Year |
Citation |
Score |
2024 |
Moura S, Hartl I, Brumovska V, Calabrese PP, Yasari A, Striedner Y, Bishara M, Mair T, Ebner T, Schütz GJ, Sevcsik E, Tiemann-Boege I. Exploring FGFR3 Mutations in the Male Germline: Implications for Clonal Germline Expansions and Paternal Age-Related Dysplasias. Genome Biology and Evolution. 16. PMID 38411226 DOI: 10.1093/gbe/evae015 |
0.413 |
|
2024 |
Striedner Y, Arbeithuber B, Moura S, Nowak E, Reinhardt R, Muresan L, Salazar R, Ebner T, Tiemann-Boege I. Exploring the Micro-Mosaic Landscape of Mutations in the Ageing Male Germline and Their Potential Implications in Meiotic Differentiation. Genes. 15. PMID 38397181 DOI: 10.3390/genes15020191 |
0.414 |
|
2022 |
Salazar R, Arbeithuber B, Ivankovic M, Heinzl M, Moura S, Hartl I, Mair T, Lahnsteiner A, Ebner T, Shebl O, Pröll J, Tiemann-Boege I. Discovery of an unusually high number of de novo mutations in sperm of older men using duplex sequencing. Genome Research. 32: 499-511. PMID 35210354 DOI: 10.1101/gr.275695.121 |
0.465 |
|
2020 |
Tiemann-Boege I, Mair T, Yasari A, Zurovec M. Pathogenic postzygotic mosaicism in the tyrosine receptor kinase pathway: potential unidentified human disease hidden away in a few cells. The Febs Journal. PMID 32810928 DOI: 10.1111/febs.15528 |
0.339 |
|
2020 |
Stoler N, Arbeithuber B, Povysil G, Heinzl M, Salazar R, Makova KD, Tiemann-Boege I, Nekrutenko A. Family reunion via error correction: an efficient analysis of duplex sequencing data. Bmc Bioinformatics. 21: 96. PMID 32131723 DOI: 10.1186/S12859-020-3419-8 |
0.348 |
|
2017 |
Tiemann-Boege I, Schwarz T, Striedner Y, Heissl A. The consequences of sequence erosion in the evolution of recombination hotspots. Philosophical Transactions of the Royal Society of London. Series B, Biological Sciences. 372. PMID 29109225 DOI: 10.1098/Rstb.2016.0462 |
0.401 |
|
2017 |
Striedner Y, Schwarz T, Welte T, Futschik A, Rant U, Tiemann-Boege I. The long zinc finger domain of PRDM9 forms a highly stable and long-lived complex with its DNA recognition sequence. Chromosome Research : An International Journal On the Molecular, Supramolecular and Evolutionary Aspects of Chromosome Biology. PMID 28155083 DOI: 10.1007/S10577-017-9552-1 |
0.331 |
|
2017 |
Palzenberger E, Reinhardt R, Muresan L, Palaoro B, Tiemann-Boege I. Discovery of Rare Haplotypes by Typing Millions of Single-Molecules with Bead Emulsion Haplotyping (BEH). Methods in Molecular Biology (Clifton, N.J.). 1551: 273-305. PMID 28138851 DOI: 10.1007/978-1-4939-6750-6_14 |
0.352 |
|
2017 |
Arbeithuber B, Heissl A, Tiemann-Boege I. Haplotyping of Heterozygous SNPs in Genomic DNA Using Long-Range PCR. Methods in Molecular Biology (Clifton, N.J.). 1551: 3-22. PMID 28138838 DOI: 10.1007/978-1-4939-6750-6_1 |
0.388 |
|
2017 |
Heissl A, Arbeithuber B, Tiemann-Boege I. High-Throughput Genotyping with TaqMan Allelic Discrimination and Allele-Specific Genotyping Assays. Methods in Molecular Biology (Clifton, N.J.). 1492: 29-57. PMID 27822855 DOI: 10.1007/978-1-4939-6442-0_3 |
0.324 |
|
2016 |
Arbeithuber B, Makova KD, Tiemann-Boege I. Artifactual mutations resulting from DNA lesions limit detection levels in ultrasensitive sequencing applications. Dna Research : An International Journal For Rapid Publication of Reports On Genes and Genomes. PMID 27477585 DOI: 10.1093/Dnares/Dsw038 |
0.463 |
|
2015 |
Arbeithuber B, Betancourt AJ, Ebner T, Tiemann-Boege I. Crossovers are associated with mutation and biased gene conversion at recombination hotspots. Proceedings of the National Academy of Sciences of the United States of America. 112: 2109-14. PMID 25646453 DOI: 10.1073/Pnas.1416622112 |
0.545 |
|
2013 |
Shinde DN, Elmer DP, Calabrese P, Boulanger J, Arnheim N, Tiemann-Boege I. New evidence for positive selection helps explain the paternal age effect observed in achondroplasia. Human Molecular Genetics. 22: 4117-26. PMID 23740942 DOI: 10.1093/Hmg/Ddt260 |
0.684 |
|
2012 |
Boulanger J, Muresan L, Tiemann-Boege I. Massively parallel haplotyping on microscopic beads for the high-throughput phase analysis of single molecules. Plos One. 7: e36064. PMID 22558329 DOI: 10.1371/Journal.Pone.0036064 |
0.354 |
|
2012 |
Meyer WK, Arbeithuber B, Ober C, Ebner T, Tiemann-Boege I, Hudson RR, Przeworski M. Evaluating the evidence for transmission distortion in human pedigrees. Genetics. 191: 215-32. PMID 22377632 DOI: 10.1534/Genetics.112.139576 |
0.358 |
|
2009 |
Tiemann-Boege I, Curtis C, Shinde DN, Goodman DB, Tavaré S, Arnheim N. Product length, dye choice, and detection chemistry in the bead-emulsion amplification of millions of single DNA molecules in parallel. Analytical Chemistry. 81: 5770-6. PMID 19601653 DOI: 10.1021/Ac900633Y |
0.632 |
|
2007 |
Arnheim N, Calabrese P, Tiemann-Boege I. Mammalian meiotic recombination hot spots. Annual Review of Genetics. 41: 369-99. PMID 18076329 DOI: 10.1146/Annurev.Genet.41.110306.130301 |
0.571 |
|
2007 |
Qin J, Calabrese P, Tiemann-Boege I, Shinde DN, Yoon SR, Gelfand D, Bauer K, Arnheim N. The molecular anatomy of spontaneous germline mutations in human testes. Plos Biology. 5: e224. PMID 17760502 DOI: 10.1371/Journal.Pbio.0050224 |
0.681 |
|
2006 |
Wyrobek AJ, Eskenazi B, Young S, Arnheim N, Tiemann-Boege I, Jabs EW, Glaser RL, Pearson FS, Evenson D. Advancing age has differential effects on DNA damage, chromatin integrity, gene mutations, and aneuploidies in sperm. Proceedings of the National Academy of Sciences of the United States of America. 103: 9601-6. PMID 16766665 DOI: 10.1073/Pnas.0506468103 |
0.629 |
|
2006 |
Tiemann-Boege I, Calabrese P, Cochran DM, Sokol R, Arnheim N. High-resolution recombination patterns in a region of human chromosome 21 measured by sperm typing. Plos Genetics. 2: e70. PMID 16680198 DOI: 10.1371/Journal.Pgen.0020070 |
0.55 |
|
2006 |
Wyrobek AJ, Eskenazi B, Young S, Arnheim N, Tiemann-Boege I, Jabs EW, Glaser RL, Pearson FS, Evenson D. Advancing Age Has Differential Effects on DNA Damage, Chromatin Integrity, Gene Mutations, and Aneuploidies in Sperm Obstetrical & Gynecological Survey. 61: 648-649. DOI: 10.1097/01.Ogx.0000238646.91712.3E |
0.612 |
|
2002 |
Tiemann-Boege I, Navidi W, Grewal R, Cohn D, Eskenazi B, Wyrobek AJ, Arnheim N. The observed human sperm mutation frequency cannot explain the achondroplasia paternal age effect. Proceedings of the National Academy of Sciences of the United States of America. 99: 14952-7. PMID 12397172 DOI: 10.1073/Pnas.232568699 |
0.65 |
|
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