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Faculty Detail    
Name BRUCE R KORF
  
Campus Address KAUL 238 Zip 0024
Phone 205-934-9411
E-mail bkorf@uab.edu
Other websites www.genetics.uab.edu
     


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  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 and Genomic Sciences 
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   
 

Research/Clinical Interest
Title
Neurofibromatosis Type 1
Description
My research is focused on the genetics and management of neurofibromatosis type 1. In collaboration with Dr. Ludwine Messiaen in the Department of Genetics, we are looking at genotype-phenotype correlations and the role of genetic modifiers. Quantitative approaches are being used to asses the NF1 phenotype, including volumetric MRI and laser scanning to assess dermal tumors. I serve as the principal investigator for a national clinical trials consortium for neurofibromatosis. We currently have four approved trials for various manifestations of the disorder.

Selected Publications 
Publication PUBMEDID
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 
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 
 

Keywords
neurofibromatosis; neurogenetics; molecular diagnosis

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