Kazazian Haig H, Moran John V
From the McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins School of Medicine, Baltimore (H.H.K.), and the Departments of Human Genetics and Internal Medicine, University of Michigan Medical School, Ann Arbor (J.V.M.).
N Engl J Med. 2017 Jul 27;377(4):361-370. doi: 10.1056/NEJMra1510092.