Prof. Dr. Bernd Wollnik

Name Card

Main Affiliation
 
Staff Status
unigoe
 

1-72 of 72
 
The bibliographical data in your publication list are complete
You can correct existing data in the blue highlighted fields.To do this, please click on the coloured field. It is not possible to delete data here.
Fields that are not marked in colour (e. g. the authors) can be edited using the input form. To do so, click on the in front of the respective publication.
The bibliographic data in your publication list may be incomplete. You can
  • add any missing data in the fields marked in red or
  • correct existing data in the blue highlighted fields.
To do this, please click on the coloured field. It is not possible to delete data here.
Fields that are not marked in colour (e. g. the authors) can be edited using the input form. To do so, click on the in front of the respective publication.
Check/Uncheck all
  • 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
    ​ ​Evaluation of growth, puberty, osteoporosis, and the response to long‐term bisphosphonate therapy in four patients with osteoporosis‐pseudoglioma syndrome​
    Karakilic‐Ozturan, E.; Altunoglu, U.; Ozturk, A. P.; Kardelen Al, A. D.; Yavas Abali, Z.; Avci, S. & Wollnik, B.  et al.​ (2022) 
    American Journal of Medical Genetics. Part A,.​ DOI: https://doi.org/10.1002/ajmg.a.62742 
    ​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 | 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 
  • 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 
  • 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
    ​ ​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 | 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
    ​ ​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 | 
    ​ ​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
    ​ ​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 
  • 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 
  • 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 | Overview
    ​ ​Hallermann-Streiff syndrome: A missing molecular link for a highly recognizable syndrome​
    Schmidt, J.   & Wollnik, B. ​ (2018) 
    American Journal of Medical Genetics Part C: Seminars in Medical Genetics, 178(4) pp. 398​-406​.​ DOI: https://doi.org/10.1002/ajmg.c.31668 
    ​Details  DOI  PMID  PMC 
  • 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
    ​ ​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 | 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
    ​ ​509 Tumor suppression in basal keratinocytes via dual non-cell-autonomous functions of a Na,K-ATPase beta subunit​
    Hatzold, J.; Beleggia, F.; Herzig, H.; Bloch, W.; Wollnik, B.   & Hammerschmidt, M.​ (2016) 
    Journal of Investigative Dermatology, 136(9) pp. S247​.​ DOI: https://doi.org/10.1016/j.jid.2016.06.531 
    ​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 | Research Paper
    ​ ​Mutation Update for Kabuki Syndrome Genes KMT2D and KDM6A and Further Delineation of X-Linked Kabuki Syndrome Subtype 2​
    Bögershausen, N.; Gatinois, V.; Riehmer, V.; Kayserili, H.; Becker, J.; Thoenes, M. & Simsek-Kiper, P. Ö. et al.​ (2016) 
    Human Mutation, 37(9) pp. 847​-864​.​ DOI: https://doi.org/10.1002/humu.23026 
    ​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
    ​ ​Specific mosaic KRAS mutations affecting codon 146 cause oculoectodermal syndrome and encephalocraniocutaneous lipomatosis​
    Boppudi, S.; Bögershausen, N.; Hove, H. B.; Percin, E. F.; Aslan, D.; Dvorsky, R. & Kayhan, G. et al.​ (2016) 
    Clinical Genetics, 90(4) pp. 334​-342​.​ DOI: https://doi.org/10.1111/cge.12775 
    ​Details  DOI  PMID  PMC  WoS 
  • 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
    ​ ​Ionenkanalerkrankungen der Niere und Nebenniere​
    Beck, B.; Wollnik, B.   & Kömhoff, M.​ (2013) 
    Medizinische Genetik, 25(4) pp. 480​-485​.​ DOI: https://doi.org/10.1007/s11825-013-0423-7 
    ​Details  DOI 
  • 2013 | Journal Article | Letter Note
    ​ ​In relation to the article "Skirting the pitfalls: a clear-cut nomenclature for H3K4 methyltransferases" by Bogerhausen et al. Response​
    Bögershausen, N.; Bruford, E. & Wollnik, B. ​ (2013) 
    Clinical Genetics, 83(3).​ DOI: https://doi.org/10.1111/cge.12099 
    ​Details  DOI  PMID  PMC  WoS 
  • 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 
  • 2013 | Journal Article
    ​ ​Klinik und Genetik syndromaler und nichtsyndromaler Kraniosynostosen​
    Rachwalski, M.; Wollnik, B.   & Kress, W.​ (2013) 
    Medizinische Genetik, 25(3) pp. 373​-387​.​ DOI: https://doi.org/10.1007/s11825-013-0412-x 
    ​Details  DOI 
  • 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 
  • 2013 | Review
    ​ ​Unmasking Kabuki syndrome​
    Bögershausen, N.& Wollnik, B. ​ (2013)
    Clinical Genetics, 83​(3) pp. 201​-211​.​ DOI: https://doi.org/10.1111/cge.12051 
    ​Details  DOI  PMID  PMC  WoS 
  • 2013 | Journal Article | Research Paper
    ​ ​Clinical and mutation data in 12 patients with the clinical diagnosis of Nager syndrome​
    Czeschik, J. C.; Voigt, C.; Alanay, Y.; Albrecht, B.; Avci, S.; FitzPatrick, D. & Goudie, D. R. et al.​ (2013) 
    Human Genetics, 132(8) pp. 885​-898​.​ DOI: https://doi.org/10.1007/s00439-013-1295-2 
    ​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 
  • 2013 | Review
    ​ ​Skirting the pitfalls: a clear-cut nomenclature for H3K4 methyltransferases​
    Bögershausen, N.; Bruford, E.& Wollnik, B. ​ (2013)
    Clinical Genetics, 83​(3) pp. 212​-214​.​ DOI: https://doi.org/10.1111/cge.12050 
    ​Details  DOI  PMID  PMC  WoS 
  • 2012 | Journal Article
    ​ ​Molekulare Mechanismen des Seckel-Syndroms​
    Yigit, G. & Wollnik, B. ​ (2012) 
    Medizinische Genetik, 24(4) pp. 284​-288​.​ DOI: https://doi.org/10.1007/s11825-012-0359-3 
    ​Details  DOI 
  • 2011 | Journal Article | Research Paper
    ​ ​Exome Sequencing Identifies Truncating Mutations in Human SERPINF1 in Autosomal-Recessive Osteogenesis Imperfecta​
    Becker, J.; Semler, O.; Gilissen, C.; Li, Y. ; Bolz, H. J.; Giunta, C. & Bergmann, C. et al.​ (2011) 
    American journal of human genetics, 88(3) pp. 362​-371​.​ DOI: https://doi.org/10.1016/j.ajhg.2011.01.015 
    ​Details  DOI  PMID  PMC  WoS 
  • 2010 | Journal Article
    ​ ​Disruption of ALX1 Causes Extreme Microphthalmia and Severe Facial Clefting: Expanding the Spectrum of Autosomal-Recessive ALX-Related Frontonasal Dysplasia​
    Uz, E.; Alanay, Y.; Aktas, D.; Vargel, I.; Gucer, S.; Tuncbilek, G. & Eggeling, F. von et al.​ (2010) 
    American journal of human genetics, 86(5) pp. 789​-796​.​ DOI: https://doi.org/10.1016/j.ajhg.2010.04.002 
    ​Details  DOI  PMID  PMC  WoS 
  • 2008 | Journal Article | Research Paper
    ​ ​Skewed X inactivation in an X linked nystagmus family resulted from a novel, p.R229G, missense mutation in the FRMD7 gene​
    Kaplan, Y.; Vargel, I.; Kansu, T.; Akin, B.; Rohmann, E.; Kamaci, S. & Uz, E. et al.​ (2008) 
    British Journal of Ophthalmology, 92(1) pp. 135​-141​.​ DOI: https://doi.org/10.1136/bjo.2007.128157 
    ​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 
  • 2006 | Journal Article | Research Paper
    ​ ​Mutations in the lipoma HMGIC fusion partner-like 5 (LHFPL5) gene cause autosomal recessive nonsyndromic hearing loss​
    Kalay, E.; Li, Y.; Uzumcu, A.; Uyguner, O.; Collin, R. W. J.; Caylan, R. & Ulubil-Emiroglu, M. et al.​ (2006) 
    Human Mutation, 27(7) pp. 633​-639​.​ DOI: https://doi.org/10.1002/humu.20368 
    ​Details  DOI  PMID  PMC  WoS 
  • 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 
  • 1997 | Journal Article | Research Paper
    ​ ​Pathophysiological mechanisms of dominant and recessive KVLQT1 K+ channel mutations found in inherited cardiac arrhythmias​
    Wollnik, B. ; Schroeder, B. C.; Kubisch, C.; Esperer, H. D.; Wieacker, P. & Jentsch, T. J.​ (1997) 
    Human Molecular Genetics, 6(11) pp. 1943​-1949​.​ DOI: https://doi.org/10.1093/hmg/6.11.1943 
    ​Details  DOI  PMID  PMC  WoS 
  • 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 
  • 1993 | Journal Article | Research Paper
    ​ ​Immediate-early gene induction by repetitive mechanical but not electrical activity in adult rat cardiomyocytes​
    Kubisch, C.; Wollnik, B. ; Maass, A.; Meyer, R.; Vetter, H. & Neyses, L.​ (1993) 
    FEBS Letters, 335(1) pp. 37​-40​.​ DOI: https://doi.org/10.1016/0014-5793(93)80434-V 
    ​Details  DOI  PMID  PMC  WoS 

Publication List

All Articles (Book & Journal) Conference objects Book chapters & Review Articles & Preprints Papers (Journal & Conference)

Filter

Active filter:
???jsp.search.filter.language???:  English

Type

Subtype

Date issued

Author

Subject

Project

Peer-Reviewed

Organization

Fulltext

Options

Citation Style

GRO View APA Chicago MLA Vancouver
https://publications.goettingen-research-online.de URI: /cris/rp/rp00005
ID: 0000000
PREF: default TOKEN:

0

Sort

Issue Date
ASC DESC
Title
ASC DESC

Embed

JavaScript
Link

Export

Activate Export Mode
Deactivate Export Mode

Select some or all items (max. 800 for CSV/Excel) from the publications list, then choose an export format below.