A Whole-Genome Analysis Framework for Effective Identification of Pathogenic Regulatory Variants in Mendelian Disease. Smedley D, Schubach M, Jacobsen JOB, Köhler S, Zemojtel T, Spielmann M, Jäger M, Hochheiser H, Washington NL, McMurry JA, Haendel MA, Mungall CJ, Lewis SE, Groza T, Valentini G, Robinson PN, The American Journal of Human Genetics 2016;99;3;595-606
PMID:27569544 DOI:10.1016/j.ajhg.2016.07.005

Next-generation diagnostics and disease-gene discovery with the Exomiser. Smedley D, Jacobsen JO, Jäger M, Köhler S, Holtgrewe M et al. Nature protocols 2015;10;12;2004-15
PMID:26562621 DOI:10.1038/nprot.2015.124

Computational evaluation of exome sequence data using human and model organism phenotypes improves diagnostic efficiency. Bone WP, Washington NL, Buske OJ, Adams DR, Davis J et al. Genetics in medicine : official journal of the American College of Medical Genetics 2015
PMID:26562225 DOI:10.1038/gim.2015.137

Walking the interactome for candidate prioritization in exome sequencing studies of Mendelian diseases. Smedley D, Köhler S, Czeschik JC, Amberger J, Bocchini C et al. Bioinformatics (Oxford, England) 2014;30;22;3215-22
PMID:25078397 DOI:10.1093/bioinformatics/btu508

Effective diagnosis of genetic disease by computational phenotype analysis of the disease-associated genome. Zemojtel T, Köhler S, Mackenroth L, Jäger M, Hecht J et al. Science translational medicine 2014;6;252;252ra123
PMID:25186178 DOI:10.1126/scitranslmed.3009262

Improved exome prioritization of disease genes through cross-species phenotype comparison. Robinson PN, Köhler S, Oellrich A, Sanger Mouse Genetics Project, Wang K et al. Genome research 2014;24;2;340-8
PMID:24162188 DOI:10.1101/gr.160325.113