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Faculty Detail    
Name BRUCE R KORF
Wayne H. and Sara Crews Finley Chair in Medical Genetics
Professor and Chair, Department of Genetics
Director, Heflin Center for Genomic Sciences
 
Campus Address KAUL 238 Zip 0024
Phone  205-934-9411
E-mail  bkorf@uab.edu
Other websites www.genetics.uab.edu
     

Education
Undergraduate  Cornell University    1974  AB 
Graduate  The Rockefeller University    1979  PhD 
Medical School  Cornell University    1980  MD 
Residency  Boston Children's Hospital    1982  Pediatrics 
Residency  Harvard-Longwood Neurology Training Program    1985  Child Neurology 
Fellowship  Harvard Medical School Genetics Training Program    1985  Medical Genetics, Cytogenetics, Molecular Genetics 


Faculty Appointment(s)
Appointment Type Department Division Rank
Primary  Genetics   Genetics Chair Office Professor
Secondary  Neurobiology  Neurobiology Professor
Secondary  Pediatrics   Pediatrics Chair Office Professor
Center  Arthritis & Musculoskeletal Diseases Center  Arthritis & Musculoskeletal Diseases Center Professor
Center  Biomedical Engineering  Biomatrix Eng Regen Med (BERM) Ctr Professor
Center  Civitan International Research Center  Civitan International Research Center Professor
Center  Comprehensive Cancer Center  Comprehensive Cancer Center Professor
Center  General Clinical Research Center  Ctr for Clinical & Translational Sci Professor
Center  Neurology   Ctr Neurodegeneration & Exp Ther (CNET) Professor

Graduate Biomedical Sciences Affiliations
Cancer Biology 
Genetics, Genomics and Bioinformatics 
Hughes Med-Grad Fellowship Program 
Integrative Biomedical Sciences 
Integrative Genetics Graduate Program 
Neuroscience 

Biographical Sketch 
A.B., Cornell University, 1974.
Ph.D., The Rockfeller University (Genetics and Cell Biology), 1979.
M.D., Cornell University Medical College, 1980.
Intern in Pediatrics, Chidren's Hospital, Boston (1980-1981)
Junior Assistant Resident in Pediatrics, Chidren's Hospital, Boston, 1981-1982.
Junior Assistant Resident in Neurology, Harvard-Longwood Neurology Training Program, 1982-1983.
Senior Assistant Resident in Neurology, Harvard-Longwood Neurology Training Program, 1983-1984.
Chief Resident in Neurology, Harvard-Longwood Neurology Training Program, 1984-1985.
Fellow in Genetics, Harvard Medical School Genetics Training Program, 1982-1985.

Society Memberships
Organization Name Position Held Org Link
ACMG Foundation for Genetic and Genomic Medicine  President   
American College of Medical Genetics  President (former)   
American Society of Human Genetics  Board of Directors (former)   
Association of Professors of Human and Medical Genetics  President (former)   
National Human Genome Research Institute  Board of Scientific Counselors (former)   

Research/Clinical Interest
Title
Neurofibromatosis Type 1
Description
I have a longstanding research interest in neurofibromatosis type 1. I am involved in studies of genotype-phenotype correlations and clinical trials using molecularly-targeted therapies. We are also developing new animal models that incorporate human NF1 mutations and are using these to identify drugs that may partially restore function to the mutated gene or gene product. In addition, I am involved in developing approaches for the integration of genetics and genomics into medical practice.

Selected Publications 
Publication PUBMEDID
Korf BR, Rehm HL. New approaches to molecular diagnosis. JAMA. 2013;309(14):1511-21. doi: 10.1001/jama.2013.3239.  23571590 
Piotrowski A, Xie J, Liu YF, Poplawski AB, Gomes AR, Madanecki P, Fu C, Crowley MR, Crossman DK, Armstrong L, Babovic-Vuksanovic D, Bergner A, Blakeley JO, Blumenthal AL, Daniels MS, Feit H, Gardner K, Hurst S, Kobelka C, Lee C, Nagy R, Rauen KA, Slopis JM, Suwannarat P, Westman JA, Zanko A, Korf BR, Messiaen LM. Germline loss-of-function mutations in LZTR1 predispose to an inherited disorder of multiple schwannomas. Nat Genet. 2013. Epub 2013/12/24. doi: 10.1038/ng.2855.  24362817 
Competencies for the physician medical geneticist in the 21st century.
Korf BR, Irons M, Watson MS.
Genet Med. 2011 Nov;13(11):911-2. No abstract available. 
22075526 
Clinically relevant single gene or intragenic deletions encompassing critical neurodevelopmental genes in patients with developmental delay, mental retardation, and/or autism spectrum disorders.
Mikhail FM, Lose EJ, Robin NH, Descartes MD, Rutledge KD, Rutledge SL, Korf BR, Carroll AJ.
Am J Med Genet A. 2011 Oct;155A(10):2386-96. 
22031302 
Phenotypic variability among café-au-lait macules in neurofibromatosis type 1.
Boyd KP, Gao L, Feng R, Beasley M, Messiaen L, Korf BR, Theos A.
J Am Acad Dermatol. 2010 Sep;63(3):440-7. Epub 2010 Jun 3. 
20605257 
Clinical and Mutational Spectrum of Neurofibromatosis Type 1-like Syndrome.
Messiaen L, Yao S, Brems H, Callens T, Sathienkijkanchai A, Denayer E, Spencer E, Arn P, Babovic-Vuksanovic D, Bay C, Bobele G, Cohen BH, Escobar L, Eunpu D, Grebe T, Greenstein R, Hachen R, Irons M, Kronn D, Lemire E, Leppig K, Lim C, McDonald M, Narayanan V, Pearn A, Pedersen R, Powell B, Shapiro LR, Skidmore D, Tegay D, Thiese H, Zackai EH, Vijzelaar R, Taniguchi K, Ayada T, Okamoto F, Yoshimura A, Parret A, Korf B, Legius E.
JAMA. 2009 Nov 18;302(19):2111-2118. 
19920235 
Exploring concordance and discordance for return of incidental findings from clinical sequencing.
Green RC, Berg JS, Berry GT, Biesecker LG, Dimmock DP, Evans JP, Grody WW, Hegde MR, Kalia S, Korf BR, Krantz I, McGuire AL, Miller DT, Murray MF, Nussbaum RL, Plon SE, Rehm HL, Jacob HJ.
Genet Med. 2012 Apr;14(4):405-10. doi: 10.1038/gim.2012.21. Epub 2012 Mar 15. 
22422049 

Keywords
neurofibromatosis; neurogenetics; molecular diagnosis, genomic medicine