Prof. Dr. Bernd Wollnik

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  • 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 | 
    ​ ​TP53-Status-Dependent Oncogenic EZH2 Activity in Pancreatic Cancer​
    Versemann, L. ; Patil, S.; Steuber, B. ; Zhang, Z.; Kopp, W.; Krawczyk, H. E. & Kaulfuß, S.  et al.​ (2022) 
    Cancers, 14(14).​ DOI: https://doi.org/10.3390/cancers14143451 
    ​Details  DOI 
  • 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 | 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 | Journal Article | 
    ​ ​Deletion of the last two exons of FGF10 in a family with LADD syndrome and pulmonary acinar hypoplasia​
    Wade, E. M.; Parthasarathy, P.; Mi, J.; Morgan, T.; Wollnik, B. ; Robertson, S. P. & Cundy, T.​ (2021) 
    European Journal of Human Genetics,.​ DOI: https://doi.org/10.1038/s41431-021-00902-0 
    ​Details  DOI 
  • 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 | 
    ​ ​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 | 
    ​ ​Homozygous frameshift mutations in FAT1 cause a syndrome characterized by colobomatous-microphthalmia, ptosis, nephropathy and syndactyly​
    Lahrouchi, N.; George, A.; Ratbi, I.; Schneider, R.; Elalaoui, S. C.; Moosa, S. & Bharti, S. et al.​ (2019) 
    Nature Communications, 10(1) art. 1180​.​ DOI: https://doi.org/10.1038/s41467-019-08547-w 
    ​Details  DOI 
  • 2019 | Journal Article | 
    ​ ​HACE1 deficiency leads to structural and functional neurodevelopmental defects​
    Nagy, V.; Hollstein, R.; Pai, T.-P.; Herde, M. K.; Buphamalai, P.; Moeseneder, P. & Lenartowicz, E. et al.​ (2019) 
    Neurology Genetics, 5(3) pp. e330​.​ DOI: https://doi.org/10.1212/NXG.0000000000000330 
    ​Details  DOI 
  • 2019 | Journal Article | 
    ​ ​Novel PNKP mutations causing defective DNA strand break repair and PARP1 hyperactivity in MCSZ​
    Kalasova, I.; Hanzlikova, H.; Gupta, N.; Li, Y. ; Altmüller, J.; Reynolds, J. J. & Stewart, G. S. et al.​ (2019) 
    Neurology Genetics, 5(2) pp. e320​.​ DOI: https://doi.org/10.1212/NXG.0000000000000320 
    ​Details  DOI 
  • 2019 | Journal Article | 
    ​ ​PEDIA: prioritization of exome data by image analysis​
    Hsieh, T.-C.; Mensah, M. A; Pantel, J. T; Aguilar, D.; Bar, O.; Bayat, A. & Becerra-Solano, L. et al.​ (2019) 
    Genetics in Medicine, 21(12) pp. 2807​-2814​.​ DOI: https://doi.org/10.1038/s41436-019-0566-2 
    ​Details  DOI  PMID  PMC 
  • 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 
  • 2018 | Journal Article | Research Paper | 
    ​ ​Mutations in TOP3A Cause a Bloom Syndrome-like Disorder​
    Martin, C.-A.; Sarlós, K.; Logan, C. V.; Thakur, R. S.; Parry, D. A.; Bizard, A. H. & Leitch, A. et al.​ (2018) 
    The American Journal of Human Genetics, 103(2) pp. 221​-231​.​ DOI: https://doi.org/10.1016/j.ajhg.2018.07.001 
    ​Details  DOI  PMID  PMC 
  • 2018 | Journal Article | 
    ​ ​Mutational Landscapes and Phenotypic Spectrum of SWI/SNF-Related Intellectual Disability Disorders​
    Bögershausen, N. & Wollnik, B. ​ (2018) 
    Frontiers in Molecular Neuroscience, 11 art. 252​.​ DOI: https://doi.org/10.3389/fnmol.2018.00252 
    ​Details  DOI  PMID  PMC 
  • 2017 | Journal Article | 
    ​ ​CDK10 Mutations in Humans and Mice Cause Severe Growth Retardation, Spine Malformations, and Developmental Delays​
    Windpassinger, C.; Piard, J.; Bonnard, C.; Alfadhel, M.; Lim, S.; Bisteau, X. & Blouin, S. et al.​ (2017) 
    The American Journal of Human Genetics, 101(3) pp. 391​-403​.​ DOI: https://doi.org/10.1016/j.ajhg.2017.08.003 
    ​Details  DOI 
  • 2017 | Journal Article | Research Paper | 
    ​ ​Catecholamine-Dependent β-Adrenergic Signaling in a Pluripotent Stem Cell Model of Takotsubo Cardiomyopathy​
    Borchert, T. ; Hübscher, D. ; Guessoum, C. I. ; Lam, T. Lam, Tuan-Dinh D.; Ghadri, J. R.; Schellinger, I. N.   & Tiburcy, M.  et al.​ (2017) 
    Journal of the American College of Cardiology, 70(8) pp. 975​-991​.​ DOI: https://doi.org/10.1016/j.jacc.2017.06.061 
    ​Details  DOI  PMID  PMC 
  • 2016 | Journal Article | Research Paper | 
    ​ ​X-Ray Micro- and Nanodiffraction Imaging on Human Mesenchymal Stem Cells and Differentiated Cells​
    Bernhardt, M.; Priebe, M. ; Osterhoff, M. ; Wollnik, B. ; Diaz, A.; Salditt, T.   & Rehfeldt, F. ​ (2016) 
    Biophysical Journal, 110(3) pp. 680​-690​.​ DOI: https://doi.org/10.1016/j.bpj.2015.12.017 
    ​Details  DOI  PMID  PMC  WoS 
  • 2016 | Journal Article | 
    ​ ​Tumor suppression in basal keratinocytes via dual non-cell-autonomous functions of a Na,K-ATPase beta subunit​
    Hatzold, J.; Beleggia, F.; Herzig, H.; Altmüller, J.; Nürnberg, P.; Bloch, W. & Wollnik, B.  et al.​ (2016) 
    eLife, 5 art. e14277​.​ DOI: https://doi.org/10.7554/eLife.14277 
    ​Details  DOI  PMID  PMC 
  • 2013 | Journal Article | Erratum | 
    ​ ​Erratum to: A hypofunctional PAX1 mutation causes autosomal recessively inherited otofaciocervical syndrome​
    Pohl, E.; Aykut, A.; Beleggia, F.; Karaca, E.; Durmaz, B.; Keupp, K. & Arslan, E. et al.​ (2013) 
    Human Genetics, 132(11) pp. 1321​-1321​.​ DOI: https://doi.org/10.1007/s00439-013-1341-0 
    ​Details  DOI 
  • 2012 | Journal Article | 
    ​ ​Progeroide Erkrankungen und ihre Mechanismen​
    Wollnik, B.   & Kornak, U. ​ (2012) 
    Medizinische Genetik, 24(4) pp. 253​-256​.​ DOI: https://doi.org/10.1007/s11825-012-0350-z 
    ​Details  DOI 
  • 2012 | Journal Article | Research Paper | 
    ​ ​A large duplication involving the IHH locus mimics acrocallosal syndrome​
    Yüksel Apak, M.; Boegershausen, N.; Pawlik, B.; Li, Y. ; Apak, S.; Uyguner, O. & Milz, E. et al.​ (2012) 
    European Journal of Human Genetics, 20(6) pp. 639​-644​.​ DOI: https://doi.org/10.1038/ejhg.2011.250 
    ​Details  DOI  PMID  PMC  WoS 
  • 2006 | Journal Article | Erratum | 
    ​ ​Erratum: Mutations in different components of FGF signaling in LADD syndrome​
    Rohmann, E.; Brunner, H. G; Kayserili, H.; Uyguner, O.; Nürnberg, G.; Lew, E. D & Dobbie, A. et al.​ (2006) 
    Nature Genetics, 38(4) pp. 495​-495​.​ DOI: https://doi.org/10.1038/ng0406-495 
    ​Details  DOI 

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