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Office
400 Fairview Heights Rd
Summersville, WV 26651Phone+1 304-598-4800
Education & Training
Indiana University School of MedicineResidency, Pediatrics, 1981 - 1984- Indiana University School of MedicineClass of 1981
Certifications & Licensure
WV State Medical License 1986 - 2026
FL State Medical License 1985 - 1987- American Board of Medical Genetics and Genomics Clinical Genetics
Awards, Honors, & Recognition
- Regional Top Doctor Castle Connolly, 2014
Publications & Presentations
PubMed
- 959 citationsA copy number variation morbidity map of developmental delayGregory M. Cooper, Bradley P. Coe, Santhosh Girirajan, Jill A. Rosenfeld, Tiffany H. Vu
Nature Genetics. 2011-09-01 - 33 citationsDe Novo and Bi-allelic Pathogenic Variants in NARS1 Cause Neurodevelopmental Delay Due to Toxic Gain-of-Function and Partial Loss-of-Function Effects.Andreea Manole, Stephanie Efthymiou, Emer O'Connor, Marisa I. Mendes, Matthew J. Jennings
American Journal of Human Genetics. 2020-08-06 - 13 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
Molecular Genetics and Metabolism. 2016-09-01
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