Mark O'Driscoll

Diseases associated with defective responses to DNA damage.

M. O’Driscoll, Mark O'Driscoll, 2012, Cold Spring Harbor perspectives in biology.

The role of double-strand break repair — insights from human genetics

Penny A. Jeggo, P. Jeggo, M. O’Driscoll, 2006, Nature Reviews Genetics.

Mutations in ORC1, encoding the largest subunit of the origin recognition complex, cause microcephalic primordial dwarfism resembling Meier-Gorlin syndrome

Penny A Jeggo, Claudia Kerzendorfer, P. Jeggo, 2011, Nature Genetics.

Germline mutation in ATR in autosomal- dominant oropharyngeal cancer syndrome.

Yuhki Yanase, Michihiro Hide, Sheila A Fisher, 2012, American journal of human genetics.

A splicing mutation affecting expression of ataxia–telangiectasia and Rad3–related protein (ATR) results in Seckel syndrome

Judith A. Goodship, Penny A. Jeggo, C. Geoffrey Woods, 2003, Nature Genetics.

Mutations in pericentrin cause Seckel syndrome with defective ATR-dependent DNA damage signaling

William C Earnshaw, Bertrand Vernay, Penny A Jeggo, 2008, Nature Genetics.

Mutations in PIK3R1 cause SHORT syndrome.

Sahar Mansour, Kym M Boycott, Dennis E Bulman, 2013, American journal of human genetics.

ATR promotes cilia signalling: links to developmental impacts

Penny A. Jeggo, P. Jeggo, M. Philipp, 2016, Human molecular genetics.