SCRIB and PUF60 Are Primary Drivers of the Multisystemic Phenotypes of the 8q24.3 Copy-Number Variant |
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| Authors: | Andrew Dauber,Christelle Golzio,Cé cile Guenot,Francine M. Jodelka,Maria Kibaek,Susanne Kjaergaard,Bruno Leheup,Danielle Martinet,Malgorzata J.M. Nowaczyk,Jill A. Rosenfeld,Susan Zeesman,Janice Zunich,Jacques S. Beckmann,Joel N. Hirschhorn,Michelle L. Hastings,Sebastien Jacquemont,Nicholas Katsanis |
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| Affiliation: | 1 Division of Endocrinology, Boston Children’s Hospital, Boston, MA 02115, USA;2 Program in Medical and Population Genetics, Broad Institute, Cambridge, MA 02115, USA;3 Center for Human Disease Modeling, Duke University, Durham, NC 27710, USA;4 Service of Medical Genetics and Department of Clinical Genetics, University of Lausanne CHUV, 1011 Lausanne, Switzerland;5 Department of Cell Biology and Anatomy, The Chicago Medical School, Rosalind Franklin University of Medicine and Science, North Chicago, IL 60064, USA;6 Department of Pediatrics, Odense University Hospital, Odense 5230, Denmark;7 Department of Clinical Genetics, University Hospital of Copenhagen, Copenhagen 2100, Denmark;8 Department of Clinical Genetics, CHU de Nancy and Medical School Université de Lorraine, 54511 Vandoeuvre les Nancy, France;9 Departments of Pathology, Molecular Medicine, and Pediatrics, McMaster University, Hamilton, ON L8N 3Z5, Canada;10 Signature Genomic Laboratories, PerkinElmer, Inc., Spokane, WA 99207, USA;11 Genetics Center, Indiana University School of Medicine-Northwest, Gary, IN 46408, USA;12 Department of Genetics, Harvard Medical School, Boston, MA 02115, USA |
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