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Office
315 East Broadway 4th floor
Louisville, KY 40202Phone+1 502-629-4363- Is this information wrong?
Education & Training
Detroit Medical Center/Wayne State UniversityFellowship, Pediatrics/Medical Genetics and Genomics, 2008 - 2009
University of Alabama Medical CenterResidency, Medical Genetics and Genomics, 2006 - 2008
University of Louisville School of MedicineResidency, Pediatrics, 2002 - 2005- University of Louisville School of MedicineClass of 2002
Certifications & Licensure
KY State Medical License 2005 - 2025
MI State Medical License 2008 - 2009
AL State Medical License Active through 2008- American Board of Medical Genetics and Genomics Medical Biochemical Genetics
- American Board of Pediatrics Pediatrics
- American Board of Medical Genetics and Genomics Clinical Genetics and Genomics
Clinical Trials
- An Open-Label Phase 3 Study of BMN 165 for Adults With PKU Not Previously Treated w/ BMN 165 Start of enrollment: 2013 May 01
Publications & Presentations
PubMed
- 12 citations221 newborn-screened neonates with medium-chain acyl-coenzyme A dehydrogenase deficiency: Findings from the Inborn Errors of Metabolism Collaborative.Kristi Bentler, Shaohui Zhai, Sara A. Elsbecker, Georgianne L. Arnold, Barbara K. Burton, Jerry Vockley, Cynthia A. Cameron, Sally J. Hiner, Mathew J. Edick, Susan A. ...> ;Molecular Genetics and Metabolism. 2016 Sep 1
- 3 citationsA new syndrome with Stargardt macular degeneration, abnormalities of the corpus callosum, mental retardation, and dysmorphic features: a case report of two siblings.Maria Descartes, Stuart A. Royal, Judith Franklin, Kara Goodin, Melissa Mancuso, Fady M. Mikhail, Lynn Holt> ;Clinical Dysmorphology. 2009 Jul 1
- 9 citationsFamilial transmission of oculoauriculovertebral spectrum (Goldenhar syndrome) is not due to mutations in either EYA1 or SALL1.Kara Goodin, Sandra Prucka, Audie L. Woolley, Juergen Kohlhase, Richard J.H. Smith, John H. Grant, Nathaniel H. Robin> ;American Journal of Medical Genetics. Part A. 2009 Mar 1
Professional Memberships
- American College of Medical Genetics and GenomicsFellow
- Society for Inherited Metabolic DisordersMember
- Fellow
- Kentucky Medical AssociationMember
Hospital Affiliations
Norton HospitalLouisville, Kentucky
Norton Womens and Childrens HospitalLouisville, Kentucky
UofL Health - UofL HospitalLouisville, Kentucky
Norton Children's HospitalLouisville, Kentucky
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