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Alcantara, Diana, Elmslie, Frances, Tetreault, Martine, Bareke, Eric, Hartley, Taila, Care4Rare Consortium, , Majewski, Jacek, Boycott, Kym, Innes, A Micheil, Dyment, David A and O'Driscoll, Mark (2017) SHORT syndrome due to a novel de novo mutation in PRKCE (Protein Kinase Cɛ) impairing TORC2-dependent AKT activation. Human Molecular Genetics, 26 (19). pp. 3713-3721. ISSN 1460-2083

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

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

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

Bagheri, Hani, Badduke, Chansonette, Qiao, Ting, Colnaghi, Rita, Abramowicz, Iga, Alcantara, Diana, Dunham, Christopher, Wen, Jladl, 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. ISSN 2379-3708

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. American journal of human genetics, 98 (3). pp. 579-587. ISSN 1537-6605

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. ISSN 1460-2083

Donato, Nataliya Di, Rump, Andreas, Mirzaa, Ghayda M, Alcantara, Diana, Oliver, Antony, Schrock, Evelin, Dobyns, William B and O'Driscoll, Mark (2015) Identification and characterisation of a novel constitutional PIK3CA mutation in a child lacking the typical segmental overgrowth of "PIK3CA-Related Overgrowth Spectrum" (PROS). Human Mutation, 37 (3). pp. 242-245. ISSN 1059-7794

Gomez, Valenti, Gundogdu, Ramazan, Gomez, Marta, Hoa, Lily, Panchal, Neelam, O’Driscoll, Mark and Hergovich, Alexander (2015) Regulation of DNA damage responses and cell cycle progression by hMOB2. Cellular Signalling, 27 (2). pp. 326-339. ISSN 0898-6568

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

Alcantara, Diana and O'Driscoll, Mark (2014) Congenital microcephaly. American Journal of Medical Genetics Part C: Seminars in Medical Genetics, 166 (2). pp. 124-139. ISSN 1552-4868

Mirzaa, Ghyada M, Vitre, Benjamin, Carpenter, Gillian, Abramowicz, Iga, Gleeson, Joseph G, Paciorkowski, Alex R, Cleveland, Don W., Dobyns, William B and O'Driscoll, Mark (2014) Mutations in CENPE define a novel kinetochore-centromeric mechanism for microcephalic primordial dwarfism. Human Genetics. ISSN 0340-6717

Hart, LesleyRuth, Rauch, Anita, Carr, Antony, Vermeesch, Joris R and O'Driscoll, Mark (2014) LETM1 haploinsufficiency causes mitochondrial defects in cells from humans with Wolf-Hirschhorn syndrome: implications for dissecting the underlying pathomechanisms in this condition. Disease Models and Mechanisms, 7. pp. 535-545. ISSN 1754-8403

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 1098-1004

Hart, Lesley and O'Driscoll, Mark (2013) Causes and consequences of structural genomic alterations in the human genome. Encyclopedia of Life Sciences. pp. 1-10.

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

O'Driscoll, Mark (2013) INK4a/ARF-dependent senescence upon persistent replication stress. Cell Cycle, 12 (13). pp. 1997-1998. ISSN 1538-4101

Dyment, David A, Smith, Amanda C, Alcantara, Diana, Schwartzentruber, Jeremy A, Basel-Vanagaite, Lina, Curry, Cynthia J, Temple, I Karen, Reardon, William, Mansour, Sahar, Haq, Mushfequr R, Gilbert, Rodney, Lehmann, Ordan J, Vanstone, Megan R, Beaulieu, Chandree L, FORGE Canada Consortium, , Majewski, Jacek, Bulman, Dennis E, O'Driscoll, Mark, Boycott, Kym M and Inness, A Micheil (2013) Mutations in PIK3R1 cause SHORT syndrome. American Journal of Human Genetics, 93 (1). pp. 158-166. ISSN 0002-9297

McDonell, Laura M, Mirzaa, Ghayda M, Alcantara, Diana, Schwartzentruber, Jeremy, Carter, Melissa T, Lee, Leo J, Clericuzio, Carol L, Graham, John M, Morris-Rosendahl, Deborah J, Polster, Tilman, Acsadi, Gyula, Townshend, Sharron, Williams, Simon, Halbert, Anne, Isidor, Bertrand, David, Albert, Smyser, Christopher D, Paciorkowski, Alex R, Willing, Marcia, Woulfe, John, Das, Soma, Beaulieu, Chandree L, Marcadier, Janet, FORGE Canada Consortium, , Geraghty, Michael T, Frey, Brendan J, Majewski, Jacek, Bulman, Dennis E, Dobyns, William B, O'Driscoll, Mark and Boycott, Kym M (2013) Mutations in STAMBP, encoding a deubiquitinating enzyme, cause microcephaly-capillary malformation syndrome. Nature genetics, 45 (5). pp. 556-562. ISSN 1546-1718

Stiff, Tom, Alagoz, Meryem, Alcantara, Diana, Outwin, Emily, Brunner, Han G, Bongers, Ernie M H F, O'Driscoll, Mark and Jeggo, Penny A (2013) Deficiency in origin licensing proteins impairs cilia formation: implications for the aetiology of meier-gorlin syndrome. PLoS genetics, 9 (3). e1003360. ISSN 1553-7404

O'Driscoll, Mark (2012) Diseases associated with defective responses to DNA damage. Cold Spring Harbor Perspectives in Biology, 4 (12). :a012773. ISSN 1943-0264

Rivière, Jean-Baptiste, Mirzaa, Ghayda M, O'Roak, Brian J, Beddaoui, Margaret, Alcantara, Diana, Conway, Robert L, St-Onge, Judith, Schwartzentruber, Jeremy A, Gripp, Karen W, Nikkel, Sarah M, Worthylake, Thea, Sullivan, Christopher T, Ward, Thomas R, Butler, Hailly E, Kramer, Nancy A, Albrecht, Beate, Armour, Christine M, Armstrong, Linlea, Caluseriu, Oana, Cytrynbaum, Cheryl, Drolet, Beth A, Innes, A Micheil, Lauzon, Julie L, Lin, Angela E, Mancini, Grazia M S, Meschino, Wendy S, Reggin, James D, Saggar, Anand K, Lerman-Sagie, Tally, Uyanik, Gökhan, Weksberg, Rosanna, Zirn, Birgit, Beaulieu, Chandree L, (FORGE):, Finding of Rare Disease Genes Canada Consortium, Majewski, Jacek, Bulman, Dennis E, O'Driscoll, Mark, Shendure, Jay, Graham Jr, John M, Boycott, Kym M and Dobyns, William B (2012) De novo germline and postzygotic mutations in AKT3, PIK3R2 and PIK3CA cause a spectrum of related megalencephaly syndromes. Nature Genetics, 44 (8). pp. 934-940. ISSN 1546-1718

Tanaka, Akio, Weinel, Sarah, Nagy, Nikoletta, O'Driscoll, Mark, Lai-Cheong, Joey E, Kulp-Shorten, Carol L, Knable, Alfred, Carpenter, Gillian, Fisher, Sheila A, Hiragun, Makiko, Yanase, Yuhki, Hide, Michihiro, Callen, Jeffrey and McGrath, John A (2012) Germline Mutation in ATR in Autosomal- Dominant Oropharyngeal Cancer Syndrome. American Journal of Human Genetics, 90 (3). pp. 511-517. ISSN 0002-9297

Fitzgerald, Brendan, O'Driscoll, Mark, Chong, Karen, Keating, Sarah and Shannon, Patrick (2012) Neuropathology of fetal stage Seckel syndrome: A case report providing a morphological correlate for the emerging molecular mechanisms. Brain and Development, 34 (3). pp. 238-243. ISSN 0387-7604

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

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)).

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).

Huang-Doran, I, Bicknell, LS, Finucane, FM, Rocha, N, Porter, KM, Tung, YCL, Szekeres, F, Krook, A, Nolan, JJ, O'Driscoll, Mark, Bober, M, O'Rahilly, S, Jackson, AP and Semple, R.K (2011) Genetic Defects in Human Pericentrin Are Associated With Severe Insulin Resistance and Diabetes. Diabetes, 60 (3). pp. 925-935. ISSN 00121797

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.

Bicknell, Louise S, Walker, Sarah, Klingseisen, Anna, Stiff, Tom, Leitch, Andrea, Kerzendorfer, Claudia, Martin, Carol-Anne, Yeyati, Patricia, Al Sanna, Nouriya, Bober, Michael, Johnson, Diana, Wise, Carol, Jackson, Andrew P, O'Driscoll, Mark and Jeggo, Penny A (2011) Mutations in ORC1, encoding the largest subunit of the origin recognition complex, cause microcephalic primordial dwarfism resembling Meier-Gorlin syndrome. Nature Genetics, 43 (4). pp. 350-355. ISSN 1061-4036

Kerzendorfer, C., Whibley, A., Carpenter, G., Outwin, E., Chiang, Shih-Chieh, Turner, G., Schwartz, C, El-Khamisy, S., Raymond, F.Lucy and O'Driscoll, M. (2010) Mutations in Cullin 4B result in a human syndrome associated with increased camptothecin-induced topoisomerase I-dependent DNA breaks. Human Molecular Genetics, 19 (7). pp. 1324-1334. ISSN 0964-6906

O'Driscoll, Mark (2009) Mouse models for ATR deficiency. DNA Repair, 8 (11). pp. 1333-1337. ISSN 1568-7864

Kerzendorfer, Claudia and O'Driscoll, Mark (2009) Human DNA damage response & repair deficiency syndromes: linking genomic instability and cell cycle checkpoint proficiency. DNA Repair, 8 (9). pp. 1139-1152.

O'Driscoll, Mark (2009) Life can be stressful without ATR. Nature Genetics, 41 (8). pp. 866-888. ISSN 10614036

Kerzendorfer, Claudia and O'Driscoll, Mark (2009) UVB and Caffeine: Inhibiting the DNA damage response to protect against the adverse effects of UVB. Journal of Investigative Dermatology, 129 (7). pp. 1611-1613.

O'Driscoll, M (2009) Defects in the ATR-Dependent DNA Damage Response Pathway and Human Syndromes. Acta Medica, Nagasaki, 53. pp. 23-30. ISSN 0001-6055

O'Driscoll, M (2009) Life can be stressful without ATR. Nature Genetics, 41 (8). ISSN 1061-4036

Kerzendorfer, C and O'Driscoll, M (2009) UVB and caffeine: inhibiting the DNA damage response to protect against the adverse effects of UVB. Investigative Dermatology, 129. ISSN 0022-202X

Stiff, Thomas, Cerosaletti, K, Concannon, P, O'Driscoll, Mark and Jeggo, Penny (2008) Replication independent ATR signalling leads to G2/M arrest requiring Nbs1, 53BP1 and MDC1. Human Molecular Genetics, 17 (20). pp. 3247-3253. ISSN 09646906

O'Driscoll, Mark and Jeggo, Penny (2008) The role of the DNA damage response pathways in brain development and microcephaly: insight from human disorders. DNA Repair, 7 (7). pp. 1039-1050. ISSN 15687864

O'Driscoll, Mark and Jeggo, Penny (2008) Cyclosporine A can induce DNA double strand breaks: implications for bone marrow transplantation regimens particularly for individuals with defective DNA repair. Bone Marrow Transplantation, 41 (11). pp. 983-989. ISSN 02683369

O'Driscoll, M (2008) TREX1 DNA exonuclease deficiency, accumulation of single stranded DNA and complex human genetic disorders. DNA Repair, 7 (6). pp. 997-1003. ISSN 1568-7864

O'Driscoll, Mark (2008) Haploinsufficiency of DNA Damage response genes and their potential influence in human genomic disorders. Current Genomics, 9 (3). pp. 137-146. ISSN 13892029

O'Driscoll, M (2008) Haploinsufficiency of DNA Damage response genes and their potential influence in human genomic disorders. Current Genomics, 9 (3). pp. 137-146. ISSN 1389-2029

Griffith, Elen, Walker, Sarah, Martin, Carol-Anne, Vagnarelli, Paola, Stiff, Tom, Vernay, Bertrand, Al Sanna, Nouriya, Saggar, Anand, Hamel, Ben, Earnshaw, William C, Jeggo, Penny A, Jackson, Andrew P and O'Driscoll, Mark (2008) Mutations in pericentrin cause Seckel syndrome with defective ATR-dependent DNA damage signaling. Nature Genetics, 40 (2). pp. 232-235. ISSN 1061-4036

O'Driscoll, M and Jeggo, P.A. (2008) Cyclosporine A can induce DNA double strand breaks: implications for bone marrow transplantation regimens particularly for individuals with defective DNA repair. Bone Marrow Transplantation, 41 (11). pp. 983-989. ISSN 0268-3369

Griffith, E., Walker, S., Martin, C.A., Vagnarelli, P., Stiff, T., Vernay, B., Al Sanna, N., Saggar, A., Hamel, B., Earnshaw, W.C., Jeggo, P.A., Jackson, A.P. and O'Driscoll, M. (2008) Mutations in pericentrin cause Seckel syndrome with defective ATR-dependent DNA damage signaling. Nature Genetics, 40 (2). pp. 232-236. ISSN 1061-4036

Griffith, E, Walker, Sarah, Stiff, Thomas, Martin, C-A, Vagnarelli, P, Vernay, B, Sanna, N.A, Saggar, A, Hamel, B, Earnshaw, W.C, Jeggo, Penny, Jackson, A.P and O'Driscoll, Mark (2008) Mutations in pericentrin cause Seckel syndrome with defective ATR-dependent DNA damage signaling. Nature Genetics, 40 (2). pp. 232-236. ISSN 10614036

O'Driscoll, Mark, Dobyns, William B, van Hagen, Johanna M and Jeggo, Penny A (2007) Cellular and clinical impact of haploinsufficiency for genes involved in ATR-signaling. American Journal of Human Genetics, 81 (1). pp. 77-86. ISSN 0002-9297

O'Driscoll, Mark, Dobyns, William B, van Hagen, Johanna M and Jeggo, Penny A (2007) Cellular and clinical impact of Haploinsufficiency for genes involved in ATR signaling. American Journal of Human Genetics, 81 (1). pp. 77-86. ISSN 0002-9297

Griffith, E., Walker, S., Martin, C.A., Vagnarelli, P., Stiff, T., Vernay, B., Al Sanna, A., Saggar, A., Hamel, B., Earnshaw, W.C., Jeggo, P.A., Jackson, A.P. and O'Driscoll, M. (2007) Mutations in pericentrin cause Seckel syndrome with defective ATR-dependent DNA damage signaling. Nature Genetics, 40 (2). pp. 232-236. ISSN 1546-1718 (Electronic)

Stiff, Thomas, Walker, Sarah, Cerosaletti, Karen, Goodarzi, Aaron, Petermann, Mylene Pamela, Concannon, Pat, O'Driscoll, Mark and Jeggo, Penny (2006) ATR-dependent phosphorylation and activation of ATM in response to UV treatment or replication fork stalling. EMBO Journal, 25 (24). pp. 5775-5782. ISSN 0261-4189

Alderton, Gemma K, Galbiati, Laura, Griffith, Elen, Surinya, Kathatrina H, Neitzel, Heidemarie, Jackson, Andrew P, Jeggo, Penny A and O'Driscoll, Mark (2006) Regulation of mitotic entry by microcephalin and its overlap with ATR signalling. Nature Cell Biology, 8 (7). pp. 725-733. ISSN 1465-7392

O'Driscoll, Mark and Jeggo, Penny (2006) The role of DSB repair-insights from human genetics. Nature Reviews Genetics, 7 (1). pp. 45-54. ISSN 1471-0056

O'Driscoll, M., Jackson, A. P. and Jeggo, P. A. (2006) Microcephalin: A Causal Link Between Impaired Damage Response Signalling and Microcephaly. Cell Cycle, 5 (20). pp. 2339-2344. ISSN 1551-4005

O'Driscoll, Mark, Jackson, Andrew and Jeggo, Penny (2006) Microcephalin: A Causal Link Between Impaired Damage Response Signalling and Microcephaly. Cell Cycle, 5(20). pp. 2339-2344. ISSN 1551-4005

Alderton, G. K., Galbiati, L., Griffith, E., Surinya, K. H., Neitzel, H., Jackson, A. P., Jeggo, P. A. and O'Driscoll, M. (2006) Regulation of mitotic entry by microcephalin and its overlap with ATR signalling. Nature Cell Biology. pp. 725-733. ISSN 1465-7392

O'Driscoll, M. and Jeggo, P. A. (2006) The role of double-strand break repair - insights from human genetics. Nature Reviews Genetics, 7 (1). pp. 45-54. ISSN 1471-0056

O'Driscoll, Mark and Jeggo, Penny A (2006) The role of double-strand break repair - insights from human genetics. Nature Reviews Genetics, 7(1). pp. 45-54. ISSN 1471-0056

Stiff, Thomas, Reis, Caroline, Alderton, Gemma K, Woodbine, Lisa, O'Driscoll, Mark and Jeggo, Penny A (2005) Nbs1 is required for ATR-dependent phosphorylation events. EMBO Journal, 24 (1). pp. 199-208. ISSN 0261-4189

Gennery, A.R, Slatter, M.A., Bhattacharya, A, Barge, D, Haigh, S, O'Driscoll, Mark, Coleman, R, Abinun, M, Flood, T.J, Cant, A.J and Jeggo, Penny (2004) The clinical and biological overlap between Nijmegen Breakage syndrome and Fanconi Anemia. Clinical Immunology, 113 (2). pp. 214-219. ISSN 1521-6616

O'Driscoll, Mark, Gennery, AR, Seidel, J, Concammon, P and Jeggo, Penny (2004) An Overview of three new disorders associated with genetic instability: LIG4 syndrome, RS-SCID and ATR-Seckel syndrome. DNA Repair, 3 (8-9). pp. 1227-1235. ISSN 15687864

Kobayashi, K, O'Driscoll, Mark, Macpherson, P, Mullenders, L, Vreeswijk, M and Karran, P (2004) XPC lymphoblastoid cells defective in hMutS¿ DNA mismatch repair complex exhibit normal sensitivity to UVC radiation and normal transcription-coupled excision repair of DNA cyclobutane pyrimidine dimers. DNA Repair, 3 (6). pp. 649-657. ISSN 15687864

Stiff, Thomas, O'Driscoll, Mark, Rief, N, Iwabuchi, K, Lobrich, M and Jeggo, Penny (2004) ATM and DNA-PK function redundantly to phosphorylate H2AX after exposure to ionizing radiation. Cancer Research, 64 (7). pp. 2390-2396. ISSN 00085472

O'Driscoll, Mark (2004) Roles of DNA-PK, ATM and ATR in damage induced H2AX phosphorylation. Cancer Research, 67 (7). pp. 2390-2396.

Stiff, T., O'Driscoll, M., Rief, N., Iwabuchi, K., Lobrich, M. and Jeggo, P. A. (2004) ATM and DNA-PK function redundantly to phosphorylate H2AX following exposure to ioninsing radiation. Cancer Research, 64. pp. 2390-2396. ISSN 0008-5472

Stiff, Tom, O'Driscoll, Mark, Rief, Nicole, Iwabuchi, Kuniyoshi, Löbrich, Markus and Jeggo, Penny A (2004) ATM and DNA-PK function redundantly to phosphorylate H2AX following exposure to ioninsing radiation. Cancer Research, 64(7). pp. 2390-2396. ISSN 0008-5472

Alderton, G. K., Joenje, H., Varon, R., Borglum, A. D., Jeggo, P. A. and O'Driscoll, M. (2004) Seckel syndrome exhibits cellular features demonstrating defects in the ATR signalling pathway. Human Molecular Genetics, 13. pp. 3127-3138. ISSN 1460-2083

Alderton, Gemma K, Joenje, Hans, Varon, Raymonda, Børglum, Anders D, Jeggo, Penny A and O'Driscoll, Mark (2004) Seckel syndrome exhibits cellular features demonstrating defects in the ATR signalling pathway. Human Molecular Genetics, 13(24). pp. 3127-3138. ISSN 0964-6906

Gennery, A.R., Slatter, M.A., Bhattacharya, A., Barge, D., Haigh, S., O'Driscoll, M., Coleman, R., Abinun, M., Flood, T.J., Cant, A.J. and Jeggo, P.A. (2004) The clinical and biological overlap between nijmegen breakage syndrome and fanconi anaemia. Clinical Immunology, 113. pp. 214-219. ISSN 1521-6616

Gennery, A R, Slatter, M A, Bhattacharya, A, Barge, D, Haigh, S, O'Driscoll, M, Coleman, R, Abinun, M, Flood, T J, Cant, A J and Jeggo, P A (2004) The clinical and biological overlap between nijmegen breakage syndrome and fanconi anaemia. Clinical Immunology, 113(2). pp. 214-219. ISSN 1521-6616

O'Driscoll, M., Gennery, A. R., Seidel, J, Concannon, P. and Jeggo, P. A. (2004) An overview of three disorders associated with genetic instability: LIG4 syndrom, RS-SCID and ATR-Seckel syndrome. DNA Repair, 3. pp. 1227-1235. ISSN 1568-7864

O'Driscoll, M, Gennery, A R, Seidel, J, Concannon, P and Jeggo, P A (2004) An overview of three disorders associated with genetic instability: LIG4 syndrom, RS-SCID and ATR-Seckel syndrome. DNA Repair, 3(8-9). pp. 1227-1235. ISSN 1568-7864

O'Driscoll, Mark and Jeggo, Penny A (2003) Clinical impact of ATR checkpoint signalling failure in humans. Cell Cycle, 2 (3). pp. 194-195.

O'Driscoll, Mark, Ruiz-Perez, Victor L, Woods, C Geoffrey, Jeggo, Penny A and Goodship, Judith A (2003) A splicing mutation affecting expression of ataxia-telangiectasia and Rad3-related protein (ATR) results in Seckel syndrome. Nature Genetics, 33. pp. 497-501. ISSN 1061-4036

Gennery, A R and O'Driscoll, M (2003) Unravelling the web of DNA repair disorders. Clinical and Experimental Immunology, 134 (3). pp. 385-387. ISSN 0009-9104

O'Driscoll, M. and Jeggo, P. A. (2003) Clinical Impact of ATR Checkpoint Signalling Failure in Humans. Cell Cycle, 2 (3). 194-195.. ISSN 1551-4005

O'Driscoll, M., Ruiz-Perez, V. L., Woods, C. G., Jeggo, P. A. and Goodship, J. A. (2003) A splicing mutation affecting expression of ataxia-telangiectasia and Rad3-related protein (ATR) results in Seckel syndrome. Nature Genetics, 33. pp. 497-501. ISSN 1061-4036

O'Driscoll, M, Ruiz-Peres, V L, Woods, C G, Jeggo, P A and Goodship, J A (2003) A splicing mutation affecting expression of ataxia-telangiectasis and Rad3-related protein (ATR) results in Seckel syndrome. Nature Genetics, 33. pp. 497-501.

Roddam, P, Rollinson, S, O'Driscoll, M, Jeggo, P, Jack, A and Morgan, G (2002) Genetic variants of NHEJ DNA ligase IV can affect the risk of developing multiple myeloma, a tumour characterised by aberrant class switch recombination. Journal of Medical Genetics, 39 (12). pp. 900-905.

O'Driscoll, Mark and Jeggo, Penny (2002) Immunological disorders and DNA Repair. Mutation Research - Fundamental and Molecular Mechanisms of Mutagenesis, 509(1-. pp. 109-126. ISSN 0027-5107

Roddam, P. L., Rollinson, S., O'Driscoll, M., Jeggo, P. A., Jack, A. and Morgan, G. J. (2002) Genetic variants of NHEJ DNA ligase IV can affect the risk of developing multiple myeloma, a tumour characterised by aberrant class-switch recombination. Journal of Medical Genetics, 39. pp. 900-905. ISSN 1468-6244

O'Driscoll, M. and Jeggo, P. (2002) Immunological disorders and DNA Repair. Mutation Research - Fundamental and Molecular Mechanisms of Mutagenesis, 509 ((1-2)). pp. 109-126. ISSN 0027-5107

O'Driscoll, M., Cerosaletti, K. M., Girard, P-M., Dai, Y., Stumm, M., Kysela, B., Hirsch, B., Gennery, A., Palmer, S.E., Seidel, J., Gatti, R. A., Varon, R., Oettinger, M. A., Sperling, K., Jeggo, P. A. and Concannon, P. (2001) DNA Ligase IV mutations identified in patients exhibiting development delay and immunodeficiency. Molecular Cell, 8 (6). pp. 1175-1185. ISSN 1097-2765

O'Driscoll, Mark, Cerosaletti, Karen M, Girard, Pierre-M, Dai, Yan, Stumm, Markus, Kysela, Boris, Hirsch, Betsy, Gennery, Andrew, Palmer, Susan E, Seidel, Jörg, Gatti, Richard A, Varon, Raymonda, Oettinger, Marjorie A, Neitzel, Heidemarie, Jeggo, Penny A and Concannon, Patrick (2001) DNA ligase IV mutations identified in patients exhibiting developmental delay and immunodeficiency. Molecular Cell, 8 (6). pp. 1175-1185. ISSN 1097-2765

O'Driscoll, Mark, Cerosaletti, Karen M, Girard, Pierre-M, Dai, Yan, Stumm, Markus, Kysela, Boris, Hirsch, Betsy, Gennery, Andrew, Palmer, Susan E, Seidel, Jörg, Gatti, Richard A, Varon, Raymonda, Oettinger, Marjorie A, Neitzel, Heidemarie, Jeggo, Penny A and Concannon, Patrick (2001) DNA Ligase IV mutations identified in patients exhibiting development delay and immunodeficiency. Molecular Cell, 8. pp. 1175-1185.

Bignami, M, O'Driscoll, M, Aquilina, G and Karran, P (2000) Unmasking a killer: DNA O(6)-methylguanine and the cytotoxicity of methylating agents. Mutation Research - Fundamental and Molecular Mechanisms of Mutagenesis, 462 (2-3). pp. 71-82. ISSN 0027-5107

O'Driscoll, M, Macpherson, P, Xu, Y Z and Karran, P (1999) The cytotoxicity of DNA carboxymethylation and methylation by the model carboxymethylating agent azaserine in human cells. Carcinogenesis, 20 (9). pp. 1855-1862. ISSN 0143-3334

O'Driscoll, M, Martinelli, S, Ciotta, C and Karran, P (1999) Combined mismatch and nucleotide excision repair defects in a human cell line: mismatch repair processes methylation but not UV- or ionizing radiation-induced DNA damage. Carcinogenesis, 20 (5). pp. 799-804. ISSN 0143-3334

Book Section

O'Driscoll, Mark (2016) Seckel syndrome. In: Erickson, Robert and Wynshaw-Boris, Anthony (eds.) Epstein's Inborn Errors of Development. The Molecular Basis of Clinical Disorders of Morphogenesis. Oxford University Press, Oxford. ISBN 9780199934522

Lehmann, Alan R and O'Driscoll, Mark (2010) DNA repair: Disorders. In: Encyclopedia of Lifesciences. John Wiley & Sons, Ltd, Chichester. ISBN 9780470015902

O'Driscoll, Mark and Jeggo, Penny (2009) Introduction to the DNA repair and methylation defects. In: Primary Immunodeficiency Diseases. A Molecular and Genetic Approach. Oxford University Press.

This list was generated on Sun Sep 24 11:33:28 2017 BST.