
Wendy Jewell Introne MD
Clinical Biochemical Genetics, Clinical Genetics
Physician
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10 Center DrBuilding 10 Crc, Room 3-2541Bethesda, MD 20892
Phone+1 301-451-8879
Fax+1 301-496-7157
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Education & Training
- National Institutes of Health Clinical CenterResidency, Medical Genetics and Genomics, 1998 - 2001
- Children's National HospitalResidency, Pediatrics, 1995 - 1998
- University of New Mexico School of MedicineClass of 1995
Certifications & Licensure
- DC State Medical License 1996 - 2027
- American Board of Medical Genetics and Genomics Clinical Biochemical Genetics
- American Board of Pediatrics Pediatrics
- American Board of Medical Genetics and Genomics Clinical Genetics and Genomics
Awards, Honors, & Recognition
- Fellow (FAAP) American Academy of Pediatrics
Clinical Trials
- Study of Alkaptonuria Start of enrollment: 2000 Jun 21
- Study of Chediak-Higashi Syndrome Start of enrollment: 2002 Sep 10
Publications & Presentations
PubMed
- Choline and CCL22 Are Prognostic Blood Biomarkers for Hermansky-Pudlak Syndrome Pulmonary Fibrosis.Muhammad Arif, Abhishek Basu, Ben Long G Zuo, Mei Xing G Zuo, Kevin J O'Brien
American Journal of Respiratory Cell and Molecular Biology. 2025-07-28 - A murine model lacking Lyst recapitulates Chediak-Higashi syndrome with an earlier-onset neurodegenerative phenotype.Sunny Greene, Mackenzie L Talbert, F Graeme Frost, Patricia M Zerfas, Danielle Springer
Communications Biology. 2025-07-18 - Deep Learning Study of Alkaptonuria Spinal Disease Assesses Global and Regional Severity and Detects Occult Treatment Status.Kendall A Flaharty, Vibha Chandrasekar, Irene J Castillo, Dat Duong, Carlos R Ferreira
Journal of Inherited Metabolic Disease. 2025-05-01
Journal Articles
- Severe Bleeding with Subclinical Oculocutaneous Albinism in a Patient with a Novel HPS6 Missense VariantWilliam A Gahl, Dong Chen, Koyamangalath Krishnan, Wendy J Introne, American Journal of Medical Genetics Part A
Press Mentions
- Cycle Pharmaceuticals’ HARLIKU™ (Nitisinone) Tablets Receive First FDA-Approval as Treatment for Alkaptonuria (AKU)June 19th, 2025
Professional Memberships
- Fellow
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