ScottEwingHickeyMD

PubMed

• 15 citations
  Points to consider in the detection of germline structural variants using next-generation sequencing: A statement of the American College of Medical Genetics and Genom...
  Gordana Raca, Caroline Astbury, Andrea Behlmann, Mauricio J De Castro, Scott E Hickey
  Genetics in Medicine. 2023-02-01
• 1 citations
  Missense MED12 variants in 22 males with intellectual disability: From nonspecific symptoms to complete syndromes.
  Nuno Maia, Nekane Ibarluzea, Mala Misra-Isrie, Daniel C Koboldt, Isabel Marques
  American Journal of Medical Genetics. Part A. 2023-01-01
• 6 citations
  Discovering a new part of the phenotypic spectrum of Coffin-Siris syndrome in a fetal cohort.
  Pleuntje J van der Sluijs, Marieke Joosten, Caroline Alby, Tania Attié-Bitach, Kelly Gilmore
  Genetics in Medicine. 2022-08-01

Journal Articles

• Clinical Exome Sequencing Reveals Locus Heterogeneity and Phenotypic Variability of Cohesinopathies  
  Scott E Hickey, Leah Slattery, James R Lupski, Margaret P Adam, Olivia Wenger, Davut Pehlivan, Laura Martin, Farida Abid, Dorothy Grange, Jennifer E Posey, Alison A Be..., Nature
• Yield of Additional Genetic Testing After Chromosomal Microarray for Diagnosis of Neurodevelopmental Disability and Congenital Anomalies: A Clinical Practice Resource ...  
  Scott E Hickey, Darrel Waggoner, David T Miller, Karen E Wain, Cynthia C Morton, Nature