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Office
1 Perkins Sq
Akron, OH 44308Phone+1 330-543-6633Fax+1 330-543-7649
Education & Training
- Case Western Reserve University/University Hospitals Cleveland Medical CenterResidency, Medical Genetics and Genomics, 2013 - 2015
- Nationwide Children's Hospital/Ohio State UniversityResidency, Pediatrics, 2008 - 2011
- Case Western Reserve University School of MedicineClass of 2008
Certifications & Licensure
- OH State Medical License 2008 - 2025
- American Board of Medical Genetics and Genomics Clinical Genetics and Genomics
Publications & Presentations
PubMed
- Loss-of-function in RBBP5 results in a syndromic neurodevelopmental disorder associated with microcephaly.Yue Huang, Kristy L Jay, Alden Yen-Wen Huang, Jijun Wan, Sharayu V Jangam
Genetics in Medicine. 2024-11-01 - 18 citationsMutations of the Transcriptional Corepressor ZMYM2 Cause Syndromic Urinary Tract MalformationsDervla M. Connaughton, Rufeng Dai, Danielle J. Owen, Jonathan Marquez, Nina Mann
American Journal of Human Genetics. 2020-10-01 - 16 citationsPathogenic variants in TNRC6B cause a genetic disorder characterised by developmental delay/intellectual disability and a spectrum of neurobehavioural phenotypes inclu...Jorge L. Granadillo, Alexander P.A. Stegmann, Hui Guo, Kun Xia, Brad Angle
Journal of Medical Genetics. 2020-10-01
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