All Stories

  1. Update on theACTG1-associated Baraitser-Winter cerebrofrontofacial syndrome

    Article • American Journal of Medical Genetics Part A, May 2016, Wiley

    Dr Samantha A Schrier Vergano

  2. Aortic coarctation and carotid artery aneurysm in a patient with hardikar syndrome: Cardiovascular implications for affected individuals

    Article • American Journal of Medical Genetics Part A, October 2015, Wiley

    Dr Samantha A Schrier Vergano

  3. Beyond Ohdo syndrome: A familial missense mutation broadens theMED12spectrum

    Article • American Journal of Medical Genetics Part A, September 2015, Wiley

    Dr Samantha A Schrier Vergano

  4. Polymicrogyria in a 10-month-old boy with Mowat-Wilson syndrome

    Article • American Journal of Medical Genetics Part A, May 2015, Wiley

    Dr Samantha A Schrier Vergano

  5. Clinical management of patients withASXL1mutations and Bohring-Opitz syndrome, emphasizing the need for Wilms tumor surveillance

    Article • American Journal of Medical Genetics Part A, April 2015, Wiley

    Dr John M Graham, Jr, Dr Samantha A Schrier Vergano

  6. A 7-month-old male with Allan-Herndon-Dudley syndrome and the power of T3

    Article • American Journal of Medical Genetics Part A, March 2015, Wiley

    Dr Samantha A Schrier Vergano

  7. Mosaic trisomy 15 in a liveborn infant

    Article • American Journal of Medical Genetics Part A, March 2015, Wiley

    Dr Samantha A Schrier Vergano

  8. Military Health Care Dilemmas and Genetic Discrimination: A Family’s Experience with Whole Exome Sequencing

    Article • Narrative Inquiry in Bioethics, January 2015, Project Muse

    Dr Samantha A Schrier Vergano

  9. Clinical features, diagnostic criteria, and management of Coffin-Siris syndrome

    Article • American Journal of Medical Genetics Part C Seminars in Medical Genetics, August 2014, Wiley

    Dr Samantha A Schrier Vergano

  10. In vivo metabolic flux profiling with stable isotopes discriminates sites and quantifies effects of mitochondrial dysfunction in C. elegans

    Article • Molecular Genetics and Metabolism, March 2014, Elsevier

    Dr Samantha A Schrier Vergano

  11. Three Clinical Experiences with SNP Array Results Consistent with Parental Incest: A Narrative with Lessons Learned

    Article • Journal of Genetic Counseling, November 2013, Springer Science + Business Media

    Dr Samantha A Schrier Vergano

  12. Improving surveillance for hyperammonemia in the newborn

    Article • Molecular Genetics and Metabolism, September 2013, Elsevier

    Dr Samantha A Schrier Vergano

  13. Congenital heart disease in Cornelia de Lange syndrome: Phenotype and genotype analysis

    Article • American Journal of Medical Genetics Part A, September 2012, Wiley

    Dr Samantha A Schrier Vergano

  14. The Coffin-Siris syndrome: A proposed diagnostic approach and assessment of 15 overlapping cases

    Article • American Journal of Medical Genetics Part A, June 2012, Wiley

    Dr Samantha A Schrier Vergano

  15. Causes of death and autopsy findings in a large study cohort of individuals with Cornelia de Lange syndrome and review of the literature

    Article • American Journal of Medical Genetics Part A, November 2011, Wiley

    Dr Samantha A Schrier Vergano

  16. Mitochondrial disorders and the eye

    Article • Current Opinion in Ophthalmology, September 2011, Wolters Kluwer Health

    Dr Samantha A Schrier Vergano