Angelman syndrome 2005: Updated consensus for diagnostic criteriaCharles A. Williams, Joseph Wagstaff, Arthur L. Beaudet et al.|American Journal of Medical Genetics Part A|2006Cited by 645
Further Delineation of Deletion 1p36 Syndrome in 60 Patients: A Recognizable Phenotype and Common Cause of Developmental Delay and Mental RetardationAgatino Battaglia, John C. Carey, Sameer M. Zuberi et al.|PEDIATRICS|2008Cited by 310
Prader-Willi and Angelman syndromes: Sister imprinted disordersSuzanne B. Cassidy, Charles A. Williams, Elisabeth M. Dykens|American Journal of Medical Genetics|2000Cited by 288
Recurrent Infections, Hypotonia, and Mental Retardation Caused by Duplication of <i>MECP2</i> and Adjacent Region in Xq28Michael J. Friez, Roger E. Stevenson, Julie R. Jones et al.|PEDIATRICS|2006Cited by 190
Overlapping spectra of <i>SMAD4</i> mutations in juvenile polyposis (JP) and JP–HHT syndromeCarol J. Gallione, Douglas A. Marchuk, Arthur S. Aylsworth et al.|American Journal of Medical Genetics Part A|2010Cited by 147