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- Library of Congress Subject Areas (8)
- Q Science (8)
- QM Human anatomy (8)
- QM0531 Regional anatomy (8)
- QM Human anatomy (8)
- Q Science (8)
Article
Abramowicz, Iga, Carpenter, Gillian, Alfieri, Mariaevelina, Colnaghi, Rita, Outwin, Emily, Parent, Philippe, Thauvin-Robinet, Christel, Iaconis, Daniela, Franco, Brunella and O'Driscoll, Mark (2017) Oral-Facial-Digital syndrome Type I cells exhibit impaired DNA repair; unanticipated consequences of defective OFD1 outside of the cilia network. Human Molecular Genetics, 26 (1). pp. 19-32. ISSN 0964-6906
Bagheri, Hani, Badduke, Chansonette, Qiao, Ting, Colnaghi, Rita, Abramowicz, Iga, Alcantara, Diana, Dunham, Christopher, Wen, Jladl, Wlldln, Robert S, Nowaczyk, Malgorzata J M, Elchmeyer, Jennifer, Lehman, Anna, Maranda, Bruno, Martell, Sally, Shan, Xianghong, Lewis, Suzanne M E, O'Driscoll, Mark, Gregory-Evans, Cheryl Y and Rajcan-Separovic, Evica (2016) Identifying candidate genes for 2p15p16.1 microdeletion syndrome using clinical, genomic, and functional analysis. Journal of Clinical Investigation Insight, 1 (3). e85461. ISSN 2379-3708
Bennett, James T, Tan, Tiong Yang, Alcantara, Diana, Tétrault, Martine, Timms, Andrew E, Jensen, Dana, Collins, Sarah, Nowaczyk, Malgorzata J M, Lindhurst, Marjorie J, Christensen, Katherine M, Braddock, Stephen R, Brandling-Bennett, Heather, Hennekam, Raoul C M, Chung, Brian, Lehman, Anna, Su, John, Ng, SuYuen, Amor, David J, Majewski, Jacek, Biesecker, Les G, Boycott, Kym M, Dobyns, William B, O'Driscoll, Mark, Moog, Ute and McDonell, Laura M (2016) Mosaic activating mutations in FGFR1 cause encephalocraniocutaneous lipomatosis. The American Journal of Human Genetics, 98 (3). pp. 579-587. ISSN 0002-9297
O'Driscoll, Mark (2017) The pathological consequences of impaired genome integrity in humans; disorders of the DNA replication machinery. Journal of Pathology, 241 (2). pp. 192-207. ISSN 0022-3417
Rae, Charlotte, Davies, Geoff, Garfinkel, Sarah, Gabel, Matthew, Dowell, Nicholas, Cercignani, Mara, Seth, Anil, Greenwood, Kathryn E, Medford, Nick and Critchley, Hugo (2017) Deficits in neurite density underlie white matter structure abnormalities in first-episode psychosis. Biological Psychiatry, 82 (10). pp. 716-725. ISSN 0006-3223
Stiff, Tom, Casar Tena, Teresa, O'Driscoll, Mark, Jeggo, Penny A and Philipp, Melanie (2016) ATR promotes cilia signalling: links to developmental impacts. Human molecular genetics, 25 (8). pp. 1574-1587. ISSN 1460-2083
Thesis
Banerjee, Anirban (2011) Development of an automated electrogustometer. Doctoral thesis (DPhil), University of Sussex.
O'Connor, Eoin (2011) Investigations into the role of the metabotropic glutamate receptor, mGluR5, in incentive learning and some behavioural and neurobiological effects of cocaine. Doctoral thesis (DPhil), University of Sussex.