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Office
6811 Austin Center Blvd
Suite 400
Austin, TX 78731Phone+1 512-628-1840Fax+1 512-628-1840
Education & Training
- University of FloridaResidency, Pediatrics, 1977 - 1980
- University of Missouri-Columbia School of MedicineClass of 1977
Certifications & Licensure
- CA State Medical License 1980 - Present
- TX State Medical License 1983 - 2022
- FL State Medical License 1978 - 1979
- American Board of Medical Genetics and Genomics Clinical Cytogenetics
- American Board of Medical Genetics and Genomics Clinical Genetics
- American Board of Pediatrics Pediatrics
Awards, Honors, & Recognition
- Top Doctors:SE Texas Castle Connolly, 2013
- Fellow (FAAP) American Academy of Pediatrics
Publications & Presentations
PubMed
- 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 - 201 citationsDetection of clinically relevant exonic copy‐number changes by array CGHPhilip M. Boone, Carlos A. Bacino, Chad A. Shaw, Patricia A. Eng, Patricia Hixson
Human Mutation. 2010-12-01 - 60 citationsRedefined genomic architecture in 15q24 directed by patient deletion/duplication breakpoint mappingAyman W. El-Hattab, Teresa A. Smolarek, Martha E. Walker, Elizabeth K. Schorry, LaDonna Immken
Human Genetics. 2009-06-26
Journal Articles
- Clinical Exome Sequencing Reveals Locus Heterogeneity and Phenotypic Variability of CohesinopathiesScott E Hickey, Leah Slattery, James R Lupski, Margaret P Adam, Olivia Wenger, Davut Pehlivan, Laura Martin, Farida Abid, Dorothy Grange, Jennifer E Posey, Alison A Be..., Nature
Professional Memberships
- Fellow
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