All Stories

  1. Warsaw breakage syndrome: Further clinical and genetic delineation

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

    David Chitayat, Ebba Alkhunaizi

  2. “A change in perspective”: Exploring the experiences of adolescents with hereditary tumor predisposition

    Article • Pediatric Blood & Cancer, September 2018, Wiley

    David Chitayat

  3. An Additional Individual with a De Novo Variant in Myelin Regulatory Factor (MYRF) with Cardiac and Urogenital Anomalies: Further Proof of Causality: Comments on the article by Pinz et al. ()

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

    David Chitayat

  4. De novo pathogenic variant in TUBB2A presenting with arthrogryposis multiplex congenita, brain abnormalities, and severe developmental delay

    Article • American Journal of Medical Genetics Part A, August 2017, Wiley

    David Chitayat

  5. Agenesis of the corpus callosum, developmental delay, autism spectrum disorder, facial dysmorphism, and posterior polymorphous corneal dystrophy associated with ZEB1 gene deletion

    Article • American Journal of Medical Genetics Part A, July 2017, Wiley

    David Chitayat

  6. Maternal uniparental disomy for chromosome 6 in a patient with IUGR, ambiguous genitalia, and persistent mullerian structures

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

    David Chitayat

  7. Alagille syndrome: clinical perspectives

    Article • The Application of Clinical Genetics, June 2016, Dove Medical Press

    David Chitayat

  8. The evolving features of Nicolaides–Baraitser syndrome – a clinical report of a 20‐year follow‐up

    Article • Clinical Case Reports, February 2016, Wiley

    David Chitayat

  9. Williams syndrome presenting with findings consistent with Alagille syndrome

    Article • Clinical Case Reports, November 2014, Wiley

    David Chitayat

  10. XY sex reversal, pontocerebellar hypoplasia and intellectual disability: Confirmation of a new syndrome

    Article • American Journal of Medical Genetics Part A, May 2013, Wiley

    David Chitayat