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Alan E. Guttmacher, M.D.
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.
Last Updated: September 25, 2008
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