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Office
3333 Burnet Ave
Ml 4006
Cincinnati, OH 45229Phone+1 513-636-4760Fax+1 513-636-7297
Education & Training
- Cincinnati Children's Hospital Medical CenterResidency, Medical Genetics and Genomics, 1993 - 1996
- Cincinnati Children's Hospital Medical CenterFellowship, Pediatric Endocrinology, 1982 - 1989
- Cincinnati Children's Hospital Medical CenterResidency, Pediatrics, 1979 - 1982
- Washington University in St. Louis School of MedicineClass of 1979
Certifications & Licensure
- OH State Medical License 1983 - 2026
- 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
Clinical Trials
Publications & Presentations
PubMed
- 2 citationsPathogenic variants in KMT2C result in a neurodevelopmental disorder distinct from Kleefstra and Kabuki syndromes.Dmitrijs Rots, Sanaa Choufani, Victor Faundes, Alexander J M Dingemans, Shelagh Joss
American Journal of Human Genetics. 2024-08-08 - 4 citationsA Qualitative Study: Mothers' Experiences of Their Child's Late-Onset Pompe Disease Diagnosis Following Newborn Screening.Kaylee Crossen, Lisa Berry, Melanie F Myers, Nancy Leslie, Cecilia Goueli
International Journal of Neonatal Screening. 2022-07-19 - 1 citationsMotor Responses in Pediatric Pompe Disease in the ADVANCE Participant Cohort.Tina Duong, Priya S Kishnani, Kristina An Haack, Meredith C Foster, James B Gibson
Journal of Neuromuscular Diseases. 2022-01-01
Grant Support
- Rhgaa Treatment In Patients Over 6 And LESS THAN 36 Months OldNational Center For Research Resources2005–2007
- Iduronate-2-Sulfatase Replacement Therapy In MPS IINational Center For Research Resources2004–2007
- Rhgaa Treatment In Patients <6 Months OldNational Center For Research Resources2005–2006
- Rhgaa Treatment In Patients Over 6 &Less THAN 36 MonthsNational Center For Research Resources2004
- Genetic Models For GalactosemiaNational Institute Of Diabetes And Digestive And Kidney Diseases1994–1998
- Genetic Models For GalactosemiaNational Institute Of Diabetes And Digestive And Kidney Diseases1992
- Ontogeny Of Glucagon Action: Monoclonal Antibody StudiesNational Institute Of Diabetes And Digestive And Kidney Diseases1985–1987
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