Output details

Mutations in PNKP cause microcephaly, seizures and defects in DNA repair

(a) I made a substantial contribution to the conception and design of the study, andto the organisation of the conduct of the study; and to carrying out the study (including acquisition of study data); and to analysis and interpretation of study data. In particular, I conducted the experiments and provided the data measuring PNKP levels in cell extracts from the patients, and contributed to the measurements of repair capacity.

and

(b) I helped draft the output; or critique the output for important intellectual content. In particular, I drafted the parts of the manuscript relating to PNKP function in repair, and helped edit the overall manuscript.