Haploinsufficiency of DNA Damage Response Genes and their Potential Influence in Human Genomic Disorders

le O’Driscoll, Mark
Foilsithe 2008

Diseases Associated with Defective Responses to DNA Damage

le O’Driscoll, Mark
Foilsithe 2012

INK4a/ARF-dependent senescence upon persistent replication stress

le O’Driscoll, Mark
Foilsithe 2013

Replication independent ATR signalling leads to G2/M arrest requiring Nbs1, 53BP1 and MDC1

le Stiff, Tom, Cerosaletti, Karen, Concannon, Patrick, O'Driscoll, Mark, Jeggo, Penny A.
Foilsithe 2008

Cellular and Clinical Impact of Haploinsufficiency for Genes Involved in ATR Signaling

le O’Driscoll, Mark , Dobyns, William B. , van Hagen, Johanna M. , Jeggo, Penny A. 
Foilsithe 2007

LETM1 haploinsufficiency causes mitochondrial defects in cells from humans with Wolf-Hirschhorn syndrome: implications for dissecting the underlying pathomechanisms in this conditi...

le Hart, Lesley, Rauch, Anita, Carr, Antony M., Vermeesch, Joris R., O’Driscoll, Mark
Foilsithe 2014

ATR promotes cilia signalling: links to developmental impacts

le Stiff, Tom, Casar Tena, Teresa, O'Driscoll, Mark, Jeggo, Penny A., Philipp, Melanie
Foilsithe in Hum Mol Genet (2016)

Nbs1 is required for ATR-dependent phosphorylation events

le Stiff, Tom, Reis, Caroline, Alderton, Gemma K, Woodbine, Lisa, O'Driscoll, Mark, Jeggo, Penny A
Foilsithe 2005

Increased RPA1 Gene Dosage Affects Genomic Stability Potentially Contributing to 17p13.3 Duplication Syndrome

le Outwin, Emily, Carpenter, Gillian, Bi, Weimin, Withers, Marjorie A., Lupski, James R., O'Driscoll, Mark
Foilsithe 2011

Regulation of DNA damage responses and cell cycle progression by hMOB2

le Gomez, Valenti, Gundogdu, Ramazan, Gomez, Marta, Hoa, Lily, Panchal, Neelam, O’Driscoll, Mark, Hergovich, Alexander
Foilsithe in Cell Signal (2014)

A Ku80 fragment with dominant negative activity imparts a radiosensitive phenotype to CHO-K1 cells

le Marangoni, Elisabetta, Foray, Nicolas, O’Driscoll, Mark, Douc-Rasy, Sétha, Bernier, Jacques, Bourhis, Jean, Jeggo, Penny
Foilsithe 2000

ATR-dependent phosphorylation and activation of ATM in response to UV treatment or replication fork stalling

le Stiff, Thomas, Walker, Sarah A, Cerosaletti, Karen, Goodarzi, Aaron A, Petermann, Eva, Concannon, Pat, O'Driscoll, Mark, Jeggo, Penny A
Foilsithe 2006

Identification and characterisation of a novel constitutional PIK3CA mutation in a child lacking the typical segmental overgrowth of “PIK3CA-Related Overgrowth Spectrum” (PROS)

le Di Donato, Nataliya, Rump, Andreas, Mirzaa, Ghayda M., Alcantara, Diana, Oliver, Antony, Schrock, Evelin, Dobyns, William B., O’Driscoll, Mark
Foilsithe in Hum Mutat (2015)

Deficiency in Origin Licensing Proteins Impairs Cilia Formation: Implications for the Aetiology of Meier-Gorlin Syndrome

le Stiff, Tom, Alagoz, Meryem, Alcantara, Diana, Outwin, Emily, Brunner, Han G., Bongers, Ernie M. H. F., O'Driscoll, Mark, Jeggo, Penny A.
Foilsithe 2013

Mutations in Cullin 4B result in a human syndrome associated with increased camptothecin-induced topoisomerase I-dependent DNA breaks

le Kerzendorfer, Claudia, Whibley, Annabel, Carpenter, Gillian, Outwin, Emily, Chiang, Shih-Chieh, Turner, Gillian, Schwartz, Charles, El-Khamisy, Sherif, Raymond, F. Lucy, O'Driscoll, Mark
Foilsithe 2010

Mutations in CENPE define a novel kinetochore-centromeric mechanism for Microcephalic Primordial Dwarfism

le Mirzaa, Ghayda M., Vitre, Benjamin, Carpenter, Gillian, Abramowicz, Iga, Gleeson, Joseph G., Paciorkowski, Alex R., Cleveland, Don W., Dobyns, William B., O’Driscoll, Mark
Foilsithe in Hum Genet (2014)

Mutations in Pericentrin cause Seckel syndrome with defective ATR-dependent DNA damage signalling

le 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., O'Driscoll, Mark
Foilsithe 2007

Germline Mutation in ATR in Autosomal- Dominant Oropharyngeal Cancer Syndrome

le 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, McGrath, John A.
Foilsithe 2012

Hypomorphism in human NSMCE2 linked to primordial dwarfism and insulin resistance

le 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, Semple, Robert
Foilsithe 2014

Genetic Defects in Human Pericentrin Are Associated With Severe Insulin Resistance and Diabetes

le Huang-Doran, Isabel, Bicknell, Louise S., Finucane, Francis M., Rocha, Nuno, Porter, Keith M., Tung, Y.C. Loraine, Szekeres, Ferenc, Krook, Anna, Nolan, John J., O’Driscoll, Mark, Bober, Michael, O’Rahilly, Stephen, Jackson, Andrew P., Semple, Robert K.
Foilsithe 2011