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Office
9500 Euclid Ave
Cleveland, OH 44195Phone+1 800-223-2273Fax+1 216-445-6935
Education & Training
Case Western Reserve University/University Hospitals Cleveland Medical CenterResidency, Medical Genetics and Genomics, 1986 - 1989
McGaw Medical Center of Northwestern UniversityResidency, Pediatrics, 1982 - 1985
University of Cincinnati College of MedicineClass of 1982
Certifications & Licensure
OH State Medical License 1986 - 2025
IL State Medical License 1982 - 1987- American Board of Medical Genetics and Genomics Clinical Genetics
- American Board of Pediatrics Pediatrics
Publications & Presentations
PubMed
- 15 citationsEP300-related Rubinstein-Taybi syndrome: Highlighted rare phenotypic findings and a genotype-phenotype meta-analysis of 74 patients.Jennifer L. Cohen, Samantha A. Schrier Vergano, Sarah Mazzola, Alanna Strong, Beth Keena
American Journal of Medical Genetics. Part A. 2020-10-11 - 75 citationsClinical spectrum of individuals with pathogenic NF1 missense variants affecting p.Met1149, p.Arg1276, and p.Lys1423: genotype–phenotype study in neurofibromatosis type 1Magdalena Koczkowska, Tom Callens, Yunjia Chen, Alicia Gomes, Alesha D. Hicks
Human Mutation. 2020-01-01 - 123 citationsGenotype-Phenotype Correlation in NF1: Evidence for a More Severe Phenotype Associated with Missense Mutations Affecting NF1 Codons 844–848Magdalena Koczkowska, Yunjia Chen, Tom Callens, Alicia Gomes, Angela Sharp
American Journal of Human Genetics. 2018-01-04
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