Literature DB >> 24316646

Mining the ultimate phenome repository.

Nigam H Shah1.   

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Year:  2013        PMID: 24316646      PMCID: PMC4036679          DOI: 10.1038/nbt.2757

Source DB:  PubMed          Journal:  Nat Biotechnol        ISSN: 1087-0156            Impact factor:   54.908


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  9 in total

1.  Evidence-based medicine in the EMR era.

Authors:  Jennifer Frankovich; Christopher A Longhurst; Scott M Sutherland
Journal:  N Engl J Med       Date:  2011-11-02       Impact factor: 91.245

2.  Associations of autoantibodies, autoimmune risk alleles, and clinical diagnoses from the electronic medical records in rheumatoid arthritis cases and non-rheumatoid arthritis controls.

Authors:  Katherine P Liao; Fina Kurreeman; Gang Li; Grant Duclos; Shawn Murphy; Raul Guzman; Tianxi Cai; Namrata Gupta; Vivian Gainer; Peter Schur; Jing Cui; Joshua C Denny; Peter Szolovits; Susanne Churchill; Isaac Kohane; Elizabeth W Karlson; Robert M Plenge
Journal:  Arthritis Rheum       Date:  2013-03

3.  Validation of electronic medical record-based phenotyping algorithms: results and lessons learned from the eMERGE network.

Authors:  Katherine M Newton; Peggy L Peissig; Abel Ngo Kho; Suzette J Bielinski; Richard L Berg; Vidhu Choudhary; Melissa Basford; Christopher G Chute; Iftikhar J Kullo; Rongling Li; Jennifer A Pacheco; Luke V Rasmussen; Leslie Spangler; Joshua C Denny
Journal:  J Am Med Inform Assoc       Date:  2013-03-26       Impact factor: 4.497

4.  Variants near FOXE1 are associated with hypothyroidism and other thyroid conditions: using electronic medical records for genome- and phenome-wide studies.

Authors:  Joshua C Denny; Dana C Crawford; Marylyn D Ritchie; Suzette J Bielinski; Melissa A Basford; Yuki Bradford; High Seng Chai; Lisa Bastarache; Rebecca Zuvich; Peggy Peissig; David Carrell; Andrea H Ramirez; Jyotishman Pathak; Russell A Wilke; Luke Rasmussen; Xiaoming Wang; Jennifer A Pacheco; Abel N Kho; M Geoffrey Hayes; Noah Weston; Martha Matsumoto; Peter A Kopp; Katherine M Newton; Gail P Jarvik; Rongling Li; Teri A Manolio; Iftikhar J Kullo; Christopher G Chute; Rex L Chisholm; Eric B Larson; Catherine A McCarty; Daniel R Masys; Dan M Roden; Mariza de Andrade
Journal:  Am J Hum Genet       Date:  2011-10-07       Impact factor: 11.025

5.  A nondegenerate code of deleterious variants in Mendelian loci contributes to complex disease risk.

Authors:  David R Blair; Christopher S Lyttle; Jonathan M Mortensen; Charles F Bearden; Anders Boeck Jensen; Hossein Khiabanian; Rachel Melamed; Raul Rabadan; Elmer V Bernstam; Søren Brunak; Lars Juhl Jensen; Dan Nicolae; Nigam H Shah; Robert L Grossman; Nancy J Cox; Kevin P White; Andrey Rzhetsky
Journal:  Cell       Date:  2013-09-26       Impact factor: 41.582

6.  PheWAS: demonstrating the feasibility of a phenome-wide scan to discover gene-disease associations.

Authors:  Joshua C Denny; Marylyn D Ritchie; Melissa A Basford; Jill M Pulley; Lisa Bastarache; Kristin Brown-Gentry; Deede Wang; Dan R Masys; Dan M Roden; Dana C Crawford
Journal:  Bioinformatics       Date:  2010-03-24       Impact factor: 6.937

7.  A PheWAS approach in studying HLA-DRB1*1501.

Authors:  S J Hebbring; S J Schrodi; Z Ye; Z Zhou; D Page; M H Brilliant
Journal:  Genes Immun       Date:  2013-02-07       Impact factor: 2.676

8.  Systematic comparison of phenome-wide association study of electronic medical record data and genome-wide association study data.

Authors:  Joshua C Denny; Lisa Bastarache; Marylyn D Ritchie; Robert J Carroll; Raquel Zink; Jonathan D Mosley; Julie R Field; Jill M Pulley; Andrea H Ramirez; Erica Bowton; Melissa A Basford; David S Carrell; Peggy L Peissig; Abel N Kho; Jennifer A Pacheco; Luke V Rasmussen; David R Crosslin; Paul K Crane; Jyotishman Pathak; Suzette J Bielinski; Sarah A Pendergrass; Hua Xu; Lucia A Hindorff; Rongling Li; Teri A Manolio; Christopher G Chute; Rex L Chisholm; Eric B Larson; Gail P Jarvik; Murray H Brilliant; Catherine A McCarty; Iftikhar J Kullo; Jonathan L Haines; Dana C Crawford; Daniel R Masys; Dan M Roden
Journal:  Nat Biotechnol       Date:  2013-12       Impact factor: 54.908

9.  Practice-based evidence: profiling the safety of cilostazol by text-mining of clinical notes.

Authors:  Nicholas J Leeper; Anna Bauer-Mehren; Srinivasan V Iyer; Paea Lependu; Cliff Olson; Nigam H Shah
Journal:  PLoS One       Date:  2013-05-23       Impact factor: 3.240

  9 in total
  18 in total

Review 1.  Biomechanisms of Comorbidity: Reviewing Integrative Analyses of Multi-omics Datasets and Electronic Health Records.

Authors:  N Pouladi; I Achour; H Li; J Berghout; C Kenost; M L Gonzalez-Garay; Y A Lussier
Journal:  Yearb Med Inform       Date:  2016-11-10

Review 2.  Big data in medicine is driving big changes.

Authors:  F Martin-Sanchez; K Verspoor
Journal:  Yearb Med Inform       Date:  2014-08-15

3.  PheKB: a catalog and workflow for creating electronic phenotype algorithms for transportability.

Authors:  Jacqueline C Kirby; Peter Speltz; Luke V Rasmussen; Melissa Basford; Omri Gottesman; Peggy L Peissig; Jennifer A Pacheco; Gerard Tromp; Jyotishman Pathak; David S Carrell; Stephen B Ellis; Todd Lingren; Will K Thompson; Guergana Savova; Jonathan Haines; Dan M Roden; Paul A Harris; Joshua C Denny
Journal:  J Am Med Inform Assoc       Date:  2016-03-28       Impact factor: 4.497

4.  Learning statistical models of phenotypes using noisy labeled training data.

Authors:  Vibhu Agarwal; Tanya Podchiyska; Juan M Banda; Veena Goel; Tiffany I Leung; Evan P Minty; Timothy E Sweeney; Elsie Gyang; Nigam H Shah
Journal:  J Am Med Inform Assoc       Date:  2016-05-12       Impact factor: 4.497

5.  Scalable Electronic Phenotyping For Studying Patient Comorbidities.

Authors:  Albee Y Ling; Emily Alsentzer; Josephine Chen; Juan M Banda; Suzanne Tamang; Evan Minty
Journal:  AMIA Annu Symp Proc       Date:  2018-12-05

6.  Development and validation of a classification approach for extracting severity automatically from electronic health records.

Authors:  Mary Regina Boland; Nicholas P Tatonetti; George Hripcsak
Journal:  J Biomed Semantics       Date:  2015-04-06

7.  Functional evaluation of out-of-the-box text-mining tools for data-mining tasks.

Authors:  Kenneth Jung; Paea LePendu; Srinivasan Iyer; Anna Bauer-Mehren; Bethany Percha; Nigam H Shah
Journal:  J Am Med Inform Assoc       Date:  2014-10-21       Impact factor: 4.497

8.  In Search of 'Birth Month Genes': Using Existing Data Repositories to Locate Genes Underlying Birth Month-Disease Relationships.

Authors:  Mary Regina Boland; Nicholas P Tatonetti
Journal:  AMIA Jt Summits Transl Sci Proc       Date:  2016-07-20

9.  Predicting Future Cardiovascular Events in Patients With Peripheral Artery Disease Using Electronic Health Record Data.

Authors:  Elsie Gyang Ross; Kenneth Jung; Joel T Dudley; Li Li; Nicholas J Leeper; Nigam H Shah
Journal:  Circ Cardiovasc Qual Outcomes       Date:  2019-03

10.  Comparing high-dimensional confounder control methods for rapid cohort studies from electronic health records.

Authors:  Yen Sia Low; Blanca Gallego; Nigam Haresh Shah
Journal:  J Comp Eff Res       Date:  2015-12-04       Impact factor: 1.744

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