A

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

B

Bagheri, Hani, Badduke, Chansonette, Qiao, Ying, Colnaghi, Rita, Abramowicz, Iga, Alcantara, Diana, Dunham, Christopher, Wen, Jiadi, 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 1-20. ISSN 2379-3708

Banerjee, Anirban (2011) Development of an automated electrogustometer. Doctoral thesis (DPhil), University of Sussex.

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

K

Karasozen, Yigit, Osbun, Joshua W, Parada, Carolina Angelica, Busald, Tina, Tatman, Philip, Gonzalez-Cuyar, Luis F, Hale, Christopher J, Alcantara, Diana, O'Driscoll, Mark, Dobyns, William B, Murray, Mitzi, Kim, Louis J, Byers, Peter, Dorschner, Michael O and Ferreira, Manuel (2019) Somatic PDGFRB activating variants in fusiform cerebral aneurysms. American Journal of Human Genetics, 104 (5). pp. 968-976. ISSN 1537-6605

O

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.

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

R

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

S

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 0964-6906