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Genome Research|February 6, 2002
Control genes and variability: absence of ubiquitous reference transcripts in diverse mammalian expression studiesPeter D Lee, Robert Sladek, Celia M T Greenwood, et al.Cancer Research|April 6, 2006
Constitutive activation of extracellular signal-regulated kinase predisposes diffuse large B-cell lymphoma cell lines to CD40-mediated cell deathC Annette Hollmann, Trevor Owens, Josephine Nalbantoglu, et al.Human Genomics|June 30, 2011
A meta-analysis of single base-pair substitutions in translational termination codons ('nonstop' mutations) that cause human inherited diseaseStephen E Hamby, Nick S T Thomas, David N Cooper, et al.Human Genomics|December 14, 2011
Human genetics and genomics a decade after the release of the draft sequence of the human genomeNasheen Naidoo, Yudi Pawitan, Richie Soong, et al.Human Genomics|August 17, 2013
Screening in silico predicted remotely acting NF1 gene regulatory elements for mutations in patients with neurofibromatosis type 1Stephen E Hamby, Pablo Reviriego, David N Cooper, et al.BMC Genomics|July 4, 2013
Identifying Mendelian disease genes with the variant effect scoring toolHannah Carter, Christopher Douville, Peter D Stenson, et al.Personalized Medicine|May 23, 2018
Critical appraisal of the private genetic and pharmacogenomic testing environment in GreeceAggeliki Sagia, David N Cooper, Konstantinos Poulas, et al.Human Genomics|June 23, 2017
The NF1 somatic mutational landscape in sporadic human cancersCharlotte Philpott, Hannah Tovell, Ian M Frayling, et al.Genomic Medicine|October 17, 2008
Molecular cytogenetic characterization of two independent karyotypic anomalies in a patient with severe mental retardation and juvenile idiopathic arthritisSabine Leybrand, Eva Rossier, Gotthold Barbi, et al.Human Genetics|January 4, 2014
Population-specific differences in gene conversion patterns between human SUZ12 and SUZ12P are indicative of the dynamic nature of interparalog gene conversionTanja Mussotter, Kathrin Bengesser, Josef Högel, et al.Pageof 57