Literature DB >> 24145212

Clinical genetics: exomes in the clinic.

Louisa Flintoft.   

Abstract

Mesh：

Year:  2013        PMID： 24145212     DOI： 10.1038/nrg3620

Source DB:  PubMed          Journal:  Nat Rev Genet        ISSN： 1471-0056            Impact factor:   53.242


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  1 in total

1.  Clinical whole-exome sequencing for the diagnosis of mendelian disorders.

Authors:  Yaping Yang; Donna M Muzny; Jeffrey G Reid; Matthew N Bainbridge; Alecia Willis; Patricia A Ward; Alicia Braxton; Joke Beuten; Fan Xia; Zhiyv Niu; Matthew Hardison; Richard Person; Mir Reza Bekheirnia; Magalie S Leduc; Amelia Kirby; Peter Pham; Jennifer Scull; Min Wang; Yan Ding; Sharon E Plon; James R Lupski; Arthur L Beaudet; Richard A Gibbs; Christine M Eng
Journal:  N Engl J Med       Date:  2013-10-02       Impact factor: 91.245
  1 in total
  4 in total

1.  RegEl corpus: identifying DNA regulatory elements in the scientific literature.

Authors:  Samuele Garda; Freyda Lenihan-Geels; Sebastian Proft; Stefanie Hochmuth; Markus Schülke; Dominik Seelow; Ulf Leser
Journal:  Database (Oxford)       Date:  2022-06-27       Impact factor: 4.462

2.  Panel-based genetic diagnostic testing for inherited eye diseases is highly accurate and reproducible, and more sensitive for variant detection, than exome sequencing.

Authors:  Mark B Consugar; Daniel Navarro-Gomez; Emily M Place; Kinga M Bujakowska; Maria E Sousa; Zoë D Fonseca-Kelly; Daniel G Taub; Maria Janessian; Dan Yi Wang; Elizabeth D Au; Katherine B Sims; David A Sweetser; Anne B Fulton; Qin Liu; Janey L Wiggs; Xiaowu Gai; Eric A Pierce
Journal:  Genet Med       Date:  2014-11-20       Impact factor: 8.822

3.  Identification of a novel p.Q1772X ANK1 mutation in a Korean family with hereditary spherocytosis.

Authors:  Joo Hyung Han; Seung Kim; Hoon Jang; So Won Kim; Min Goo Lee; Hong Koh; Ji Hyun Lee
Journal:  PLoS One       Date:  2015-06-24       Impact factor: 3.240

4.  Dynamic software design for clinical exome and genome analyses: insights from bioinformaticians, clinical geneticists, and genetic counselors.

Authors:  Casper Shyr; Andre Kushniruk; Clara D M van Karnebeek; Wyeth W Wasserman
Journal:  J Am Med Inform Assoc       Date:  2015-06-27       Impact factor: 4.497
  4 in total

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