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Office
1717 6th Ave S
Birmingham, AL 35233Phone+1 800-822-8816
Summary
- Chief Genomics Officer, UAB Medicine,
Wayne H. and Sara Crews Finley Endowed Chair of Medical Genetics, Professor, Department of Genetics
Education & Training
- Boston Children’s Hospital/Beth Israel Deaconess Medical Center/Harvard Medical SchoolResidency, Child Neurology, 1982 - 1983
- Childrens HospitalInternship, Transitional Year, 1980 - 1981
- Weill Cornell MedicineClass of 1980
- Rockefeller UniversityPh.D., 1979
- Cornell UniversityA.B., 1974
Certifications & Licensure
- AL State Medical License 2003 - 2024
- MA State Medical License 1983 - 2005
- American Board of Medical Genetics and Genomics Clinical Cytogenetics
- American Board of Medical Genetics and Genomics Clinical Genetics
- American Board of Pediatrics Pediatrics
- American Board of Psychiatry and Neurology Neurology with Special Qualification in Child Neurology
- American Board of Medical Genetics and Genomics Clinical Molecular Genetics and Genomics
Awards, Honors, & Recognition
- America's Top Doctors Castle Connolly, 2002-2014
- Award for Excellence in Human Genetics Education American Society of Human Genetics, 2009
- Honoree National Neurofibromatosis Foundation, Massachusetts Chapter, 1995
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Clinical Trials
- A Phase II Study of the mTOR Inhibitor Sirolimus in Neurofibromatosis Type 1 Related Plexiform Neurofibromas Start of enrollment: 2008 Apr 01
- A Randomized Placebo-Controlled Study of Lovastatin in Children With Neurofibromatosis Type 1 Start of enrollment: 2009 Jul 01
- Everolimus for Children With NF1 Chemotherapy-Refractory Radiographic Progressive Low Grade Gliomas Start of enrollment: 2010 Jul 10
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Publications & Presentations
PubMed
- 29 citationsThe Genomic Medicine Integrative Research Framework: A Conceptual Framework for Conducting Genomic Medicine ResearchCarol R. Horowitz, Lori A. Orlando, Anne Slavotinek, Josh F. Peterson, Frank Angelo
American Journal of Human Genetics. 2019-06-06 - 1155 citationsRecommendations for reporting of secondary findings in clinical exome and genome sequencing, 2016 update (ACMG SF v2.0): A policy statement of the American College of ...Sarah S. Kalia, Kathy Adelman, Sherri J. Bale, Wendy K. Chung, Christine M. Eng
Genetics in Medicine. 2017-02-01 - 268 citationsUpdated International Tuberous Sclerosis Complex Diagnostic Criteria and Surveillance and Management Recommendations.Hope Northrup, Mary E. Aronow, E. Martina Bebin, John Bissler, Thomas N. Darling
Pediatric Neurology. 2021-07-24
Journal Articles
- Expanding the Clinical Phenotype of Individuals with a 3-Bp in-Frame Deletion of the NF1 Gene (c.2970_2972del): An Update of Genotype–Phenotype CorrelationRachel K Hachen, Elizabeth K Schorry, Arthur S Aylsworth, Katherine A Rauen, Ashraf Syed, Daryl A Scott, Lois J Starr, Donald G Basel, Lynne M Bird, Leah W Burke, Mari..., Nature
- Germline and Somatic NF1 Alterations Are Linked to Increased HER2 Expression in Breast CancerMaria T Acosta, Bruce R Korf, Clinical Cancer Research
- Phase I trial and pharmacokinetic study of sorafenib in children with neurofibromatosis type I and plexiform neurofibromas.Kim A, Dombi E, Tepas K, Fox E, Martin S, Wolters P, Balis FM, Jayaprakash N, Turkbey B, Muradyan N, Choyke PL, Reddy A, Korf B, Widemann BC, Pediatr Blood Cancer, 1/1/2013
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Books/Book Chapters
Lectures
- Integration of Genomics into Medical Practice: When and How?San Francisco, CA - 6/1/2013
- Genomic Testing in the Clinic: Next StepsSan Francisco, CA - 2/1/2013
- Treatment of Pediatric Genetic DiseaseColumbus, GA - 2/1/2013
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Press Mentions
- All of Us Research Program Launches New Enrollment Location in Dothan, AlaMarch 20th, 2023
- Investment in UAB Genomic Research Offers Significant DividendsDecember 3rd, 2020
- Looking to the Future with Dr. Francis CollinsMarch 16th, 2020
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Professional Memberships
- Fellow
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