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. 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. 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

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).