Physician

Medical Genetics

Alan Guttmacher works in the field of Medical Genetics. He studied medicine at Harvard Medical School. Harvard Medical School is one of the top medical schools in the US. Harvard Medical School has a rank of 1 in research and a 12 in primary care He over the years received 3 awards: "Elected Member", "Whos Who in Medicine and Healthcare" and "Fellow (FAAP)". Alan Guttmacher is also a published doctor. He has 63 paper published. The most recent paper is: Confirmation of linkage of Clouston syndrome (hidrotic ectodermal dysplasia) to 13q11-q12.1 with evidence for multiple independent mutations.

Publications

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• The child is father of the man, and mother of the woman.
• The National Children's Study--a proposed plan.
• Ending preventable child death in a generation.
• We don't know what we don't study: The case for research on medication effects in pregnancy.
• National Children's Study: update in 2010.
• Genomic medicine--an updated primer.
• Why data-sharing policies matter.
• Commentary: trailblazing a research agenda at the interface of pediatrics and genomic discovery--a commentary on the psychological aspects of genomics and child health.
• Key Internet genetics resources for the clinician.
• The genome gets personal--almost.
• Validity of reported genetic risk factors for acute coronary syndrome.
• Realizing the promise of genomics in biomedical research.
• Molecular and clinical analyses of Greig cephalopolysyndactyly and Pallister-Hall syndromes: robust phenotype prediction from the type and position of GLI3 mutations.
• The family history--more important than ever.
• Welcome to the genomic era.
• Psychologists' contributions to the genetic revolution.
• Genomic medicine--a primer.
• A HOXA13 allele with a missense mutation in the homeobox and a dinucleotide deletion in the promoter underlies Guttmacher syndrome.
• Genetic testing and psychology. New roles, new responsibilities.
• Clinical heterogeneity in hereditary haemorrhagic telangiectasia: are pulmonary arteriovenous malformations more common in families linked to endoglin?
• Clouston syndrome (hidrotic ectodermal dysplasia) is not linked to keratin gene clusters on chromosomes 12 and 17.
• A unique point mutation in the fibroblast growth factor receptor 3 gene (FGFR3) defines a new craniosynostosis syndrome.
• Autosomal dominant postaxial polydactyly, nail dystrophy, and dental abnormalities map to chromosome 4p16, in the region containing the Ellis-van Creveld syndrome locus.
• Report on the workshop on Hereditary Hemorrhagic Telangiectasia, July 10-11, 1997.
• Quantitative DNA pooling to increase the efficiency of linkage analysis in autosomal dominant disease.
• Mutation and expression analysis of the endoglin gene in hereditary hemorrhagic telangiectasia reveals null alleles.
• Confirmation of linkage of Clouston syndrome (hidrotic ectodermal dysplasia) to 13q11-q12.1 with evidence for multiple independent mutations.
• Genetic medicine in the next five years.
• Endoglin expression is reduced in normal vessels but still detectable in arteriovenous malformations of patients with hereditary hemorrhagic telangiectasia type 1.
• Did Robert Louis Stevenson have hereditary hemorrhagic telangiectasia?
• Diagnostic criteria for hereditary hemorrhagic telangiectasia (Rendu-Osler-Weber syndrome).
• A piece of my mind: twenty lessons from the heart of medicine.
• Human genetics on the web.
• Scanning for telomeric deletions and duplications and uniparental disomy using genetic markers in 120 children with malformations.
• Genetics moves into the medical mainstream.
• Genomic medicine: who will practice it? A call to open arms.
• Hereditary haemorrhagic telangiectasia: a questionnaire based study to delineate the different phenotypes caused by endoglin and ALK1 mutations.
• Current status of the National Children's Study.
• International network of cancer genome projects.
• New models of collaboration in genome-wide association studies: the Genetic Association Information Network.
• Task Force on Strategic Research Direction: Clinical Science Subgroup key science topics report.
• Genetic test evaluation: information needs of clinicians, policy makers, and the public.
• Geneticist to head NICHD. Interview by Deborah Levenson.
• Realizing genomic medicine.
• Finding the missing heritability of complex diseases.
• Personalized genomic information: preparing for the future of genetic medicine.
• International guidelines for the diagnosis and management of hereditary haemorrhagic telangiectasia.
• Educating health-care professionals about genetics and genomics.
• Replicating genotype-phenotype associations.
• A vision for the future of genomics research.
• Hereditary dysautonomias: current knowledge and collaborations for the future.
• Possible common pathogenetic mechanisms for Poland sequence and Adams-Oliver syndrome: an additional clinical observation.
• Chromosome 7p--syndrome: craniosynostosis with preservation of region 7p2.
• Possible common pathogenetic mechanisms for Poland sequence and Adams-Oliver syndrome.
• Preconceptional family health evaluation: bringing clinical genetics education to New England family planning patients.
• Hereditary hemorrhagic telangiectasia.
• Hereditary hemorrhagic telangiectasia: a disorder in search of the genetics community.
• Genetic heterogeneity in hereditary haemorrhagic telangiectasia: possible correlation with clinical phenotype.
• Educating the medical community through a teratology newsletter.
• Autosomal dominant preaxial deficiency, postaxial polydactyly, and hypospadias.
• Six novel mutations in the endoglin gene in hereditary hemorrhagic telangiectasia type 1 suggest a dominant-negative effect of receptor function.
• Mutations in the activin receptor-like kinase 1 gene in hereditary haemorrhagic telangiectasia type 2.

Schools

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• Harvard Medical School

Doctors Specialties

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• Clinical Genetics
• Pediatrics
• Medical Genetics

Accepted Insurances

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Awards

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• Elected Member
• Whos Who in Medicine and Healthcare
• Fellow (FAAP)

Education

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• Boston Children's Hospital
• Harvard Medical School

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