F. Gedge

发表

Molecular diagnosis in hereditary hemorrhagic telangiectasia: findings in a series tested simultaneously by sequencing and deletion/duplication analysis

P. Bayrak-Toydemir, J. McDonald, W. Wooderchak, 2011, Clinical genetics.

Clinical and analytical sensitivities in hereditary hemorrhagic telangiectasia testing and a report of de novo mutations.

E. Lyon, A. Phansalkar, P. Bayrak-Toydemir, 2007, The Journal of molecular diagnostics : JMD.

Microsatellite Instability Testing by Immunohistochemistry: Initial Evaluation of Hereditary Nonpolyposis Colon Cancer and Potential Prognostic and Therapeutic Information

E. Lyon, S. Tripp, W. Samowitz, 2004 .

Molecular testing for adult type Alport syndrome

E. Lyon, M. Gregory, G. Pont-Kingdon, 2009, BMC nephrology.

RASA1 analysis: clinical and molecular findings in a series of consecutive cases.

P. Bayrak-Toydemir, D. Stevenson, J. McDonald, 2012, European journal of medical genetics.

Likelihood ratios to assess genetic evidence for clinical significance of uncertain variants: hereditary hemorrhagic telangiectasia as a model.

E. Lyon, A. Phansalkar, P. Bayrak-Toydemir, 2008, Experimental and molecular pathology.

Multiple sequence variants in hereditary hemorrhagic telangiectasia cases: illustration of complexity in molecular diagnostic interpretation.

P. Bayrak-Toydemir, J. McDonald, M. Fox, 2009, The Journal of molecular diagnostics : JMD.

Verification of multiplex ligation-dependent probe amplification probes in the absence of positive samples.

E. Lyon, P. Bayrak-Toydemir, C. Vaughn, 2011, Genetic testing and molecular biomarkers.

Complete gene scanning by temperature gradient capillary electrophoresis using the cystic fibrosis transmembrane conductance regulator gene as a model.

E. Lyon, F. Gedge, Lan-Szu Chou, 2005, The Journal of molecular diagnostics : JMD.

Hereditary hemorrhagic telangiectasia: two distinct ENG deletions in one family

P. Bayrak-Toydemir, M. McDonald, W. Wooderchak, 2010, Clinical genetics.

Genotype–phenotype correlation in hereditary hemorrhagic telangiectasia: Mutations and manifestations *

P. Bayrak-Toydemir, R. Mao, H. Coon, 2006, American journal of medical genetics. Part A.

Design and analytical validation of clinical DNA sequencing assays.

Whitney Wooderchak-Donahue, Pinar Bayrak-Toydemir, Elaine Lyon, 2012, Archives of pathology & laboratory medicine.

Flow Cytometric Assay for Genotyping Cytochrome P450 2C9 and 2C19

J. W. Pickering, E. Lyon, G. McMillin, 2004, American journal of pharmacogenomics : genomics-related research in drug development and clinical practice.