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The Journal of Pediatrics|July 15, 2009
DiGeorge anomaly in the absence of chromosome 22q11.2 deletionAlan F Rope, Deborah L Cragun, Howard M Saal, et al.Molecular Syndromology|September 9, 2020
Seizures and Cardiomyopathy in a Patient with Pallister-Killian Syndrome due to Hexasomy 12p MosaicismReha M Toydemir, Emanuele Panza, Maria C Longhurst, et al.American Journal of Medical Genetics. Part A|September 17, 2004
Dilated ascending aorta in a child with ring chromosome 21 syndromeAlan F Rope, Robert B Hinton, Robert L Spicer, et al.The Journal of Pediatrics|March 10, 2005
Genetic analyses in two extended families with deletion 22q11 syndrome: importance of extracardiac manifestationsKerry A Shooner, Alan F Rope, Robert J Hopkin, et al.American Journal of Medical Genetics. Part A|October 16, 2010
A novel X-linked multiple congenital anomaly syndrome associated with an EBP mutationLarissa V Furtado, Pinar Bayrak-Toydemir, Becki Hulinsky, et al.American Journal of Medical Genetics. Part A|July 3, 2003
Upper airway malformation associated with partial trisomy 11qHui-quan Zhao, Alan F Rope, Howard M Saal, et al.BMC Medical Genetics|September 23, 2011
Characterization of large genomic deletions in the FBN1 gene using multiplex ligation-dependent probe amplificationLarissa V Furtado, Whitney Wooderchak-Donahue, Alan F Rope, et al.American Journal of Medical Genetics. Part A|August 16, 2014
Neural tube defects and atypical deletion on 22q11.2Chiara Leoni, David A Stevenson, Katherine B Geiersbach, et al.Otolaryngology--Head and Neck Surgery : Official Journal of American Academy of Otolaryngology-Head and Neck Surgery|April 22, 2004
Association of anterior glottic webs with velocardiofacial syndrome (chromosome 22q11.2 deletion)R Christopher Miyamoto, Robin T Cotton, Alan F Rope, et al.Journal of Genetic Counseling|August 15, 2014
Clinical utility of chromosomal microarray analysis of DNA from buccal cells: detection of mosaicism in three patientsMallory R Sdano, Rena J Vanzo, Megan M Martin, et al.Pageof 4