Author Schmidt, Julia
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2015 | Journal Article
Periodontal Bacterial DNA and Their Link to Human Cardiac Tissue: Findings of a Pilot Study
Ziebolz, D.; Rost, C.; Schmidt, J.; Waldmann-Beushausen, R.; Schöndube, F.; Mausberg, R. & Danner, B. (2015)
The Thoracic and Cardiovascular Surgeon, 66(01) pp. 083-090. DOI: https://doi.org/10.1055/s-0035-1564689
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2021 | Preprint
Single-cell transcription profiles in Bloom syndrome patients link BLM deficiency with altered condensin complex expression signatures
Gönenc, I. I.; Wolff, A.; Schmidt, J.; Zibat, A.; Müller, C.; Cyganek, L. & Argyriou, L. et al. (2021). DOI: https://doi.org/10.1101/2021.10.01.462717
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2021 | Preprint
A novel single-cell RNA-sequencing platform and its applicability connecting genotype to phenotype in ageing-disease
Shomroni, O.; Sitte, M.; Schmidt, J.; Parbin, S.; Ludewig, F.; Yigit, G.& Zelarayan, L. C. et al. (2021). DOI: https://doi.org/10.21203/rs.3.rs-957427/v1
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2021 | Journal Article | Research Paper |
Biallelic variants in YRDC cause a developmental disorder with progeroid features
Schmidt, J.; Goergens, J.; Pochechueva, T.; Kotter, A.; Schwenzer, N.; Sitte, M. & Werner, G. et al. (2021)
Human Genetics, 140(12) pp. 1679-1693. DOI: https://doi.org/10.1007/s00439-021-02347-3
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2021 | Journal Article | Research Paper |
Familial cleft tongue caused by a unique translation initiation codon variant in TP63
Schmidt, J.; Schreiber, G.; Altmüller, J.; Thiele, H.; Nürnberg, P.; Li, Y. & Kaulfuß, S. et al. (2021)
European Journal of Human Genetics, 30(2) pp. 211-218. DOI: https://doi.org/10.1038/s41431-021-00967-x
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2022 | Journal Article |
The molecular evolution of spermatogenesis across mammals
Murat, F.; Mbengue, N.; Winge, S. B.; Trefzer, T.; Leushkin, E.; Sepp, M. & Cardoso-Moreira, M. et al. (2022)
Nature,. DOI: https://doi.org/10.1038/s41586-022-05547-7
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2022 | Journal Article | Research Paper |
A novel single-cell RNA-sequencing approach and its applicability connecting genotype to phenotype in ageing disease
Shomroni, O. ; Sitte, M.; Schmidt, J.; Parbin, S.; Ludewig, F. ; Yigit, G. & Zelarayan, L. C. et al. (2022)
Scientific Reports, 12(1) art. 4091. DOI: https://doi.org/10.1038/s41598-022-07874-1
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2022 | Journal Article | Research Paper |
Single-cell transcription profiles in Bloom syndrome patients link BLM deficiency with altered condensin complex expression signatures
Gönenc, I. I.; Wolff, A.; Schmidt, J.; Zibat, A.; Müller, C.; Cyganek, L. & Argyriou, L. et al. (2022)
Human Molecular Genetics,. DOI: https://doi.org/10.1093/hmg/ddab373
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2023 | Journal Article
Biallelic variants in ADAMTS15 cause a novel form of distal arthrogryposis
Boschann, F.; Cogulu, M. Ö.; Pehlivan, D.; Balachandran, S.; Vallecillo-Garcia, P.; Grochowski, C. M. & Hansmeier, N. R. et al. (2023)
Genetics in Medicine, art. 100799. DOI: https://doi.org/10.1016/j.gim.2023.100799
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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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2024 | Journal Article
Expansion of the complex genotypic and phenotypic spectrum of FGFR2-associated neurocutaneous syndromes
Schmidt, J.; Kaulfuß, S.; Ott, H.; Gaubert, M.; Reintjes, N.; Bremmer, F. & Dreha-Kulaczewski, S. et al. (2024)
Human Genetics,. DOI: https://doi.org/10.1007/s00439-023-02634-1
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