Institut für Humangenetik

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  • 2023 | Journal Article | 
    ​ ​The genetic spectrum of congenital ocular motor apraxia type Cogan: an observational study, continued​
    Schröder, S.; Yigit, G.; Li, Y.; Altmüller, J.; Büttel, H.-M.; Fiedler, B. & Kretzschmar, C. et al.​ (2023) 
    Orphanet Journal of Rare Diseases, 18(1) art. 101​.​ DOI: https://doi.org/10.1186/s13023-023-02706-5 
    ​Details  DOI  PMID  PMC 
  • 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 | 
    ​ ​Small and long RNA transcriptome of whole human cerebrospinal fluid and serum as compared to their extracellular vesicle fractions reveal profound differences in expression patterns and impacts on biological processes​
    Michel, U. ; Shomroni, O. ; Müller, B.; Lange, P. ; Salinas, G. ; Bähr, M.   & Koch, J.-C. ​ (2022) 
    Journal of Translational Medicine, 20(1) art. 413​.​ DOI: https://doi.org/10.1186/s12967-022-03612-3 
    ​Details  DOI 
  • 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
    ​ ​Die GfH-Juniorakademie 2021 – Persönliche Begegnungen wieder möglich gemacht​
    Maier, F.; Forstner, A.; Korte, M.; Rey-Thol, L.; Meyer, R. & Schnabel, F.​ (2022) 
    Medizinische Genetik, 33(4) pp. 363​-366​.​ DOI: https://doi.org/10.1515/medgen-2021-2104 
    ​Details  DOI 
  • 2022 | Journal Article | 
    ​ ​Early‐onset osteoporosis: Rare monogenic forms elucidate the complexity of disease pathogenesis beyond type I collagen​
    Costantini, A.; Mäkitie, R. E.; Hartmann, M. A.; Fratzl‐Zelman, N.; Zillikens, M. C.; Kornak, U.   & Søe, K. et al.​ (2022) 
    Journal of Bone and Mineral Research, art. jbmr.4668​.​ DOI: https://doi.org/10.1002/jbmr.4668 
    ​Details  DOI 
  • 2022 | Journal Article | 
    ​ ​Tumor suppressive functions of WNT5A in rhabdomyosarcoma​
    Ragab, N.; Bauer, J.; Uhmann, A.; Marx, A.; Hahn, H. E.   & Simon-Keller, K.​ (2022) 
    International Journal of Oncology, 61(3).​ DOI: https://doi.org/10.3892/ijo.2022.5392 
    ​Details  DOI 
  • 2022 | Journal Article
    ​ ​Short-Term Test for Toxicogenomic Analysis of Ecotoxic Modes of Action in Lemna minor​
    Loll, A.; Reinwald, H.; Ayobahan, S. U.; Göckener, B.; Salinas, G. ; Schäfers, C. & Schlich, K. et al.​ (2022) 
    Environmental Science & Technology, 56(16) pp. 11504​-11515​.​ DOI: https://doi.org/10.1021/acs.est.2c01777 
    ​Details  DOI 
  • 2022 | Journal Article | 
    ​ ​Identification of chicken LOC420478 as Bucky ball equivalent and potential germ plasm organizer in birds​
    Klein, S.; Dosch, R.; Altgilbers, S. & Kues, W. A.​ (2022) 
    Scientific Reports, 12(1).​ DOI: https://doi.org/10.1038/s41598-022-21239-8 
    ​Details  DOI 
  • 2022 | 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.​ (2022) 
    Genetics in Medicine, 24(10) pp. 2187​-2193​.​ DOI: https://doi.org/10.1016/j.gim.2022.07.012 
    ​Details  DOI 
  • 2022 | Journal Article | 
    ​ ​GGPS1-associated muscular dystrophy with and without hearing loss​
    Kaiyrzhanov, R.; Perry, L.; Rocca, C.; Zaki, M. S.; Hosny, H.; Araujo Martins Moreno, C. & Phadke, R. et al.​ (2022) 
    Annals of Clinical and Translational Neurology, art. acn3.51633​.​ DOI: https://doi.org/10.1002/acn3.51633 
    ​Details  DOI  PMID  PMC 
  • 2022 | Journal Article | 
    ​ ​Skeletal Class III Malocclusion Is Associated with ADAMTS2 Variants and Reduced Expression in a Familial Case​
    Yao, S.; Zhou, X.; Vona, B.; Fan, L.; Zhang, C.; Li, D. & Yuan, H. et al.​ (2022) 
    International Journal of Molecular Sciences, 23(18) pp. 10673​.​ DOI: https://doi.org/10.3390/ijms231810673 
    ​Details  DOI  PMID  PMC 
  • 2021 | Journal Article | Research Paper | 
    ​ ​Transcriptome Analysis of Hypoxic Lymphatic Endothelial Cells Indicates Their Potential to Contribute to Extracellular Matrix Rearrangement​
    Becker, J.; Schwoch, S.; Zelent, C.; Sitte, M.; Salinas, G. & Wilting, J.​ (2021) 
    Cells, 10(5).​ DOI: https://doi.org/10.3390/cells10051008 
    ​Details  DOI 
  • 2021 | Journal Article | Research Paper | 
    ​ ​Comparing a Novel Malformation Syndrome Caused by Pathogenic Variants in FBRSL1 to AUTS2 Syndrome​
    Pauli, S.; Berger, H.; Ufartes, R. & Borchers, A.​ (2021) 
    Frontiers in Cell and Developmental Biology, 9.​ DOI: https://doi.org/10.3389/fcell.2021.779009 
    ​Details  DOI 
  • 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 | 
    ​ ​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 
  • 2018 | Journal Article | 
    ​ ​Multiple, Multiloculated, and Recurrent Keratocysts of the Mandible and Maxilla in Association with Gorlin-Goltz (Nevoid Basal-Cell Carcinoma) Syndrome: A Pediatric Case Report and Follow-up over 5 Years​
    Santander, P.; Schwaibold, E. M. C.; Bremmer, F.; Batschkus, S. & Kauffmann, P.​ (2018) 
    Case Reports in Dentistry, 2018 pp. 1​-8​.​ DOI: https://doi.org/10.1155/2018/7594840 
    ​Details  DOI 
  • 2018 | Journal Article | 
    ​ ​Testosterone metabolites inhibit proliferation of castration- and therapy-resistant prostate cancer​
    Bremmer, F.; Jarry, H.; Unterkircher, V.; Kaulfuss, S.; Burfeind, P.; Radzun, H.-J. & Ströbel, P. et al.​ (2018) 
    Oncotarget, 9(24) pp. 16951​-16961​.​ DOI: https://doi.org/10.18632/oncotarget.24763 
    ​Details  DOI 
  • 2018 | Journal Article | 
    ​ ​Workshop on Germ Cells​
    Dosch, R.​ (2018) 
    Frontiers in Cell and Developmental Biology, 6 art. 157​.​ DOI: https://doi.org/10.3389/fcell.2018.00157 
    ​Details  DOI 
  • 2018 | Journal Article | 
    ​ ​Different Response of Ptch Mutant and Ptch Wildtype Rhabdomyosarcoma Toward SMO and PI3K Inhibitors​
    Geyer, N.; Ridzewski, R.; Bauer, J.; Kuzyakova, M.; Dittmann, K.; Dullin, C. & Rosenberger, A.  et al.​ (2018) 
    Frontiers in Oncology, 8 art. 396​.​ DOI: https://doi.org/10.3389/fonc.2018.00396 
    ​Details  DOI 
  • 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 | 
    ​ ​Down syndrome phenotype in a boy with a mosaic microduplication of chromosome 21q22​
    Schnabel, F.; Smogavec, M.; Funke, R.; Pauli, S.; Burfeind, P. & Bartels, I.​ (2018) 
    Molecular Cytogenetics, 11(1) art. 62​.​ DOI: https://doi.org/10.1186/s13039-018-0410-4 
    ​Details  DOI  PMID  PMC 
  • 2018 | Journal Article | 
    ​ ​PIK3CA mutations are specifically localized to lymphatic endothelial cells of lymphatic malformations​
    Blesinger, H.; Kaulfuß, S.; Aung, T.; Schwoch, S.; Prantl, L.; Rößler, J. & Wilting, J. et al.​ (2018) 
    PLOS ONE, 13(7) art. e0200343​.​ DOI: https://doi.org/10.1371/journal.pone.0200343 
    ​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 
  • 2018 | Journal Article | 
    ​ ​The ARID1B spectrum in 143 patients: from nonsyndromic intellectual disability to Coffin–Siris syndrome​
    van der Sluijs, P. J.; Jansen, S.; Vergano, S. A.; Adachi-Fukuda, M.; Alanay, Y.; AlKindy, A. & Baban, A. et al.​ (2018) 
    Genetics in Medicine, 21(6) pp. 1295​-1307​.​ DOI: https://doi.org/10.1038/s41436-018-0330-z 
    ​Details  DOI  PMID  PMC 

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