Author
Robert J Desnick, MD, PhD Dean for Genetic and Genomic Medicine, Professor and Chair Emeritus, Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai
Robert J Desnick, MD, PhD is a member of the following medical societies: American College of Medical Genetics and Genomics, American Pediatric Society, American Society for Biochemistry and Molecular Biology, American Society for Clinical Investigation, American Society for Microbiology, American Society of Human Genetics, Central Society for Clinical and Translational Research, Eastern Society for Pediatric Research, New York Academy of Sciences, Sigma Xi, Society for Experimental Biology and Medicine, Society for Pediatric Research
Disclosure: Received consulting fee from Amicus Therapeutics for consulting; Received consulting fee from Genzyme for consulting; Received grant/research funds from Genzyme for consulting; Received royalty from Genzyme for none; Received scientific advisory board from Genzyme for none; Received consulting fee from Synageva BioPharma for none; Received stock options from Synageva BioPharma for none; Received royalty from Shire HGT for none.
Coauthor(s)
Maryam Banikazemi, MD Assistant Professor of Clinical Pediatrics, New York Medical College
Maryam Banikazemi, MD is a member of the following medical societies: American Academy of Pediatrics, American Society of Human Genetics
Disclosure: Nothing to disclose.
Kenneth H Astrin, PhD Associate Professor of Human Genetics, Department of Human Genetics, Mount Sinai School of Medicine
Kenneth H Astrin, PhD is a member of the following medical societies: American Society of Human Genetics
Disclosure: Nothing to disclose.
Specialty Editor Board
Mary L Windle, PharmD Adjunct Associate Professor, University of Nebraska Medical Center College of Pharmacy; Editor-in-Chief, Medscape Drug Reference
Disclosure: Nothing to disclose.
Chief Editor
Maria Descartes, MD Professor, Department of Human Genetics and Department of Pediatrics, University of Alabama at Birmingham School of Medicine
Maria Descartes, MD is a member of the following medical societies: American Academy of Pediatrics, American College of Medical Genetics and Genomics, American Medical Association, American Society of Human Genetics, Society for Inherited Metabolic Disorders, International Skeletal Dysplasia Society, Southeastern Regional Genetics Group
Disclosure: Nothing to disclose.
Additional Contributors
Robert D Steiner, MD Clinical Professor, University of Wisconsin School of Medicine and Public Health; Editor-in-Chief, Genetics in Medicine; Chief Medical Officer, PreventionGenetics
Robert D Steiner, MD is a member of the following medical societies: American Academy of Pediatrics, American Association for the Advancement of Science, American College of Medical Genetics and Genomics, American Society of Human Genetics, Society for Inherited Metabolic Disorders, Society for Pediatric Research, Society for the Study of Inborn Errors of Metabolism
Disclosure: Serve(d) as a director, officer, partner, employee, advisor, consultant or trustee for: American College of Medical Genetics, Acer Therapeutics; Raptor, Retrophin; Censa Pharma; Biomarin; PreventionGenetics, Best Doctors, Health Advances, Precision for Health, E-scape Bio<br/>Serve(d) as a speaker or a member of a speakers bureau for: France Foundation, Medscape<br/>Received research grant from: Alexion<br/>Received income in an amount equal to or greater than $250 from: Acer Therapeutics; Retrophin; Raptor Pharma; Censa Pharma; Biomarin; Prevention Genetics, E-Scape Bio, Best Doctors, Health Advances, Precision for Value, France Foundation, Medscape<br/>Travel Support for: Pfizer.
David Flannery, MD, FAAP, FACMG Vice Chair of Education, Chief, Section of Medical Genetics, Professor, Department of Pediatrics, Medical College of Georgia
David Flannery, MD, FAAP, FACMG is a member of the following medical societies: American Academy of Pediatrics, American College of Medical Genetics and Genomics
Disclosure: Nothing to disclose.
