Christina Smith

Heteroplasmic mtDNA mutation (T----G) at 8993 can cause Leigh disease when the percentage of abnormal mtDNA is high.

Y. Tatuch, John Christodoulou, Annette Feigenbaum et al. · PubMed · 1992 · 485 citations

Life Sciences, Genetics, Molecular Genetics +9

Validation and Implementation of Targeted Capture and Sequencing for the Detection of Actionable Mutation, Copy Number Variation, and Gene Rearrangement in Clinical Cancer Specimens

Colin C. Pritchard, Stephen J. Salipante, Karen M. Koehler et al. · Journal of Molecular Diagnostics · 2013 · 279 citations · Full text

Medicine, Molecular Biology, Oncology +16

Complex MSH2 and MSH6 mutations in hypermutated microsatellite unstable advanced prostate cancer

Colin C. Pritchard, Colm Morrissey, Akash Kumar et al. · Nature Communications · 2014 · 266 citations · Full text

Medicine, Genetics, Oncology +17

Model for the genetic evolution of human solid tumors.

Stanley E. Shackney, Christina Smith, Brent W. Miller et al. · PubMed · 1989 · 255 citations

Life Sciences, Cancer Biology, Genetics +17

ColoSeq Provides Comprehensive Lynch and Polyposis Syndrome Mutational Analysis Using Massively Parallel Sequencing

Colin C. Pritchard, Christina Smith, Stephen J. Salipante et al. · Journal of Molecular Diagnostics · 2012 · 203 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17