McDonell LM, Mirzaa GM, Alcantara D, Schwartzentruber J, Carter MT, Lee LJ, Clericuzio CL, Graham JM Jr, Morris-Rosendahl DJ, Polster T, Acsadi G, Townshend S, Williams S, Halbert A, Isidor B, David A, Smyser CD, Paciorkowski AR, Willing M, Woulfe J, Das S, Beaulieu CL, Marcadier J; FORGE Canada Consortium, Geraghty MT, Frey BJ, Majewski J, Bulman DE, Dobyns WB, O'Driscoll M, Boycott KM.
Nat Genet. 2013 Mar 31. doi: 10.1038/ng.2602. [Epub ahead of print]
Mutations in STAMBP, encoding a deubiquitinating enzyme, cause microcephaly-capillary malformation syndrome.
Stiff T, Alagoz M, Alcantara D, Outwin E, Brunner HG, Bongers EM, O'Driscoll M, Jeggo PA.
PLoS Genetics. 2013 Mar;9(3):e1003360.
Deficiency in origin licensing proteins impairs cilia formation: implications for the aetiology of Meier-Gorlin syndrome.
O’Driscoll M.
Cold Spring Harb Perspect Biol. 2012 Dec 1;4(12). doi:pii: a012773.
Diseases associated with defective responses to DNA damage.
Ogi T, Walker S, Stiff T, Hobson E, Limsirichaikul S, Carpenter G, Prescott K, Suri M, Byrd PJ, Matsuse M, Mitsutake N, Nakazawa Y, Vasudevan P, Barrow M, Stewart GS, Taylor AMR, O’Driscoll M, Jeggo PA.
PLoS Genetics, 2012. Nov: 8(11):e1002945
Identification of the first ATRIP-Deficient patient and novel mutations in ATR define a clinical spectrum for ATR-STRIP Seckel syndrome.
Rivière JB, Mirzaa GM, O'Roak BJ, Beddaoui M, Alcantara D, Conway RL, St-Onge J, Schwartzentruber JA, Gripp KW, Nikkel SM, Worthylake T, Sullivan CT, Ward TR, Butler HE, Kramer NA, Albrecht B, Armour CM, Armstrong L, Caluseriu O, Cytrynbaum C, Drolet BA, Innes AM, Lauzon JL, Lin AE, Mancini GM, Meschino WS, Reggin JD, Saggar AK, Lerman-Sagie T, Uyanik G, Weksberg R, Zirn B, Beaulieu CL; Finding of Rare Disease Genes (FORGE) Canada Consortium, Majewski J, Bulman DE, O'Driscoll M, Shendure J, Graham JM Jr, Boycott KM, Dobyns WB.
Nature Genetics, 2012. Jun 24;44(8):934-40.
De novo germline and postzygotic mutations in AKT3, PIK3R2 and PIK3CA cause a spectrum of related megalencephaly syndromes.
Kerzendorfer C, Hannes F, Colnaghi R, Abramowicz I, Carpenter G, Vermeesch JR, O’Driscoll M
Hum Mol Genet 2012 May 15;21(10):2181-93.
Characterising the functional consequences of haploinsufficiency of NELF-A (WHSC2) and SLBP identifies novel cellular phenotypes in Wolf-Hirshhorn syndrome.
Tanaka A, Weinel S, Nagy N, O’Driscoll M, Lai-Cheong JE, Kulp-ShorteCL, Knable A, Carpenter G, Fisher SA, Hiragun M, Yanase Y, Hide M, Callen J, McGrath JA.
Am J Hum Genet. 2012 May 15;21(10):2181-93.
Germline mutation in ATR in autosomal dominant oropharyngeal cancer syndrome.
Fitzgerald B, O'Driscoll M, Chong K, Keating S, Shannon P.
Brain & Dev. 2012 Mar; 34(3):238-243
Neuropathology of fetal stage Seckel syndrome: A case report providing a morphological correlate for the emerging molecular mechanisms.
Harvard C, Strong E, Mercier E, Colnaghi R, Alcantara D, Chow E, Martell S, Tyson C, Hrynchak M, McGillivray B, Hamilton S, Marles S, Mhanni A, Dawson A, Pavlidis P, Qiao Y, Holden J, Lewis S, O’Driscoll M, Rajcan-Separovic, E.
Orphanet Journal of Rare Diseases. 2011 Aug 8; 6(54).
Understanding the impact of 1q21.1 Copy Number Variant.
Colnaghi R, Carpenter G, Volker M, O’Driscoll M.
Sem Cell & Dev Biol. 2011 Oct;22(8):875-85.
The consequences of structural genomic alterations in humans: genomic disorders, genomic instability & cancer.
Outwin E, Carpenter G, Bi W, Withers MA, Lupski JR, O’Driscoll M.
PLOS Genetics. 2011 Aug;7(8):e1002247.
Increased RPA1 gene dosage affects genomic stability potentially contributing to 17p13.3 duplication syndrome.
Bicknell LS, Walker S, Klingseisen A, Stiff T, Leitch A, Kerzendorfer C, Martin CA, Yeyati P, Al Sanna N, Bober M, Johnson D, Wise C, Jackson AP, O'Driscoll M, Jeggo PA.
Nat Genet. 2011 Feb 27;43(4):350-5.
Featured on the journal cover.
Raffan E, Hurst LA, Al Turki S, Carpenter G, Scott C, Daly A, Coffey A, Bhaskar S, Howard E, Khan N, Kingston H, Palotie A, Bousfield Savage D, O'Driscoll M, Smith, C O'Rahilly S, Barroso I, Semple RK.
Frontiers in Genomic Endocrinology. 2011 Mar; 2; Article 8: 1-8.
Early diagnosis of Werner’s syndrome using exome-wide sequencing in a single, atypical patient.
First article to be published in the inaugural issue of the journal.
Huang-Doran I, Bicknell LS, Finucane FM, Rocha N, Porter KM, Tung YC, Szekeres F, Krook A, Nolan JJ, O'Driscoll M, Bober M, O'Rahilly S, Jackson AP, Semple RK; for the Majewski Osteodysplastic Primordial Dwarfism Study Group.
Diabetes. 2011 Mar;60(3):925-935
Genetic Defects in Human Pericentrin Are Associated With Severe Insulin Resistance and Diabetes.
Kerzendorfer C, Hart L, Colnaghi R, Carpenter G, Alcantara D, Outwin E, Carr AM, O'Driscoll M.
Mech Ageing Dev. 2011 Aug;132(8-9):366-73.
Lehmann, AR & O’Driscoll M.
Encyclopedia of Lifesciences (John Wiley & Sons, Ltd) Oct 2010.
DNA repair: Disorders.
Kerzendorfer C, Whibley A, Carpenter G, Outwin E, Chiang SC, Turner G, Schwartz C, El-Khamisy S, Raymond FL, O'Driscoll M.
Hum Mol Genet 2010 Apr 1;19(7):1324-34.
O’Driscoll M.
DNA Repair 2009. Nov 2;8(11):1333-7.
Mouse models for ATR deficiency.
O’Driscoll M & Jeggo P.A.
Primary Immunodeficiency Diseases. A Molecular and Genetic Approach.
3rd Edition (Oxford University Press) 2009.
Introduction to the DNA repair and methylation defects.
Kerzendorfer C and O’Driscoll M.
DNA Repair 2009 Sept 2; 8(9): 1139-1152.
Human DNA damage response & repair deficiency syndromes: linking genomic instability and cell cycle checkpoint proficiency.
O’Driscoll M.
Nat Genet 2009 Aug;41(8):866-8.
Life can be stressful without ATR.
Kerzendorfer C and O’Driscoll M.
Journal of Investigative Dermatology 2009 Jul;129(7):1611-3.
UVB and Caffeine: Inhibiting the DNA damage response to protect against the adverse effects of UVB
O’Driscoll M.
Acta Med Nagasaki 2009 53;23-30.
Defects in the ATR-Dependent DNA Damage Response Pathway and Human Syndromes.
StiffT, CerosalettiK, Concannon P, O’DriscollM and Jeggo PA.
Human Molecular Genetics 2008 Oct 15;17(20):3247-53.
Replication independent ATR signalling leads to G2/M arrest requiring Nbs1, 53BP1 and MDC1.
O’Driscoll M and Jeggo P.A.
DNA Repair 2008 Jul 1;7(7):1039-50.
The role of the DNA damage response pathways in brain development and microcephaly: insight from human disorders.
O’Driscoll M.
DNA Repair 2008 Jun 1;7(6):997-1003.
Trex1 DNA exonuclease deficiency, accumulation of single stranded DNA and complex human genetic disorders.
O’Driscoll M and Jeggo P.A
Bone Marrow Transplantation 2008 Jun 1;41(11):983-989.
Cyclosporine A can induce DNA double strand breaks: implications for bone marrow transplantation regimens particularly for individuals with defective DNA repair.
O’Driscoll M.
Current Genomics 2008 May; 9(3):137-146.
Haploinsufficiency of DNA Damage response genes and their potential influence in human genomic disorders.
Griffith E, WalkerS, MartinCA, VagnarelliP, StiffT, VernayB, Al SannaN, SaggarA, HamelB, EarnshawWC, JeggoP.A, JacksonA.P, O’DriscollM.
Nat Genet Dec 2008 Feb;40(2):232-6.
Mutations in Pericentrin cause Seckel syndrome with defective ATR-dependent DNA damage signalling.
O’Driscoll M, Dobyns W.B, van Hagen J.M, Jeggo P.A
Am J Hum Genet 2007 July 81:77-86.
Cellular and clinical impact of haploinsufficiency for genes involved in ATR-signalling.
O’Driscoll M. Jeggo P.A.
Cell Cycle. 2006 Oct 5(20): 2339-2344.
Microcephalin: a causal link between impaired damage response signalling and microcephaly.
Stiff T, Walker S, Cerosaletti K, Goodarzi A, Concannon P, O'Driscoll M, Jeggo PA.
EMBO J. 2006 Dec 13;25(24):5775-82.
Alderton GK, Galbiati L, Griffith E, Surinya K, Jackson A, Nietzl H, Jeggo PA, O’Driscoll M.
Nat Cell Biol. 2006 Jul 8(7):725-33
Regulation of mitotic entry by microcephalin and its overlap with ATR signalling.
O’Driscoll M, Jeggo P.A.
Nat Rev Genet. 2006 Jan 7(1):45-54.
The role of DSB repair-insights from human genetics.
Stiff T, Reis C, Alderton GK, Woodbine L, O’Driscoll M, Jeggo PA.
EMBO J. 2005 Jan 24(1):199-208.
NBS1 is required for ATR-dependent phosphorylation events.
Alderton GK, Joenje H, Varon R, Borglum AD, Jeggo PA, O’Driscoll M.
Hum Mol Genet 2004 Dec 13(24):3127-3138.
Seckel syndrome exhibits cellular features demonstrating defects in the ATR signalling pathway.
Gennery AR, Slatter MA, Bhattacharya A, Barge D, Haigh S, O’Driscoll M, Coleman R, Abinun M, Flood TJ, Cant AJ, Jeggo PA.
Clin Immunol 2004 Nov. 113(2):214-219.
The clinical and biological overlap between Nijmegen Breakage syndrome and Fanconi Anemia.
O’Driscoll M, Gennery AR, Seidel J, Cocannon P, Jeggo PA.
DNA Repair. 2004 Aug-Sept. 3(8-9):1227-1235.
An Overview of three new disorders associated with genetic instability: LIG4 syndrome, RS-SCID and ATR-Seckel syndrome.
Kobayashi K, O’Driscoll M, Macpherson P, Mullenders L, Vreeswijk M, Karran P.
DNA Repair. 2004 Jun. 3(6):649-657.
XPC lymphoblastoid cells defective in hMutSa DNA mismatch repair complex exhibit normal sensitivity to UVC radiation and normal transcription-coupled excision repair of DNA cyclobutane pyrimidine dimers.
Stiff T, O’Driscoll M, Rief N, Iwabuchi K, Lobrich M and Jeggo PA.
Cancer Research. 2004 Apr. 64(7):2390-2396..
Roles of DNA-PK, ATM and ATR in damage induced H2AX phosphorylation.
Gennery AR, O’Driscoll M.
Clin Exp Immunol. 2003 Dec. 134(3):385-388.
Unravelling the web of DNA repair disorders.
O'Driscoll M, Jeggo PA.
Cell Cycle. 2003 May. 2(3):194-195.
Clinical impact of ATR checkpoint signalling failure in humans.
O'Driscoll M, Ruiz-Perez VL, Woods CG, Jeggo PA, Goodship JA.
Nat Genet. 2003 Apr. 33(4):497-501.
A splicing mutation affecting expression of ataxia-telangiectasia and Rad3-related protein (ATR) results in Seckel syndrome.
Roddam PL, Rollinson S, O'Driscoll M, Jeggo PA, Jack A, Morgan GJ.
J Med Genet. 2002 Dec. 39(12):900-905.
Genetic variants of NHEJ DNA ligase IV can affect the risk of developing multiple myeloma, a tumour characterised by aberrant class switch recombination.
O'Driscoll M, Jeggo P.
Mut Res. 2002 Nov. 509(1-2):109-26.
Immunological disorders and DNA repair.
O'Driscoll M, Cerosaletti KM, Girard PM, Dai Y, Stumm M, Kysela B, Hirsch B, Gennery A, Palmer SE, Seidel J, Gatti RA, Varon R, Oettinger MA, Neitzel H, Jeggo PA, Concannon P.
Mol Cell. 2001 Dec. 8(6):1175-1185.
DNA ligase IV mutations identified in patients exhibiting developmental delay and immunodeficiency.
Marangoni E, Foray N, O'Driscoll M, Douc-Rasy S, Bernier J, Bourhis J, Jeggo PA.
Nucleic Acids Res. 2000 Dec. 28(23):4778-4782.
A Ku80 fragment with dominant negative activity imparts a radiosensitive phenotype to CHO-K1 cells.
Bignami M, O'Driscoll M, Aquilina G, Karran P.
Mut Res. 2000 Apr. 462(2-3):71-82
Unmasking a killer: DNA O6-methylguanine and the cytotoxicity of methylating agents.
O'Driscoll M, Macpherson P, Xu YZ, Karran P.
Carcinogenesis. 1999 Sep. 20(9):1855-1862.
The cytotoxicity of DNA carboxymethylation and methylation by the model carboxymethylating agent azaserine in human cells.
O'Driscoll M, Martinelli S, Ciotta C, Karran P.
Carcinogenesis. 1999 May. 20(5):799-804.
Combined mismatch and nucleotide excision repair defects in a human cell line: mismatch repair processes methylation but not UV- or ionising radiation-induced DNA damage.
O'Driscoll M, Humbert O, Karran P.
Nucleic Acids and Molecular Biology, 1998. 12; 173-197.
DNA Mismatch Repair.
Dr Mark O'Driscoll
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. 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
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. 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. 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
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. 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.
Lehmann, Alan R and O'Driscoll, Mark (2010) DNA repair: Disorders. In: Encyclopedia of Lifesciences. John Wiley & Sons, Ltd, Chichester. ISBN 9780470015902
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 15687864
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, 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.
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, 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
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
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
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, 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
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, 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
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
O'Driscoll, Mark (2004) Roles of DNA-PK, ATM and ATR in damage induced H2AX phosphorylation. Cancer Research, 67 (7). pp. 2390-2396.
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
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
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
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
