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Alan Guttmacher

Research Profile

Disorders

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Pedigree

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Physiology

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Chromosomes, Human, Pair 9

Genes & Molecular Sequences

Dominant Genes

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TOP 3
Teri A Manolio; Francis S Collins; Nancy J Cox; David B Goldstein; Lucia A Hindorff; David J Hunter; Mark I McCarthy; Erin M Ramos; Lon R Cardon; Aravinda Chakravarti; Judy H Cho; Alan E Guttmacher; Augustine Kong; Leonid Kruglyak; Elaine Mardis; Charles N Rotimi; Montgomery Slatkin; David Valle; Alice S Whittemore; Michael Boehnke; Andrew G Clark; Evan E Eichler; Greg Gibson; Jonathan L Haines; Trudy F C Mackay; Steven A McCarroll; Peter M Visscher
Finding the missing heritability of complex diseases.
Alan E Guttmacher; Elizabeth G Nabel; Francis S Collins
Why data-sharing policies matter.
Colleen M McBride; Alan E Guttmacher
Commentary: trailblazing a research agenda at the interface of pediatrics and genomic discovery--a commentary on the psychological aspects of genomics and child health.

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All Publications

2009: Teri A Manolio; Francis S Collins; Nancy J Cox; David B Goldstein; Lucia A Hindorff; David J Hunter; Mark I McCarthy; Erin M Ramos; Lon R Cardon; Aravinda Chakravarti; Judy H Cho; Alan E Guttmacher; Augustine Kong; Leonid Kruglyak; Elaine Mardis; Charles N Rotimi; Montgomery Slatkin; David Valle; Alice S Whittemore; Michael Boehnke; Andrew G Clark; Evan E Eichler; Greg Gibson; Jonathan L Haines; Trudy F C Mackay; Steven A McCarroll; Peter M Visscher
Finding the missing heritability of complex diseases.
Nature 2009;461(7265):747-53.
2009: Alan E Guttmacher; Elizabeth G Nabel; Francis S Collins
Why data-sharing policies matter.
Proceedings of the National Academy of Sciences of the United States of America 2009;106(40):16894.
2009: Colleen M McBride; Alan E Guttmacher
Commentary: trailblazing a research agenda at the interface of pediatrics and genomic discovery--a commentary on the psychological aspects of genomics and child health.
Journal of pediatric psychology 2009;34(6):662-4.
2008: Wendy R Uhlmann; Alan E Guttmacher
Key Internet genetics resources for the clinician.
JAMA : the journal of the American Medical Association 2008;299(11):1356-8.
2008: William G. Feero; Alan E Guttmacher; Francis S Collins
The genome gets personal--almost.
JAMA : the journal of the American Medical Association 2008;299(11):1351-2.
2007: William G. Feero; Teri A Manolio; Alan E Guttmacher; Francis S Collins
Validity of reported genetic risk factors for acute coronary syndrome.
JAMA : the journal of the American Medical Association 2007;298(15):1757; author reply 1759.
2007: Alan E Guttmacher; Mary E Porteous; JOSEPH MCINERNEY
Educating health-care professionals about genetics and genomics.
Nature reviews. Genetics 2007;8(2):151-7.
2005: Alan E Guttmacher; Francis S Collins
Realizing the promise of genomics in biomedical research.
JAMA : the journal of the American Medical Association 2005;294(11):1399-402.
2004: Alan E Guttmacher; Francis S Collins; Richard H Carmona
The family history--more important than ever.
The New England journal of medicine 2004;351(22):2333-6.
2003: Alan E Guttmacher; Francis S Collins
Welcome to the genomic era.
The New England journal of medicine 2003;349(10):996-8.
2003: J Berg; M E M Porteous; D Reinhardt; Carol J Gallione; S Holloway; T Umasunthar; A Lux; W McKinnon; Douglas A Marchuk; Alan E Guttmacher
Hereditary haemorrhagic telangiectasia: a questionnaire based study to delineate the different phenotypes caused by endoglin and ALK1 mutations.
Journal of medical genetics 2003;40(8):585-90.
2003: Math P Cuajungco; Yukio Ando; Felicia B Axelrod; Italo Biaggioni; David S Goldstein; Alan E Guttmacher; Katrina Gwinn-Hardy; Maureen K Hahn; Max J Hilz; Giris Jacob; Jordan Jens; William R Kennedy; Stephen B Liggett; Daniel O'Connor; Sonia R Peltzer; David Robertson; Berish Y Rubin; Quandra Scudder; Linda J Smith; Gail E Sonenshein; Jesper Q Svejstrup; Yang Xu; Susan A Slaugenhaupt
Hereditary dysautonomias: current knowledge and collaborations for the future.
Clinical autonomic research : official journal of the Clinical Autonomic Research Society 2003;13(3):180-95.
2003: Francis S Collins; Eric Green; Alan E Guttmacher; Mark S Guyer
A vision for the future of genomics research.
Nature 2003;422(6934):835-47.
2003: Andrea Farkas Patenaude; Alan E Guttmacher; Francis S Collins
Psychologists' contributions to the genetic revolution.
The American psychologist 2003;58(4):319-20.
2002: Alan E Guttmacher; Francis S Collins
Genomic medicine--a primer.
The New England journal of medicine 2002;347(19):1512-20.
2002: Jeffrey W Innis; Frances R Goodman; Chiara Bacchelli; Thomas M Williams; Douglas P Mortlock; Praveen Sateesh; Peter J Scambler; Wendy McKinnon; Alan E Guttmacher
A HOXA13 allele with a missense mutation in the homeobox and a dinucleotide deletion in the promoter underlies Guttmacher syndrome.
Human mutation 2002;19(5):573-4.
2002: Andrea Farkas Patenaude; Alan E Guttmacher; Francis S Collins
Genetic testing and psychology. New roles, new responsibilities.
The American psychologist 2002;57(4):271-82.
2001: Marjorie J Rosenberg; Christina Killoran; L Dziadzio; S Chang; DL Stone; Jeanne M Meck; David J Aughton; L M Bird; J Bodurtha; S B Cassidy; J M Graham; A Grix; Alan E Guttmacher; Louanne Hudgins; Chahira Kozma; R C Michaelis; R Pauli; Kathryn F Peters; Kenneth N Rosenbaum; Cynthia J Tifft; DS Wargowski; M S Williams; Leslie G Biesecker
Scanning for telomeric deletions and duplications and uniparental disomy using genetic markers in 120 children with malformations.
Human genetics 2001;109(3):311-8.
2001: Alan E Guttmacher
Human genetics on the web.
Annual review of genomics and human genetics 2001;2():213-33.
2000: Claire L Shovlin; Alan E Guttmacher; Elisabetta Buscarini; Marie E Faughnan; Robert H Hyland; Cornelius J J Westermann; A D Kjeldsen; Henri Plauchu
Diagnostic criteria for hereditary hemorrhagic telangiectasia (Rendu-Osler-Weber syndrome).
American journal of medical genetics 2000;91(1):66-7.
1999: Alan E Guttmacher
Genetic medicine in the next five years.
Health progress (Saint Louis, Mo.) 1999;80(5):43-5, 48.
1998: T D Taylor; Susan J Hayflick; Wendy McKinnon; Alan E Guttmacher; A Hovnanian; M Litt; Jonathan (Jon) Zonana
Confirmation of linkage of Clouston syndrome (hidrotic ectodermal dysplasia) to 13q11-q12.1 with evidence for multiple independent mutations.
The Journal of investigative dermatology 1998;111(1):83-5.
1998: Douglas A Marchuk; Alan E Guttmacher; J A Penner; P Ganguly
Report on the workshop on Hereditary Hemorrhagic Telangiectasia, July 10-11, 1997.
American journal of medical genetics 1998;76(3):269-73.
1998: Karim F Damji; Carol J Gallione; R Rand Allingham; BD Slotterbeck; Alan E Guttmacher; K A Pasyk; Jeffery Vance; Margaret Pericak-Vance; Marcy C Speer; Douglas A Marchuk
Quantitative DNA pooling to increase the efficiency of linkage analysis in autosomal dominant disease.
Human genetics 1998;102(2):207-12.
1998: Carol J Gallione; D J Klaus; E Y Yeh; Timothy T Stenzel; Y Xue; K B Anthony; K A McAllister; M A Baldwin; Jonathan N Berg; Andreas Lux; joshua smith; Calvin P H Vary; W J Craigen; Cornelius J J Westermann; M L Warner; Y E Miller; Charles E Jackson; Alan E Guttmacher; Douglas A Marchuk
Mutation and expression analysis of the endoglin gene in hereditary hemorrhagic telangiectasia reveals null alleles.
Human mutation 1998;11(4):286-94.
1997: Timothy Howard; Alan E Guttmacher; Wendy McKinnon; M Sharma; Victor A McKusick; Ethylin Jabs
Autosomal dominant postaxial polydactyly, nail dystrophy, and dental abnormalities map to chromosome 4p16, in the region containing the Ellis-van Creveld syndrome locus.
American journal of human genetics 1997;61(6):1405-12.
1996: Susan J Hayflick; T Taylor; Wendy McKinnon; Alan E Guttmacher; M Litt; Jonathan (Jon) Zonana
Clouston syndrome (hidrotic ectodermal dysplasia) is not linked to keratin gene clusters on chromosomes 12 and 17.
The Journal of investigative dermatology 1996;107(1):11-4.
1996: D W Johnson; Jonathan N Berg; M A Baldwin; Carol J Gallione; I Marondel; S J Yoon; Timothy T Stenzel; M Speer; Margaret Pericak-Vance; A Diamond; Alan E Guttmacher; Charles E Jackson; L Attisano; Raju Kucherlapati; M E M Porteous; Douglas A Marchuk
Mutations in the activin receptor-like kinase 1 gene in hereditary haemorrhagic telangiectasia type 2.
Nature genetics 1996;13(2):189-95.
1996: Jonathan N Berg; Alan E Guttmacher; Douglas A Marchuk; M E M Porteous
Clinical heterogeneity in hereditary haemorrhagic telangiectasia: are pulmonary arteriovenous malformations more common in families linked to endoglin?
Journal of medical genetics 1996;33(3):256-7.
1995: Alan E Guttmacher; Douglas A Marchuk; R I White
Hereditary hemorrhagic telangiectasia.
The New England journal of medicine 1995;333(14):918-24.
1995: K A McAllister; M A Baldwin; A K Thukkani; Carol J Gallione; Jonathan N Berg; M E M Porteous; Alan E Guttmacher; Douglas A Marchuk
Six novel mutations in the endoglin gene in hereditary hemorrhagic telangiectasia type 1 suggest a dominant-negative effect of receptor function.
Human molecular genetics 1995;4(10):1983-5.
1994: K A McAllister; F Lennon; B Bowles-Biesecker; Wendy McKinnon; E A Helmbold; Dorene S Markel; Charles E Jackson; Alan E Guttmacher; Margaret Pericak-Vance; Douglas A Marchuk
Genetic heterogeneity in hereditary haemorrhagic telangiectasia: possible correlation with clinical phenotype.
Journal of medical genetics 1994;31(12):927-32.
1994: Alan E Guttmacher; Wendy McKinnon; M D Upton
Hereditary hemorrhagic telangiectasia: a disorder in search of the genetics community.
American journal of medical genetics 1994;52(2):252-3.
1993: Alan E Guttmacher
Autosomal dominant preaxial deficiency, postaxial polydactyly, and hypospadias.
American journal of medical genetics 1993;46(2):219-22.