WendyJewellIntroneMD

PubMed

• 21 citations
  Prolonged treatment with open-label pirfenidone in Hermansky-Pudlak syndrome pulmonary fibrosis.
  Kevin J. O'Brien, Wendy J. Introne, Orhan Akal, Tulay Akal, Adrian Barbu
  Molecular Genetics and Metabolism. 2018-09-01
• 29 citations
  Cysteinyl-tRNA Synthetase Mutations Cause a Multi-System, Recessive Disease That Includes Microcephaly, Developmental Delay, and Brittle Hair and Nails
  Molly E. Kuo, Arjan F. Theil, Anneke Kievit, May Christine V. Malicdan, Wendy J. Introne
  American Journal of Human Genetics. 2019-03-07
• 18 citations
  Twenty-four-hour motor activity and body temperature patterns suggest altered central circadian timekeeping in Smith-Magenis syndrome, a neurodevelopmental disorder.
  Ann C.M. Smith, Rebecca S. Morse, Wendy J. Introne, Wallace C. Duncan
  American Journal of Medical Genetics. Part A. 2019-02-01

Journal Articles

• Severe Bleeding with Subclinical Oculocutaneous Albinism in a Patient with a Novel HPS6 Missense Variant  
  William A Gahl, Dong Chen, Koyamangalath Krishnan, Wendy J Introne, American Journal of Medical Genetics Part A

Lectures

• Novel Hermanksky-Pudlak Syndrome Type 6 Missense Variant Associated with Subclinical Oculocutaneous Albinism and Mild BleedingClinically Relevant Abstract 
  2018 ASH Annual Meeting - San Diego, CA - 12/1/2018