Literature DB >> 22382959

Rare diseases: Genomics, plain and simple.

Trisha Gura.   

Abstract

Mesh:

Year:  2012        PMID: 22382959     DOI: 10.1038/483020a

Source DB:  PubMed          Journal:  Nature        ISSN: 0028-0836            Impact factor:   49.962


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  2 in total

1.  Glutaric aciduria type I: a common cause of episodic encephalopathy and spastic paralysis in the Amish of Lancaster County, Pennsylvania.

Authors:  D H Morton; M J Bennett; L E Seargeant; C A Nichter; R I Kelley
Journal:  Am J Med Genet       Date:  1991-10-01

2.  Genetic mapping and exome sequencing identify variants associated with five novel diseases.

Authors:  Erik G Puffenberger; Robert N Jinks; Carrie Sougnez; Kristian Cibulskis; Rebecca A Willert; Nathan P Achilly; Ryan P Cassidy; Christopher J Fiorentini; Kory F Heiken; Johnny J Lawrence; Molly H Mahoney; Christopher J Miller; Devika T Nair; Kristin A Politi; Kimberly N Worcester; Roni A Setton; Rosa Dipiazza; Eric A Sherman; James T Eastman; Christopher Francklyn; Susan Robey-Bond; Nicholas L Rider; Stacey Gabriel; D Holmes Morton; Kevin A Strauss
Journal:  PLoS One       Date:  2012-01-17       Impact factor: 3.240

  2 in total
  3 in total

Review 1.  Ensuring privacy in the study of pathogen genetics.

Authors:  Sanjay R Mehta; Staal A Vinterbo; Susan J Little
Journal:  Lancet Infect Dis       Date:  2014-04-07       Impact factor: 25.071

2.  Research Trends in Amish Population Health, a Growing Literature about a Growing Rural Population.

Authors:  Cory Anderson; Lindsey Potts
Journal:  J Rural Soc Sci       Date:  2021-05-17

3.  Jumping on the Train of Personalized Medicine: A Primer for Non- Geneticist Clinicians: Part 3. Clinical Applications in the Personalized Medicine Area.

Authors:  Aihua Li; David Meyre
Journal:  Curr Psychiatry Rev       Date:  2014-05
  3 in total

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