copy number variants in extended autism spectrum disorder families reveal candidates potentially involved in autism risk拷贝数变异在扩展自闭症谱系障碍家庭揭示候选人在自闭症可能涉及的风险.pdfVIP

Copy Number Variants in Extended Autism Spectrum Disorder Families Reveal Candidates Potentially Involved in Autism Risk 1. 1. 1 1,2 1 Daria Salyakina , Holly N. Cukier , Joycelyn M. Lee , Stephanie Sacharow , Laura D. Nations , 1,2 1 1 1 3 Deqiong Ma , James M. Jaworski , Ioanna Konidari , Patrice L. Whitehead , Harry H. Wright , Ruth K. 3 4 5 4 1,2 Abramson , Scott M. Williams , Ramkumar Menon , Jonathan L. Haines , John R. Gilbert , Michael L. Cuccaro1,2, Margaret A. Pericak-Vance1,2* 1John P. Hussman Institute for Human Genomics, Miller School of Medicine, University of Miami, Miami, Florida, United States of America, 2 Dr. John T. Macdonald Foundation Department of Human Genetics, Miller School of Medicine, University of Miami, Miami, Florida, United States of America, 3 Department of Neuropsychiatry, University of South Carolina School of Medicine, Columbia, South Carolina, United States of America, 4 Center for Human Genetics Research, Vanderbilt University, Nashville, Tennessee, United States of America, 5 Department of Epidemiology and Department of Obstetrics and Gynecology, Rollins School of Public Health, Emory University, Atlanta, Georgia, United States of America Abstract Copy number variations (CNVs) are a major cause of genetic disruption in the human genome with far more nucleotides being altered by duplications and deletions than by single nucleotide p