Regis A. James

Most-cited papers

1. Resolution of Disease Phenotypes Resulting from Multilocus Genomic Variation

   J. Posey, T. Harel, Peng-Fei Liu, J. Rosenfeld +17 more

   2016New England Journal of Medicine693 citations Open access

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2. Molecular Diagnostic Experience of Whole-Exome Sequencing in Adult Patients

   J. Posey, J. Rosenfeld, Regis A. James, M. Bainbridge +19 more

   2015Genetics in Medicine253 citations Open access

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3. Parent of origin, mosaicism, and recurrence risk: probabilistic modeling explains the broken symmetry of transmission genetics.

   I. Campbell, J. Stewart, Regis A. James, J. Lupski +3 more

   2014American Journal of Human Genetics122 citations Open access

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4. A visual and curatorial approach to clinical variant prioritization and disease gene discovery in genome-wide diagnostics

   Regis A. James, I. Campbell, E. Chen, Philip M. Boone +7 more

   2016Genome Medicine42 citations Open access

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5. De novo deletions and duplications of 17q25.3 cause susceptibility to cardiovascular malformations

   F. Probst, Regis A. James, Lindsay C. Burrage, J. Rosenfeld +15 more

   2015Orphanet Journal of Rare Diseases15 citations Open access

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6. The Hematopoietic Expression Viewer: expanding mobile apps as a scientific tool

   Regis A. James, Mitchell M. Rao, E. Chen, M. Goodell +1 more

   2012Bioinform.7 citations Open access

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7. NetComm: a network analysis tool based on communicability

   I. Campbell, Regis A. James, E. Chen, C. Shaw

   2014Bioinform.6 citations Open access

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