About the Authors

Per Qvist

Contributed equally to this work with: Per Qvist, Pablo Huertas

Affiliation Department of Human Genetics and Department of Biomedicine, Aarhus University, Aarhus, Denmark

Pablo Huertas

Contributed equally to this work with: Per Qvist, Pablo Huertas

s.jackson@gurdon.cam.ac.uk (SPJ); anders@humgen.au.dk (ADB); pablo.huertas@cabimer.es (PH)

Affiliations The Gurdon Institute and Department of Biochemistry, University of Cambridge, Cambridge, United Kingdom, Centro Andaluz de Biología Molecular y Medicina Regenerativa (CABIMER) and Departamento de Genética, Universidad de Sevilla, Sevilla, Spain

Sonia Jimeno

Affiliation Centro Andaluz de Biología Molecular y Medicina Regenerativa (CABIMER) and Departamento de Genética, Universidad de Sevilla, Sevilla, Spain

Mette Nyegaard

Affiliation Department of Human Genetics and Department of Biomedicine, Aarhus University, Aarhus, Denmark

Muhammad J. Hassan

Current address: Department, of Biochemistry, Shifa College of Medicine, Islamabad, Pakistan

Affiliation Department of Biochemistry, Faculty of Biological Sciences, Quaid i Azam University, Islamabad, Pakistan

Stephen P. Jackson

s.jackson@gurdon.cam.ac.uk (SPJ); anders@humgen.au.dk (ADB); pablo.huertas@cabimer.es (PH)

Affiliation The Gurdon Institute and Department of Biochemistry, University of Cambridge, Cambridge, United Kingdom

Anders D. Børglum

s.jackson@gurdon.cam.ac.uk (SPJ); anders@humgen.au.dk (ADB); pablo.huertas@cabimer.es (PH)

Affiliation Department of Human Genetics and Department of Biomedicine, Aarhus University, Aarhus, Denmark

Competing Interests

The authors have declared that no competing interests exist.

Author Contributions

Designed and directed the study, interpreted the results, and wrote the paper: ADB SPJ PQ PH. Identified the CtIP mutation: ADB. Characterized the CtIP mutation: ADB PQ MN. Provided DNA samples from the Jawad family: MJH. Identified the mutation within the Jawad locus: ADB PQ MN. Performed and conceived all additional experiments: PQ PH SJ SPJ. Co-senior-PIs: ADB SPJ.