Bruce Korf, M.D, Ph.D.

Professor, Department of Neurobiology
Primary Department Affiliation: Genetics
Primary Research Area: Neurodevelopment and Developmental Disabilities

Recent Publications

A.B., Cornell University, 1974.
Ph.D. The Rockefeller University (Genetics and Cell Biology), 1979
M.D., Cornell University Medical College, 1980
Intern in Pediatrics, Children's Hospital, Boston (1980-1981)
Junior Assistant Resident in Pediatrics, Children'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

Licensure and Certification:
1983, Massachusetts Board of Registration in Medicine
1984, American Board of Medical Genetics (Medical Genetics and Cytogenetics)
1986, American Board of Psychiatry and Neurology with special competence in Child Neurology
1988, American Board of Pediatrics
1993, American Board of Medical genetics (Molecular Genetics)

Research interests:
Studies of the natural history, diagnosis, and management of neurofibromatosis type 1 (NF1) have been conducted over a period of nearly 20 years. These studies include the diagnostic outcome of children presenting with multiple cafe-au-lait spots, learning disabilities in NF-1, and abdominal migraine in children with NF-1. In the laboratory, a fluorescence in situ hybridization assay has been developed to detect the occurrence of large deletions involving the entire NF1 gene. More than 15 patients with such large deletions have been identified and studied phenotypically. They have a distinct phenotype of dysmorphic features, early onset and large number of neurofibromas, and severe developmental impairment. This is the only genotype-phenotype correlation so far established in NF1. A major clinical research project is ongoing involving study of the natural history of plexiform neurofibromas in NF1. This involves coordination of more than 15 clinical centers worldwide that will provide MRI data to be used in quantitative analysis of the patterns of growth of plexiform neurofibromas. The study will provide normative data on tumor growth, test the efficacy of volumetric MRI, and establish a network of centers to conduct clinical trials of potential therapeutic agents. Ongoing genotype-phenotype studies of NF1 include quantitative analysis of the NF1 phenotype and correlation with NF1 gene mutations as well as SNP's in candidate modifying genes.

Recent Publications:
Page PZ, Page GP, Ecosse E, Korf BR, Leplege A, Wolkenstein P. Impact of neurofibromatosis 1 on Quality of Life: A cross-sectional study of 176 American cases. Am J Med Genet A. 2006 [Epub ahead of print]

Theos A, Korf BR. American College of Physicians; American Physiological Society. Pathophysiology of neurofibromatosis type 1. Ann Intern Med. 144(11):842-9, 2006.

Korf BR. Genetics training in the genomic era. Curr Opin Pediatr. 17(6):747-50, 2005.

Kaput J, Ordovas JM, Ferguson L, van Ommen B, Rodriguez RL, Allen L, Ames BN, Dawson K, German B, Krauss R, Malyj W, Archer MC, Barnes S, Bartholomew A, Birk R, van Bladeren P, Bradford KJ, Brown KH, Caetano R, Castle D, Chadwick R, Clarke S, Clement K, Cooney CA, Corella D, Manica da Cruz IB, Daniel H, Duster T, Ebbesson SO, Elliott R, Fairweather-Tait S, Felton J, Fenech M, Finley JW, Fogg-Johnson N, Gill-Garrison R, Gibney MJ, Gillies PJ, Gustafsson JA, Hartman Iv JL, He L, Hwang JK, Jais JP, Jang Y, Joost H, Junien C, Kanter M, Kibbe WA, Koletzko B, Korf BR, Kornman K, Krempin DW, Langin D, Lauren DR, Ho Lee J, Leveille GA, Lin SJ, Mathers J, Mayne M, McNabb W, Milner JA, Morgan P, Muller M, Nikolsky Y, van der Ouderaa F, Park T, Pensel N, Perez-Jimenez F, Poutanen K, Roberts M, Saris WH, Schuster G, Shelling AN, Simopoulos AP, Southon S, Tai ES, Towne B, Trayhurn P, Uauy R, Visek WJ, Warden C, Weiss R, Wiencke J, Winkler J, Wolff GL, Zhao-Wilson X, Zucker JD. The case for strategic international alliances to harness nutritional genomics for public and personal health. Br J Nutr. 94(5):623-32, 2005.

Korf BR, Feldman G, Wiesner GL. Report of Banbury Summit meeting on training of physicians in medical genetics, October 20-22, 2004. Genet Med. 7(6):433-8, 2005.
Finn CT, Wilcox MA, Korf BR, Blacker D, Racette SR, Sklar P, Smoller JW. Psychiatric genetics: a survey of psychiatrists' knowledge, opinions, and practice patterns. J Clin Psychiatry. 66(7):821-30, 2005.

Korf BR. Genetics in medical practice: the need for ultimate makeover. Genet Med. 7(5):293-4, 2005.

Korf BR, Henson JW, Stemmer-Rachamimov A. Case records of the Massachusetts General Hospital. Case 13-2005. A 48-year-old man with weakness of the limbs and multiple tumors of spinal nerves. N Engl J Med. ;352(17):1800-8, 2005.

Lim R, Jaramillo D, Poussaint TY, Chang Y, Korf B. Superficial neurofibroma: a lesion with unique MRI characteristics in patients with neurofibromatosis type 1. AJR Am J Roentgenol. 184(3):962-8, 2005.

Korf BR. The phakomatoses. Clin Dermatol. 23(1):78-84, 2005.

Riegert-Johnson DL, Korf BR, Alford RL, Broder MI, Keats BJ, Ormond KE, Pyeritz RE, Watson MS. Outline of a medical genetics curriculum for internal medicine residency training programs. Genet Med. 6(6):543-7, 2004.

Zacharia TT, Jaramillo D, Poussaint TY, Korf B. MR imaging of abdominopelvic involvement in neurofibromatosis type 1: a review of 43 patients. Pediatr Radiol. 35(3):317-22, 2005.

Korf BR. Basic genetics. Prim Care. 31(3):461-78, vii., 2004.

Korf BR. The phakomatoses. Neuroimaging Clin N Am. 14(2):139-48, vii., 2004.
Korf BR. Integration of genetics into medical practice. Growth Horm IGF Res. 14 Suppl A:S146-9, 2004.

Friedrich RE, Korf B, Funsterer C, Mautner VF. Growth type of plexiform neurofibromas in NF1 determined on magnetic resonance images. Anticancer Res 2003; 23(2A):949-952.

Mautner VF, Friedrich RE, Von Deimling A, Hagel C, Korf B, Knofel MT et al. Malignant peripheral nerve sheath tumours in neurofibromatosis type 1: MRI supports the diagnosis of malignant plexiform neurofibroma. Neuroradiology 2003; 45(9):618-625.
Poussaint TY, Jaramillo D, Chang Y, Korf B. Interobserver reproducibility of volumetric MR imaging measurements of plexiform neurofibromas. AJR Am J Roentgenol 2003; 180(2):419-423.

Sanchez-Martin M, Perez-Losada J, Rodriguez-Garcia A, Gonzalez-Sanchez B, Korf BR, Kuster W et al. Deletion of the SLUG (SNAI2) gene results in human piebaldism. Am J Med Genet 2003; 122A(2):125-132.

Scherer SW, Cheung J, MacDonald JR, Osborne LR, Nakabayashi K, Herbrick JA et al. Human Chromosome 7: DNA Sequence and Biology. Science 2003; 300(5620):767-772.
Wattanasirichaigoon D, Prasad C, Schneider G, Evans JA, Korf BR. Rib defects in patterns of multiple malformations: a retrospective review and phenotypic analysis of 47 cases. Am J Med Genet 2003; 122A(1):63-69.

Korf, B.R. Editorial review: Genetics and medical practice: new approaches to "old" disorders. Curr Opin Pediatr. 2002. 14(6):688-90.

Korf, B.R. Determination of end points for treatment of neurofibromatosis 1. J Child Neurol. 2002. 17(8):642-5.

Korf, B.R. Clinical features and pathobiology of neurofibromatosis 1. J Child Neurol. 2002. 17(8):573-7.

Friedman JM, Arbiser J, Epstein JA, Gutmann DH, Huot SJ, Lin AE, McManus B, Korf BR. Cardiovascular disease in neurofibromatosis 1: report of the NF1 Cardiovascular Task Force. Genet Med. 2002. 4(3):105-11.

Packer RJ, Gutmann DH, Rubenstein A, Viskochil D, Zimmerman RA, Vezina G, Small J, Korf B. Plexiform neurofibromas in NF1: toward biologic-based therapy. Neurology. 2002. 58(10):1461-70. Review.

Kluwe L, Friedrich RE, Korf B, Fahsold R, Mautner VF. NF1 mutations in neurofibromatosis 1 patients with plexiform neurofibromas. Hum Mutat. 2002. 19(3):309.

Korf BR. Genetic testing and medical practice. Curr Opin Pediatr. 2001. 13(6):547-9.
Korf BR. Diagnosis and management of neurofibromatosis type 1. Curr Neurol Neurosci Rep. 2001. 1(2):162-7. Review.

Heuschkel R, Kim S, Korf B, Schneider G, Bousvaros A. Abdominal migraine in children with neurofibromatosis type 1: a case series and review of gastrointestinal involvement in NF1. J Pediatr Gastroenterol Nutr. 2001. 33(2):149-54. Review.

Kenna MA, Wu BL, Cotanche DA, Korf BR, Rehm HL. Connexin 26 studies in patients with sensorineural hearing loss. Arch Otolaryngol Head Neck Surg. 2001. 127(9):1037-42.
Keegan CE, Mulliken JB, Wu BL, Korf BR. Townes-Brocks syndrome versus expanded spectrum hemifacial microsomia: review of eight patients and further evidence of a "hot spot" for mutation in the SALL1 gene. Genet Med. 2001. 3(4):310-3. Review.
MacCollin M, Gutmann DH, Korf B, Finkelstein R. Establishing priorities in neurofibromatosis research: a workshop summary. Genet Med. 2001. 3(3):212-7.
Grody WW, Griffin JH, Taylor AK, Korf BR, Heit JA. American College of Medical Genetics consensus statement on factor V Leiden mutation testing. Genet Med. 2001. 3(2):139-48.