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Items: 9

1.

Pathogenic variants in USP7 cause a neurodevelopmental disorder with speech delays, altered behavior, and neurologic anomalies.

Fountain MD, Oleson DS, Rech ME, Segebrecht L, Hunter JV, McCarthy JM, Lupo PJ, Holtgrewe M, Moran R, Rosenfeld JA, Isidor B, Le Caignec C, Saenz MS, Pedersen RC, Morgan TM, Pfotenhauer JP, Xia F, Bi W, Kang SL, Patel A, Krantz ID, Raible SE, Smith W, Cristian I, Torti E, Juusola J, Millan F, Wentzensen IM, Person RE, Küry S, Bézieau S, Uguen K, Férec C, Munnich A, van Haelst M, Lichtenbelt KD, van Gassen K, Hagelstrom T, Chawla A, Perry DL, Taft RJ, Jones M, Masser-Frye D, Dyment D, Venkateswaran S, Li C, Escobar LF, Horn D, Spillmann RC, Peña L, Wierzba J, Strom TM, Parenti I, Kaiser FJ, Ehmke N, Schaaf CP.

Genet Med. 2019 Aug;21(8):1797-1807. doi: 10.1038/s41436-019-0433-1. Epub 2019 Jan 25.

PMID:
30679821
2.

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.

3.

HLA-MA: simple yet powerful matching of samples using HLA typing results.

Messerschmidt C, Holtgrewe M, Beule D.

Bioinformatics. 2017 Jul 15;33(14):2241-2242. doi: 10.1093/bioinformatics/btx132.

PMID:
28334360
4.

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.

5.

Methods for the detection and assembly of novel sequence in high-throughput sequencing data.

Holtgrewe M, Kuchenbecker L, Reinert K.

Bioinformatics. 2015 Jun 15;31(12):1904-12. doi: 10.1093/bioinformatics/btv051. Epub 2015 Feb 2.

PMID:
25649620
6.

Fiona: a parallel and automatic strategy for read error correction.

Schulz MH, Weese D, Holtgrewe M, Dimitrova V, Niu S, Reinert K, Richard H.

Bioinformatics. 2014 Sep 1;30(17):i356-63. doi: 10.1093/bioinformatics/btu440.

7.

Genome alignment with graph data structures: a comparison.

Kehr B, Trappe K, Holtgrewe M, Reinert K.

BMC Bioinformatics. 2014 Apr 9;15:99. doi: 10.1186/1471-2105-15-99.

8.

RazerS 3: faster, fully sensitive read mapping.

Weese D, Holtgrewe M, Reinert K.

Bioinformatics. 2012 Oct 15;28(20):2592-9. doi: 10.1093/bioinformatics/bts505. Epub 2012 Aug 24.

PMID:
22923295
9.

A novel and well-defined benchmarking method for second generation read mapping.

Holtgrewe M, Emde AK, Weese D, Reinert K.

BMC Bioinformatics. 2011 May 26;12:210. doi: 10.1186/1471-2105-12-210.

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