Prof. Dr. Bernd Wollnik

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unigoe
 

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  • 2023 | Preprint
    ​ ​LZTR1 polymerization provokes cardiac pathology in recessive Noonan syndrome​
    Busley, A. V.; Gutiérrez-Gutiérrez, Ó.; Hammer, E.; Steinegger, M.; Böhmer, L.; Schroeder, H.& Kleinsorge, M. et al.​ (2023). DOI: https://doi.org/10.1101/2023.01.10.523203 
    ​Details  DOI 
  • 2022 | Journal Article | 
    ​ ​Somatic mosaicism in STAG2-associated cohesinopathies: Expansion of the genotypic and phenotypic spectrum​
    Schmidt, J. ; Dreha-Kulaczewski, S. ; Zafeiriou, M. P. ; Schreiber, M.-K.; Wilken, B.; Funke, R. & Neuhofer, C. M. et al.​ (2022) 
    Frontiers in Cell and Developmental Biology, 10.​ DOI: https://doi.org/10.3389/fcell.2022.1025332 
    ​Details  DOI  PMID  PMC 
  • 2022 | Journal Article | Research Paper | 
    ​ ​WARS1 and SARS1: Two tRNA synthetases implicated in autosomal recessive microcephaly​
    Bögershausen, N.; Krawczyk, H. E.; Jamra, R. A.; Lin, S.; Yigit, G. ; Hüning, I. & Polo, A. M. et al.​ (2022) 
    Human Mutation, 43(10) pp. 1454​-1471​.​ DOI: https://doi.org/10.1002/humu.24430 
    ​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 
  • 2022 | Preprint
    ​ ​Homozygous loss-of-function variants in FILIP1 cause autosomal recessive arthrogryposis multiplex congenita​
    Schnabel, F.; Schuler, E.; Al-Maawali, A.; Chaurasia, A.; Syrbe, S.; Al-Kindi, A.& Bhav, G. S. et al.​ (2022). DOI: https://doi.org/10.21203/rs.3.rs-2121654/v1 
    ​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 | 
    ​ ​Phenotypic spectrum of BLM‐ and RMI1‐related Bloom syndrome​
    Gönenc, I. I.; Elcioglu, N. H.; Martinez Grijalva, C.; Aras, S.; Großmann, N.; Praulich, I. & Altmüller, J. et al.​ (2022) 
    Clinical Genetics, 101(5-6) pp. 559​-564​.​ DOI: https://doi.org/10.1111/cge.14125 
    ​Details  DOI  PMID  PMC 
  • 2022 | Journal Article | Research Paper | 
    ​ ​Progressive frontal intraosseous lipoma: Detection of the mosaic AKT1 variant discloses Proteus syndrome​
    Schmidt, J. ; Bremmer, F. ; Brockmann, K. ; Kaulfuß, S.   & Wollnik, B. ​ (2022) 
    Clinical Genetics, 102(3) art. cge.14174​.​ DOI: https://doi.org/10.1111/cge.14174 
    ​Details  DOI  PMID  PMC 
  • 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
    ​ ​Genomic basis of syndromic short stature in an Algerian patient cohort​
    Moosa, S.; Chentli, F.; Altmüller, J.; Bögershausen, N.; Nürnberg, P.; Yigit, G. & Li, Y. et al.​ (2021) 
    American Journal of Medical Genetics Part A,.​ DOI: https://doi.org/10.1002/ajmg.a.62532 
    ​Details  DOI  PMID  PMC 
  • 2021 | Journal Article | Overview
    ​ ​Cellular models and therapeutic perspectives in hypertrophic cardiomyopathy​
    Yigit, G. & Wollnik, B. ​ (2021) 
    Medizinische Genetik, 33(3) pp. 235​-243​.​ DOI: https://doi.org/10.1515/medgen-2021-2094 
    ​Details  DOI 
  • 2020 | Preprint
    ​ ​Overarching control of autophagy and DNA damage response by CHD6 revealed by modeling a rare human pathology​
    Kargapolova, Y.; Rehimi, R.; Kayserili, H.; Brühl, J.; Zirkel, A.; Li, Y.& Yigit, G. et al.​ (2020). DOI: https://doi.org/10.1101/2020.01.27.921171 
    ​Details  DOI 
  • 2020 | Journal Article | Research Paper
    ​ ​Aplasia cutis congenita in a CDC42 ‐ related developmental phenotype​
    Schnabel, F.; Kamphausen, S. B.; Funke, R.; Kaulfuß, S. ; Wollnik, B.   & Zenker, M.​ (2020) 
    American Journal of Medical Genetics Part A, 185(3) pp. 850​-855​.​ DOI: https://doi.org/10.1002/ajmg.a.62009 
    ​Details  DOI  PMID  PMC 
  • 2020 | Journal Article | Research Paper | 
    ​ ​A second cohort of CHD3 patients expands the molecular mechanisms known to cause Snijders Blok-Campeau syndrome​
    Drivas, T. G.; Li, D.; Nair, D.; Alaimo, J. T.; Alders, M.; Altmüller, J. & Barakat, T. S. et al.​ (2020) 
    European Journal of Human Genetics, 28(10) pp. 1422​-1431​.​ DOI: https://doi.org/10.1038/s41431-020-0654-4 
    ​Details  DOI  PMID  PMC 
  • 2020 | Journal Article | Research Paper
    ​ ​Intronic CRISPR Repair in a Preclinical Model of Noonan Syndrome–Associated Cardiomyopathy​
    Hanses, U.; Kleinsorge, M.; Roos, L.; Yigit, G. ; Li, Y. ; Barbarics, B. & El-Battrawy, I. et al.​ (2020) 
    Circulation, 142(11) pp. 1059​-1076​.​ DOI: https://doi.org/10.1161/CIRCULATIONAHA.119.044794 
    ​Details  DOI  PMID  PMC 
  • 2020 | Journal Article | Research Paper | 
    ​ ​Heterozygous truncating variants in SUFU cause congenital ocular motor apraxia​
    Schröder, S.; Li, Y. ; Yigit, G. ; Altmüller, J.; Bader, I.; Bevot, A. & Biskup, S. et al.​ (2020) 
    Genetics in Medicine, 23(2) pp. 341​-351​.​ DOI: https://doi.org/10.1038/s41436-020-00979-w 
    ​Details  DOI  PMID  PMC 
  • 2020 | Journal Article | Overview | 
    ​ ​Premature aging disorders: A clinical and genetic compendium​
    Schnabel, F.; Kornak, U.   & Wollnik, B. ​ (2020) 
    Clinical Genetics, 99(1) pp. 3​-28​.​ DOI: https://doi.org/10.1111/cge.13837 
    ​Details  DOI  PMID  PMC 
  • 2020 | Journal Article | Research Paper | 
    ​ ​De novo mutations in FBRSL1 cause a novel recognizable malformation and intellectual disability syndrome​
    Ufartes, R.; Berger, H.; Till, K.; Salinas, G. ; Sturm, M.; Altmüller, J. & Nürnberg, P. et al.​ (2020) 
    Human Genetics, 139(11) pp. 1363​-1379​.​ DOI: https://doi.org/10.1007/s00439-020-02175-x 
    ​Details  DOI  PMID  PMC 
  • 2020 | Journal Article | Research Paper | 
    ​ ​Human RAD50 deficiency: Confirmation of a distinctive phenotype​
    Ragamin, A.; Yigit, G. ; Bousset, K.; Beleggia, F.; Verheijen, F. W.; Wit, M. Y. & Strom, T. M. et al.​ (2020) 
    American Journal of Medical Genetics Part A, 182(6) pp. 1378​-1386​.​ DOI: https://doi.org/10.1002/ajmg.a.61570 
    ​Details  DOI  PMID  PMC 
  • 2020 | Journal Article | Research Paper | 
    ​ ​Bi-allelic missense disease-causing variants in RPL3L associate neonatal dilated cardiomyopathy with muscle-specific ribosome biogenesis​
    Ganapathi, M.; Argyriou, L.; Martínez-Azorín, F.; Morlot, S.; Yigit, G. ; Lee, T. M. & Auber, B. et al.​ (2020) 
    Human Genetics, 139(11) pp. 1443​-1454​.​ DOI: https://doi.org/10.1007/s00439-020-02188-6 
    ​Details  DOI  PMID  PMC 
  • 2019 | Journal Article | Research Paper
    ​ ​Autosomal-Recessive Mutations in MESD Cause Osteogenesis Imperfecta​
    Moosa, S. ; Yamamoto, G. L.; Garbes, L.; Keupp, K.; Beleza-Meireles, A.; Moreno, C. A. & Valadares, E. R. et al.​ (2019) 
    The American Journal of Human Genetics, 105(4) pp. 836​-843​.​ DOI: https://doi.org/10.1016/j.ajhg.2019.08.008 
    ​Details  DOI 
  • 2019 | Journal Article | Research Paper | 
    ​ ​The recurrent postzygotic pathogenic variant p.Glu47Lys in RHOA causes a novel recognizable neuroectodermal phenotype​
    Yigit, G. ; Saida, K.; DeMarzo, D.; Miyake, N.; Fujita, A.; Yang Tan, T. & White, S. M. et al.​ (2019) 
    Human Mutation, 41(3) pp. 591​-599​.​ DOI: https://doi.org/10.1002/humu.23964 
    ​Details  DOI  PMID  PMC 

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Project:  EXC 2067: Multiscale Bioimaging

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