About the Authors

Layla Parker-Katiraee

Affiliations Program in Genetics and Genomic Biology, The Hospital for Sick Children, Toronto, Ontario, Canada , The Centre for Applied Genomics, The Hospital for Sick Children, Toronto, Ontario, Canada , Department of Molecular and Medical Genetics, University of Toronto, Toronto, Ontario, Canada

Andrew R Carson

Affiliations Program in Genetics and Genomic Biology, The Hospital for Sick Children, Toronto, Ontario, Canada , The Centre for Applied Genomics, The Hospital for Sick Children, Toronto, Ontario, Canada , Department of Molecular and Medical Genetics, University of Toronto, Toronto, Ontario, Canada

Takahiro Yamada

Current address: Department of Obstetrics and Gynaecology, Hokkaido University Graduate School of Medicine, Sapporo, Japan

Affiliations Program in Genetics and Genomic Biology, The Hospital for Sick Children, Toronto, Ontario, Canada , The Centre for Applied Genomics, The Hospital for Sick Children, Toronto, Ontario, Canada

Philippe Arnaud

Affiliations Institute of Molecular Genetics (IGMM), CNRS UMR5535, Montpellier, France , University of Montpellier II, Montpellier, France

Robert Feil

Affiliations Institute of Molecular Genetics (IGMM), CNRS UMR5535, Montpellier, France , University of Montpellier II, Montpellier, France

Sayeda N Abu-Amero

Affiliation Institute of Child Health, University College London, London, United Kingdom

Gudrun E Moore

Affiliation Institute of Child Health, University College London, London, United Kingdom

Masahiro Kaneda

Current address: Wellcome Trust/Cancer Research UK Gurdon Institute of Cancer and Developmental Biology, University of Cambridge, Cambridge, United Kingdom

Affiliation Division of Human Genetics, Department of Integrated Genetics, National Institute of Genetics, Research Organization of Information and Systems, Mishima, Japan

George H Perry

Affiliation School of Human Evolution and Social Change, Arizona State University, Tempe, Arizona, United States of America

Anne C Stone

Affiliation School of Human Evolution and Social Change, Arizona State University, Tempe, Arizona, United States of America

Charles Lee

Affiliation Department of Pathology, Brigham and Women's Hospital, Boston, Massachusetts, United States of America

Makiko Meguro-Horike

Affiliations Program in Genetics and Genomic Biology, The Hospital for Sick Children, Toronto, Ontario, Canada , The Centre for Applied Genomics, The Hospital for Sick Children, Toronto, Ontario, Canada

Hiroyuki Sasaki

Affiliations Division of Human Genetics, Department of Integrated Genetics, National Institute of Genetics, Research Organization of Information and Systems, Mishima, Japan , Department of Genetics, School of Life Science, The Graduate University for Advanced Studies (Sokendai), Mishima, Japan

Keiko Kobayashi

Affiliation Department of Molecular Metabolism and Biochemical Genetics, Kagoshima University Graduate School of Medical and Dental Sciences, Kagoshima, Japan

Kazuhiko Nakabayashi

Current address: Department of Maternal-Fetal Biology, National Center for Child Health and Development, Setagaya, Tokyo, Japan

Affiliations Program in Genetics and Genomic Biology, The Hospital for Sick Children, Toronto, Ontario, Canada , The Centre for Applied Genomics, The Hospital for Sick Children, Toronto, Ontario, Canada , Division of Human Genetics, Department of Integrated Genetics, National Institute of Genetics, Research Organization of Information and Systems, Mishima, Japan

Stephen W Scherer

To whom correspondence should be addressed. E-mail: steve@genet.sickkids.on.ca

Affiliations Program in Genetics and Genomic Biology, The Hospital for Sick Children, Toronto, Ontario, Canada , The Centre for Applied Genomics, The Hospital for Sick Children, Toronto, Ontario, Canada , Department of Molecular and Medical Genetics, University of Toronto, Toronto, Ontario, Canada

Competing Interests

The authors have declared that no competing interests exist.

Author Contributions

LPK, ARC, TY, HS, KN, and SWS conceived and designed the experiments. LPK, TY, PA, SNAA, GHP, MMH, and KN performed the experiments. LPK, ARC, TY, PA, RF, GHP, KN, and SWS analyzed the data. LPK, TY, SNAA, GEM, MK, GHP, ACS, CL, HS, KK, and KN contributed reagents/materials/analysis tools. LPK, ARC, and RF wrote the paper.