Marten Jäger

Next-generation diagnostics and disease-gene discovery with the Exomiser

Damian Smedley, Julius O.B. Jacobsen, Marten Jäger et al. · Nature Protocols · 2015 · 435 citations · Full text

Disease-gene Discovery, Functional Genomics, Engineering +8

Identity-by-descent filtering of exome sequence data identifies PIGV mutations in hyperphosphatasia mental retardation syndrome

Peter Krawitz, Michal R. Schweiger, Christian Rödelsperger et al. · Nature Genetics · 2010 · 298 citations · Full text

Bioinformatics, Developmental Biology, Mendelian Disorder +11

A Whole-Genome Analysis Framework for Effective Identification of Pathogenic Regulatory Variants in Mendelian Disease

Damian Smedley, Max Schubach, Julius O.B. Jacobsen et al. · The American Journal of Human Genetics · 2016 · 285 citations · Full text

Biology, Bioinformatics, Genetic Analysis +13

Effective diagnosis of genetic disease by computational phenotype analysis of the disease-associated genome

Tomasz Żemojtel, Sebastian Köhler, Luisa Mackenroth et al. · Science Translational Medicine · 2014 · 259 citations

Hematopoietic lineage distribution and evolutionary dynamics of clonal hematopoiesis

Christopher Maximilian Arends, Joel Galan-Sousa, Kaja Hoyer et al. · Leukemia · 2018 · 185 citations

Evolutionary Biology, Hematology, Blood Cell +4