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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
- 7 citationsRLIM Is a Candidate Dosage-Sensitive Gene for Individuals with Varying Duplications of Xq13, Intellectual Disability, and Distinct Facial Features.Elizabeth E. Palmer, Renee Carroll, Marie Shaw, Raman Kumar, Andre E. Minoche
American Journal of Human Genetics. 2020-12-03 - 38 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 - 6 citationsClinical Features of a Retinopathy Associated With a Dominant Allele of the RGR Gene.Rola Ba-Abbad, Monique J Leys, Xiang Wang, Christina Chakarova, Naushin Waseem
Investigative Ophthalmology & Visual Science. 2018-10-01
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