Author Hellenbroich, Yorck
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2013 | Journal Article | Research Paper
Increasing the Yield in Targeted Next-Generation Sequencing by Implicating CNV Analysis, Non-Coding Exons and the Overall Variant Load: The Example of Retinal Dystrophies
Eisenberger, T.; Neuhaus, C.; Khan, A. O.; Decker, C.; Preising, M. N.; Friedburg, C. & Bieg, A. et al. (2013)
PLoS ONE, 8(11) art. e78496. DOI: https://doi.org/10.1371/journal.pone.0078496
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2014 | Journal Article |
High mutation detection rates in cerebral cavernous malformation upon stringent inclusion criteria: one-third of probands are minors.
Spiegler, S.; Najm, J.; Liu, J.; Gkalympoudis, S.; Schröder, W.; Borck, G. & Brockmann, K. et al. (2014)
Molecular genetics & genomic medicine, 2(2) pp. 176-185. DOI: https://doi.org/10.1002/mgg3.60
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2016 | Journal Article
Constitutional de novo and postzygotic mutations in isolated cases of cerebral cavernous malformations
Rath, M.; Spiegler, S.; Nath, N.; Schwefel, K.; Di Donato, N.; Gerber, J. & Korenke, G. C. et al. (2016)
Molecular Genetics & Genomic Medicine, 5(1) pp. 21-27. DOI: https://doi.org/10.1002/mgg3.256
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2019 | Journal Article |
Identification of the recently described plasminogen gene mutation p.Lys330Glu in a family from Northern Germany with hereditary angioedema
Recke, A.; Massalme, E. G.; Jappe, U.; Steinmüller-Magin, L.; Schmidt, J. ; Hellenbroich, Y. & Hüning, I. et al. (2019)
Clinical and Translational Allergy, 9(1) art. 9. DOI: https://doi.org/10.1186/s13601-019-0247-x
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2023 | Journal Article
Phenotypic specificity in patients with neurodevelopmental delay does not correlate with diagnostic yield of trio-exome sequencing
Baalmann, N.; Spielmann, M.; Gillessen- Kaesbach, G.; Hanker, B.; Schmidt, J.; Lill, C. M. & Hellenbroich, Y. et al. (2023)
European Journal of Medical Genetics, art. 104774. DOI: https://doi.org/10.1016/j.ejmg.2023.104774
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