Mark O’Driscoll - Concepedia

Author

Mark O’Driscoll

Also Known As

Diana Alcantara, M O'DRISCOLL, M O'Driscoll, M O'driscoll, M. O'Driscoll, M. O’Driscoll, Marc O'Driscoll, Mark O'Driscoll, Mark O’Driscoll, O'Driscoll M,

Publications

8.2K

Citations

H-Index

Concepts

All Affiliations

University of Sussex University of Washington Seattle Children's Hospital University of British Columbia Children's Hospital of Eastern Ontario

About

Mark O’Driscoll is an author at University of Sussex specializing in medicine, genetics, and cell biology.

Top Concepts

#	Concept	H-Index	Publications	Citations
1	Medicine	25	30	5K
2	Natural Sciences	8	8	1.7K
3	Health Sciences	1	1	110
4	Public Health	1	1	10
5	Social Sciences	1	1	47

Mark O’Driscoll

Publications

6.3K

Citations

H-Index

Page 1

	Year	Citations
ATM and DNA-PK Function Redundantly to Phosphorylate H2AX after Exposure to Ionizing Radiation Tom Stiff, Mark O’Driscoll, Nicole Rief, Cancer Research Checkpoint ResponseDna DamageDna-pk Function RedundantlyRadiation EffectRadiation Exposure	2004	988
A splicing mutation affecting expression of ataxia–telangiectasia and Rad3–related protein (ATR) results in Seckel syndrome Mark O’Driscoll, Víctor L. Ruiz‐Pérez, C. Geoffrey Woods, Nature Genetics Rare DiseasesGenetic DisorderMedicineGeneticsSeckel Syndrome	2003	774
De novo germline and postzygotic mutations in AKT3, PIK3R2 and PIK3CA cause a spectrum of related megalencephaly syndromes Jean-Baptiste Rivière, Ghayda Mirzaa, Brian J. O’Roak, Nature Genetics Mendelian DisorderGenetic DisorderMedicineGeneticsPathogenesis	2012	737
DNA Ligase IV Mutations Identified in Patients Exhibiting Developmental Delay and Immunodeficiency Mark O’Driscoll, Karen Cerosaletti, Pierre-M Girard, Molecular Cell Primary ImmunodeficiencyGenome InstabilityGenetic DisorderMedicineGenetics	2001	535
ATR‐dependent phosphorylation and activation of ATM in response to UV treatment or replication fork stalling Thomas Stiff, Sarah Walker, Karen Cerosaletti, The EMBO Journal	2006	351
Mutations in pericentrin cause Seckel syndrome with defective ATR-dependent DNA damage signaling Elen Griffith, Sarah Walker, Carol-Anne Martin, Nature Genetics Genome InstabilityMolecular PhysiologyGenetic DisorderGeneticsMolecular Biology	2007	301
Mutations in ORC1, encoding the largest subunit of the origin recognition complex, cause microcephalic primordial dwarfism resembling Meier-Gorlin syndrome Louise S. Bicknell, Sarah Walker, Anna Klingseisen, Nature Genetics Origin Recognition ComplexMeier-gorlin SyndromeDevelopmental BiologySomatic VariantGenetic Disorder	2011	208
Mutations in PIK3R1 Cause SHORT Syndrome David A. Dyment, Amanda Smith, Diana Alcantara, The American Journal of Human Genetics	2013	191
Seckel syndrome exhibits cellular features demonstrating defects in the ATR-signalling pathway Gemma Alderton, Hans Joenje, Raymonda Varon, Human Molecular Genetics GeneticsCytoskeletonCell CycleEpigeneticsCellular Physiology	2004	174
Nbs1 is required for ATR‐dependent phosphorylation events Tom Stiff, Caroline Reis, Gemma Alderton, The EMBO Journal	2004	166

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