Literature DB >> 23129594

The new world of clinical genomics.

Leslie G Biesecker.   

Abstract

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Year:  2012        PMID： 23129594      PMCID： PMC3485590          DOI： 10.1210/jc.2012-3288

Source DB:  PubMed          Journal:  J Clin Endocrinol Metab        ISSN： 0021-972X            Impact factor:   5.958


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  9 in total

Review 1.  "Are we there yet?": Deciding when one has demonstrated specific genetic causation in complex diseases and quantitative traits.

Authors:  Grier P Page; Varghese George; Rodney C Go; Patricia Z Page; David B Allison
Journal:  Am J Hum Genet       Date:  2003-09-17       Impact factor: 11.025

Review 2.  The impact of next-generation sequencing technology on genetics.

Authors:  Elaine R Mardis
Journal:  Trends Genet       Date:  2008-02-11       Impact factor: 11.639

3.  Exome sequencing makes medical genomics a reality.

Authors:  Leslie G Biesecker
Journal:  Nat Genet       Date:  2010-01       Impact factor: 38.330

Review 4.  Sequence-based identification of microbial pathogens: a reconsideration of Koch's postulates.

Authors:  D N Fredricks; D A Relman
Journal:  Clin Microbiol Rev       Date:  1996-01       Impact factor: 26.132

Review 5.  Molecular Koch's postulates applied to microbial pathogenicity.

Authors:  S Falkow
Journal:  Rev Infect Dis       Date:  1988 Jul-Aug

6.  Secondary variants in individuals undergoing exome sequencing: screening of 572 individuals identifies high-penetrance mutations in cancer-susceptibility genes.

Authors:  Jennifer J Johnston; Wendy S Rubinstein; Flavia M Facio; David Ng; Larry N Singh; Jamie K Teer; James C Mullikin; Leslie G Biesecker
Journal:  Am J Hum Genet       Date:  2012-06-14       Impact factor: 11.025

7.  Novel microcephalic primordial dwarfism disorder associated with variants in the centrosomal protein ninein.

Authors:  Andrew Dauber; Stephen H Lafranchi; Zoltan Maliga; Julian C Lui; Jennifer E Moon; Cailin McDeed; Katrin Henke; Jonathan Zonana; Garrett A Kingman; Tune H Pers; Jeffrey Baron; Ron G Rosenfeld; Joel N Hirschhorn; Matthew P Harris; Vivian Hwa
Journal:  J Clin Endocrinol Metab       Date:  2012-08-29       Impact factor: 5.958

Review 8.  Genetic models of human vascular disease.

Authors:  V J Dzau; G H Gibbons; B K Kobilka; R M Lawn; R E Pratt
Journal:  Circulation       Date:  1995-01-15       Impact factor: 29.690

9.  Managing incidental findings and research results in genomic research involving biobanks and archived data sets.

Authors:  Susan M Wolf; Brittney N Crock; Brian Van Ness; Frances Lawrenz; Jeffrey P Kahn; Laura M Beskow; Mildred K Cho; Michael F Christman; Robert C Green; Ralph Hall; Judy Illes; Moira Keane; Bartha M Knoppers; Barbara A Koenig; Isaac S Kohane; Bonnie Leroy; Karen J Maschke; William McGeveran; Pilar Ossorio; Lisa S Parker; Gloria M Petersen; Henry S Richardson; Joan A Scott; Sharon F Terry; Benjamin S Wilfond; Wendy A Wolf
Journal:  Genet Med       Date:  2012-04       Impact factor: 8.822
  9 in total
  1 in total

1.  QRICH1 mutations cause a chondrodysplasia with developmental delay.

Authors:  Julian C Lui; Youn Hee Jee; Audrey Lee; Shanna Yue; Jacob Wagner; Deirdre E Donnelly; Karen S Vogt; Jeffrey Baron
Journal:  Clin Genet       Date:  2018-10-26       Impact factor: 4.438
  1 in total

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