http://sro.sussex.ac.uk/ http://sro.sussex.ac.uk/images/sitelogo.png http://sro.sussex.ac.uk/ Mon, 27 Nov 2023 05:06:36 +0000 Mon, 27 Nov 2023 05:06:36 +0000 en 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 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 Wed, 06 Nov 2013 10:58:57 +0000 http://sro.sussex.ac.uk/id/eprint/46950/ http://sro.sussex.ac.uk/id/eprint/46950/ Qiao, Ying, Mondal, Kajari, Trapani, Valentina, Wen, Jiadi, Carpenter, Gillian, Wildin, Robert, Price, E Magda, Gibbons, Richard J, Eichmeyer, Jennifer, Jiang, Ruby, Dupont, Barbara, Martell, Sally, Lewis, Suzanne M E, Robinson, Wendy P, O'Driscoll, Mark, Wolf, Federica I, Zwick, Michael E and Rajcan-Separovic, Evica (2014) Variant ATRX syndrome with dysfunction of ATRX and MAGT1 genes. Human mutation, 35 (1). pp. 58-62. ISSN 1059-7794 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, 10 Jan 2013 14:09:10 +0000 http://sro.sussex.ac.uk/id/eprint/43439/ http://sro.sussex.ac.uk/id/eprint/43439/ Ogi, Tomoo, Walker, Sarah, Stiff, Tom, Hobson, Emma, Limsirichaikul, Siripan, Carpenter, Gillian, Prescott, Katrina, Suri, Mohnish, Byrd, Philip J, Matsuse, Michiko, Mitsutake, Norisato, Nakazawa, Yuka, Vasudevan, Pradeep, Barrow, Margaret, Stewart, Grant S, Taylor, A Malcolm R, O'Driscoll, Mark and Jeggo, Penny A (2012) Identification of the first ATRIP-deficient patient and novel mutations in ATR define a clinical spectrum for ATR-ATRIP Seckel Syndrome. PLoS Genetics, 8 (11). e1002945. ISSN 1553-7390 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 21:27:22 +0000 http://sro.sussex.ac.uk/id/eprint/31300/ http://sro.sussex.ac.uk/id/eprint/31300/ Outwin, Emily, Carpenter, Gillian, Bi, Weimin, Withers, Marjorie A, Lupski, James R and O'Driscoll, Mark (2011) Increased RPA1 gene dosage affects genomic stability potentially contributing to 17p13.3 duplication syndrome. PLoS Genetics, 7 (8). e1002247. ISSN 1553-7390 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 19:40:35 +0000 http://sro.sussex.ac.uk/id/eprint/21726/ http://sro.sussex.ac.uk/id/eprint/21726/ Hinton, Tracey M, Coldwell, Mark J, Carpenter, Gillian A, Morley, Simon J and Pain, Virginia M (2007) Functional Analysis of Individual Binding Activities of the Scaffold Protein eIF4G. Journal of Biological Chemistry, 282 (3). pp. 1695-1708. 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. Mon, 06 Feb 2012 18:35:07 +0000 http://sro.sussex.ac.uk/id/eprint/17255/ http://sro.sussex.ac.uk/id/eprint/17255/ Raffan, Eleanor, Hurst, Liam A, Al Turki, Saeed, Carpenter, Gillian, Scott, Carol, Daly, Allan, Coffey, Alison, Bhaskar, Sanjeev, Howard, Eleanor, Khan, Naz, Kingston, Helen, Palotie, Aarno, Savage, David B, O'Driscoll, Mark, Smith, Claire, O'Rahilly, Stephen, Barroso, Inês and Semple, Robert K (2011) Early diagnosis of Werner's syndrome using exome-wide sequencing in a single, atypical patient. Frontiers in Genomic Endocrinology, 2 (Articl). Mon, 06 Feb 2012 18:11:41 +0000 http://sro.sussex.ac.uk/id/eprint/15157/ http://sro.sussex.ac.uk/id/eprint/15157/ Bushell, Martin, Wood, Wendy, Carpenter, Gillian, Pain, Virginia M, Morley, Simon J and Clemens, Michael J (2001) Disruption of the interaction of mammalian protein synthesis eukaryotic initiation factor 4B with the poly(A)-binding protein by caspase- and viral-mediated proteases. Journal of Biological Chemistry, 276 (26). pp. 23922-23928. ISSN 0021-9258