About the Authors

Margot E. Bowen

Contributed equally to this work with: Margot E. Bowen, Eric D. Boyden

Affiliations Department of Orthopaedic Surgery, Children's Hospital Boston and Harvard Medical School, Boston, Massachusetts, United States of America, Howard Hughes Medical Institute, Boston, Massachusetts, United States of America, Department of Genetics, Harvard Medical School, Boston, Massachusetts, United States of America

Eric D. Boyden

Contributed equally to this work with: Margot E. Bowen, Eric D. Boyden

Affiliations Department of Orthopaedic Surgery, Children's Hospital Boston and Harvard Medical School, Boston, Massachusetts, United States of America, Howard Hughes Medical Institute, Boston, Massachusetts, United States of America, Department of Genetics, Harvard Medical School, Boston, Massachusetts, United States of America

Ingrid A. Holm

Affiliations Division of Genetics, Program in Genomics, and The Manton Center for Orphan Disease Research, Children's Hospital Boston, Boston, Massachusetts, United States of America, Department of Pediatrics, Harvard Medical School, Boston, Massachusetts, United States of America

Belinda Campos-Xavier

Affiliation Division of Molecular Pediatrics, Centre Hospitalier Universitaire Vaudois, Lausanne, Switzerland

Luisa Bonafé

Affiliation Division of Molecular Pediatrics, Centre Hospitalier Universitaire Vaudois, Lausanne, Switzerland

Andrea Superti-Furga

Affiliation Division of Molecular Pediatrics, Centre Hospitalier Universitaire Vaudois, Lausanne, Switzerland

Shiro Ikegawa

Affiliation Laboratory for Bone and Joint Diseases, Center for Genomic Medicine, RIKEN, Tokyo, Japan

Valerie Cormier-Daire

Affiliation Department of Medical Genetics, Paris Descartes University, INSERM U781, Hôpital Necker Enfants Malades, Paris, France

Judith V. Bovée

Affiliation Department of Pathology, Leiden University Medical Centre, Leiden, The Netherlands

Twinkal C. Pansuriya

Affiliation Department of Pathology, Leiden University Medical Centre, Leiden, The Netherlands

Sérgio B. de Sousa

Affiliation Department of Medical Genetics, Hospital Pediátrico de Coimbra, Coimbra, Portugal

Ravi Savarirayan

Affiliations Victorian Clinical Genetics Services, Murdoch Childrens Research Institute, Melbourne, Australia, Department of Pediatrics, University of Melbourne, Melbourne, Australia

Elena Andreucci

Affiliations Victorian Clinical Genetics Services, Murdoch Childrens Research Institute, Melbourne, Australia, Department of Pediatrics, University of Melbourne, Melbourne, Australia, Department of Clinical Pathophysiology, University of Florence and Meyer Children's Hospital Genetics Unit, Florence, Italy

Miikka Vikkula

Affiliation de Duve Institute, Université Catholique de Louvain, Brussels, Belgium

Livia Garavelli

Affiliation Department of Clinical Genetics, Arcispedale S. Maria Nuova, Reggio Emilia, Italy

Caroline Pottinger

Affiliation Merseyside and Chesire Regional Genetics Service, Alder Hey Hospital, Liverpool, United Kingdom

Toshihiko Ogino

Affiliation Department of Orthopaedic Surgery, Yamagata University Faculty of Medicine, Yamagata, Japan

Akinori Sakai

Affiliation Department of Orthopaedic Surgery, University of Occupational and Environmental Health, Kitakyushu, Japan

Bianca M. Regazzoni

Affiliation Department of Pediatrics, S. Anna Hospital, Lugano, Switzerland

Wim Wuyts

Affiliation Department of Medical Genetics, University of Antwerp, Antwerp, Belgium

Luca Sangiorgi

Affiliation Department of Medical Genetics, Rizzoli Orthopaedic Institute, Bologna, Italy

Elena Pedrini

Affiliation Department of Medical Genetics, Rizzoli Orthopaedic Institute, Bologna, Italy

Mei Zhu

Affiliations Howard Hughes Medical Institute, Boston, Massachusetts, United States of America, Department of Genetics, Harvard Medical School, Boston, Massachusetts, United States of America

Harry P. Kozakewich

Affiliation Department of Pathology, Children's Hospital Boston and Harvard Medical School, Boston, Massachusetts, United States of America

James R. Kasser

Affiliation Department of Orthopaedic Surgery, Children's Hospital Boston and Harvard Medical School, Boston, Massachusetts, United States of America

Jon G. Seidman

Affiliations Howard Hughes Medical Institute, Boston, Massachusetts, United States of America, Department of Genetics, Harvard Medical School, Boston, Massachusetts, United States of America

Kyle C. Kurek

kyle.kurek@childrens.harvard.edu

Affiliations Department of Orthopaedic Surgery, Children's Hospital Boston and Harvard Medical School, Boston, Massachusetts, United States of America, Department of Pathology, Children's Hospital Boston and Harvard Medical School, Boston, Massachusetts, United States of America

Matthew L. Warman

Affiliations Department of Orthopaedic Surgery, Children's Hospital Boston and Harvard Medical School, Boston, Massachusetts, United States of America, Howard Hughes Medical Institute, Boston, Massachusetts, United States of America, Department of Genetics, Harvard Medical School, Boston, Massachusetts, United States of America

Competing Interests

The authors have declared that no competing interests exist.

Author Contributions

Conceived and designed the experiments: MEB EDB MZ JGS KCK MLW. Performed the experiments: MEB EDB KCK. Analyzed the data: MEB EDB HPK JGS KCK MLW. Contributed reagents/materials/analysis tools: IAH BC-X LB AS-F SI VC-D JVB TCP SBdS RS EA MV LG CP TO AS BMR WW LS EP MZ HPK JRK JGS. Wrote the paper: MEB EDB KCK MLW.