Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen)

著者: Erin Rooney Riggs, Erica Andersen, Athena M. Cherry, Sibel Kantarci, Hutton M. Kearney, Ankita Patel, Gordana Raca, Deborah Ritter, Sarah T. South, Erik C. Thorland, Daniel Pineda‐Alvarez, Swaroop Aradhya, Christa Lese Martin - Genetics in Medicine 2019 被引用: 1,766