Harald Niederstätter

Summary

Affiliation: Innsbruck Medical University
Country: Austria

Publications

  1. pmc ReseqChip: automated integration of multiple local context probe data from the MitoChip array in mitochondrial DNA sequence assembly
    Marian Thieme
    Institute of Functional Genomics, University of Regensburg, Josef Engert Str, 9, D 93053 Regensburg, Germany
    BMC Bioinformatics 10:440. 2009
  2. pmc Fluorescent duplex allele-specific PCR and amplicon melting for rapid homogeneous mtDNA haplogroup H screening and sensitive mixture detection
    Harald Niederstätter
    Institute of Legal Medicine, Innsbruck Medical University, Innsbruck, Austria
    PLoS ONE 4:e8374. 2009
  3. ncbi Separate analysis of DYS385a and b versus conventional DYS385 typing: is there forensic relevance?
    Harald Niederstätter
    Institute of Legal Medicine, Medical University of Innsbruck, Mullerstrasse 44, 6020 Innsbruck, Austria
    Int J Legal Med 119:1-9. 2005
  4. ncbi Molecular characterization and Austrian Caucasian population data of the multi-copy Y-chromosomal STR DYS464
    Burkhard Berger
    Institute of Legal Medicine, University of Innsbruck, Mullerstrasse 44, A 6020 Innsbruck, Austria
    Forensic Sci Int 137:221-30. 2003
  5. doi Influence of serotonin transporter genotype and catechol-O-methyltransferase Val158Met polymorphism on recognition of emotional faces
    Michaela Defrancesco
    Department of General Psychiatry, Innsbruck Medical University, Innsbruck, Austria
    J Int Neuropsychol Soc 17:1014-20. 2011
  6. doi The next generation of DNA profiling--STR typing by multiplexed PCR--ion-pair RP LC-ESI time-of-flight MS
    Florian Pitterl
    Institute of Legal Medicine, Innsbruck Medical University, Innsbruck, Austria
    Electrophoresis 29:4739-50. 2008
  7. ncbi Dissection of mitochondrial superhaplogroup H using coding region SNPs
    Anita Brandstätter
    Institute of Legal Medicine, Innsbruck Medical University, Austria
    Electrophoresis 27:2541-50. 2006
  8. ncbi Y-STR typing of an Austrian population sample using a 17-loci multiplex PCR assay
    Burkhard Berger
    Institute of Legal Medicine, Innsbruck Medical University, Mullerstrasse 44, 6020, Innsbruck, Austria
    Int J Legal Med 119:241-6. 2005
  9. ncbi A modular real-time PCR concept for determining the quantity and quality of human nuclear and mitochondrial DNA
    Harald Niederstätter
    Institute of Legal Medicine, Innsbruck Medical University, Innsbruck, Austria
    Forensic Sci Int Genet 1:29-34. 2007
  10. ncbi Profiling 627 mitochondrial nucleotides via the analysis of a 23-plex polymerase chain reaction by liquid chromatography-electrospray ionization time-of-flight mass spectrometry
    Herbert Oberacher
    Institute of Legal Medicine, Innsbruck Medical University, Muellerstrasse 44, 6020 Innsbruck, Austria
    Anal Chem 78:7816-27. 2006

Collaborators

Detail Information

Publications38

  1. pmc ReseqChip: automated integration of multiple local context probe data from the MitoChip array in mitochondrial DNA sequence assembly
    Marian Thieme
    Institute of Functional Genomics, University of Regensburg, Josef Engert Str, 9, D 93053 Regensburg, Germany
    BMC Bioinformatics 10:440. 2009
    ..In addition, the MitoChip v2.0 carries alternative local context probes to account for known mtDNA variants. These probes have been neglected in most studies due to the lack of software for their automated analysis...
  2. pmc Fluorescent duplex allele-specific PCR and amplicon melting for rapid homogeneous mtDNA haplogroup H screening and sensitive mixture detection
    Harald Niederstätter
    Institute of Legal Medicine, Innsbruck Medical University, Innsbruck, Austria
    PLoS ONE 4:e8374. 2009
    ..Here the properties of a homogeneous competitive duplex allele specific PCR (ARMS) assay were scrutinized in the light of these requirements...
  3. ncbi Separate analysis of DYS385a and b versus conventional DYS385 typing: is there forensic relevance?
    Harald Niederstätter
    Institute of Legal Medicine, Medical University of Innsbruck, Mullerstrasse 44, 6020 Innsbruck, Austria
    Int J Legal Med 119:1-9. 2005
    ..Furthermore, the amplicon lengths of 700-780 base pairs obtained in the course of the locus-discriminating approach restrict the applicability of this amplification strategy to high quality DNA samples...
  4. ncbi Molecular characterization and Austrian Caucasian population data of the multi-copy Y-chromosomal STR DYS464
    Burkhard Berger
    Institute of Legal Medicine, University of Innsbruck, Mullerstrasse 44, A 6020 Innsbruck, Austria
    Forensic Sci Int 137:221-30. 2003
    ..The mutation-rate estimate based on the 70 meioses analyzed amounts to 2.86 x 10(-2) (95% confidence interval 3.5 x 10(-3) to 9.95 x 10(-2)). This value is approximately 10 times higher than the average mutation-rate estimate for Y-STRs...
  5. doi Influence of serotonin transporter genotype and catechol-O-methyltransferase Val158Met polymorphism on recognition of emotional faces
    Michaela Defrancesco
    Department of General Psychiatry, Innsbruck Medical University, Innsbruck, Austria
    J Int Neuropsychol Soc 17:1014-20. 2011
    ..Moreover, there was no significant interaction between the two polymorphisms in their effect on performance on the ER40 or the PEAT...
  6. doi The next generation of DNA profiling--STR typing by multiplexed PCR--ion-pair RP LC-ESI time-of-flight MS
    Florian Pitterl
    Institute of Legal Medicine, Innsbruck Medical University, Innsbruck, Austria
    Electrophoresis 29:4739-50. 2008
    ....
  7. ncbi Dissection of mitochondrial superhaplogroup H using coding region SNPs
    Anita Brandstätter
    Institute of Legal Medicine, Innsbruck Medical University, Austria
    Electrophoresis 27:2541-50. 2006
    ....
  8. ncbi Y-STR typing of an Austrian population sample using a 17-loci multiplex PCR assay
    Burkhard Berger
    Institute of Legal Medicine, Innsbruck Medical University, Mullerstrasse 44, 6020, Innsbruck, Austria
    Int J Legal Med 119:241-6. 2005
    ..Because the simultaneous analysis of 17 Y-STR systems offers a high power of discrimination at minimum sample consumption, the Yfiler kit is a promising tool for forensic applications...
  9. ncbi A modular real-time PCR concept for determining the quantity and quality of human nuclear and mitochondrial DNA
    Harald Niederstätter
    Institute of Legal Medicine, Innsbruck Medical University, Innsbruck, Austria
    Forensic Sci Int Genet 1:29-34. 2007
    ..A hematin model was used to test the ability of the quantitative real-time (rtq) PCR system to predict the effects of inhibitors in downstream PCR-based genotyping...
  10. ncbi Profiling 627 mitochondrial nucleotides via the analysis of a 23-plex polymerase chain reaction by liquid chromatography-electrospray ionization time-of-flight mass spectrometry
    Herbert Oberacher
    Institute of Legal Medicine, Innsbruck Medical University, Muellerstrasse 44, 6020 Innsbruck, Austria
    Anal Chem 78:7816-27. 2006
    ..The observed robustness and sensitivity underlined the practical applicability of the assay in forensic science, which was proven by typing eight representative casework samples...
  11. ncbi Single nucleotide polymorphism genotyping by on-line liquid chromatography-mass spectrometry in forensic science of the Y-chromosomal locus M9
    Burkhard Berger
    Institute of Legal Medicine, Leopold Franzens University, Mullerstrasse 44, A 6020 Innsbruck, Austria
    J Chromatogr B Analyt Technol Biomed Life Sci 782:89-97. 2002
    ..007%, n=20) of mass measurements, which enables even the differentiation of A and T alleles with a mass difference of 9 mass units, make IP-RP-HPLC-ESI-MS a potent tool for the routine characterization of SNPs in forensic science...
  12. ncbi Increased forensic efficiency of DNA fingerprints through simultaneous resolution of length and nucleotide variability by high-performance mass spectrometry
    Herbert Oberacher
    Institute of Legal Medicine, Innsbruck Medical University, Innsbruck, Austria
    Hum Mutat 29:427-32. 2008
    ....
  13. ncbi Generating population data for the EMPOP database - an overview of the mtDNA sequencing and data evaluation processes considering 273 Austrian control region sequences as example
    Anita Brandstätter
    Institute of Legal Medicine, Innsbruck Medical University, Mullerstr 44, 6020 Innsbruck, Austria
    Forensic Sci Int 166:164-75. 2007
    ..Most of the haplotypes in Austrians fell into haplogroups H, J, K, T, and U. The random match probability in Austrians was 1:125; the average number of nucleotide differences between individuals in the Austrian database was 9.32...
  14. doi Frequency data for 17 Y-chromosomal STRs and 19 Y-chromosomal SNPs in the Tyrolean district of Reutte, Austria
    Daniel Erhart
    Institute of Legal Medicine, Innsbruck Medical University, Innsbruck, Austria
    Int J Legal Med 126:977-8. 2012
    ..8736. Further, samples were typed with a selection of 19 Y-SNPs to establish the haplogroup background. Data are available in the Y chromosome haplotype reference database under accession number YA003715...
  15. ncbi Characterization of mtDNA SNP typing and mixture ratio assessment with simultaneous real-time PCR quantification of both allelic states
    Harald Niederstätter
    Institute of Legal Medicine, Innsbruck Medical University, Mullerstrasse 44, 6020, Innsbruck, Austria
    Int J Legal Med 120:18-23. 2006
    ....
  16. ncbi Differential effect of catechol-O-methyltransferase Val158Met genotype on emotional recognition abilities in healthy men and women
    Elisabeth M Weiss
    Department of General Psychiatry, Innsbruck Medical, Innsbruck, Austria
    J Int Neuropsychol Soc 13:881-7. 2007
    ..Additional research is needed to further define the neurocognitive phenotypes associated with COMT polymorphisms...
  17. ncbi Liquid chromatography-electrospray ionization mass spectrometry for simultaneous detection of mtDNA length and nucleotide polymorphisms
    Herbert Oberacher
    Institute of Legal Medicine, Innsbruck Medical University, Mullerstrasse 44, 6020, Innsbruck, Austria
    Int J Legal Med 121:57-67. 2007
    ..Hence, ICEMS represents an interesting option for successful application in forensic science...
  18. ncbi Unravelling the mystery of Nanga Parbat
    Walther Parson
    Institute of Legal Medicine, Innsbruck Medical University, 6020 Innsbruck, Austria
    Int J Legal Med 121:309-10. 2007
    ..The location of the remains supports Messner's version, thus putting to rest one of the climbing communities' most publicised controversies...
  19. ncbi Some guidelines for the analysis of genomic DNA by PCR-LC-ESI-MS
    Herbert Oberacher
    Institute of Legal Medicine, Innsbruck Medical University, Innsbruck, Austria
    J Am Soc Mass Spectrom 17:124-9. 2006
    ....
  20. ncbi DNA extraction and quantitation of forensic samples using the phenol-chloroform method and real-time PCR
    Silvano Köchl
    Institute of Legal Medicine, University of Innsbruck, Innsbruck, Austria
    Methods Mol Biol 297:13-30. 2005
    ..The quantitation system is accomplished as a modular concept, which allows for the combined determination of the above-mentioned features (quantity/inhibition or quantity/degradation) depending on the situation...
  21. ncbi Direct molecular haplotyping of multiple polymorphisms within exon 4 of the human catechol-O-methyltransferase gene by liquid chromatography-electrospray ionization time-of-flight mass spectrometry
    Herbert Oberacher
    Institute of Legal Medicine, Innsbruck Medical University, Muellerstrasse 44, 6020, Innsbruck, Austria
    Anal Bioanal Chem 386:83-91. 2006
    ....
  22. doi Accumulation of mutations over the entire mitochondrial genome of breast cancer cells obtained by tissue microdissection
    Liane Fendt
    Institute of Legal Medicine, Innsbruck Medical University, Innsbruck, Austria
    Breast Cancer Res Treat 128:327-36. 2011
    ..We identified somatic mutations over the entire mtDNA of human breast cancer cells potentially impairing the mitochondrial OXPHOS system...
  23. doi "GenderPlex" a PCR multiplex for reliable gender determination of degraded human DNA samples and complex gender constellations
    Anna Esteve Codina
    Institute of Legal Medicine, Innsbruck Medical University, Mullerstrasse 44, 6020 Innsbruck, Austria
    Int J Legal Med 123:459-64. 2009
    ..Finally, the performance of the GenderPlex was evaluated on a west Eurasian population sample from Austria comprising 166 male and 104 female individuals...
  24. doi Reprint of: high resolution mapping of Y haplogroup G in Tyrol (Austria)
    Burkhard Berger
    Institute of Legal Medicine, Innsbruck Medical University, Innsbruck, Austria
    Forensic Sci Int Genet 7:624-31. 2013
    ....
  25. doi Multiple recurrent mutations at four human Y-chromosomal single nucleotide polymorphism sites in a 37 bp sequence tract on the ARSDP1 pseudogene
    Harald Niederstätter
    Institute of Legal Medicine, Innsbruck Medical University, Innsbruck, Austria
    Forensic Sci Int Genet 7:593-600. 2013
    ..Practical implications arising from markers exhibiting paralogues on the Y chromosome or sites with a high propensity to recurrent mutation for database searches are addressed. ..
  26. ncbi Monitoring the inheritance of heteroplasmy by computer-assisted detection of mixed basecalls in the entire human mitochondrial DNA control region
    Anita Brandstätter
    Institute of Legal Medicine, University of Innsbruck, Mullerstrasse 44, 6020 Innsbruck, Austria
    Int J Legal Med 118:47-54. 2004
    ..As technical implement, quality values assigned to basecalls were tested for their application in automated point heteroplasmy detection...
  27. doi High resolution mapping of Y haplogroup G in Tyrol (Austria)
    Burkhard Berger
    Institute of Legal Medicine, Innsbruck Medical University, Innsbruck, Austria
    Forensic Sci Int Genet 7:529-36. 2013
    ....
  28. doi Y-STR analysis on DNA mixture samples--results of a collaborative project of the ENFSI DNA Working Group
    Walther Parson
    Institute of Legal Medicine, Innsbruck Medical University, Mullerstr 44, 6020 Innsbruck, Austria
    Forensic Sci Int Genet 2:238-42. 2008
    ..The results suggest that in some cases a laboratory-specific optimization process is indicated to reach a comparable sensitivity for the analysis of minute amounts of DNA...
  29. ncbi Accurate determination of allelic frequencies in mitochondrial DNA mixtures by electrospray ionization time-of-flight mass spectrometry
    Herbert Oberacher
    Institute of Legal Medicine, Innsbruck Medical University, Muellerstrasse 44, 6020 Innsbruck, Austria
    Anal Bioanal Chem 384:1155-63. 2006
    ..4%. The overall observed assay performance suggests that the described mass spectrometric technique represents one of the most powerful assays for the determination of allelic frequencies available today...
  30. pmc Pasture names with Romance and Slavic roots facilitate dissection of Y chromosome variation in an exclusively German-speaking alpine region
    Harald Niederstätter
    Institute of Legal Medicine, Innsbruck Medical University, Innsbruck, Austria
    PLoS ONE 7:e41885. 2012
    ..The combined use of onomastic and molecular genetic data revealed and mapped the marked structuring of the distribution of Y chromosomes in an alpine region that has been culturally homogeneous for centuries...
  31. doi CYP2D6 genotyping by liquid chromatography-electrospray ionization mass spectrometry
    Beate Beer
    Institute of Legal Medicine, Innsbruck Medical University, Innsbruck, Austria
    Anal Bioanal Chem 400:2361-70. 2011
    ..For validation, a selected number of samples and polymorphic sites were retyped by alternative genotyping technologies. The PCR-ICEMS assay turned out to be an accurate, robust, and cost-effective CYP2D6 genotyping strategy...
  32. pmc Molecular genetic investigations on Austria's patron saint Leopold III
    Christiane Maria Bauer
    Institute of Legal Medicine, Innsbruck Medical University, 6020 Innsbruck, Austria
    Forensic Sci Int Genet 7:313-5. 2013
    ..A possible mix-up of Adalbert's remains with those of his younger brother Ernst could not be confirmed by DNA analysis...
  33. doi Psychosocial state after bariatric surgery is associated with the serotonin-transporter promoter polymorphism
    Michaela Defrancesco
    Department of General Psychiatry and Psychotherapy, University Hospital, Innsbruck Medical University, Anichstr 35, 6020, Innsbruck, Austria
    Eat Weight Disord 18:311-6. 2013
    ..In this study, we examined the influence of the 5-HTTLPR polymorphism on physiologic and psychosocial measures in morbidly obese women after bariatric surgery...
  34. ncbi Detection of DNA sequence variations in homo- and heterozygous samples via molecular mass measurements by electrospray ionization time-of-flight mass spectrometry
    Herbert Oberacher
    Institute of Legal Medicine, Innsbruck Medical University, 6020 Innsbruck, Austria
    Anal Chem 77:4999-5008. 2005
    ..Consequently, the described hyphenated technique represents one of the most powerful mass spectrometric genotyping assays available today...
  35. pmc Comparison of morphological and molecular genetic sex-typing on mediaeval human skeletal remains
    Christiane Maria Bauer
    Institute of Legal Medicine, Innsbruck Medical University, Innsbruck, Austria
    Forensic Sci Int Genet 7:581-6. 2013
    ..We observed a discrepancy in sex determination between the two methods in 21 cases. An unbiased follow-up morphological examination of these finds showed congruence with the DNA results in all but five samples. ..
  36. ncbi Improved specificity of Y-STR typing in DNA mixture samples
    Walther Parson
    Institute of Legal Medicine, University of Innsbruck, Mullerstrasse 44, 6020 Innsbruck, Austria
    Int J Legal Med 117:109-14. 2003
    ....
  37. ncbi A common nonsense mutation in the repetitive Kringle IV-2 domain of human apolipoprotein(a) results in a truncated protein and low plasma Lp(a)
    Walther Parson
    Institute of Forensic Medicine, Medical University of Innsbruck, Innsbruck, Austria
    Hum Mutat 24:474-80. 2004
    ..Our data show that SNPs affecting Lp(a) plasma concentrations also exist in the apo(a) K IV-2 domain...
  38. ncbi Characterization of synthetic nucleic acids by electrospray ionization quadrupole time-of-flight mass spectrometry
    Herbert Oberacher
    Institute of Legal Medicine, Innsbruck Medical University, Muellerstrasse 44, 6020 Innsbruck, Austria
    J Mass Spectrom 40:932-45. 2005
    ..The usability of LC-ESI-QqTOF-MS for the qualitative and quantitative analysis of synthetic oligonucleotide mixtures was demonstrated...