About the Authors

Simon Edvardson

Affiliation Monique and Jacques Roboh Department of Genetic Research, Hadassah, Hebrew University Medical Center, Jerusalem, Israel

Yuval Cinnamon

Affiliation Monique and Jacques Roboh Department of Genetic Research, Hadassah, Hebrew University Medical Center, Jerusalem, Israel

Asaf Ta-Shma

Affiliation Monique and Jacques Roboh Department of Genetic Research, Hadassah, Hebrew University Medical Center, Jerusalem, Israel

Avraham Shaag

Affiliation Monique and Jacques Roboh Department of Genetic Research, Hadassah, Hebrew University Medical Center, Jerusalem, Israel

Yang-In Yim

Affiliation Laboratory of Cell Biology, National Heart, Lung, and Blood Institute, National Institutes of Health, Bethesda, Maryland, United States of America

Shamir Zenvirt

Affiliation Monique and Jacques Roboh Department of Genetic Research, Hadassah, Hebrew University Medical Center, Jerusalem, Israel

Chaim Jalas

Affiliation Bonei Olam, Center for Rare Jewish Genetic Disorders, Brooklyn, New York, United States of America

Suzanne Lesage

Affiliation CRICM, University Pierre et Marie Curie, INSERM, UMR_S975, CNRS UMR 7225, Hospital Pitié-Salpêtrière, Paris, France

Alexis Brice

Affiliation CRICM, University Pierre et Marie Curie, INSERM, UMR_S975, CNRS UMR 7225, Hospital Pitié-Salpêtrière, Paris, France

Albert Taraboulos

Affiliation IMRIC, The Hebrew University-Hadassah Medical School, Jerusalem, Israel

Klaus H. Kaestner

Affiliation Department of Genetics, Institute for Diabetes, Obesity and Metabolism, University of Pennsylvania School of Medicine, Philadelphia, Pennsylvania, United States of America

Lois E. Greene

Affiliation Laboratory of Cell Biology, National Heart, Lung, and Blood Institute, National Institutes of Health, Bethesda, Maryland, United States of America

Orly Elpeleg

Elpeleg@hadassah.org.il

Affiliation Monique and Jacques Roboh Department of Genetic Research, Hadassah, Hebrew University Medical Center, Jerusalem, Israel

Competing Interests

The authors have declared that no competing interests exist.

Author Contributions

Conceived and designed the experiments: SE YC AS SL AB AT KHK LEG OE. Performed the experiments: YC ATS AS YIY SZ AT. Analyzed the data: SE YC ATS AS YIY SZ CJ AB AT KHK LEG OE. Contributed reagents/materials/analysis tools: CJ SL KHK LEG. Wrote the paper: SE YC AT KHK LEG OE. Managed patients, collected samples and delineated the phenotype: SE.