A
Alan E. Guttmacher
Researcher at National Institutes of Health
Publications - 77
Citations - 23233
Alan E. Guttmacher is an academic researcher from National Institutes of Health. The author has contributed to research in topics: Genomics & Health care. The author has an hindex of 41, co-authored 76 publications receiving 21763 citations. Previous affiliations of Alan E. Guttmacher include University of Pennsylvania & University of Vermont.
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Journal ArticleDOI
Finding the missing heritability of complex diseases
Teri A. Manolio,Francis S. Collins,Nancy J. Cox,David 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,Leonid Kruglyak,Elaine R. 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 +27 more
TL;DR: This paper examined potential sources of missing heritability and proposed research strategies, including and extending beyond current genome-wide association approaches, to illuminate the genetics of complex diseases and enhance its potential to enable effective disease prevention or treatment.
Journal ArticleDOI
International network of cancer genome projects
Thomas J. Hudson,Thomas J. Hudson,Warwick Anderson,Axel Aretz,Anna D. Barker,Cindy Bell,Rosa R. Bernabé,Maharaj K. Bhan,Fabien Calvo,Iiro Eerola,Daniela S. Gerhard,Alan E. Guttmacher,Mark S. Guyer,Fiona M. Hemsley,Jennifer L. Jennings,David J. Kerr,Peter Klatt,Patrik Kolar,Jun Kusuda,David P. Lane,Frank Laplace,Youyong Lu,Gerd Nettekoven,Brad Ozenberger,Jane Peterson,T. S. Rao,Jacques Remacle,Alan J. Schafer,Tatsuhiro Shibata,Michael R. Stratton,Joseph G. Vockley,Koichi Watanabe,Huanming Yang,Matthew Ming Fai Yuen,Bartha Maria Knoppers,Martin Bobrow,Anne Cambon-Thomsen,Lynn G. Dressler,Stephanie O.M. Dyke,Yann Joly,Kazuto Kato,Karen Kennedy,Pilar Nicolás,Michael Parker,Emmanuelle Rial-Sebbag,Carlos M. Romeo-Casabona,Kenna M. Shaw,Susan E. Wallace,Georgia L. Wiesner,Nikolajs Zeps,Peter Lichter,Andrew V. Biankin,Andrew V. Biankin,Christian Chabannon,Lynda Chin,Bruno Clément,Enrique de Alava,Françoise Degos,Martin L. Ferguson,Peter Geary,D. Neil Hayes,Amber L. Johns,Arek Kasprzyk,Hidewaki Nakagawa,Robert Penny,Miguel A. Piris,Rajiv Sarin,Aldo Scarpa,Marc J. van de Vijver,Marc J. van de Vijver,P. Andrew Futreal,Hiroyuki Aburatani,Mònica Bayés,David D.L. Bowtell,David D.L. Bowtell,Peter J. Campbel,Peter J. Campbel,Xavier Estivill,Sean M. Grimmond,Ivo Gut,Martin Hirst,Carlos López-Otý́n,Partha P. Majumder,Marco A. Marra,John Douglas Mcpherson,John Douglas Mcpherson,Zemin Ning,Xose S. Puente,Yijun Ruan,Hendrik G. Stunnenberg,Harold Swerdlow,Victor E. Velculescu,Richard K. Wilson,Hong Xue,Liu Yang,Paul T. Spellman,Gary D. Bader,Paul C. Boutros,Paul Flicek,Gad Getz,Roderic Guigó,Guangwu Guo,David Haussler,Simon Heath,Tim Hubbard,Tao Jiang,Steven J. M. Jones,Qibin Li,Nuria Lopez-Bigas,Ruibang Luo,Lakshmi Muthuswamy,B. F. Francis Ouellette,John V. Pearson,Víctor Quesada,Benjamin J. Raphael,Chris Sander,Terence P. Speed,Terence P. Speed,Lincoln Stein,Joshua M. Stuart,Jon W. Teague,Yasushi Totoki,Tatsuhiko Tsunoda,Alfonso Valencia,David A. Wheeler,Honglong Wu,Shancen Zhao,Guangyu Zhou,Mark Lathrop,Gilles Thomas,Teruhiko Yoshida,Myles Axton,Chris Gunter,Linda Miller,Junjun Zhang,Syed Haider,Jianxin Wang,Christina K. Yung,Anthony Cross,Yong Liang,Saravanamuttu Gnaneshan,Jonathan M. Guberman,Jack Hsu,Don Chalmers,Karl W. Hasel,Terry Sheung-Hung Kaan,William W. Lowrance,Tohru Masui,Laura Lyman Rodriguez,Catherine Vergely,David D.L. Bowtel,Nicole Cloonan,Anna deFazio,Anna deFazio,James R. Eshleman,Dariush Etemadmoghadam,Dariush Etemadmoghadam,Brooke A. Gardiner,James G. Kench,James G. Kench,Robert L. Sutherland,Margaret A. Tempero,Nicola Waddell,Peter Wilson,Steve Gallinger,Steve Gallinger,Ming-Sound Tsao,Ming-Sound Tsao,Patricia Shaw,Gloria M. Petersen,Debabrata Mukhopadhyay,Ronald A. DePinho,Sarah P. Thayer,Kamran Shazand,Timothy Beck,Michelle Sam,Lee Timms,Vanessa Ballin,Jiafu Ji,Xiuqing Zhang,Feng Chen,Xueda Hu,Qi Yang,Geng Tian,Lianhai Zhang,Xiaofang Xing,Xianghong Li,Zhenggang Zhu,Yingyan Yu,Jun Yu,Jörg Tost,Paul Brennan,Ivana Holcatova,David Zaridze,Alvis Brazma,Lars Egevad,Egor Prokhortchouk,Rosamonde E. Banks,Mathias Uhlén,Juris Viksna,Fredrik Pontén,Konstantin G. Skryabin,P. Andrew Futrea,Ewan Birney,Åke Borg,Anne Lise Børresen-Dale,Carlos Caldas,John A. Foekens,Sancha Martin,Jorge S. Reis-Filho,Andrea L. Richardson,Christos Sotiriou,Laura van 't Veer,Daniel Birnbaum,Hélène Blanché,Pascal Boucher,Sandrine Boyault,Jocelyne D. Masson-Jacquemier,Iris Pauporté,Xavier Pivot,Anne Vincent-Salomon,Eric Tabone,Charles Theillet,Isabelle Treilleux,Paulette Bioulac-Sage,Thomas Decaens,Franc OiseDegos,Dominique Franco,Gut M,Didier Samuel,Jessica Zucman-Rossi,Roland Eils,Roland Eils,Benedikt Brors,Jan O. Korbe,Andrey Korshunov,Pablo Landgraf,Hans Lehrach,Stefan M. Pfister,Stefan M. Pfister,Bernhard Radlwimmer,Guido Reifenberger,Michael D. Taylor,Christof von Kalle,Partha P. Majumder,Paolo Pederzoli,Rita T. Lawlor,Massimo Delledonne,Alberto Bardelli,Thomas M. Gress,David S. Klimstra,Giuseppe Zamboni,Yusuke Nakamura,Satoru Miyano,Akihiro Fujimoto,Elias Campo,Silvia de Sanjosé,Emili Montserrat,Marcos González-Dý́az,Pedro Jares,Heinz Himmelbaue,Sílvia Beà,Samuel Aparicio,Douglas F. Easton,Francis S. Collins,Carolyn C. Compton,Eric S. Lander,Wylie Burke,Anthony R. Green,Stanley R. Hamilton,Olli Kallioniemi,Timothy J. Ley,Edison T. Liu,Brandon J. Wainwright +273 more
TL;DR: Systematic studies of more than 25,000 cancer genomes will reveal the repertoire of oncogenic mutations, uncover traces of the mutagenic influences, define clinically relevant subtypes for prognosis and therapeutic management, and enable the development of new cancer therapies.
Journal ArticleDOI
A vision for the future of genomics research
TL;DR: The Human Genome Project (HGP) as mentioned in this paper was the first attempt to obtain a high-quality, comprehensive sequence of the human genome, in this fiftieth anniversary year of the discovery of the double-helical structure of DNA.
Journal ArticleDOI
Diagnostic criteria for hereditary hemorrhagic telangiectasia (Rendu-Osler-Weber syndrome).
Claire L. Shovlin,Alan E. Guttmacher,Elisabetta Buscarini,Marie E. Faughnan,Robert H. Hyland,C.J.J. Westermann,Anette Drøhse Kjeldsen,Henri Plauchu +7 more
TL;DR: A diagnosis of HHT cannot be established in patients with only two criteria, but should be recorded as possible or suspected to maintain a high index of clinical suspicion and to be considered at risk in view of age-related penetration in this disorder.
Journal ArticleDOI
Replicating genotype–phenotype associations
Stephen J. Chanock,Teri A. Manolio,Michael Boehnke,Eric Boerwinkle,David J. Hunter,Gilles Thomas,Joel N. Hirschhorn,Gonçalo R. Abecasis,David Altshuler,Joan E. Bailey-Wilson,Lisa D. Brooks,Lon R. Cardon,Mark J. Daly,Peter Donnelly,Joseph F. Fraumeni,Nelson B. Freimer,Daniela S. Gerhard,Chris Gunter,Alan E. Guttmacher,Mark S. Guyer,Emily L. Harris,Josephine Hoh,Robert N. Hoover,C. Augustine Kong,Kathleen R. Merikangas,Cynthia C. Morton,Lyle J. Palmer,Elizabeth G. Phimister,John P. Rice,Jerry Roberts,Charles N. Rotimi,Margaret A. Tucker,Kyle Vogan,Sholom Wacholder,Ellen M. Wijsman,Deborah M. Winn,Francis S. Collins +36 more
TL;DR: What constitutes replication of a genotype–phenotype association, and how best can it be achieved, is investigated.