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Office
404 N Keene St
Ste 101
Columbia, MO 65201Phone+1 573-882-6921Fax+1 573-884-4105
Education & Training
- McGaw Medical Center of Northwestern UniversityResidency, Pediatrics, 1981 - 1982
- McGaw Medical Center of Northwestern UniversityInternship, Transitional Year, 1977 - 1978
- The University of Toledo College of MedicineClass of 1977
Certifications & Licensure
- IL State Medical License 1978 - 2020
- MO State Medical License 2010 - 2020
- American Board of Medical Genetics and Genomics Clinical Cytogenetics
- American Board of Medical Genetics and Genomics Clinical Genetics
- American Board of Pediatrics Pediatrics
Publications & Presentations
PubMed
- 28 citationsLoss-of-Function Variants in PPP1R12A: From Isolated Sex Reversal to Holoprosencephaly Spectrum and Urogenital MalformationsJoel J. Hughes, Ebba Alkhunaizi, Paul Kruszka, Louise C. Pyle, Dorothy K. Grange
American Journal of Human Genetics. 2020-01-02 - 2 citationsA Successful Treatment of Endoscopic Third Ventriculostomy with Choroid Plexus Cauterization for Hydrocephalus in Walker-Warburg Syndrome.Tomoko Tanaka, Catharine J. Harris, Sarah S. Barnett, N. Scott Litofsky
Case Reports in Neurological Medicine. 2016-12-27 - 57 citationsCharacterisation of mutations of the phosphoinositide-3-kinase regulatory subunit, PIK3R2, in perisylvian polymicrogyria: a next-generation sequencing studyGhayda M. Mirzaa, Valerio Conti, Andrew E. Timms, Christopher D. Smyser, Sarah Ahmed
The Lancet. Neurology. 2015-12-01
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