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Corinne Boehm, M.S.

Associate Professor, Department of Pediatrics BS, Tulane University, 1974 MS, University of Colorado, 1979

Main Interests:

My primary area of interest is the identification of genetic factors that impact human health and the application of these findings to the human condition. As Associate Director of the Genotyping Laboratory at CIDR, I am involved in the production efforts of a high-throughput genotyping service that provides DNA microsatellite genome scans for linkage studies and in development efforts to implement other technologies that appear promising for identification of genetic components of human disease. I have a special interest in the field of genetic counseling and its important role in the understanding of how research findings translate into the practice of medicine.

Research Interests:

DNA-based diagnostics of genetic disorders
Identification of genes involved in common disorders
High through-put genotyping service
Link: Center for Inherited Disease Research (CIDR)

Clinical Activities:

Board Certification: Board certifications: American Board of Medical Genetics, American Board ofGenetic Counsling
Clinical Interests: Clinical interests: Hemoglobinopathies, Ataxia telangeictasia, X-Adrenoleukodystrophy

Educational Activities:

Lecturer, Johns Hopkins/National Human Genetics Research Institute Genetic Counseling Graduate Program
Participant, Cellular and Molecular Medicine Graduate Student Core Discussion Course
Link: Johns Hopkins/National Human Genetics Research Institute Genetic Counseling Graduate Program

Publications:

Antonarakis SE, Boehm CD, Giardina PJV, Kazazian HH Jr: Nonrandom association of polymorphic restriction sites in the beta-globin gene cluster. Proc Natl Acad Sci USA 79: 137-141, 1982. Abstract
Orkin SH, Kazazian HH Jr, Antonarakis SE, Goff SC, Boehm CD, Sexon JP, Waber PG, Giardina PJV: Linkage of beta-thalassaemia mutations and beta-globin gene polymorphisms with DNA polymorphisms in human beta-globin gene cluster. Nature 296:627-631 , 1982. Abstract
Orkin SH, Little PFR, Kazazian HH Jr., Boehm CD: Improved detection of the sickle mutation by DNA analysis: application to prenatal diagnosis. New Eng J Med 307:32-36, 1982. Abstract
Boehm CD, Antonarakis SE, Phillips JA III, Stetten G, Kazazian HH Jr: Prenatal diagnosis using DNA polymorphisms. Report on 95 pregnancies at risk for sickle-cell disease or beta-thalassemia. New Eng J Med 308:1054-1058, 1983. Abstract
Saiki RK, Chang C-A, Levenson CH, Warren TC, Boehm CD, Kazazian HH Jr, Erlich HA: Diagnosis of sickle cell anemia and beta-thalassemia with enzymatically amplified DNA and nonradioactive allele-specific oligonucleotide probes. N Eng J Med 319:537-541, 1988. Abstract
Hoffman KJ, Boehm CD: Familial Neurofibromatosis Type 1: Clinical Experience With DNA Testing. J Pediatr 120:394-398 , 1992. Abstract
Hogge WA, Hogge JS, Boehm CD, Sanders RC: Increased Echogenicity in the Fetal Abdomen: Use of DNA Analysis to Establish a Diagnosis of Cystic Fibrosis. J Ultrasound Med 12:451-454, 1993. Abstract
Dumars KW, Boehm CD, Eckman JR, Giardina PJ, Lane PL, Schafer FE: Practical guide to the diagnosis of thalassemia. Council of Regional Networks for Genetic Services (CORN). Am Jour Med Genet 62:29-37 , 1996. Abstract
Boehm CD, Cutting GR, Lachtermacher MB, Moser HW, Chong SS: Accurate DNA-Based Diagnostic and Carrier Testing for X-linked Adrenoleukodystrophy. Mol Genet Metab 66:128-136, 1999. Abstract
Kemp S, Pujol A, Waterham HR, van Gell BM, Boehm CD, Raymond GV, Cuttin GR, Wanders RJA, Moser HW: ABCD1 Mutations in the X-linked Adrenoleukodystrophy Mutation Database: Role in Diagnosis and Clinical Correlations. Hum Mut 18:499-515, 2001. Abstract