Marten Jäger
Marten Jäger
Institut für Medizinische Genetik und Humangenetik Charite Berlin - Bioinformatic core facility
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Identity-by-descent filtering of exome sequence data identifies PIGV mutations in hyperphosphatasia mental retardation syndrome
PM Krawitz, MR Schweiger, C Rödelsperger, C Marcelis, U Kölsch, ...
Nature genetics 42 (10), 827-829, 2010
Next-generation diagnostics and disease-gene discovery with the Exomiser
D Smedley, JOB Jacobsen, M Jäger, S Köhler, M Holtgrewe, M Schubach, ...
Nature protocols 10 (12), 2004-2015, 2015
A whole-genome analysis framework for effective identification of pathogenic regulatory variants in Mendelian disease
D Smedley, M Schubach, JOB Jacobsen, S Köhler, T Zemojtel, ...
The American Journal of Human Genetics 99 (3), 595-606, 2016
Effective diagnosis of genetic disease by computational phenotype analysis of the disease-associated genome
T Zemojtel, S Köhler, L Mackenroth, M Jäger, J Hecht, P Krawitz, ...
Science translational medicine 6 (252), 252ra123-252ra123, 2014
Hematopoietic lineage distribution and evolutionary dynamics of clonal hematopoiesis
CM Arends, J Galan-Sousa, K Hoyer, W Chan, M Jäger, K Yoshida, ...
Leukemia 32 (9), 1908-1919, 2018
MicroRNAs differentially expressed in postnatal aortic development downregulate elastin via 3′ UTR and coding-sequence binding sites
CE Ott, J Grünhagen, M Jäger, D Horbelt, S Schwill, K Kallenbach, G Guo, ...
PloS one 6 (1), e16250, 2011
L1Base 2: more retrotransposition-active LINE-1s, more mammalian genomes
T Penzkofer, M Jäger, M Figlerowicz, R Badge, S Mundlos, PN Robinson, ...
Nucleic acids research, gkw925, 2016
Microindel detection in short-read sequence data
P Krawitz, C Rödelsperger, M Jäger, L Jostins, S Bauer, PN Robinson
Bioinformatics 26 (6), 722-729, 2010
Characterization of glycosylphosphatidylinositol biosynthesis defects by clinical features, flow cytometry, and automated image analysis
A Knaus, JT Pantel, M Pendziwiat, N Hajjir, M Zhao, TC Hsieh, ...
Genome Medicine 10, 1-13, 2018
J annovar: AJ ava Library for Exome Annotation
M Jäger, K Wang, S Bauer, D Smedley, P Krawitz, PN Robinson
Human mutation 35 (5), 548-555, 2014
Composite transcriptome assembly of RNA-seq data in a sheep model for delayed bone healing
M Jäger, CE Ott, J Grünhagen, J Hecht, H Schell, S Mundlos, GN Duda, ...
BMC genomics 12, 1-12, 2011
MiR‐497∼ 195 cluster microRNAs regulate osteoblast differentiation by targeting BMP signaling
J Grünhagen, R Bhushan, E Degenkolbe, M Jäger, P Knaus, S Mundlos, ...
Journal of Bone and Mineral Research 30 (5), 796-808, 2015
De novo mutations in SLC25A24 cause a craniosynostosis syndrome with hypertrichosis, progeroid appearance, and mitochondrial dysfunction
N Ehmke, L Graul-Neumann, L Smorag, R Koenig, L Segebrecht, ...
The American Journal of Human Genetics 101 (5), 833-843, 2017
Live-cell imaging of circadian clock protein dynamics in CRISPR-generated knock-in cells
CH Gabriel, M Del Olmo, A Zehtabian, M Jäger, S Reischl, H van Dijk, ...
Nature communications 12 (1), 3796, 2021
Complement and inflammasome overactivation mediates paroxysmal nocturnal hemoglobinuria with autoinflammation
B Höchsmann, Y Murakami, M Osato, A Knaus, M Kawamoto, N Inoue, ...
The Journal of Clinical Investigation 129 (12), 5123-5136, 2019
Distinct global shifts in genomic binding profiles of limb malformation-associated HOXD13 mutations
DM Ibrahim, P Hansen, C Rödelsperger, AC Stiege, SC Doelken, D Horn, ...
Genome research 23 (12), 2091-2102, 2013
Multisite de novo mutations in human offspring after paternal exposure to ionizing radiation
M Holtgrewe, A Knaus, G Hildebrand, JT Pantel, MR Santos, K Neveling, ...
Scientific reports 8 (1), 14611, 2018
Functional interest of an articulating spacer in two-stage infected total knee arthroplasty revision
T Classen, M Von Knoch, M Wernsmann, S Landgraeber, F Löer, M Jäger
Orthopaedics & Traumatology: Surgery & Research 100 (4), 409-412, 2014
Combining callers improves the detection of copy number variants from whole-genome sequencing
M Coutelier, M Holtgrewe, M Jäger, R Flöttman, MA Mensah, ...
European Journal of Human Genetics 30 (2), 178-186, 2022
Computational exome and genome analysis
PN Robinson, RM Piro, M Jager
CRC Press, 2017
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