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

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

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

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

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

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

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

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

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

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.

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).

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.

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

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