M
Mark O'Driscoll
Researcher at University of Sussex
Publications - 74
Citations - 7909
Mark O'Driscoll is an academic researcher from University of Sussex. The author has contributed to research in topics: DNA repair & DNA damage. The author has an hindex of 39, co-authored 72 publications receiving 7385 citations. Previous affiliations of Mark O'Driscoll include University of Cambridge & University of Ottawa.
Papers
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Book ChapterDOI
DNA Mismatch Repair
TL;DR: Certain aspects of mismatch repair in Escherichia coli and Streptococcus pneumoniae provide similar and contrasting parallels with the human system, and some of the possible inferences from the properties of the prokaryotic systems are discussed.
Journal ArticleDOI
Variant ATRX syndrome with dysfunction of ATRX and MAGT1 genes
Ying Qiao,Kajari Mondal,Valentina Trapani,Jiadi Wen,Gillian Carpenter,Robert S. Wildin,E. Magda Price,Richard J. Gibbons,Jennifer Eichmeyer,Ruby Jiang,Barbara Dupont,Sally Martell,Suzanne M E Lewis,Wendy P. Robinson,Mark O'Driscoll,Federica I. Wolf,Michael E. Zwick,Evica Rajcan-Separovic +17 more
TL;DR: This work supports observations that multiple mutations collectively contribute to the phenotypic variability of syndromic ID, and emphasizes the importance of correlating clinical phenotype with genomic and cell function analyses.
Reference EntryDOI
Causes and Consequences of Structural Genomic Alterations in the Human Genome
Lesley Hart,Mark O'Driscoll +1 more
TL;DR: The mechanisms underlying complex structural chromosomal rearrangements are reviewed and their implications with respect to genome-wide stability are discussed.
Journal ArticleDOI
Identification and Characterization of a Novel Constitutional PIK3CA Mutation in a Child Lacking the Typical Segmental Overgrowth of "PIK3CA-Related Overgrowth Spectrum"
Nataliya Di Donato,Nataliya Di Donato,Andreas Rump,Ghayda M. Mirzaa,Ghayda M. Mirzaa,Diana Alcantara,Antony W. Oliver,Evelin Schröck,William B. Dobyns,William B. Dobyns,Mark O'Driscoll +10 more
TL;DR: These findings expand upon the recently proposed “PIK3CA‐related overgrowth spectrum” associated with PIKC3A mutations and PI3K hyperactivation, adding constitutional PIK3CA mutations as an underlying cause of megalencephaly and macrosomia in newborns.
Journal ArticleDOI
Neuropathology of fetal stage Seckel syndrome: a case report providing a morphological correlate for the emerging molecular mechanisms.
TL;DR: The striking neuropathological finding in this case was evidence of failure of the developing brain's germinal elements, providing rare morphological insight into the abnormal development of the Seckel syndrome fetal brain.