HomeAbout NHGRIAbout the Office of the DirectorActing Director Alan Guttmacher Guttmacher Publications

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Alan E. Guttmacher, M.D.

Deputy Director, National Human Genome Research Institute
Director, Office of Policy, Communications and Education

Selected Publications

Shovlin CL, Guttmacher AE, Buscarini E, Faughan ME, Hyland RH, Westermann CJJ, Kjeldsen AD, Plauchu H. Diagnostic Criteria for hereditary hemorrhagic telangiectasia (Rendu-Osler-Weber syndrome). Amer J Med Genetics, 91:66-67. 2000. [PubMed]

Guttmacher AE. A piece of my mind: twenty lessons from the heart of medicine. JAMA, 284:1486-1487. 2000. [PubMed]

Guttmacher AE, Collins FS. Genetics resources on the web (GROW). Genetics in Medicine, 2:296-299. 2000.

Guttmacher AE. Human genetics on the web. Annu Rev Genomics Hum Genet, 2:213-233. 2001. [PubMed]

Collins FS, Guttmacher AE. Genetics moves into the medical mainstream. JAMA, 286: 2322-2324. 2001. [PubMed]

Guttmacher AE, Jenkins J, Uhlmann W R. Genomic medicine: who will practice it? A call to open arms. Amer J Med Genetics, 106:216-222. 2001.[PubMed]

Innis JW, Goodman FR, Bacchelli C, Williams TM, Mortlock DP, Sateesh P, Scambler PJ, McKinnon W, Guttmacher AE. A HOXA13 allele with a missense mutation in the homeobox and a dinucleotide deletion in the promoter underlies Guttmacher syndrome. Hum Mutat, 19:573-574. 2002. [PubMed]

Guttmacher AE, Collins FS. Genomic Medicine - A Primer. New Eng J Med, 347:1512-1521. 2002. [PubMed]

Collins FC, Green ED, Guttmacher AE, Guyer MS. A vision for the future of genomics research. Nature, 422:835-847. 2003. [PubMed]

Berg J, Porteous M, Reinhardt D, Gallione C, Holloway S, Umasunthar T, Lux A, McKinnon C, Marchuk D, Guttmacher A. Hereditary haemorrhagic telangiectasia: a questionnaire based study to delineate the different phenotypes caused by endoglin and Alk 1 mutations. J Med Genet, 40:1-6. 2003. [PubMed]

Guttmacher A.E., Collins F.S. Welcome to the genomic era. New Eng J Med, 349:996-8. 2003. [PubMed]

Guttmacher A.E, Collins F.S., Carmona R.H. The Family History: More Important Than Ever. New Eng J Med, 351:2333-2336. 2004. [PubMed]

Guttmacher A.E, Collins, F.S. Realizing the promise of genomics for biomedical research. JAMA, 294(11):1399-402. 2005. [PubMed]

Guttmacher, A.E., Porteous, M.E., McInerney, J.D. Educating health care professionals about genetics and genomics. Nat Rev Genet, 2007. [PubMed]

Guttmacher A.E, Ullman W.R., Key Internet Genetics Resources for the Clinician. JAMA, 299(11):1356-1358. 2008. [Full Text].

Guttmacher A.E, Collins, F.S., Feero, W. G., The Genome Gets Personal - Almost. JAMA, 299(11):1351-1352. 2008. [Full Text]

Books

Guttmacher, A.E., Collins, F.S., Drazen, J.M., eds. Genomic Medicine: Articles from the New England Journal of Medicine. Johns Hopkins University Press, Baltimore, Md. 2004.

Guttmacher, A.E. "Breaking the news:" Talking with parents about their child's birth defect or genetic condition. Nursing Care in the Genomic Era. Jenkins, J.F., Lea, D.H. Jones and Bartlett Publishers, pp. 167-173. 2005.

Guttmacher, A.E, Marchuk, D.A., Pyeritz, R.E. Hereditary hemorrhagic telangiectasia (Osler-Weber-Rendu syndrome). Emory and Rimoin's Principles and practice of Medical Genetics. Churchill Livingstone Elsevier, Fifth Edition, pp. 1200-1213. 2007.

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Last Updated: March 26, 2008