Prof. Dr. Bernd Wollnik

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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 | 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 | 
    ​ ​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 
  • 2021 | Journal Article
    ​ ​Intellectual disability associated with craniofacial dysmorphism, cleft palate, and congenital heart defect due to a de novo MEIS2 mutation: A clinical longitudinal study​
    Gangfuß, A.; Yigit, G. ; Altmüller, J.; Nürnberg, P.; Czeschik, J. C.; Wollnik, B.   & Bögershausen, N. et al.​ (2021) 
    American Journal of Medical Genetics Part A, 185(4) pp. 1216​-1221​.​ DOI: https://doi.org/10.1002/ajmg.a.62070 
    ​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 
  • 2020 | Journal Article
    ​ ​A Novel Mutation in <b><i>PIGA</i></b> Associated with Multiple Congenital Anomalies-Hypotonia-Seizure Syndrome 2 (MCAHS2) in a Boy with a Combination of Severe Epilepsy and Gingival Hyperplasia​
    Neuhofer, C. M.; Funke, R.; Wilken, B.; Knaus, A.; Altmüller, J.; Nürnberg, P. & Li, Y.  et al.​ (2020) 
    Molecular Syndromology, 11(1) pp. 30​-37​.​ DOI: https://doi.org/10.1159/000505797 
    ​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 | 
    ​ ​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 | 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 
  • 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
    ​ ​Homozygosity for the c.428delG variant in KIAA0586 in a healthy individual: implications for molecular testing in patients with Joubert syndrome​
    Pauli, S. ; Altmüller, J.; Schröder, S.; Ohlenbusch, A. ; Dreha-Kulaczewski, S. ; Bergmann, C. & Nürnberg, P. et al.​ (2019) 
    Journal of Medical Genetics, 56(4) pp. 261​-264​.​ DOI: https://doi.org/10.1136/jmedgenet-2018-105470 
    ​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 | 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
    ​ ​Mutations in the BAF-Complex Subunit DPF2 Are Associated with Coffin-Siris Syndrome​
    Vasileiou, G.; Vergarajauregui, S.; Endele, S.; Popp, B.; Büttner, C.; Ekici, A. B. & Gerard, M. et al.​ (2018) 
    The American Journal of Human Genetics, 102(3) pp. 468​-479​.​ DOI: https://doi.org/10.1016/j.ajhg.2018.01.014 
    ​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 | Research Paper
    ​ ​Specific combinations of biallelic POLR3A variants cause Wiedemann-Rautenstrauch syndrome​
    Paolacci, S.; Li, Y. ; Agolini, E.; Bellacchio, E.; Arboleda-Bustos, C. E; Carrero, D. & Bertola, D. et al.​ (2018) 
    Journal of Medical Genetics, 55(12) pp. 837​-846​.​ DOI: https://doi.org/10.1136/jmedgenet-2018-105528 
    ​Details  DOI  PMID  PMC 
  • 2017 | Journal Article
    ​ ​Confirmation of CAGSSS syndrome as a distinct entity in a Danish patient with a novel homozygous mutation inIARS2​
    Moosa, S. ; Haagerup, A.; Gregersen, P. A.; Petersen, K. K.; Altmüller, J.; Thiele, H. & Nürnberg, P. et al.​ (2017) 
    American Journal of Medical Genetics Part A, 173(4) pp. 1102​-1108​.​ DOI: https://doi.org/10.1002/ajmg.a.38116 
    ​Details  DOI 
  • 2017 | Journal Article
    ​ ​Heterozygous HNRNPU variants cause early onset epilepsy and severe intellectual disability​
    Bramswig, N. C.; Lüdecke, H.-J.; Hamdan, F. F.; Altmüller, J.; Beleggia, F.; Elcioglu, N. H. & Freyer, C. et al.​ (2017) 
    Human Genetics, 136(7) pp. 821​-834​.​ DOI: https://doi.org/10.1007/s00439-017-1795-6 
    ​Details  DOI 
  • 2017 | Journal Article
    ​ ​Novel compound heterozygous mutations in TELO2 in a patient with severe expression of You-Hoover-Fong syndrome​
    Moosa, S. ; Altmüller, J.; Lyngbye, T.; Christensen, R.; Li, Y. ; Nürnberg, P. & Yigit, G.  et al.​ (2017) 
    Molecular Genetics & Genomic Medicine, 5(5) pp. 580​-584​.​ DOI: https://doi.org/10.1002/mgg3.287 
    ​Details  DOI 
  • 2017 | Journal Article
    ​ ​Metatarsal bony syndactyly in 2 fetuses with Smith-Lemli-Opitz syndrome: An under-recognized part of the clinical spectrum​
    Moosa, S. ; Loeys, B.; Altmüller, J.; Mortier, G.; Nürnberg, P.; Li, Y.   & Wollnik, B.  et al.​ (2017) 
    Clinical Genetics, 92(3) pp. 342​-343​.​ DOI: https://doi.org/10.1111/cge.12990 
    ​Details  DOI 
  • 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
    ​ ​De Novo Mutations in SLC25A24 Cause a Craniosynostosis Syndrome with Hypertrichosis, Progeroid Appearance, and Mitochondrial Dysfunction​
    Ehmke, N.; Graul-Neumann, L.; Smorag, L. ; Koenig, R.; Segebrecht, L.; Magoulas, P. & Scaglia, F. et al.​ (2017) 
    The American Journal of Human Genetics, 101(5) pp. 833​-843​.​ DOI: https://doi.org/10.1016/j.ajhg.2017.09.016 
    ​Details  DOI  PMID  PMC 
  • 2017 | Journal Article
    ​ ​De novo mutations in SMCHD1 cause Bosma arhinia microphthalmia syndrome and abrogate nasal development​
    Gordon, C. T.; Xue, S.; Yigit, G. ; Filali, H.; Chen, K.; Rosin, N.   & Yoshiura, K.-i. et al.​ (2017) 
    Nature Genetics, 49(2) pp. 249​-255​.​ DOI: https://doi.org/10.1038/ng.3765 
    ​Details  DOI  PMID  PMC 
  • 2016 | Journal Article
    ​ ​Cover Image, Volume 170A, Number 9, September 2016​
    Moosa, S. ; Fano, V.; Obregon, M. G.; Altmüller, J.; Thiele, H.; Nürnberg, P. & Nishimura, G. et al.​ (2016) 
    American Journal of Medical Genetics Part A, 170(9).​ DOI: https://doi.org/10.1002/ajmg.a.37884 
    ​Details  DOI 
  • 2016 | Journal Article
    ​ ​Smith-Kingsmore syndrome: A third family with the MTOR mutation c.5395G>A p.(Glu1799Lys) and evidence for paternal gonadal mosaicism​
    Moosa, S. ; Böhrer-Rabel, H.; Altmüller, J.; Beleggia, F.; Nürnberg, P.; Li, Y.   & Yigit, G.  et al.​ (2016) 
    American Journal of Medical Genetics Part A, 173(1) pp. 264​-267​.​ DOI: https://doi.org/10.1002/ajmg.a.37999 
    ​Details  DOI 
  • 2016 | Journal Article | Letter Note
    ​ ​A Novel Homozygous PAM16 Mutation in a Patient with a Milder Phenotype and Longer Survival​
    Moosa, S. ; Fano, V.; Obregon, M. G.; Altmüller, J.; Thiele, H.; Nürnberg, P. & Nishimura, G. et al.​ (2016) 
    American Journal of Medical Genetics, 170(9) pp. 2436​-2439​.​ DOI: https://doi.org/10.1002/ajmg.a.37823 
    ​Details  DOI  PMID  PMC  WoS 
  • 2016 | Journal Article | Research Paper
    ​ ​Novel IFT122 Mutations in Three Argentinian Patients with Cranioectodermal Dysplasia: Expanding the Mutational Spectrum​
    Moosa, S. ; Obregon, M. G.; Altmüller, J.; Thiele, H.; Nürnberg, P.; Fano, V. & Wollnik, B. ​ (2016) 
    American Journal of Medical Genetics, 170(5) pp. 1295​-1301​.​ DOI: https://doi.org/10.1002/ajmg.a.37570 
    ​Details  DOI  PMID  PMC  WoS 
  • 2016 | Journal Article | Research Paper
    ​ ​TRAIP promotes DNA damage response during genome replication and is mutated in primordial dwarfism​
    Harley, M. E.; Murina, O.; Leitch, A.; Higgs, M. R.; Bicknell, L. S.; Yigit, G.   & Blackford, A. N. et al.​ (2016) 
    Nature Genetics, 48(1) pp. 36​-+​.​ DOI: https://doi.org/10.1038/ng.3451 
    ​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 
  • 2016 | Journal Article | Research Paper
    ​ ​A systematic comparison of two new releases of exome sequencing products: the aim of use determines the choice of product​
    Altmüller, J.; Motameny, S.; Becker, C.; Thiele, H.; Chatterjee, S.; Wollnik, B.   & Nürnberg, P.​ (2016) 
    Biological Chemistry, 397(8) pp. 791​-801​.​ DOI: https://doi.org/10.1515/hsz-2015-0300 
    ​Details  DOI  PMID  PMC  WoS 
  • 2016 | Journal Article | Research Paper
    ​ ​A Syndrome of Microcephaly, Short Stature, Polysyndactyly, and Dental Anomalies Caused by a Homozygous KATNB1 Mutation​
    Yigit, G. ; Wieczorek, D.; Boegershausen, N.; Beleggia, F.; Moeller-Hartmann, C.; Altmüller, J. & Thiele, H. et al.​ (2016) 
    American Journal of Medical Genetics, 170(3) pp. 728​-733​.​ DOI: https://doi.org/10.1002/ajmg.a.37484 
    ​Details  DOI  PMID  PMC  WoS 
  • 2016 | Journal Article
    ​ ​An Unusual Presentation of Kabuki Syndrome with Orbital Cysts, Microphthalmia, and Cholestasis with Bile Duct Paucity​
    Bögershausen, N.; Altunoglu, U.; Beleggia, F.; Yigit, G. ; Kayserili, H.; Nürnberg, P. & Li, Y.  et al.​ (2016) 
    American Journal of Medical Genetics, 170(12) pp. 3282​-3288​.​ DOI: https://doi.org/10.1002/ajmg.a.37931 
    ​Details  DOI  PMID  PMC  WoS 
  • 2015 | Journal Article | Research Paper
    ​ ​Mutations in XRCC4 cause primary microcephaly, short stature and increased genomic instability​
    Rosin, N. ; Elcioglu, N. H.; Beleggia, F.; Isguven, P.; Altmüller, J.; Thiele, H. & Steindl, K. et al.​ (2015) 
    Human Molecular Genetics, 24(13) pp. 3708​-3717​.​ DOI: https://doi.org/10.1093/hmg/ddv115 
    ​Details  DOI  PMID  PMC  WoS 
  • 2014 | Journal Article | Research Paper
    ​ ​Mutations in CKAP2L, the Human Homo log of the Mouse Radmis Gene, Cause Filippi Syndrome​
    Hussain, M. S.; Battaglia, A.; Szczepanski, S.; Kaygusuz, E.; Toliat, M. R.; Sakakibara, S.-i. & Altmüller, J. et al.​ (2014) 
    American journal of human genetics, 95(5) pp. 622​-632​.​ DOI: https://doi.org/10.1016/j.ajhg.2014.10.008 
    ​Details  DOI  PMID  PMC  WoS 
  • 2013 | Journal Article | Research Paper
    ​ ​CDK6 associates with the centrosome during mitosis and is mutated in a large Pakistani family with primary microcephaly​
    Hussain, M. S.; Baig, S. M.; Neumann, S.; Peche, V. S.; Szczepanski, S.; Nürnberg, G. & Tariq, M. et al.​ (2013) 
    Human Molecular Genetics, 22(25) pp. 5199​-5214​.​ DOI: https://doi.org/10.1093/hmg/ddt374 
    ​Details  DOI  PMID  PMC  WoS 
  • 2013 | Journal Article | Research Paper
    ​ ​Recessive TRAPPC11 Mutations Cause a Disease Spectrum of Limb Girdle Muscular Dystrophy and Myopathy with Movement Disorder and Intellectual Disability​
    Boegershausen, N.; Shahrzad, N.; Chong, J. X.; von Kleist-Retzow, J.-C.; Stanga, D.; Li, Y.   & Bernier, F. P. et al.​ (2013) 
    American journal of human genetics, 93(1) pp. 181​-190​.​ DOI: https://doi.org/10.1016/j.ajhg.2013.05.028 
    ​Details  DOI  PMID  PMC  WoS 
  • 2013 | Journal Article | Research Paper
    ​ ​A comprehensive molecular study on Coffin-Siris and Nicolaides-Baraitser syndromes identifies a broad molecular and clinical spectrum converging on altered chromatin remodeling​
    Wieczorek, D.; Boegershausen, N.; Beleggia, F.; Steiner-Haldenstaett, S.; Pohl, E.; Li, Y.   & Milz, E. et al.​ (2013) 
    Human Molecular Genetics, 22(25) pp. 5121​-5135​.​ DOI: https://doi.org/10.1093/hmg/ddt366 
    ​Details  DOI  PMID  PMC  WoS 
  • 2012 | Journal Article | Research Paper
    ​ ​Attenuated BMP1 Function Compromises Osteogenesis, Leading to Bone Fragility in Humans and Zebrafish​
    Asharani, P. V.; Keupp, K.; Semler, O.; Wang, W.; Li, Y. ; Thiele, H. & Yigit, G.  et al.​ (2012) 
    American journal of human genetics, 90(4) pp. 661​-674​.​ DOI: https://doi.org/10.1016/j.ajhg.2012.02.026 
    ​Details  DOI  PMID  PMC  WoS 

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