Monique Johnson, PhD

Dr. Johnson

Monique Johnson, PhD - Assistant Professor

Oregon Health & Science University
3181 SW Sam Jackson Park Road
Mail Code # MP350
Portland, OR  97239
Office: 503 494-2409
Fax: 503 494-6922


The focus of my clinical research is the development of sequence-based testing for rare disorders, development of next generation sequencing panels for rare disorders, development of custom microarrays to address copy number variants, and validation and implementation of algorithms for interpretation pathogenicity of sequence variant of unknown clinical significance. 

My current research interest focuses on pharmacogenetics (the study of the effect of genetic variation on drug response).  Current studies include breast cancer and tamoxifen, clopidogrel (Plavix) and CYP2C19, and colon cancer and associated biomarkers.

Previous to joining the clinical molecular diagnostic lab, I was a member of the Hayflick research lab where I investigated the genetic basis of Pantothenate Kinase-Associated Neurodegeneration disorder and the molecular mechanism of disease pathology.  As a graduate student, I investigated the genetic basis of peroxisomal disorders resulting in the cloning of a gene of interest and characterization of the molecular mechanism of that associated protein.


2011 Lisa Kalman, Jay Leonard, Norman Gerry, Jack Tarleton, Christina Bridges, Julie M. Gastier-Foster, Robert E. Pyatt, Eileen Stonerock,Monique A. Johnson, Sue Richards, Iris Schrijver, Tianhui Ma, Vanessa Rangel Miller, Yetsa Adadevoh, Pat Furlong, Christine Beiswanger and Lorraine TojiQuality Assurance for Duchenne and Becker Muscular Dystrophy Genetic Testing: Development of a Genomic DNA Reference Material Panel J of Mol Diag 13(2):167-174.

 2011 Bradford D. Gessner MD, Melanie B. Gillingham PhD, Monique A. Johnson PhD , C. Sue Richards PhD, William E. Lambert PhD, David Sesser BA, Leanne C. Rien RN, Cheryl A. Hermerath MBA, Michael R. Skeels PhD, MPH, Stephanie Birch RN, MPH, Cary O. Harding MD, Thalia Wood MPH, David M. Koeller MD. Prevalence and Distribution of the c.1436C>T Sequence Variant of Carnitine Palmitoyltransferase 1A Among Alaskan Infants. J of Pediatr. 158:46-51.

2011 Heather Spencer Feigelson, Katrina AB Goddard, Monique A Johnson, Kellyan C. Funk,Alanna Kulchak Rahm, Tia Kauffman, Dhananjay A Chitale, Loic Le Marchand, C Sue Richards. Reliability of KRAS Mutation Testing in Metastatic Colorectal Cancer Patients across Five Laboratories. Submitted to Clinical Cancer Research May 2011

2009 Nabil N. Moghrabi, Monique A. Johnson, Marvin J. Yoshitomi, Xiaoman Zhu, Muhsen Al-Dhalimy, Susan Olson, Markus Grompe, C. Sue Richards. Validation of Fanconi Anemia Group A Assignment Subtyping Using Molecular Analysis. Genetics in Medicine 11(3):183-192.

2008 Jean Amos Wilson, Victoria M. Pratt, Amit Phansalkar, Kasinathan Muralidharan, W. Edward Highsmith Jr,, Jeanne C. Beck, Scott Bridgeman, Ebony M. Courtney, Lidia Epp, Andrea Ferreira-Gonzalez, Nick L. Hjelm, Leonard M. Holtegaard, Mohamed A. Jama , John P. Jakupciak, Monique A. Johnson, Paul Labrousse, Elaine Lyon, Thomas W. Prior, C. Sue Richards, Kristy L. Richie, Benjamin B. Roa, Elizabeth M. Rohlfs, Tina Sellers, Stephanie L. Sherman, Karen A. Siegrist, Lawrence M. Silverman, Joanna Wiszniewska, Lisa V. Kalman. Consensus Characterization of 16 FMR1 Reference Materials: A Consortium Study by the Fragile Xperts. J of Molecular Diagnostics, 10:2-15.

2007 Monique A. Johnson, Marvin J. Yoshitomi, and C. Sue Richards. A Comparative Study of Five Technologically Diverse CFTR Testing Platforms. J of Molecular Diagnostics, 9;401-407

2007 Lisa Kalman, M. A. Johnson, J. Beck, E. Berry-Kravis, A. Buller, B. Casey, G.L. Feldman, J. Handsfield, J.P. Jakupciak, S. Maragh, K. Matteson, K. Muralidharan, K.L. Richie, E.M. Rohlfs, F. Schaefer, T. Sellers, E. Spector, C.S. Richards. Development of Genomic Reference Materials for Huntington Disease Genetic Testing. Genetics in Medicine, 9:719-723.

2004 Monique A. Johnson, Y.M. Kuo, S.K.Westaway, S.M. Parker, K.H.L. Ching, J. Gitschier, S.J. Hayflick. Mitochondrial localization of human PANK2 and hypotheses of secondary iron accumulation in pantothenate kinase-associated neurodegeneration. Annals of the New York Academy of Sciences, 1012: 282-298.

2003 Susan J. Hayflick, S.K. Westaway, B. Levinson, B. Zhou, M.A. Johnson, K.H.L. Ching, J. Gitschier. Genetic, clinical, and radiographic delineations of Hallervorden-Spatz syndrome. The New England Journal of Medicine, 348:33-40.