Karen J. Hofman, M.D.

Director, Division of International Science Policy, Planning and Evaluation

Publications

Books

Editor, Disease and Mortality in Sub-Saharan Africa, Second Edition, Jamison DT, Feachem RG, Makgoba MW, Baingana FK, Bos ER, Hofman KJ and Rogo KO. The World Bank, Washington, DC 2006.

Chapters

Solarsh G and Hofman K. Chapter 10: Developmental Disabilities, in Disease and Mortality in Sub-Saharan Africa, Second Edition. The World Bank, Washington, D.C. 2006

Durkin M, Schneider H, Pathania V, Nelson K, Solarsh G, Bellows N, Scheffler R, Hofman K. Chapter 49: Learning and Developmental Disabilities, in Disease Control Priorities in Developing Countries, Second Edition. The World Bank and Oxford University Press, New York, 2006.

Hofman K, Anand N, and Keusch G. Bridging the Health Genomics Divide: A Case for Building Research Capacity in the South, in Genomics, Health and Society Emerging Issues for Public Policy, pp 143-154. Eds: Knoppers BM and Scriver C. Policy Research Initiative, Canada, 2003.

Leppert M and Hofman K. Fetal Alcohol Syndrome, in Developmental Disabilities in Infancy and Childhood. Volume II: The Spectrum of Developmental Disabilities, Chapter 19 pp 281-288. Second Edition. Eds: Capute AJ and Accardo PJ. Paul H. Brookes, Baltimore, MD, 1996.

Monographs and Proceedings

Hofman KJ, Holtzman NA. Efficacy of screening for developmental disabilities (Prepared for US Centers fro Disease Control) Down Syndrome and Neurofibromatosis Type 1., 1991

Editor: Hofman KJ, Wigton A, Adnams, CA and Jacobs MA: Workshop – Preschool Screening for Developmental Disabilities in South Africa, Child Health Unit. 1997

Journal Publications

Hofman KJ, Milne FJ and Schmidt C: Acne, hypervitaminosis A and hypercalcemia. A case report. S Afr Med J 54: 579-580, 1978.

Bezwoda WB, Hofman KJ, Bothwell TH, Derman DP, MacPhail AP and Mendelow B: Bone marrow damage due to melphalan and other cytostatic agents. S Afr Med J 58: 479-484, 1980.

Hofman KJ, Goldman AP, Lurie M, Hockley J and Bradlow BA: Familial thrombosis associated with antithrombin III deficiency in a young adult male. S Afr Med J 58: 281-282, 1980.

Hofman KJ, and Rosen EU: Reyes syndrome in Johannesburg: Epidemiology and clinical presentation. S Afr Med J 61: 283-284, 1982.

Gusella JF, Tanzi RE, Bader PI, Phelan MC, Stevenson R, Hayden MR, Hofman KJ, Faryniarz AG and Gibbons K: Deletion of Huntington's disease-linked G8 (D4S10) locus in Wolf-Hirschhorn syndrome. Nature 318: 75-78, 1985.

Kalk WJ, Hofman KJ, Smit AM, van Drimmelen M, van der Walt LA, and Moore RE: Thyroid hormone and carrier protein interrelationships in children recovering from kwashiorkor. Am J Clin Nutr 43: 406-413, 1986.

Hofman KJ, Naidu S, Moser HW, Maumenee IH and Wenger DA: Cherry red spot in association with galactosyl-B-galactosidase deficiency. J Inher Metab Dis 10: 273-274, 1987.

Hofman KJ, Bernhardt BA and Pyeritz RE: Marfan syndrome: Neuropsychological aspects. Am J Med Genet 31: 331-338, 1988.

Hofman KJ, Antonarakis SE, Missiou-Tsangaraki S, Boehm CD and Valle D: Phenylketonuria in the Greek Population: Haplotype analysis of the phenylalanine hydroxylase gene and identification of a PKU mutation. Mol Biol Med 6: 245-250, 1989.

Hayflick S, Hofman K, Tunnessen W, Leventhal B and Dugeon D: Neurofibromatosis I: Recognition and Management of Associated Neuroblastoma. Pediatric Dermatology 7: 293-295, 1990.

Hofman KJ, Steele G, Kazazian HH, and Valle D: Phenylketonuria in US Blacks: Molecular Analysis of the Phenylalanine Hydroxylase Gene. Am J Hum Genet 48: 791-798, 1991.

Hofman KJ and Boehm CD: Familial Neurofibromatosis Type I: Clinical experience with DNA testing. J Pediatr 120: 394-298, 1992.

Meschia JF, Junkins E, and Hofman KJ: Familial systemized epidermal nevus syndrome. Am J Med Genet 44: 664-667, 1992.

Aoyama T, Uchida Y, Kelley RI, Marble M, Hofman KJ, Tonsgard JH, Rhead WJ and Hashimoto T: A novel disease with deficiency of mitochondrial very-long-chain Acyl-CoA dehydrogenase. Biochem Biophys Res Commun 191: 1369-1372, 1993.

Hofman KJ, Tambor ES, Chase GA, Geller G, Faden RR, and Holtzman NA: Primary care physicians’ knowledge of genetics and genetics tests. Acad Med 68: 625-632, 1993.

Tambor ES, Chase GA, Faden RR, Geller G, Hofman KJ and Holtzman NA: Improving response rates through incentive and follow-up: the effect of a survey of physicians’ knowledge of genetics. Am J Publ Health 83: 1599-1603, 1993.

Geller G, Tambor ES, Bernhardt BA, Chase GA, Hofman KJ, Faden RR and Holtzman NA: Physicians’ Attitudes Toward Disclosure of Genetic Information to Third Parties. J Law Medicine and Ethics. 21:2: 238-240, 1993.

Geller G, Tambor ES, Chase GA, Hofman KJ, Faden RR and Holtzman NA: Incorporation of genetics into primary care practice. Will physicians do the counseling and will they be directive? Arch Fam Med, 2: 1119-1125,1993.

Hofman KJ: Diffusion of information about Neurofibromatosis type I DNA testing. Am J Med Genet 49: 299-301, 1994.

Faden RR, Tambor ES, Chase GA, Geller G, Hofman KJ, and Holtzman, NA: Attitudes of physicians and genetics professionals toward Cystic Fibrosis carrier screening. Am J Med Genet 50: 1-11,1994.

Hofman KJ, Harris EL, Bryan RN, and Denckla MB: Neurofibromatosis type 1: The cognitive phenotype. J Pediatr 124: S1-S8, 1994.

Itoh T, Magnaldi A, White RM, Denckla MB, Hofman KJ, Naidu S and Bryan RN: Neurofibromatosis type 1: the evolution of deep gray and white matter abnormalities. AJNR 15:1-7,1994.

Tambor, ES, Berhardt BA, Chase GA, Faden RR, Geller G, Hofman KJ, Holtzman NA: Offering Cystic Fibrosis Carrier Screening to an HMO Population: Factors Associated with Utilization. Am J Med Genet 55:626-637,1994.

Mazzocco MMM, Turner JE, Denckla MB, Hofman KJ, Scanlon DC and Vellutino FR. Language and reading deficits associated with Neurofibromatosis Type 1: Evidence for a not- so- verbal learning disability. Developmental Neuropsycholgy 11: 503-522,1995.

Rossiter JP, Hofman KJ, Kelley RI: Smith-Lemli-Opitz Syndrome: Prenatal Diagnosis by Detection of Cholesterol Precursors in Amniotic Fluid. Am J Med Genet 56: 272-275,1995.

Denckla MB, Hofman K, Mazzocco MM, Melhem E, Reiss AL, Bryan RN, Harris EL, Lee J, Cox CS, Schuerholz LJ: Relationship between T2-weighted hyperintensities (unidentified bright objects) and lower IQs in children with neurofibromatosis-1. Am J Med Genet. 67:(1): 98-102, 1996.

Bernhardt BA, Chase GA, Faden RR, Geller G, Hofman KJ, Tambor ES, Holtzman NA: Educating patients about cystic fibrosis carrier screening in a primary care setting. Arch Fam Med 5:336-340, 1996.

Denckla MB, Hofman KJ, Bryan RN, Reiss A, Harris EL, Melhem ME, Lee J, Cox CS, Sheurholtz LJ: Neurofibromatosis 1: Relationship between cognitive deficits and MRI findings in children. Am J Med Genet 67:98-102, 1996.

Hofman KJ and Wigton A. Consensus Statement on Screening for Developmental Disabilities in the Preschool Population. S Afr J Occ Therapy 27:15-18, 1997.

Hofman K. The Global Forum for Bioethics in Research: Report of a meeting, November 1999. Journal of the American Society of Law, Medicine and Ethics 28:174-175, 2000.

Loff B, Hofman KJ and Muthuswamy V. The Global Forum for Bioethics in Research: Report of a Meeting. Issues in Medical Ethics 2001 IX (2): 63-64, 2001.

Grady C, Ramjee G, Pape J, Hofman K and Speers M. Ethical and Legal Issues in Infectious Disease Research and Control. Emerging Infectious Diseases 7: Supplement, 2001.

Lavery JV, Upshur REG, Sharp RR, Hofman KJ. Ethical issues in international environmental health research. Int J Hyg Environ Health; 206 (45): 453-463, 2003.

Yach D, Hawkes C, Gould CL, Hofman KJ. The Global Burden of Chronic Diseases: Overcoming Impediments to Prevention and Control. JAMA 291 (21): 2616-2622, 2004.

Kupfer L, Hofman K, Jarawan R, McDermott J, Bridbord K. Strategies to discourage brain drain. Bull. WHO; 82(8): 616-623, 2004.

Hofman K, Primack A, Keusch G, and Hrynkow S. Addressing the Growing Burden of Trauma and Injury in Low- and Middle-Income Countries. Am J Public Health; 95 (1): 13-17. 2005.

Weatherall D, Hofman K, Rodgers G, Ruffin J and Hrynkow S. A Case for Developing North-South Partnerships for Research in Sickle Cell Disease. Blood; 105 (3): 921-923. 2005.

Katz FN and Hofman KJ. Enabling Genetics: Promise in the Developing World. Harvard International Review. Vol. XXVII (1): 38-42. 2005.

Michels KM, Hofman KJ, Keusch GT, Hrynkow SH. Stigma and Global Health: looking forward. The Lancet; 367; 538-539. 2006.

Hofman K, Ryce A, Prudhomme W, Kotzin S. Reporting of non- communicable disease research in the developing world: a pilot bibliometric analysis. J Med Libr Assoc; 94 (4): 415-420 2006.

Morahan PS, Diserens DF, Phil M, Richman RC, Primack A, Hofman KJ, and Hrynkow S. Women Health Scientists from Developing Countries: A Pilot Effort for Meeting their Career and Leadership Aspirations and Needs. Association of Women in Science Magazine Summer, 2006.

Madon T, Hofman KJ, Kupfer L, Glass RI. Public Health Implementation Science. Science. Dec 14; 318(5857):1728-9. 2007.

Hofman KJ, Kanyengo CW, Rapp BA, Kotzin, S. Mapping the health research landscape in Sub-Saharan Africa: a study of trends in biomedical publications. J Med Libr Assoc (In Press – 2009.)

Abstracts

Hofman KJ, Bernhardt B and Pyeritz RE: Increased incidence of neuropsychologic impairment in the Marfan syndrome. Am J Hum Genet 37: A4, 1985.

Gusella J, Tanzi R, Gibbons K, Faryniarz A, Bader P, Phelan M, Stevenson R, Hayden M and Hofman KJ: Mapping of the Huntington’s disease-linked G8 (D4S10) DNA marker to 4p16. Am J Hum Genet 37: A155, 1985.

Hofman KJ, Naidu S, Moser HW, Thomas GH and Maumenee IH: Cherry red spot in association with galactosylceramide-B-galactosidase deficiency. Ann Neurol 18: A398, 1985.

Hofman K and Valle D: Type I tyrosinemia with dysmorphic features. Successful therapy. Ped Res 20: 330A, 1986.

Hofman KJ, Valle D, Kazazian HH and Snyderman S: Haplotype analysis of the phenylalanine hydroxylase (PH) gene in U.S. blacks with phenylketonuria (PKU). Am J Hum Genet 41: A256, 1987.

Hofman KJ, Bernhardt B, Pyeritz RE: Neuropsychologic aspects of the Marfan Syndrome. Am J Med Genet 32: 241, 1989.

Charnas L, Hofman KJ and Rosenbaum KN: Crouzon Syndrome: Evidence of incomplete penetrance. Am J Hum Genet 45: A43, 1989.

Hayflick S, Hofman K, Tunnessen W, and Leventhal B: Recognition of Neuroblastoma in Neurofibromatosis (NF1). Neurofibromatosis Res Newsl 5 (104): 12, 1989. (Platform Presentation)

Hofman KJ, Boehm CD, Kazazian HH: Neurofibromatosis type I: Usefulness of prenatal and presymptomatic testing by DNA analysis. Am J Hum Genet 47: A220, 1990. (Poster presentation).

Hofman KJ, Bellmore H, Pfleuger S, Boehm CD: Prenatal diagnosis of NF 1 in a patient with an ambiguous diagnosis: diagnostic dilemma. Presented at Clinical Care Symposium, NNFF, San Francisco CA, Oct 1992.

Hofman KJ, Chase GA, Tambor ES, Geller G, Faden RR, and Holtzman NA: Primary care physicians’ knowledge of genetics: relevance to medical education. Am J Hum Genet 51: A3, 1992. (Plenary Session presentation)

Hofman KJ, Harris EL, Bryan RN, Denckla MB: Neurofibromatosis type I: The Cognitive Phenotype. Am J Hum Genet 53: A115, 1993.

Holtzman NA, Bernhardt BA, Chase GA, Faden RR, Geller G, Hofman KJ, Tambor ES: Increasing the convenience of cystic fibrosis (CF) carrier screening compromises scenee education. Am J Hum Genet 53: A47, 1993.

Bernhardt, BA, Chase GA, Faden RR, Geller G, Hofman KJ, Tambor ES, Holtzman NA: Interest and uptake of cystic fibrosis (CF) carrier screening in an HMO population. Am J Hum Genet 53: A1478, 1993.

Hofman KJ, Harris EL, Mohr J, Mazzocco MMM, Denckla MB: Specific Reading deficits associated with Neurofibromatosis type 1 (NF 1). Presented at International Neuropsychological Society, Cincinatti, OH, February 1994.

Braverman N, Lee R, Steele M, Hofman K: Tay syndrome associated with abnormal brain myelinization. Presented at American College of Medical Genetics Annual Meeting, March 1994.

Rossiter JP, Hofman KJ, Kelley RI: Detection of 7-dehydrocholesterol in amniotic fluid: A potential method for prenatal diagnosis of Smith-Lemli-Opitz syndrome. Presented at American College of Medical Genetics Annual Meeting, March 1994.

Denckla MB, Hofman KJ, Bryan RN, Reiss AL, Harris EL, Melham E, Lee J, Cox C and Scheurholz L. Evidence that cognitive deficits in NF1 are related to T2 weighted intensities on MRI. Neurology 44 (suppl 2); 1994.

Mott SH, Skyria PA, Baumardner TL, Reiss AL, Hofman K and Denckla MB. Neurofibromatosis type 1. Association between volumes of T2 weighted high intensity signals on MRI and impaired judgment of line orientation. Presented at the International Child Neurology Assn. San Francisco, October 1994. Pediatric Neurology 11(2):88, 1994.

Traboulsi EI, Klima KA, Hofman K, Maumenee IH. Ocular findings in 146 patients with Neurofibromatosis. An age dependent analysis. Presented at the American Academy of Ophthalmology annual meeting, October 1994.

MacCollin M, Braverman N, Siffert J, Hofman K, Gusella J and Parry D. Identical inactivating mutation in three children with Neurofibromatosis type 2. Presented at the Child Neurology meetings, 1995.

MacCollin M, Davis K, Jacoby L, Braverman N, Siffert J, Hofman K, Viskochil D, Gusella J and Parry D. The effect of genotype on phenotype in Neurofibromatosis type 2; Nonsense mutation in exon six, in four affected children. Presented at the NNFF International Consortium for Molecular Biology of NF1 and NF2. Philadelphia, July 1995.

Adnams C, Hofman K, Wigton A. Screening for developmental disabilities in the preschool population in South Africa. Presented at the AAMR Annual Meeting, New York, New York, May 1997.

Kupfer L, Bridbord K, McDermott J, Jarawan R Hofman K. Strategies to prevent brain drain. Presented at the Global Forum for Health Research, Forum 6, Arusha, Tanzania, November 2002.

Hofman K, Ryce A, Kotzin S. To What Extent is Non-Communicable, Chronic Disease Being Reported in Developing Country Medical Journals? Presented at the Global Forum for Health Research, Forum 8, Mexico City, Mexico, November 2004.

Hofman K, Kanyengo C, Kotzin S, Rapp B and Prudhomme W. Biomedical publication trends in sub-Saharan Africa (1995-2004): strengthening the culture of research to promote health. Presented at the Global Forum for Health Research, Forum 10, Cairo, Egypt, November 2006.

Katz F, Rosenthal J, Bridbord K, Hofman K, and Glass R. Non-traditional partnerships: Working across disciplinary and institutional boundaries. Presented at the Global Health Council Annual Meeting. Washington DC, June 2007.

posted October 2008