http://sro.sussex.ac.uk/ http://sro.sussex.ac.uk/images/sitelogo.png http://sro.sussex.ac.uk/ Mon, 27 Nov 2023 07:50:26 +0000 Mon, 27 Nov 2023 07:50:26 +0000 en Mon, 10 Jan 2022 08:08:35 +0000 http://sro.sussex.ac.uk/id/eprint/103739/ http://sro.sussex.ac.uk/id/eprint/103739/ Vanoevelen, Jo M, Bierau, Jörgen, Grashorn, Janine C, Lambrichs, Ellen, Kamsteeg, Erik-Jan, Bok, Levinus A, Wevers, Ron A, van der Knaap, Marjo S, Bugiani, Marianna, Frisk, Junmei Hu, Colnaghi, Rita, O’Driscoll, Mark, Hellebrekers, Debby M E I, Rodenburg, Richard, Ferreira, Carlos R, Brunner, Han G, van den Wijngaard, Arthur, Abdel-Salam, Ghada M H, Wang, Liya and Stumpel, Constance T R M (2022) DTYMK is essential for genome integrity and neuronal survival. Acta Neuropathologica. a143 245-262. ISSN 0001-6322 Fri, 26 Apr 2019 12:21:56 +0100 http://sro.sussex.ac.uk/id/eprint/83390/ http://sro.sussex.ac.uk/id/eprint/83390/ Van Esch, Hilde, Colnaghi, Rita, Freson, Kathleen, Starokadomskyy, Petro, Zankl, Andreas, Backx, Liesbeth, Abramowicz, Iga, Outwin, Emily, Rohena, Luis, Faulkner, Claire, Leong, Gary M, Newbury-Ecob, Ruth A, Challis, Rachel C, Õunap, Katrin, Jaeken, Jacques, Seuntjens, Eve, Devriendt, Koen, Burstein, Ezra, Low, Karen J and O'Driscoll, Mark (2019) Defective DNA polymerase α-primase leads to X-linked intellectual disability associated with severe growth retardation, microcephaly, and hypogonadism. American Journal of Human Genetics, 104 (5). pp. 957-967. ISSN 1537-6605 Mon, 19 Dec 2016 17:00:50 +0000 http://sro.sussex.ac.uk/id/eprint/65957/ http://sro.sussex.ac.uk/id/eprint/65957/ 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 Fri, 18 Mar 2016 11:39:38 +0000 http://sro.sussex.ac.uk/id/eprint/60085/ http://sro.sussex.ac.uk/id/eprint/60085/ 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 Tue, 09 Sep 2014 14:08:36 +0100 http://sro.sussex.ac.uk/id/eprint/49878/ http://sro.sussex.ac.uk/id/eprint/49878/ Payne, Felicity, Colnaghi, Rita, Rocha, Nuno, Seth, Asha, Harris, Julie, Carpenter, Gillian, Bottomley, William E, Wheeler, Eleanor, Wong, Stephen, Saudek, Vladimir, Savage, David, O'Rahilly, Stephen, Carel, Jean-Claude, Barroso, Inês, O'Driscoll, Mark and Semple, Robert (2014) Hypomorphism in human NSMCE2 linked to primordial dwarfism and insulin resistance. The Journal of Clinical Investigation, 124 (9). pp. 4028-4038. ISSN 0021-9738 Mon, 01 Jul 2013 13:16:09 +0100 http://sro.sussex.ac.uk/id/eprint/45556/ http://sro.sussex.ac.uk/id/eprint/45556/ Kerzendorfer, Claudia, Colnaghi, Rita, Abramowicz, Iga, Carpenter, Gillian and O'Driscoll, Mark (2013) Meier–Gorlin syndrome and Wolf–Hirschhorn syndrome: two developmental disorders highlighting the importance of efficient DNA replication for normal development and neurogenesis. DNA Repair, 12 (8). pp. 637-644. ISSN 1568-7864 Thu, 14 Mar 2013 08:50:42 +0000 http://sro.sussex.ac.uk/id/eprint/41577/ http://sro.sussex.ac.uk/id/eprint/41577/ Havard, Chansonette, Strong, Emma, Mercier, Eloi, Colnaghi, Rita, Alcantara, Diana Rita Ralha, Chow, Eva, Martell, Sally, Tyson, Christine, Hrynchak, Monica, McGillivray, Barbara, Hamilton, Sara, Marles, Sandra, Mhanni, Aziz, Dawson, Angelika J, Pavlidis, Paul and Qiao, Ying (2011) Understanding the impact of 1q21.1 copy number variant. Orphanet Journal of Rare Diseases, 6 (54). pp. 1-12. ISSN 1750-1172 Mon, 23 Apr 2012 13:03:51 +0100 http://sro.sussex.ac.uk/id/eprint/7497/ http://sro.sussex.ac.uk/id/eprint/7497/ Colnaghi, Rita, Carpenter, Gillian, Volker, Marcel and O'Driscoll, Mark (2011) The Consequences of structural genomic alterations in humans: Genomic Disorders, genomic instability and cancer. Seminars in Cell and Developmental Biology, 22 (8). pp. 875-885. ISSN 1084-9521 Thu, 19 Apr 2012 08:37:02 +0100 http://sro.sussex.ac.uk/id/eprint/38513/ http://sro.sussex.ac.uk/id/eprint/38513/ 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 Mon, 06 Feb 2012 21:29:43 +0000 http://sro.sussex.ac.uk/id/eprint/31484/ http://sro.sussex.ac.uk/id/eprint/31484/ Connell, Claire M, Colnaghi, Rita and Wheatley, Sally P (2008) Nuclear survivin has reduced stability and is not cytoprotective. Journal of Biological Chemistry, 238 (6). pp. 3289-3296. ISSN 0021-9258 Mon, 06 Feb 2012 21:02:13 +0000 http://sro.sussex.ac.uk/id/eprint/29221/ http://sro.sussex.ac.uk/id/eprint/29221/ Kerzendorfer, Claudia, Hart, Lesley, Colnaghi, Rita, Carpenter, Gillian, Alcantara, Diana, Outwin, Emily, Carr, Antony M and O'Driscoll, Mark (2011) CUL4B-deficiency in humans: Understanding the clinical consequences of impaired Cullin 4-RING E3 ubiquitin ligase function. Mechanisms of Ageing and Disease. Mon, 06 Feb 2012 20:59:58 +0000 http://sro.sussex.ac.uk/id/eprint/29046/ http://sro.sussex.ac.uk/id/eprint/29046/ Colnaghi, Rita, Carpenter, Gillian, Volker, Marcel and O'Driscoll, Mark (2011) The consequences of structural genomic alterations in humans: genomic disorders, genomic instability & cancer. Seminars in Cell & Developmental Biology, 22 (8). pp. 875-885. ISSN 10849521 Mon, 06 Feb 2012 20:36:47 +0000 http://sro.sussex.ac.uk/id/eprint/26952/ http://sro.sussex.ac.uk/id/eprint/26952/ Harvard, Chansonette, Strong, Emma, Mercier, Eloi, Colnaghi, Rita, Alcantara, Diana, Chow, Eva, Martell, Sally, Tyson, Christine, Hrynchak, Monica, McGillivray, Barbara, Hamilton, Sara, Marles, Sandra, Mhanni, Aziz, Dawson, Angelika J, Pavlidis, Paul, Qiao, Ying, Holden, Jeanette J, Lewis, Suzanne M E, O'Driscoll, Mark and Rajcan-Separovic, Evica (2011) Understanding the impact of 1q21.1 Copy Number Variant. Orphanet Journal of Rare Diseases, 6 (1 (54)). Mon, 06 Feb 2012 20:15:44 +0000 http://sro.sussex.ac.uk/id/eprint/25011/ http://sro.sussex.ac.uk/id/eprint/25011/ Noton, Elizabeth A, Colnaghi, Rita, Tate, Sharon, Starck, Carlene, Carvalho, Ana, Ferrigno, Paul Ko and Wheatley, Sally P (2006) Molecular analysis of survivin isoforms: evidence that alternatively spliced variants do not play a role in mitosis. Journal of Biological Chemistry, 281 (2). pp. 1286-1295. ISSN 0021-9258 Mon, 06 Feb 2012 19:14:31 +0000 http://sro.sussex.ac.uk/id/eprint/19706/ http://sro.sussex.ac.uk/id/eprint/19706/ Colnaghi, Rita, Carpenter, Gillian, Volker, Marcel and O'Driscoll, Mark (2011) The consequences of structural genomic alterations in humans: Genomic Disorders, genomic instability and cancer. Seminars in Cell & Developmental Biology. http://sro.sussex.ac.uk/id/eprint/2122/ http://sro.sussex.ac.uk/id/eprint/2122/ Connell, Claire M., Colnaghi, Rita and Wheatley, Sally P. (2008) Nuclear survivin has reduced stability and is not cytoprotective. Journal of Biological Chemistry, 238 (6). pp. 3289-3296. ISSN 0021-9258 http://sro.sussex.ac.uk/id/eprint/550/ http://sro.sussex.ac.uk/id/eprint/550/ Colnaghi, Rita, Connell, Claire, Barrett, Rachel Mary Alice and Wheatley, Sally Paula (2006) Separating the anti-apoptotic and mitotic roles of survivin. Journal of Biological Chemistry, 281 (44). pp. 33450-33456. 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