552-4841

E

Elmasri, Marwa (2020) Mechanisms underlying synaptic phenotypes arising from human disease mutations in NMDA receptors. Doctoral thesis (PhD), University of Sussex.

F

Fitzgerald, Brendan, O'Driscoll, Mark, Chong, Karen, Keating, Sarah and Shannon, Patrick (2012) Neuropathology of fetal stage Seckel syndrome: A case report providing a morphological correlate for the emerging molecular mechanisms. Brain and Development, 34 (3). pp. 238-243. ISSN 0387-7604

G

Gaysina, Darya, Cohen-Woods, Sarah, Chow, Philip C, Martucci, Livia, Schosser, Alexandra, Ball, Harriet A, Tozzi, Federica, Perry, Julia, Muglia, Pierandrea, Kennedy, James L, King, Nicole, Vincent, John B, Parikh, Sagar V, Strauss, John, Craig, Ian W, McGuffin, Peter and Farmer, Anne (2010) Association analysis of DAOA and DAO in bipolar disorder: results from two independent case-control studies. Bipolar Disorders, 12 (5). pp. 579-581. ISSN 1398-5647

K

Kerzendorfer, Claudia, Hannes, Femke, Colnaghi, Rita, Abramowicz, Iga, Carpenter, Gillian, Vermeesch, Joris Robert and O'Driscoll, Mark (2012) Characterizing the functional consequences of haploinsufficiency of NELF-A (WHSC2) and SLBP identifies novel cellular phenotypes in Wolf-Hirschhorn syndrome. Human Molecular Genetics, 21 (10). pp. 2181-2193. ISSN 0964-6906

L

Ladikou, Eleni E, Sivaloganathan, Helena, Milne, Kate M, Arter, William E, Ramasamy, Roshan, Saad, Ramy, Stoneham, Simon M, Phillips, Barbara, Eziefula, Alice C and Chevassut, Timothy (2020) Von Willebrand Factor (vWF): marker of endothelial damage and thrombotic risk in COVID-19? Clinical Medicine, 20 (5). e178-e182. ISSN 1470-2118

M

Mengozzi, M, Latini, R, Salio, M, Sfacteria, A, Piedimonte, G, Gerwien, J G, Leist, M, Siren, A L, Ghezzi, P and Chimenti, S (2006) Increased erythropoietin production after myocardial infarction in mice. Heart, 92 (6). pp. 838-9. ISSN 1468-201X

Mengozzi, Manuela, Cervellini, Ilaria, Bigini, Paolo, Martone, Sara, Biondi, Antonella, Pedotti, Rosetta, Gallo, Barbara, Barbera, Sara, Mennini, Tiziana, Boraso, Mariaserena, Marinovich, Marina, Petit, Edwige, Bernaudin, Myriam, Bianchi, Roberto, Viviani, Barbara and Ghezzi, Pietro (2008) Endogenous erythropoietin as part of the cytokine network in the pathogenesis of experimental autoimmune encephalomyelitis. Molecular Medicine, 14 (11-12). pp. 682-688. ISSN 1076-1551

Molla, Yordanos B, Wardrop, Nicola A, Le Blond, Jennifer S, Baxter, Peter, Newport, Melanie J, Atkinson, Peter M and Davey, Gail (2014) Modelling environmental factors correlated with podoconiosis. International Journal of Health Geographics, 13 (24). ISSN 1476-072X

P

Pentland, Ieisha, Campos-León, Karen, Cotic, Marius, Davies, Kelli-Jo, Wood, C David, Groves, Ian J, Burley, Megan, Coleman, Nicholas, Stockton, Joanne D, Noyvert, Boris, Beggs, Andrew, West, Michelle J, Roberts, Sally and Parish, Joanna L (2018) Disruption of CTCF-YY1–dependent looping of the human papillomavirus genome activates differentiation-induced viral oncogene transcription. PLoS Biology, 16 (10). e2005752 1-28. ISSN 1544-9173

S

Samaan, Zainab, Gaysina, Daria, Cohen-Woods, Sarah, Craddock, Nick, Jones, Lisa, Korszun, Ania, Owen, Mike, Mente, Andrew, McGuffin, Peter and Farmer, Anne (2011) Methylenetetrahydrofolate reductase gene variant (MTHFR C677T) and migraine: a case control study and meta-analysis. BMC Neurology, 11 (1). p. 66. ISSN 1471-2377

Schosser, A, Cohen-Woods, S, Gaysina, D, Chow, P C, Martucci, L, Farmer, A, Korszun, A, Gunashinghe, C, Gray, J, Jones, L, Craddock, N, Owen, M J, Craig, I W and McGuffin, P (2010) NRG1gene in recurrent major depression: No association in a large-scale case-control association study. American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, 153B (1). pp. 141-147. ISSN 1552-4841

Schosser, A, Gaysina, D, Cohen-Woods, S, Domenici, E, Perry, J, Tozzi, F, Korszun, A, Gunasinghe, C, Gray, J, Jones, L, Binder, E B, Holsboer, F, Craddock, N, Owen, M J, Craig, I W, Farmer, A E, Muglia, P and McGuffin, P (2011) A follow-up case-control association study of tractable (druggable) genes in recurrent major depression. American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, 156 (6). pp. 640-650. ISSN 1552-4841

Serra, L, Cercignani, M, Basile, B, Spanò, B, Perri, R, Fadda, L, Marra, C, Giubilei, F, Caltagirone, C and Bozzali, M (2012) White matter damage along the uncinate fasciculus contributes to cognitive decline in AD and DLB. Current Alzheimer Research, 9 (3). pp. 326-333. ISSN 1875-5828

Shafi, Shafi, Lamb, David, Modjtahedi, Helmout and Ferns, Gordon (2010) Periadventitial delivery of anti-EGF receptor antibody inhibits neointimal macrophage accumulation after angioplasty in a hypercholesterolaemic rabbit. International Journal Of Experimental Pathology, 91 (3). pp. 224-234. ISSN 0959-9673

Smith, Thomas, Ho, Gladys, Christodoulou, John, Price, Elizabeth Ann, Onadim, Zerrin, Gauthier-Villars, Marion, Dehainault, Catherine, Houdayer, Claude, Parfait, Beatrice, van Minkelen, Rick, Lohman, Dietmar and Eyre-Walker, Adam (2016) Extensive variation in the mutation rate between and within human genes associated with Mendelian disease. Human Mutation, 37 (5). pp. 488-494. ISSN 1059-7794

T

Tanaka, Akio, Weinel, Sarah, Nagy, Nikoletta, O'Driscoll, Mark, Lai-Cheong, Joey E, Kulp-Shorten, Carol L, Knable, Alfred, Carpenter, Gillian, Fisher, Sheila A, Hiragun, Makiko, Yanase, Yuhki, Hide, Michihiro, Callen, Jeffrey and McGrath, John A (2012) Germline Mutation in ATR in Autosomal- Dominant Oropharyngeal Cancer Syndrome. American Journal of Human Genetics, 90 (3). pp. 511-517. ISSN 0002-9297

Tekola-Ayele, Fasil, Adeyemo, Adebowale, Assefa, Abraham, Hailu, Elena, Finan, Christopher, Davey, Gail, Rotimi, Charles and Newport, Melanie (2015) Clinical and pharmacogenomic implications of genetic variation in an Ethiopian population. Pharmacogenomics Journal, 15 (1). pp. 101-108. ISSN 1470-269X

W

Walmsley, Gemma L, Arechavala-Gomeza, Virginia, Fernandez-Fuente, Marta, Burke, Margaret M, Nagel, Nicole, Holder, Angela, Stanley, Rachael, Chandler, Kate, Marks, Stanley L, Muntoni, Francesco, Shelton, G Diane and Piercy, Richard J (2010) A duchenne muscular dystrophy gene hot spot mutation in dystrophin-deficient Cavalier King Charles Spaniels is amenable to exon 51 skipping. PLoS ONE, 5 (1). e8647. ISSN 1932-6203