Author Schmidt, Julia

• 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 
  ​Details  DOI 

• 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 
  ​Details  DOI 

• 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 
  ​Details  DOI 

• 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 
  ​Details  DOI  PMID  PMC 

• 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 
  ​Details  DOI  PMID  PMC 

• 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 
  ​Details  DOI 

• 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 
  ​Details  DOI  PMID  PMC 

• 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 
  ​Details  DOI  PMID  PMC 

• 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 
  ​Details  DOI 

• 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 
  ​Details  DOI 

• 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 
  ​Details  DOI  PMID  PMC 

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