Prof. Dr. Bernd Wollnik

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unigoe
 

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  • 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
    ​ ​Genetic determinants of heart failure: facts and numbers​
    Czepluch, F. S. ; Wollnik, B.   & Hasenfuß, G. ​ (2018) 
    ESC Heart Failure, 5(3) pp. 211​-217​.​ DOI: https://doi.org/10.1002/ehf2.12267 
    ​Details  DOI 
  • 2017 | Journal Article
    ​ ​Mutations in chromatin regulators functionally link Cornelia de Lange syndrome and clinically overlapping phenotypes​
    Parenti, I.; Teresa-Rodrigo, M. E.; Pozojevic, J.; Ruiz Gil, S.; Bader, I.; Braunholz, D. & Bramswig, N. C. et al.​ (2017) 
    Human Genetics, 136(3) pp. 307​-320​.​ DOI: https://doi.org/10.1007/s00439-017-1758-y 
    ​Details  DOI 
  • 2017 | Journal Article
    ​ ​Genetische Diagnostik bei Kardiomyopathien​
    Czepluch, F. ; Wollnik, B.   & Hasenfuß, G. ​ (2017) 
    DMW - Deutsche Medizinische Wochenschrift, 142(09) pp. 657​-664​.​ DOI: https://doi.org/10.1055/s-0042-112183 
    ​Details  DOI 
  • 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
    ​ ​New gain-of-function mutation shows CACNA1D as recurrently mutated gene in autism spectrum disorders and epilepsy​
    Pinggera, A.; Mackenroth, L.; Rump, A.; Schallner, J.; Beleggia, F.; Wollnik, B.   & Striessnig, J.​ (2017) 
    Human Molecular Genetics, 26(15) pp. 2923​-2932​.​ DOI: https://doi.org/10.1093/hmg/ddx175 
    ​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
    ​ ​Wiedemann-Rautenstrauch syndrome: A phenotype analysis​
    Paolacci, S.; Bertola, D.; Franco, J.; Mohammed, S.; Tartaglia, M.; Wollnik, B.   & Hennekam, R. C.​ (2017) 
    American Journal of Medical Genetics Part A, 173(7) pp. 1763​-1772​.​ DOI: https://doi.org/10.1002/ajmg.a.38246 
    ​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 | 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 
  • 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 
  • 2015 | Journal Article
    ​ ​Mutations in CDK5RAP2 cause Seckel syndrome​
    Yigit, G. ; Brown, K. E.; Kayserili, H.; Pohl, E.; Caliebe, A.; Zahnleiter, D. & Rosser, E. et al.​ (2015) 
    Molecular Genetics & Genomic Medicine, 3(5) pp. 467​-480​.​ DOI: https://doi.org/10.1002/mgg3.158 
    ​Details  DOI 
  • 2013 | Journal Article
    ​ ​Mutations in the interleukin receptor IL11RA cause autosomal recessive Crouzon-like craniosynostosis​
    Keupp, K.; Li, Y. ; Vargel, I.; Hoischen, A.; Richardson, R.; Neveling, K. & Alanay, Y. et al.​ (2013) 
    Molecular Genetics & Genomic Medicine, 1(4) pp. 223​-237​.​ DOI: https://doi.org/10.1002/mgg3.28 
    ​Details  DOI 
  • 2010 | Journal Article
    ​ ​A Novel Familial BBS12 Mutation Associated with a Mild Phenotype: Implications for Clinical and Molecular Diagnostic Strategies​
    Pawlik, B.; Mir, A.; Iqbal, H.; Li, Y.; Nürnberg, G.; Becker, C. & Qamar, R. et al.​ (2010) 
    Molecular Syndromology, 1(1) pp. 27​-34​.​ DOI: https://doi.org/10.1159/000276763 
    ​Details  DOI 
  • 2009 | Journal Article
    ​ ​CYP21A2 Gene Mutations in Congenital Adrenal Hyperplasia: Genotype-phenotype correlation in Turkish children​
    Baş, F.; Kayserili, H.; Darendeliler, F.; Uyguner, O.; Günöz, H.; Yüksel Apak, M. & Atalar, F. et al.​ (2009) 
    Journal of Clinical Research in Pediatric Endocrinology, 1(3) pp. 116​-128​.​ DOI: https://doi.org/10.4008/jcrpe.v1i3.49 
    ​Details  DOI 
  • 2003 | Journal Article
    ​ ​Progressive autosomal dominant optic atrophy and sensorineural hearing loss in a Turkish family​
    Özden, S.; Düzcan, F.; Wollnik, B. ; Çetin, G. O.; Sahiner, T.; Bayramoglu, I. & Yüksel Apak, M. et al.​ (2003) 
    Ophthalmic Genetics, 23(1) pp. 29​-36​.​ DOI: https://doi.org/10.1076/opge.23.1.29.2208 
    ​Details  DOI 
  • 1998 | Journal Article
    ​ ​Activation and Inactivation of Homomeric KvLQT1 Potassium Channels​
    Pusch, M. ; Magrassi, R.; Wollnik, B.   & Conti, F.​ (1998) 
    Biophysical Journal, 75(2) pp. 785​-792​.​ DOI: https://doi.org/10.1016/s0006-3495(98)77568-x 
    ​Details  DOI 
  • 1995 | Journal Article
    ​ ​Hormonal induction of an immediate-early gene response in myogenic cell lines--a paradigm for heart growth​
    Maass, A.; Grohe, C.; Kubisch, C.; Wollnik, B. ; Vetter, H. & Neyses, L.​ (1995) 
    European Heart Journal, 16(suppl C) pp. 12​-14​.​ DOI: https://doi.org/10.1093/eurheartj/16.suppl_C.12 
    ​Details  DOI 

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