Literature DB >> 16909378

2005 William Allan Award address. No longer just looking under the lamppost.

Francis S Collins1.   

Abstract

Mesh:

Year:  2006        PMID: 16909378      PMCID: PMC1559549          DOI: 10.1086/507611

Source DB:  PubMed          Journal:  Am J Hum Genet        ISSN: 0002-9297            Impact factor:   11.025


× No keyword cloud information.
  15 in total

1.  A polymorphic DNA marker linked to cystic fibrosis is located on chromosome 7.

Authors:  R G Knowlton; O Cohen-Haguenauer; N Van Cong; J Frézal; V A Brown; D Barker; J C Braman; J W Schumm; L C Tsui; M Buchwald
Journal:  Nature       Date:  1985 Nov 28-Dec 4       Impact factor: 49.962

2.  A physical map of the human genome.

Authors:  J D McPherson; M Marra; L Hillier; R H Waterston; A Chinwalla; J Wallis; M Sekhon; K Wylie; E R Mardis; R K Wilson; R Fulton; T A Kucaba; C Wagner-McPherson; W B Barbazuk; S G Gregory; S J Humphray; L French; R S Evans; G Bethel; A Whittaker; J L Holden; O T McCann; A Dunham; C Soderlund; C E Scott; D R Bentley; G Schuler; H C Chen; W Jang; E D Green; J R Idol; V V Maduro; K T Montgomery; E Lee; A Miller; S Emerling; R Gibbs; S Scherer; J H Gorrell; E Sodergren; K Clerc-Blankenburg; P Tabor; S Naylor; D Garcia; P J de Jong; J J Catanese; N Nowak; K Osoegawa; S Qin; L Rowen; A Madan; M Dors; L Hood; B Trask; C Friedman; H Massa; V G Cheung; I R Kirsch; T Reid; R Yonescu; J Weissenbach; T Bruls; R Heilig; E Branscomb; A Olsen; N Doggett; J F Cheng; T Hawkins; R M Myers; J Shang; L Ramirez; J Schmutz; O Velasquez; K Dixon; N E Stone; D R Cox; D Haussler; W J Kent; T Furey; S Rogic; S Kennedy; S Jones; A Rosenthal; G Wen; M Schilhabel; G Gloeckner; G Nyakatura; R Siebert; B Schlegelberger; J Korenberg; X N Chen; A Fujiyama; M Hattori; A Toyoda; T Yada; H S Park; Y Sakaki; N Shimizu; S Asakawa; K Kawasaki; T Sasaki; A Shintani; A Shimizu; K Shibuya; J Kudoh; S Minoshima; J Ramser; P Seranski; C Hoff; A Poustka; R Reinhardt; H Lehrach
Journal:  Nature       Date:  2001-02-15       Impact factor: 49.962

3.  A polymorphic DNA marker genetically linked to Huntington's disease.

Authors:  J F Gusella; N S Wexler; P M Conneally; S L Naylor; M A Anderson; R E Tanzi; P C Watkins; K Ottina; M R Wallace; A Y Sakaguchi
Journal:  Nature       Date:  1983 Nov 17-23       Impact factor: 49.962

4.  Finishing the euchromatic sequence of the human genome.

Authors: 
Journal:  Nature       Date:  2004-10-21       Impact factor: 49.962

5.  Recurrent de novo point mutations in lamin A cause Hutchinson-Gilford progeria syndrome.

Authors:  Maria Eriksson; W Ted Brown; Leslie B Gordon; Michael W Glynn; Joel Singer; Laura Scott; Michael R Erdos; Christiane M Robbins; Tracy Y Moses; Peter Berglund; Amalia Dutra; Evgenia Pak; Sandra Durkin; Antonei B Csoka; Michael Boehnke; Thomas W Glover; Francis S Collins
Journal:  Nature       Date:  2003-04-25       Impact factor: 49.962

Review 6.  Construction of a genetic linkage map in man using restriction fragment length polymorphisms.

Authors:  D Botstein; R L White; M Skolnick; R W Davis
Journal:  Am J Hum Genet       Date:  1980-05       Impact factor: 11.025

7.  Identification of the cystic fibrosis gene: chromosome walking and jumping.

Authors:  J M Rommens; M C Iannuzzi; B Kerem; M L Drumm; G Melmer; M Dean; R Rozmahel; J L Cole; D Kennedy; N Hidaka
Journal:  Science       Date:  1989-09-08       Impact factor: 47.728

8.  Accumulation of mutant lamin A causes progressive changes in nuclear architecture in Hutchinson-Gilford progeria syndrome.

Authors:  Robert D Goldman; Dale K Shumaker; Michael R Erdos; Maria Eriksson; Anne E Goldman; Leslie B Gordon; Yosef Gruenbaum; Satya Khuon; Melissa Mendez; Renée Varga; Francis S Collins
Journal:  Proc Natl Acad Sci U S A       Date:  2004-06-07       Impact factor: 11.205

9.  A common polymorphism in the upstream promoter region of the hepatocyte nuclear factor-4 alpha gene on chromosome 20q is associated with type 2 diabetes and appears to contribute to the evidence for linkage in an ashkenazi jewish population.

Authors:  Latisha D Love-Gregory; Jonathon Wasson; Jiyan Ma; Carol H Jin; Benjamin Glaser; Brian K Suarez; M Alan Permutt
Journal:  Diabetes       Date:  2004-04       Impact factor: 9.461

10.  Genetic variation near the hepatocyte nuclear factor-4 alpha gene predicts susceptibility to type 2 diabetes.

Authors:  Kaisa Silander; Karen L Mohlke; Laura J Scott; Erin C Peck; Pablo Hollstein; Andrew D Skol; Anne U Jackson; Panagiotis Deloukas; Sarah Hunt; George Stavrides; Peter S Chines; Michael R Erdos; Narisu Narisu; Karen N Conneely; Chun Li; Tasha E Fingerlin; Sharanjeet K Dhanjal; Timo T Valle; Richard N Bergman; Jaakko Tuomilehto; Richard M Watanabe; Michael Boehnke; Francis S Collins
Journal:  Diabetes       Date:  2004-04       Impact factor: 9.461

View more
  5 in total

1.  Using lifetime risk estimates in personal genomic profiles: estimation of uncertainty.

Authors:  Quanhe Yang; W Dana Flanders; Ramal Moonesinghe; John P A Ioannidis; Idris Guessous; Muin J Khoury
Journal:  Am J Hum Genet       Date:  2009-12       Impact factor: 11.025

Review 2.  Finding the missing heritability of complex diseases.

Authors:  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
Journal:  Nature       Date:  2009-10-08       Impact factor: 49.962

Review 3.  Legacies of Garrod's brilliance. One hundred years--and counting.

Authors:  L E Rosenberg
Journal:  J Inherit Metab Dis       Date:  2008-10-05       Impact factor: 4.982

Review 4.  Uncovering Missing Heritability in Rare Diseases.

Authors:  Tatiana Maroilley; Maja Tarailo-Graovac
Journal:  Genes (Basel)       Date:  2019-04-04       Impact factor: 4.096

5.  2022: a pivotal year for diagnosis and treatment of rare genetic diseases.

Authors:  Stephen F Kingsmore
Journal:  Cold Spring Harb Mol Case Stud       Date:  2022-03-24
  5 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.