All Stories

  1. FARS2 mutations presenting with pure spastic paraplegia and lesions of the dentate nuclei

    Article • Annals of Clinical and Translational Neurology, August 2018, Wiley

    Dr John M Graham, Jr, Michael Ibba

  2. A case of severe TBCE -negative hypoparathyroidism-retardation-dysmorphism syndrome: Case report and literature review

    Article • American Journal of Medical Genetics Part A, July 2018, Wiley

    Dr John M Graham, Jr

  3. KCNK9imprinting syndrome-further delineation of a possible treatable disorder

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

    Dr John M Graham, Jr

  4. 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

  5. Clinical delineation and natural history of the PIK3CA ‐related overgrowth spectrum

    Article • American Journal of Medical Genetics Part A, April 2014, Wiley

    Dr John M Graham, Jr