AmyR. U. L.CalhounMD

PubMed

• Otospondylomegaepiphyseal Dysplasia: A Case Report of Clinical and Radiographic Findings.
  Benjamin R. Williams, Amy R.U.L. Calhoun, Kenneth J Holton, Brandon J. Kelly, Jonathan N. Sembrano> ;Journal of Bone and Joint Surgery, American Volume. 2020 Oct 16
• Risk of hepatic neoplasms in Wolf-Hirschhorn syndrome (4p-): Four new cases and review of the literature
  Agatino Battaglia, Amy R.U.L. Calhoun, Amanda Lortz, John C. Carey> ;American Journal of Medical Genetics Part A. 2018 Nov 1
• 26 citations
  Natural history and genotype-phenotype correlations in 72 individuals with SATB2-associated syndrome.
  Yuri A. Zarate, Constance Smith-Hicks, Carol L. Greene, Mary Alice Abbott, Victoria Mok Siu, Amy R.U.L. Calhoun, Arti Pandya, Chumei Li, Elizabeth A. Sellars, Julie Ka...> ;American Journal of Medical Genetics Part A. 2018 Apr 1
• 7 citations
  Chitayat syndrome: hyperphalangism, characteristic facies, hallux valgus and bronchomalacia results from a recurrent c.266A>G p.(Tyr89Cys) variant in the ERF gene
  Meena Balasubramanian, Helen Lord, Sébastien Lévesque, Harendra Guturu, Fanny Thuriot, Guillaume Sillon, Aaron M. Wenger, Dimple Sureka, Tracy Lester, Diana Johnson, J...> ;Journal of Medical Genetics. 2017 Mar 1
• 9 citations
  The Splicing Efficiency of Activating HRAS Mutations Can Determine Costello Syndrome Phenotype and Frequency in Cancer
  Anne Mette Hartung, Jeff Swensen, Inaki E. Uriz, Morten Lapin, Karen Kristjansdottir, Ulrika Simone Spangsberg Petersen, Jeanne Mari V. Bang, Barbara Guerra, Henriette...> ;PLOS Genetics. 2016 May 19
• 19 citations
  Chromosomal microarray testing identifies a 4p terminal region associated with seizures in Wolf–Hirschhorn syndrome
  Karen S. Ho, Sarah T. South, Amanda Lortz, Charles H. Hensel, Mallory R. Sdano, Rena J. Vanzo, Megan M. Martin, Andreas Peiffer, Christophe G. Lambert, Amy R.U.L. Calh...> ;Journal of Medical Genetics. 2016 Apr 1
• 12 citations
  De novo truncating variants in the AHDC1 gene encoding the AT-hook DNA-binding motif-containing protein 1 are associated with intellectual disability and developmental...
  Hui Yang, Ganka Douglas, Kristin G. Monaghan, Kyle Retterer, Megan T. Cho, Luis F. Escobar, Megan Tucker, Joan M. Stoler, Lance H. Rodan, Diane Stein, Warren Marks, Gr...> ;Cold Spring Harbor molecular case studies. 2015 Oct 1
• 11 citations
  Next generation sequencing in endocrine practice
  Gregory P. Forlenza, Amy R.U.L. Calhoun, Kenny B Beckman, Tanya Halvorsen, Elwaseila Hamdoun, Heather Zierhut, Kyriakie Sarafoglou, Lynda E. Polgreen, Bradley S. Mille...> ;Molecular Genetics and Metabolism. 2015 Jun 1
• Biochemical abnormalities in Pearson syndrome.
  Crippa, B. L.,Leon, E.,Calhoun, A.,Lowichik, A.,Pasquali, M.,Longo, N.> ;Am. J. Med. Genet. A. 2015 Feb 19
• 1 citations
  Distal Xq28 microdeletions: clarification of the spectrum of contiguous gene deletions involving ABCD1, BCAP31, and SLC6A8 with a new case and review of the literature.
  Amy R.U.L. Calhoun, Gerald V. Raymond> ;American Journal of Medical Genetics Part A. 2014 Oct 1
• 1 citations
  Academia, advocacy, and industry: a collaborative method for clinical research advancement.
  Rena J. Vanzo, Amanda Lortz, Amy R.U.L. Calhoun, John C. Carey> ;American Journal of Medical Genetics Part A. 2014 Jul 1
• Phenotype of a patient with contiguous deletion of TBX5 and TBX3: Expanding the disease spectrum.
  Bogarapu, S.,Bleyl, S. B.,Calhoun, A.,Viskochil, D.,Saarel, E. V.,Everitt, M. D.,Frank, D. U.> ;Am. J. Med. Genet. A. 2014 Mar 26
• 11 citations
  Spinal arteriovenous fistulas in children with hereditary hemorrhagic telangiectasia
  Amy R.U.L. Calhoun, Robert J. Bollo, Sarah T. Garber, Jamie McDonald, David A. Stevenson, Irene H. Hung, Douglas L. Brockmeyer, Marion L. Walker> ;Journal of Neurosurgery. 2012 Jun 1
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