Bruce R Korf

Summary

Affiliation: University of Alabama at Birmingham
Country: USA

Publications

  1. ncbi request reprint The phakomatoses
    Bruce R Korf
    Department of Genetics, University of Alabama at Birmingham, Birmingham, AL 35294 0024, USA
    Clin Dermatol 23:78-84. 2005
  2. pmc Human chromosome 7: DNA sequence and biology
    Stephen W Scherer
    Department of Genetics and Genomic Biology, The Hospital for Sick Children, Toronto, Ontario, Canada, M5G 1X8
    Science 300:767-72. 2003
  3. doi request reprint Neurofibromatosis
    Bruce R Korf
    Department of Genetics, University of Alabama at Birmingham, Birmingham, AL, USA Electronic address
    Handb Clin Neurol 111:333-40. 2013
  4. ncbi request reprint New approaches to molecular diagnosis
    Bruce R Korf
    Department of Genetics, University of Alabama at Birmingham, 1720 Second Ave S, Kaul 230, Birmingham, AL 35294, USA
    JAMA 309:1511-21. 2013
  5. ncbi request reprint Basic genetics
    Bruce R Korf
    Department of Genetics, University of Alabama at Birmingham, 1530 3rd Avenue, South Kaul 230, Birmingham, AL 35294, USA
    Prim Care 31:461-78, vii. 2004
  6. ncbi request reprint The phakomatoses
    Bruce R Korf
    Department of Genetics, University of Alabama at Birmingham, 1530 Third Avenue South, Birmingham, AL 35294, USA
    Neuroimaging Clin N Am 14:139-48, vii. 2004
  7. ncbi request reprint Integration of genetics into medical practice
    Bruce R Korf
    Department of Genetics, University of Alabama at Birmingham, 1530 3rd Avenue South, Hugh Kaul Human Genetics Bldg 230, Birmingham, AL 35294 0024, USA
    Growth Horm IGF Res 14:S146-9. 2004
  8. ncbi request reprint What's new in neurogenetics? Amish microcephaly
    Bruce R Korf
    Department of Genetics, University of Alabama at Birmingham, Kaul Human Genetics Building Rm 230, 720 20th Street South, Birmingham, AL 35294 0024, USA
    Eur J Paediatr Neurol 7:393-4. 2003
  9. pmc Statins, bone, and neurofibromatosis type 1
    Bruce R Korf
    Department of Genetics, University of Alabama at Birmingham, 1530 Third Avenue South, Kaul 230, Birmingham, AL, USA
    BMC Med 6:22. 2008
  10. doi request reprint Report of the Banbury Summit Meeting on the evolving role of the medical geneticist, February 12-14, 2006
    Bruce R Korf
    Department of Genetics, University of Alabama at Birmingham, Birmingham, Alabama 35294, USA
    Genet Med 10:502-7. 2008

Detail Information

Publications39

  1. ncbi request reprint The phakomatoses
    Bruce R Korf
    Department of Genetics, University of Alabama at Birmingham, Birmingham, AL 35294 0024, USA
    Clin Dermatol 23:78-84. 2005
    ..In each case, genetic testing is beginning to be available; principles of the use of genetic tests will be described...
  2. pmc Human chromosome 7: DNA sequence and biology
    Stephen W Scherer
    Department of Genetics and Genomic Biology, The Hospital for Sick Children, Toronto, Ontario, Canada, M5G 1X8
    Science 300:767-72. 2003
    ..This approach enabled the discovery of candidate genes for developmental diseases including autism...
  3. doi request reprint Neurofibromatosis
    Bruce R Korf
    Department of Genetics, University of Alabama at Birmingham, Birmingham, AL, USA Electronic address
    Handb Clin Neurol 111:333-40. 2013
    ..Genetic testing is possible to identify mutations. Insights into pathogenesis are beginning to suggest new treatment strategies, and therapeutic trials with several new forms of treatment are underway...
  4. ncbi request reprint New approaches to molecular diagnosis
    Bruce R Korf
    Department of Genetics, University of Alabama at Birmingham, 1720 Second Ave S, Kaul 230, Birmingham, AL 35294, USA
    JAMA 309:1511-21. 2013
    ..The purpose of this article is to assist physicians in recognizing where new approaches to genetic and genomic testing may be applied clinically and in being aware of the principles of interpretation of test results...
  5. ncbi request reprint Basic genetics
    Bruce R Korf
    Department of Genetics, University of Alabama at Birmingham, 1530 3rd Avenue, South Kaul 230, Birmingham, AL 35294, USA
    Prim Care 31:461-78, vii. 2004
    ..Definitions of terms that appear here in italics can be found in the on-line, illustrated glossary at www.genetests.org...
  6. ncbi request reprint The phakomatoses
    Bruce R Korf
    Department of Genetics, University of Alabama at Birmingham, 1530 Third Avenue South, Birmingham, AL 35294, USA
    Neuroimaging Clin N Am 14:139-48, vii. 2004
    ..The radiologist plays a key role in this management, participating in diagnosis and follow-up of affected patients...
  7. ncbi request reprint Integration of genetics into medical practice
    Bruce R Korf
    Department of Genetics, University of Alabama at Birmingham, 1530 3rd Avenue South, Hugh Kaul Human Genetics Bldg 230, Birmingham, AL 35294 0024, USA
    Growth Horm IGF Res 14:S146-9. 2004
    ..It is expected that this will lead to major advances in both diagnosis and treatment, so that physicians in all areas of medicine will be using the tools of genetics in their daily practice...
  8. ncbi request reprint What's new in neurogenetics? Amish microcephaly
    Bruce R Korf
    Department of Genetics, University of Alabama at Birmingham, Kaul Human Genetics Building Rm 230, 720 20th Street South, Birmingham, AL 35294 0024, USA
    Eur J Paediatr Neurol 7:393-4. 2003
  9. pmc Statins, bone, and neurofibromatosis type 1
    Bruce R Korf
    Department of Genetics, University of Alabama at Birmingham, 1530 Third Avenue South, Kaul 230, Birmingham, AL, USA
    BMC Med 6:22. 2008
    ....
  10. doi request reprint Report of the Banbury Summit Meeting on the evolving role of the medical geneticist, February 12-14, 2006
    Bruce R Korf
    Department of Genetics, University of Alabama at Birmingham, Birmingham, Alabama 35294, USA
    Genet Med 10:502-7. 2008
  11. ncbi request reprint Genetics training in the genomic era
    Bruce R Korf
    Department of Genetics, University of Alabama at Birmingham, Birmingham, Alabama 35242, USA
    Curr Opin Pediatr 17:747-50. 2005
    ..This review summarizes some possible reasons for this decline and suggests approaches to increase the number of people who enter the field...
  12. pmc Phenotypic variability among café-au-lait macules in neurofibromatosis type 1
    Kevin P Boyd
    Department of Dermatology, University of Alabama at Birmingham, Birmingham, Alabama, USA
    J Am Acad Dermatol 63:440-7. 2010
    ..Café-au-lait macules (CALMs) in neurofibromatosis type 1 (NF1) are an early and accessible phenotype in NF1, but have not been extensively studied...
  13. pmc Neurofibromatosis type 1
    Kevin P Boyd
    Departments of Dermatology and Genetics, University of Alabama at Birmingham, 1530 3rd Ave S, Birmingham, AL 35294 0009, USA
    J Am Acad Dermatol 61:1-14; quiz 15-6. 2009
    ..This paper addresses the dermatologist's role in diagnosis and management of NF1 and describes the variety of cutaneous and extracutaneous findings in NF1 to which the dermatologist may be exposed...
  14. doi request reprint Cancer risk assessment and the genetic counseling process: using hereditary breast and ovarian cancer as an example
    Sandra K Prucka
    Department of Genetics, University of Alabama at Birmingham, Birmingham, Ala, USA
    Med Princ Pract 17:173-89. 2008
    ..In addition, tools are provided to assist in identifying these individuals in clinical practice and streamlining the referral process to a cancer genetics center...
  15. doi request reprint Germline loss-of-function mutations in LZTR1 predispose to an inherited disorder of multiple schwannomas
    Arkadiusz Piotrowski
    1 Medical Genomics Laboratory, Department of Genetics, University of Alabama at Birmingham, Birmingham, Alabama, USA 2 Faculty of Pharmacy, Medical University of Gdansk, Gdansk, Poland 3
    Nat Genet 46:182-7. 2014
    ..Our findings identify LZTR1 as a gene predisposing to an autosomal dominant inherited disorder of multiple schwannomas in ∼80% of 22q-related schwannomatosis cases lacking mutation in SMARCB1. ..
  16. doi request reprint Overview of molecular genetic diagnosis
    Shuko Harada
    University of Alabama at Birmingham, USA
    Curr Protoc Hum Genet . 2013
    ..The unit also overviews recent progress on high-throughput sequencing system and its possibility for its clinical application...
  17. doi request reprint Overview of molecular genetic diagnosis
    Bruce R Korf
    University of Alabama at Birmingham, Birmingham, Alabama, USA
    Curr Protoc Hum Genet . 2006
    ..The unit then describes the types of disorders that are best suited for linkage-based analysis and offers guidance for interpreting the data...
  18. doi request reprint Clinically relevant single gene or intragenic deletions encompassing critical neurodevelopmental genes in patients with developmental delay, mental retardation, and/or autism spectrum disorders
    Fady M Mikhail
    Department of Genetics, University of Alabama at Birmingham, 35294, USA
    Am J Med Genet A 155:2386-96. 2011
    ....
  19. ncbi request reprint Impact of neurofibromatosis 1 on Quality of Life: a cross-sectional study of 176 American cases
    Patricia Z Page
    Department of Genetics, University of Alabama at Birmingham, Birmingham, Alabama, USA
    Am J Med Genet A 140:1893-8. 2006
    ....
  20. ncbi request reprint Genetic testing in cardiovascular disease
    Nathaniel H Robin
    Department of Genetics, University of Alabama at Birmingham, Birmingham, Alabama 35294, USA
    J Am Coll Cardiol 50:727-37. 2007
    ..Specific applications to cardiovascular diseases, including coronary artery disease, cardiomyopathies, cardiac arrhythmias, and pulmonary arterial hypertension are discussed...
  21. ncbi request reprint Integration of genomics into medical practice
    Bruce R Korf
    Department of Genetics, University of Alabama at Birmingham, 1720 2nd Ave South, Kaul 230, Birmingham, Alabama 35294, USA
    Discov Med 16:241-8. 2013
    ..It is likely that integration of genomics into medical practice will occur gradually over a long period of time, but the process is now well underway. ..
  22. ncbi request reprint Report of Banbury Summit meeting on training of physicians in medical genetics, October 20-22, 2004
    Bruce R Korf
    University of Alabama at Birmingham, Birmingham, AL, USA
    Genet Med 7:433-8. 2005
  23. ncbi request reprint 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
    Bruce R Korf
    Department of Genetics, University of Alabama at Birmingham, USA
    N Engl J Med 352:1800-8. 2005
  24. ncbi request reprint Pathophysiology of neurofibromatosis type 1
    Amy Theos
    University of Alabama at Birmingham, Birmingham, Alabama, AL 35294, USA
    Ann Intern Med 144:842-9. 2006
  25. doi request reprint Developing a national collaborative study system for rare genetic diseases
    Michael S Watson
    American College of Medical Genetics, Bethesda, Maryland 20814, USA
    Genet Med 10:325-9. 2008
    ....
  26. pmc Characterization of apparently balanced chromosomal rearrangements from the developmental genome anatomy project
    Anne W Higgins
    Department of Pathology, Brigham and Women s Hospital and Harvard Medical School, Boston, MA 02115, USA
    Am J Hum Genet 82:712-22. 2008
    ..Chromosomal rearrangements, both balanced and unbalanced, in individuals with multiple congenital anomalies continue to be a valuable resource for gene discovery and annotation...
  27. pmc Disruption of diacylglycerol kinase delta (DGKD) associated with seizures in humans and mice
    Natalia T Leach
    Department of Obstetrics, Gynecology, and Reproductive Biology, Brigham and Women s Hospital and Harvard Medical School, Boston, MA 02115, USA
    Am J Hum Genet 80:792-9. 2007
    ..These findings implicate DGKD disruption by the t(X;2)(p11.2;q37)dn in the observed phenotype and support a more general role for DGKD in the etiology of seizures...
  28. ncbi request reprint Clinical features and pathobiology of neurofibromatosis 1
    Bruce R Korf
    Harvard Partners Center for Genetics and Genomics, Boston, MA 02115, USA
    J Child Neurol 17:573-7; discussion 602-4, 646-51. 2002
    ..Ultimately, it is hoped that this will be translated into specific means of treatment. This review describes the various clinical features of neurofibromatosis 1 and considers them in the context of the pathophysiology of the disorder...
  29. ncbi request reprint Determination of end points for treatment of neurofibromatosis 1
    Bruce R Korf
    Harvard Partners Center for Genetics and Genomics, Boston, MA 02115, USA
    J Child Neurol 17:642-5; discussion 646-51. 2002
    ..The unpredictable natural history and variable phenotype present challenges for clinical trials in neurofibromatosis 1, which will need to be addressed to develop a system for reliable testing of potential therapies...
  30. ncbi request reprint Genetics and medical practice: new approaches to "old" disorders
    Bruce R Korf
    Curr Opin Pediatr 14:688-90. 2002
  31. ncbi request reprint Anaesthetic management of children with tuberous sclerosis
    Ze ev Shenkman
    Department of Anaesthesia, Children s Hospital, Brigham and Women s Hospital and Harvard Medical School, Boston, MA, USA
    Paediatr Anaesth 12:700-4. 2002
    ..Tuberous sclerosis (TS) is a hamartomatous disease that usually presents with cutaneous and intracranial lesions, but can also affect other organ systems...
  32. ncbi request reprint Genetics in medical practice
    Bruce R Korf
    Harvard Partners Center for Genetics and Genomics, Boston, MA 02115, USA
    Genet Med 4:10S-14S. 2002
    ..The Human Genome Project has made information of inestimable diagnostic and therapeutic importance available. The medical profession now must rise to both the opportunities and challenges that this wealth of information presents...
  33. ncbi request reprint Integration of genetics into clinical teaching in medical school education
    Bruce R Korf
    Harvard Partners Center for Genetics and Genomics, Boston, MA 02115, USA
    Genet Med 4:33S-38S. 2002
    ..The author looks at the underlying pedagogy, how basic science teaching in genetics is provided, and an approach currently being used to include genetics in clinical teaching...
  34. ncbi request reprint Early childhood hearing loss: clinical and molecular genetics. An educational slide set of the American College of Medical Genetics
    Raye L Alford
    The Bobby R Alford Department of Otorhinolaryngology and Communicative Sciences, Baylor College of Medicine, Houston, Texas 77030, USA
    Genet Med 5:338-41. 2003
    ..The slide set is available through the ACMG (http://www.acmg.net) for $20, plus applicable tax and shipping. It is the first in a series of educational slide sets to be developed by the ACMG...
  35. ncbi request reprint Outline of a medical genetics curriculum for internal medicine residency training programs
    Douglas L Riegert-Johnson
    McKusick Nathans Institute of Genetic Medicine, Johns Hopkins Hospital, Baltimore, Maryland, USA
    Genet Med 6:543-7. 2004
    ..Teaching should be related to clinical experiences whenever possible. The curriculum developed by the committee and presented in this article will assist in teaching residents the attitudes, knowledge, and skills they will require...
  36. ncbi request reprint Genetics in medical practice: the need for ultimate makeover
    Bruce R Korf
    Genet Med 7:293-4. 2005
  37. ncbi request reprint Psychiatric genetics: a survey of psychiatrists' knowledge, opinions, and practice patterns
    Christine T Finn
    Department of Psychiatry, the Psychiatric Genetics Program in Mood and Anxiety Disorders, Massachusetts General Hospital, Boston, Mass 02115, USA
    J Clin Psychiatry 66:821-30. 2005
    ..The goal of this study was to assess psychiatrists' familiarity with and attitudes toward genetic information...
  38. ncbi request reprint The case for strategic international alliances to harness nutritional genomics for public and personal health
    Jim Kaput
    Center of Excellence in Nutritional Genomics, University of California, Davis, CA 95616, USA
    Br J Nutr 94:623-32. 2005
    ....
  39. ncbi request reprint Cardiovascular disease in neurofibromatosis 1: report of the NF1 Cardiovascular Task Force
    J M Friedman
    Department of Medical Genetics, University of British Columbia, 6174 University Boulevard, Vancouver, BC V6T 1Z3, Canada
    Genet Med 4:105-11. 2002
    ..Patients with neurofibromatosis 1 (NF1) are at increased risk for a variety of cardiovascular disorders, but the natural history and pathogenesis of these abnormalities are poorly understood...