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Orphanet Journal of Rare Diseases|September 4, 2023
Clinical, biochemical and molecular analysis in a cohort of individuals with gyrate atrophyEleanor Palmer, Karolina M Stepien, Christopher Campbell, et al.European Journal of Human Genetics : EJHG|April 22, 2020
Using an integrative machine learning approach utilising homology modelling to clinically interpret genetic variants: CACNA1F as an exemplarShalaw R Sallah, Panagiotis I Sergouniotis, Stephanie Barton, et al.Circulation|November 9, 2007
Randomized trial of genotype-guided versus standard warfarin dosing in patients initiating oral anticoagulationJeffrey L Anderson, Benjamin D Horne, Scott M Stevens, et al.European Journal of Human Genetics : EJHG|December 15, 2019
Diagnostic yield of panel-based genetic testing in syndromic inherited retinal diseaseOmamah A Jiman, Rachel L Taylor, Eva Lenassi, et al.European Journal of Human Genetics : EJHG|April 6, 2017
Validation of copy number variation analysis for next-generation sequencing diagnosticsJamie M Ellingford, Christopher Campbell, Stephanie Barton, et al.Journal of Medical Genetics|October 28, 2017
Assessment of the incorporation of CNV surveillance into gene panel next-generation sequencing testing for inherited retinal diseasesJamie M Ellingford, Bradley Horn, Christopher Campbell, et al.Journal of Medical Genetics|May 22, 2016
Molecular findings from 537 individuals with inherited retinal diseaseJamie M Ellingford, Stephanie Barton, Sanjeev Bhaskar, et al.Circulation|March 21, 2012
A randomized and clinical effectiveness trial comparing two pharmacogenetic algorithms and standard care for individualizing warfarin dosing (CoumaGen-II)Jeffrey L Anderson, Benjamin D Horne, Scott M Stevens, et al.Ophthalmology|February 14, 2016
Whole Genome Sequencing Increases Molecular Diagnostic Yield Compared with Current Diagnostic Testing for Inherited Retinal DiseaseJamie M Ellingford, Stephanie Barton, Sanjeev Bhaskar, et al.Journal of the National Cancer Institute|January 8, 2004
Anticancer chemosensitization and radiosensitization by the novel poly(ADP-ribose) polymerase-1 inhibitor AG14361Christopher R Calabrese, Robert Almassy, Stephanie Barton, et al.Pageof 3