About the Authors

Peter J. Taylor

Contributed equally to this work with: Peter J. Taylor, Grant A. Betts

Affiliations Molecular and Cytogenetics Unit, Department of Haematology and Genetics, Prince of Wales Hospital, Randwick, Sydney, New South Wales, Australia, Sydney Neuromuscular Centre, Sydney Children's Hospital, Randwick, Sydney, New South Wales, Australia

Grant A. Betts

Contributed equally to this work with: Peter J. Taylor, Grant A. Betts

Affiliation Sydney Neuromuscular Centre, Sydney Children's Hospital, Randwick, Sydney, New South Wales, Australia

Sarah Maroulis

Affiliation Molecular and Cytogenetics Unit, Department of Haematology and Genetics, Prince of Wales Hospital, Randwick, Sydney, New South Wales, Australia

Christian Gilissen

Affiliation Department of Human Genetics, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands

Robyn L. Pedersen

Affiliation Sydney Neuromuscular Centre, Sydney Children's Hospital, Randwick, Sydney, New South Wales, Australia

David R. Mowat

Affiliations Sydney Neuromuscular Centre, Sydney Children's Hospital, Randwick, Sydney, New South Wales, Australia, The School of Women's and Children's Health, University of New South Wales, Sydney, New South Wales, Australia

Heather M. Johnston

Affiliation Sydney Neuromuscular Centre, Sydney Children's Hospital, Randwick, Sydney, New South Wales, Australia

Michael F. Buckley

michael.buckley@sesiahs.health.nsw.gov.au

Affiliations Molecular and Cytogenetics Unit, Department of Haematology and Genetics, Prince of Wales Hospital, Randwick, Sydney, New South Wales, Australia, Department of Human Genetics, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands

Competing Interests

The authors have declared that no competing interests exist.

Author Contributions

Conceived and designed the experiments: PJT GAB MFB. Performed the experiments: PJT GAB SM. Analyzed the data: PJT GAB CG MFB. Contributed reagents/materials/analysis tools: RLP DRM HMJ. Wrote the paper: PJT GAB CG MFB.