Literature DB >> 24473319

Standards for clinical use of genetic variants.

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Abstract

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Year:  2014        PMID： 24473319     DOI： 10.1038/ng.2893

Source DB:  PubMed          Journal:  Nat Genet        ISSN： 1061-4036            Impact factor:   38.330


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  2 in total

1.  Exonic transcription factor binding directs codon choice and affects protein evolution.

Authors:  Andrew B Stergachis; Eric Haugen; Anthony Shafer; Wenqing Fu; Benjamin Vernot; Alex Reynolds; Anthony Raubitschek; Steven Ziegler; Emily M LeProust; Joshua M Akey; John A Stamatoyannopoulos
Journal:  Science       Date:  2013-12-13       Impact factor: 47.728

2.  Defining the disease liability of variants in the cystic fibrosis transmembrane conductance regulator gene.

Authors:  Patrick R Sosnay; Karen R Siklosi; Fredrick Van Goor; Kyle Kaniecki; Haihui Yu; Neeraj Sharma; Anabela S Ramalho; Margarida D Amaral; Ruslan Dorfman; Julian Zielenski; David L Masica; Rachel Karchin; Linda Millen; Philip J Thomas; George P Patrinos; Mary Corey; Michelle H Lewis; Johanna M Rommens; Carlo Castellani; Christopher M Penland; Garry R Cutting
Journal:  Nat Genet       Date:  2013-08-25       Impact factor: 38.330
  2 in total
  3 in total

1.  Human genome variation.

Authors: 
Journal:  Nat Genet       Date:  2014-11       Impact factor: 38.330

2.  Informed consent for next-generation nucleotide sequencing studies: Aiding communication between participants and investigators.

Authors:  Rhonda G Kost; Stephen M Poppel; Barry S Coller
Journal:  J Clin Transl Sci       Date:  2017-02-07

Review 3.  Molecular Biomarkers for Gestational Diabetes Mellitus.

Authors:  Stephanie Dias; Carmen Pheiffer; Yoonus Abrahams; Paul Rheeder; Sumaiya Adam
Journal:  Int J Mol Sci       Date:  2018-09-26       Impact factor: 5.923
  3 in total

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