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Items: 16

1.

Multisite de novo mutations in human offspring after paternal exposure to ionizing radiation.

Holtgrewe M, Knaus A, Hildebrand G, Pantel JT, Santos MRL, Neveling K, Goldmann J, Schubach M, Jäger M, Coutelier M, Mundlos S, Beule D, Sperling K, Krawitz PM.

Sci Rep. 2018 Oct 2;8(1):14611. doi: 10.1038/s41598-018-33066-x.

2.

Hematopoietic lineage distribution and evolutionary dynamics of clonal hematopoiesis.

Arends CM, Galan-Sousa J, Hoyer K, Chan W, Jäger M, Yoshida K, Seemann R, Noerenberg D, Waldhueter N, Fleischer-Notter H, Christen F, Schmitt CA, Dörken B, Pelzer U, Sinn M, Zemojtel T, Ogawa S, Märdian S, Schreiber A, Kunitz A, Krüger U, Bullinger L, Mylonas E, Frick M, Damm F.

Leukemia. 2018 Sep;32(9):1908-1919. doi: 10.1038/s41375-018-0047-7. Epub 2018 Mar 1.

PMID:
29491455
3.

Characterization of glycosylphosphatidylinositol biosynthesis defects by clinical features, flow cytometry, and automated image analysis.

Knaus A, Pantel JT, Pendziwiat M, Hajjir N, Zhao M, Hsieh TC, Schubach M, Gurovich Y, Fleischer N, Jäger M, Köhler S, Muhle H, Korff C, Møller RS, Bayat A, Calvas P, Chassaing N, Warren H, Skinner S, Louie R, Evers C, Bohn M, Christen HJ, van den Born M, Obersztyn E, Charzewska A, Endziniene M, Kortüm F, Brown N, Robinson PN, Schelhaas HJ, Weber Y, Helbig I, Mundlos S, Horn D, Krawitz PM.

Genome Med. 2018 Jan 9;10(1):3. doi: 10.1186/s13073-017-0510-5.

4.

De Novo Mutations in SLC25A24 Cause a Craniosynostosis Syndrome with Hypertrichosis, Progeroid Appearance, and Mitochondrial Dysfunction.

Ehmke N, Graul-Neumann L, Smorag L, Koenig R, Segebrecht L, Magoulas P, Scaglia F, Kilic E, Hennig AF, Adolphs N, Saha N, Fauler B, Kalscheuer VM, Hennig F, Altmüller J, Netzer C, Thiele H, Nürnberg P, Yigit G, Jäger M, Hecht J, Krüger U, Mielke T, Krawitz PM, Horn D, Schuelke M, Mundlos S, Bacino CA, Bonnen PE, Wollnik B, Fischer-Zirnsak B, Kornak U.

Am J Hum Genet. 2017 Nov 2;101(5):833-843. doi: 10.1016/j.ajhg.2017.09.016.

5.

Alternate-locus aware variant calling in whole genome sequencing.

Jäger M, Schubach M, Zemojtel T, Reinert K, Church DM, Robinson PN.

Genome Med. 2016 Dec 13;8(1):130.

6.

L1Base 2: more retrotransposition-active LINE-1s, more mammalian genomes.

Penzkofer T, Jäger M, Figlerowicz M, Badge R, Mundlos S, Robinson PN, Zemojtel T.

Nucleic Acids Res. 2017 Jan 4;45(D1):D68-D73. doi: 10.1093/nar/gkw925. Epub 2016 Oct 18.

7.

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.

Am J Hum Genet. 2016 Sep 1;99(3):595-606. doi: 10.1016/j.ajhg.2016.07.005. Epub 2016 Aug 25.

8.

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

Smedley D, Jacobsen JO, Jäger M, Köhler S, Holtgrewe M, Schubach M, Siragusa E, Zemojtel T, Buske OJ, Washington NL, Bone WP, Haendel MA, Robinson PN.

Nat Protoc. 2015 Dec;10(12):2004-15. doi: 10.1038/nprot.2015.124. Epub 2015 Nov 12.

9.

MiR-497∼195 cluster microRNAs regulate osteoblast differentiation by targeting BMP signaling.

Grünhagen J, Bhushan R, Degenkolbe E, Jäger M, Knaus P, Mundlos S, Robinson PN, Ott CE.

J Bone Miner Res. 2015 May;30(5):796-808. doi: 10.1002/jbmr.2412.

10.

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

Zemojtel T, Köhler S, Mackenroth L, Jäger M, Hecht J, Krawitz P, Graul-Neumann L, Doelken S, Ehmke N, Spielmann M, Oien NC, Schweiger MR, Krüger U, Frommer G, Fischer B, Kornak U, Flöttmann R, Ardeshirdavani A, Moreau Y, Lewis SE, Haendel M, Smedley D, Horn D, Mundlos S, Robinson PN.

Sci Transl Med. 2014 Sep 3;6(252):252ra123. doi: 10.1126/scitranslmed.3009262.

11.

Jannovar: a java library for exome annotation.

Jäger M, Wang K, Bauer S, Smedley D, Krawitz P, Robinson PN.

Hum Mutat. 2014 May;35(5):548-55. doi: 10.1002/humu.22531. Epub 2014 Apr 9.

PMID:
24677618
12.

Distinct global shifts in genomic binding profiles of limb malformation-associated HOXD13 mutations.

Ibrahim DM, Hansen P, Rödelsperger C, Stiege AC, Doelken SC, Horn D, Jäger M, Janetzki C, Krawitz P, Leschik G, Wagner F, Scheuer T, Schmidt-von Kegler M, Seemann P, Timmermann B, Robinson PN, Mundlos S, Hecht J.

Genome Res. 2013 Dec;23(12):2091-102. doi: 10.1101/gr.157610.113. Epub 2013 Aug 30.

13.

Composite transcriptome assembly of RNA-seq data in a sheep model for delayed bone healing.

Jäger M, Ott CE, Grünhagen J, Hecht J, Schell H, Mundlos S, Duda GN, Robinson PN, Lienau J.

BMC Genomics. 2011 Mar 24;12:158. doi: 10.1186/1471-2164-12-158.

14.

MicroRNAs differentially expressed in postnatal aortic development downregulate elastin via 3' UTR and coding-sequence binding sites.

Ott CE, Grünhagen J, Jäger M, Horbelt D, Schwill S, Kallenbach K, Guo G, Manke T, Knaus P, Mundlos S, Robinson PN.

PLoS One. 2011 Jan 31;6(1):e16250. doi: 10.1371/journal.pone.0016250.

15.

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

Krawitz PM, Schweiger MR, Rödelsperger C, Marcelis C, Kölsch U, Meisel C, Stephani F, Kinoshita T, Murakami Y, Bauer S, Isau M, Fischer A, Dahl A, Kerick M, Hecht J, Köhler S, Jäger M, Grünhagen J, de Condor BJ, Doelken S, Brunner HG, Meinecke P, Passarge E, Thompson MD, Cole DE, Horn D, Roscioli T, Mundlos S, Robinson PN.

Nat Genet. 2010 Oct;42(10):827-9. doi: 10.1038/ng.653. Epub 2010 Aug 29.

PMID:
20802478
16.

Microindel detection in short-read sequence data.

Krawitz P, Rödelsperger C, Jäger M, Jostins L, Bauer S, Robinson PN.

Bioinformatics. 2010 Mar 15;26(6):722-9. doi: 10.1093/bioinformatics/btq027. Epub 2010 Feb 9.

PMID:
20144947

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