Authors: Irini Manoli; Gretchen Golas; Wendy Westbroek; Thierry Vilboux; Thomas C Markello; Wendy Introne; Dawn Maynard; Ben Pederson; Ekaterini Tsilou; Michael B Jordan; P Suzanne Hart; James G White; William A Gahl; Marjan Huizing Journal: Am J Med Genet A Date: 2010-06 Impact factor: 2.802