Szafranski K - Search Results

1

Polymorphic segmental duplications at 8p23.1 challenge the determination of individual defensin gene repertoires and the assembly of a contiguous human reference sequence.

Taudien S, Galgoczy P, Huse K, Reichwald K, Schilhabel M, Szafranski K, Shimizu A, Asakawa S, Frankish A, Loncarevic IF, Shimizu N, Siddiqui R, Platzer M. Taudien S, et al. Among authors: szafranski k. BMC Genomics. 2004 Dec 10;5(1):92. doi: 10.1186/1471-2164-5-92. BMC Genomics. 2004. PMID: 15588320 Free PMC article.

2

Haplotyping and copy number estimation of the highly polymorphic human beta-defensin locus on 8p23 by 454 amplicon sequencing.

Taudien S, Groth M, Huse K, Petzold A, Szafranski K, Hampe J, Rosenstiel P, Schreiber S, Platzer M. Taudien S, et al. Among authors: szafranski k. BMC Genomics. 2010 Apr 19;11:252. doi: 10.1186/1471-2164-11-252. BMC Genomics. 2010. PMID: 20403190 Free PMC article.

3

Comprehensive assessment of sequence variation within the copy number variable defensin cluster on 8p23 by target enriched in-depth 454 sequencing.

Taudien S, Szafranski K, Felder M, Groth M, Huse K, Raffaelli F, Petzold A, Zhang X, Rosenstiel P, Hampe J, Schreiber S, Platzer M. Taudien S, et al. Among authors: szafranski k. BMC Genomics. 2011 May 18;12(1):243. doi: 10.1186/1471-2164-12-243. BMC Genomics. 2011. PMID: 21592371 Free PMC article.

4

High-resolution mapping of the 8p23.1 beta-defensin cluster reveals strictly concordant copy number variation of all genes.

Groth M, Szafranski K, Taudien S, Huse K, Mueller O, Rosenstiel P, Nygren AO, Schreiber S, Birkenmeier G, Platzer M. Groth M, et al. Among authors: szafranski k. Hum Mutat. 2008 Oct;29(10):1247-54. doi: 10.1002/humu.20751. Hum Mutat. 2008. PMID: 18470942

5

Genetic variants of the copy number polymorphic beta-defensin locus are associated with sporadic prostate cancer.

Huse K, Taudien S, Groth M, Rosenstiel P, Szafranski K, Hiller M, Hampe J, Junker K, Schubert J, Schreiber S, Birkenmeier G, Krawczak M, Platzer M. Huse K, et al. Among authors: szafranski k. Tumour Biol. 2008;29(2):83-92. doi: 10.1159/000135688. Epub 2008 Jun 2. Tumour Biol. 2008. PMID: 18515986

6

Both copy number and sequence variations affect expression of human DEFB4.

Groth M, Wiegand C, Szafranski K, Huse K, Kramer M, Rosenstiel P, Schreiber S, Norgauer J, Platzer M. Groth M, et al. Among authors: szafranski k. Genes Immun. 2010 Sep;11(6):458-66. doi: 10.1038/gene.2010.19. Epub 2010 May 6. Genes Immun. 2010. PMID: 20445567

7

Single-nucleotide polymorphisms in NAGNAG acceptors are highly predictive for variations of alternative splicing.

Hiller M, Huse K, Szafranski K, Jahn N, Hampe J, Schreiber S, Backofen R, Platzer M. Hiller M, et al. Among authors: szafranski k. Am J Hum Genet. 2006 Feb;78(2):291-302. doi: 10.1086/500151. Epub 2005 Dec 22. Am J Hum Genet. 2006. PMID: 16400609 Free PMC article.

8

tuple_plot: fast pairwise nucleotide sequence comparison with noise suppression.

Szafranski K, Jahn N, Platzer M. Szafranski K, et al. Bioinformatics. 2006 Aug 1;22(15):1917-8. doi: 10.1093/bioinformatics/btl277. Epub 2006 Jun 9. Bioinformatics. 2006. PMID: 16766553

9

Alternative splicing at NAGNAG acceptors in Arabidopsis thaliana SR and SR-related protein-coding genes.

Schindler S, Szafranski K, Hiller M, Ali GS, Palusa SG, Backofen R, Platzer M, Reddy AS. Schindler S, et al. Among authors: szafranski k. BMC Genomics. 2008 Apr 10;9:159. doi: 10.1186/1471-2164-9-159. BMC Genomics. 2008. PMID: 18402682 Free PMC article.

10

FRAMA: from RNA-seq data to annotated mRNA assemblies.

Bens M, Sahm A, Groth M, Jahn N, Morhart M, Holtze S, Hildebrandt TB, Platzer M, Szafranski K. Bens M, et al. Among authors: szafranski k. BMC Genomics. 2016 Jan 14;17:54. doi: 10.1186/s12864-015-2349-8. BMC Genomics. 2016. PMID: 26763976 Free PMC article.

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