Prof. Dr. Bernd Wollnik

Name Card

Main Affiliation
 
Staff Status
unigoe
 

1-187 of 187
 
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
  • 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 | 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 | 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 | 
    ​ ​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 
  • 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 
  • 2021 | Preprint
    ​ ​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.​ (2021). DOI: https://doi.org/10.1101/2021.10.01.462717 
    ​Details  DOI 
  • 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 | Preprint
    ​ ​A novel single-cell RNA-sequencing platform 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.​ (2021). DOI: https://doi.org/10.21203/rs.3.rs-957427/v1 
    ​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
    ​ ​Neugeborenes mit Nasenagenesie: Neonatologische Herausforderungen bei der Versorgung eines Neugeborenen mit Bosma-Arhinie-Mikrophthalmie-Syndrom (BAMS)​
    Stromiedel, H.; Van Quekelberghe, C.; Yigit, G. ; Naimi, A. A.; Bahlmann, F.; Sader, R. & Guchlerner, M. et al.​ (2020) 
    Zeitschrift für Geburtshilfe und Neonatologie, 224(06) pp. 377​-380​.​ DOI: https://doi.org/10.1055/a-1224-4465 
    ​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
    ​ ​Hereditary angioedema in a single family with specific mutations in both plasminogen and SERPING1 genes​
    Bork, K.; Zibat, A.; Ferrari, D. M.; Wollnik, B. ; Schön, M. P. ; Wulff, K. & Lippert, U. ​ (2020) 
    Journal der Deutschen Dermatologischen Gesellschaft, 18(3) pp. 215​-223​.​ DOI: https://doi.org/10.1111/ddg.14036 
    ​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 | 
    ​ ​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 | 
    ​ ​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 
  • 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 
  • 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
    ​ ​Floating-Harbor syndrome: Presentation of the first Romanian patient with a SRCAP mutation and review of the literature​
    Budisteanu, M.; Bögershausen, N.; Papuc, S.; Moosa, S. ; Thoenes, M.; Riga, D. & Arghir, A. et al.​ (2018) 
    Balkan Journal of Medical Genetics, 21(1) pp. 83​-86​.​ DOI: https://doi.org/10.2478/bjmg-2018-0005 
    ​Details  DOI 
  • 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
    ​ ​Moderne humangenetische Beratung: ​Praktische Aspekte am Beispiel der hypertrophen Kardiomyopathie​
    Czepluch, F. ; Hasenfuß, G.   & Wollnik, B. ​ (2018) 
    Der Internist, 59(8) pp. 790​-798​.​ DOI: https://doi.org/10.1007/s00108-018-0452-z 
    ​Details  DOI 
  • 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 
  • 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 
  • 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
    ​ ​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 
  • 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 
  • 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 | Letter Note
    ​ ​Mutations in SEC24D cause autosomal recessive osteogenesis imperfecta​
    Moosa, S.; Chung, B. H. Chung, B. H.-Y.; Tung, J. Y. Tung, J. Y.-L.; Altmueller, J.; Thiele, H.; Nuernberg, P. & Netzer, C. et al.​ (2016) 
    Clinical Genetics, 89(4) pp. 517​-519​.​ DOI: https://doi.org/10.1111/cge.12678 
    ​Details  DOI  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
    ​ ​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
    ​ ​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 | Review
    ​ ​Altered FGF signalling in congenital craniofacial and skeletal disorders​
    Moosa, S.  & Wollnik, B. ​ (2016)
    Seminars in Cell & Developmental Biology, 53​ pp. 115​-125​.​
    Academic Press Ltd- Elsevier Science Ltd. DOI: https://doi.org/10.1016/j.semcdb.2015.12.005 
    ​Details  DOI  PMID  PMC  WoS 
  • 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 
  • 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 
  • 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 
  • 2015 | Journal Article
    ​ ​Molecular basis of autosomal recessive primary microcephaly​
    Yigit, G.; Rosin, N. & Wollnik, B. ​ (2015) 
    Medizinische Genetik, 27(4) pp. 345​-350​.​ DOI: https://doi.org/10.1007/s11825-015-0068-9 
    ​Details  DOI  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 
  • 2015 | Journal Article | Research Paper
    ​ ​RAP1-mediated MEK/ERK pathway defects in Kabuki syndrome​
    Boegershausen, N.; Tsai, I.-C.; Pohl, E.; Kiper, P. O. S.; Beleggia, F.; Percin, E. F. & Keupp, K. et al.​ (2015) 
    Journal of Clinical Investigation, 125(9) pp. 3585​-3599​.​ DOI: https://doi.org/10.1172/JCI80102 
    ​Details  DOI  PMID  PMC  WoS 
  • 2015 | Journal Article | Research Paper
    ​ ​CRIM1 haploinsufficiency causes defects in eye development in human and mouse​
    Beleggia, F.; Li, Y. ; Fan, J.; Elcioglu, N. H.; Toker, E.; Wieland, T. & Maumenee, I. H. et al.​ (2015) 
    Human Molecular Genetics, 24(8) pp. 2267​-2273​.​ DOI: https://doi.org/10.1093/hmg/ddu744 
    ​Details  DOI  PMID  PMC  WoS 
  • 2015 | Journal Article | Letter Note
    ​ ​A Novel Mutation in RNU4ATAC in a Patient with Microcephalic Osteodysplastic Primordial Dwarfism Type I​
    Kilic, E.; Yigit, G. ; Utine, G. E.; Wollnik, B. ; Mihci, E.; Nur, B. G. & Boduroglu, K.​ (2015) 
    American Journal of Medical Genetics, 167(4) pp. 919​-921​.​ DOI: https://doi.org/10.1002/ajmg.a.36955 
    ​Details  DOI  PMID  PMC  WoS 
  • 2015 | Journal Article | Research Paper
    ​ ​Mutations in SEC24D, Encoding a Component of the COPII Machinery, Cause a Syndromic Form of Osteogenesis Imperfecta​
    Garbes, L.; Kim, K.; Riess, A.; Hoyer-Kuhn, H.; Beleggia, F.; Bevot, A. & Kim, M. J. et al.​ (2015) 
    American journal of human genetics, 96(3) pp. 432​-439​.​ DOI: https://doi.org/10.1016/j.ajhg.2015.01.002 
    ​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 
  • 2015 | Journal Article | Research Paper
    ​ ​Exome sequencing unravels unexpected differential diagnoses in individuals with the tentative diagnosis of Coffin-Siris and Nicolaides-Baraitser syndromes​
    Bramswig, N. C.; Luedecke, H.-J.; Alanay, Y.; Albrecht, B.; Barthelmie, A.; Boduroglu, K. & Braunholz, D. et al.​ (2015) 
    Human Genetics, 134(6) pp. 553​-568​.​ DOI: https://doi.org/10.1007/s00439-015-1535-8 
    ​Details  DOI  PMID  PMC  WoS 
  • 2014 | Journal Article | Research Paper
    ​ ​CHARGE and Kabuki syndromes: a phenotypic and molecular link​
    Schulz, Y.; Freese, L.; Maenz, J.; Zoll, B. ; Voelter, C.; Brockmann, K.   & Boegershausen, N. et al.​ (2014) 
    Human Molecular Genetics, 23(16) pp. 4396​-4405​.​ DOI: https://doi.org/10.1093/hmg/ddu156 
    ​Details  DOI  PMID  PMC  WoS 
  • 2014 | Journal Article | Research Paper
    ​ ​Extreme Growth Failure is a Common Presentation of Ligase IV Deficiency​
    Murray, J. E.; Bicknell, L. S.; Yigit, G. ; Duker, A. L.; van Kogelenberg, M.; Haghayegh, S. & Wieczorek, D. et al.​ (2014) 
    Human Mutation, 35(1) pp. 76​-85​.​ DOI: https://doi.org/10.1002/humu.22461 
    ​Details  DOI  PMID  PMC  WoS 
  • 2014 | Journal Article | Research Paper
    ​ ​A Nonclassical IFITM5 Mutation Located in the Coding Region Causes Severe Osteogenesis Imperfecta With Prenatal Onset​
    Hoyer-Kuhn, H.; Semler, O.; Garbes, L.; Zimmermann, K.; Becker, J.; Wollnik, B.   & Schoenau, E. et al.​ (2014) 
    Journal of Bone and Mineral Research, 29(6) pp. 1387​-1391​.​ DOI: https://doi.org/10.1002/jbmr.2156 
    ​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
    ​ ​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 | 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
    ​ ​A new face of Borjeson-Forssman-Lehmann syndrome? De novo mutations in PHF6 in seven females with a distinct phenotype​
    Zweier, C.; Kraus, C. ; Brueton, L.; Cole, T.; Degenhardt, F.; Engels, H. & Gillessen-Kaesbach, G. et al.​ (2013) 
    Journal of Medical Genetics, 50(12) pp. 838​-847​.​ DOI: https://doi.org/10.1136/jmedgenet-2013-101918 
    ​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 
  • 2013 | Journal Article | Research Paper
    ​ ​Genotype phenotype spectrum of PYCR1-related autosomal recessive cutis laxa​
    Dimopoulou, A.; Fischer, B.; Gardeitchik, T.; Schroeter, P.; Kayserili, H.; Schlack, C. & Li, Y.  et al.​ (2013) 
    Molecular Genetics and Metabolism, 110(3) pp. 352​-361​.​ DOI: https://doi.org/10.1016/j.ymgme.2013.08.009 
    ​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 | Journal Article | Research Paper
    ​ ​Mutations in WNT1 Cause Different Forms of Bone Fragility​
    Keupp, K.; Beleggia, F.; Kayserili, H.; Barnes, A. M.; Steiner, M.; Semler, O. & Fischer, B. et al.​ (2013) 
    American journal of human genetics, 92(4) pp. 565​-574​.​ DOI: https://doi.org/10.1016/j.ajhg.2013.02.010 
    ​Details  DOI  PMID  PMC  WoS 
  • 2013 | Journal Article | Research Paper
    ​ ​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. 1311​-1320​.​ DOI: https://doi.org/10.1007/s00439-013-1337-9 
    ​Details  DOI  PMID  PMC  WoS 
  • 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
    ​ ​Activating Somatic FGFR2 Mutations in Breast Cancer​
    Reintjes, N.; Li, Y. ; Becker, A.; Rohmann, E.; Schmutzler, R. & Wollnik, B. ​ (2013) 
    PLoS ONE, 8(3) art. e60264​.​ DOI: https://doi.org/10.1371/journal.pone.0060264 
    ​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
    ​ ​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
    ​ ​Increasing the Yield in Targeted Next-Generation Sequencing by Implicating CNV Analysis, Non-Coding Exons and the Overall Variant Load: The Example of Retinal Dystrophies​
    Eisenberger, T.; Neuhaus, C.; Khan, A. O.; Decker, C.; Preising, M. N.; Friedburg, C. & Bieg, A. et al.​ (2013) 
    PLoS ONE, 8(11) art. e78496​.​ DOI: https://doi.org/10.1371/journal.pone.0078496 
    ​Details  DOI  PMID  PMC  WoS 
  • 2013 | Journal Article | Research Paper
    ​ ​Severe Cenani-Lenz Syndrome Caused by Loss of LRP4 Function​
    Kariminejad, A.; Stollfuss, B.; Li, Y. ; Boegershausen, N.; Boss, K.; Hennekam, R. C. M. & Wollnik, B. ​ (2013) 
    American Journal of Medical Genetics, 161A(6) pp. 1475​-1479​.​ DOI: https://doi.org/10.1002/ajmg.a.35920 
    ​Details  DOI  PMID  PMC  WoS 
  • 2012 | Journal Article | Research Paper
    ​ ​A NEW CLINICAL PRESENTATION ASSOCIATED WITH PONTINE CLEFTING, HYPERPIGMENTATION AND SHORT STATURE IN ADDITION TO CRANIOFACIAL, CARDIAC AND DEVELOPMENTAL ANOMALIES​
    Cogulu, O.; Durmaz, B.; Wollnik, B. ; Durmaz, A.; Darcan, S. & Ozkinay, F.​ (2012) 
    Genetic Counseling, 23(2) pp. 281​-287​.​
    ​Details  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 
  • 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 Mutation in PNPT1, Encoding Mitochondrial-RNA-Import Protein PNPase, Causes Hereditary Hearing Loss​
    von Ameln, S.; Wang, G.; Boulouiz, R.; Rutherford, M. A.; Smith, G. M.; Li, Y.   & Pogoda, H.-M. et al.​ (2012) 
    American journal of human genetics, 91(5) pp. 919​-927​.​ DOI: https://doi.org/10.1016/j.ajhg.2012.09.002 
    ​Details  DOI  PMID  PMC  WoS 
  • 2012 | Journal Article | Research Paper
    ​ ​A Mutation in the 5 '-UTR of IFITM5 Creates an In-Frame Start Codon and Causes Autosomal-Dominant Osteogenesis Imperfecta Type V with Hyperplastic Callus​
    Semler, O.; Garbes, L.; Keupp, K.; Swan, D.; Zimmermann, K.; Becker, J. & Iden, S. et al.​ (2012) 
    American journal of human genetics, 91(2) pp. 349​-357​.​ DOI: https://doi.org/10.1016/j.ajhg.2012.06.011 
    ​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 
  • 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 
  • 2011 | Journal Article | Research Paper
    ​ ​Sustained NF-kappaB activity in chronic lymphocytic leukemia is independent of genetic and epigenetic alterations in the TNFAIP3 (A20) locus​
    Frenzel, L. P.; Claus, R.; Plume, N.; Schwamb, J.; Konermann, C.; Pallasch, C. P. & Claasen, J. et al.​ (2011) 
    International Journal of Cancer, 128(10) pp. 2495​-2500​.​ DOI: https://doi.org/10.1002/ijc.25579 
    ​Details  DOI  PMID  PMC  WoS 
  • 2011 | Journal Article | Research Paper
    ​ ​Craniosynostosis and Multiple Skeletal Anomalies in Humans and Zebrafish Result from a Defect in the Localized Degradation of Retinoic Acid​
    Laue, K.; Pogoda, H.-M.; Daniel, P. B.; van Haeringen, A.; Alanay, Y.; von Ameln, S. & Rachwalski, M. et al.​ (2011) 
    American journal of human genetics, 89(5) pp. 595​-606​.​ DOI: https://doi.org/10.1016/j.ajhg.2011.09.015 
    ​Details  DOI  PMID  PMC  WoS 
  • 2011 | Journal Article | Research Paper
    ​ ​A homozygous RAB3GAP2 mutation causes Warburg Micro syndrome​
    Borck, G.; Wunram, H.; Steiert, A.; Volk, A. E.; Koerber, F.; Roters, S. & Herkenrath, P. et al.​ (2011) 
    Human Genetics, 129(1) pp. 45​-50​.​ DOI: https://doi.org/10.1007/s00439-010-0896-2 
    ​Details  DOI  PMID  PMC  WoS 
  • 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 
  • 2011 | Journal Article | Research Paper
    ​ ​CEP152 is a genome maintenance protein disrupted in Seckel syndrome​
    Kalay, E.; Yigit, G. ; Aslan, Y.; Brown, K. E.; Pohl, E.; Bicknell, L. S. & Kayserili, H. et al.​ (2011) 
    Nature Genetics, 43(1) pp. 23​-26​.​ DOI: https://doi.org/10.1038/ng.725 
    ​Details  DOI  PMID  PMC  WoS 
  • 2011 | Journal Article | Research Paper
    ​ ​A Novel Homozygous COL11A2 Deletion Causes a C-Terminal Protein Truncation With Incomplete mRNA Decay in a Turkish Patient​
    Kayserili, H.; Wollnik, B. ; Guven, G.; Emiroglu, M. U.; Baserer, N. & Uyguner, O.​ (2011) 
    American Journal of Medical Genetics, 155A(1) pp. 180​-185​.​ DOI: https://doi.org/10.1002/ajmg.a.33780 
    ​Details  DOI  PMID  PMC  WoS 
  • 2011 | Journal Article | Research Paper
    ​ ​Loss-of-Function Mutations of ILDR1 Cause Autosomal-Recessive Hearing Impairment DFNB42​
    Borck, G.; Rehman, A. U.; Lee, K.; Pogoda, H.-M.; Kakar, N.; von Ameln, S. & Grillet, N. et al.​ (2011) 
    American journal of human genetics, 88(2) pp. 127​-137​.​ DOI: https://doi.org/10.1016/j.ajhg.2010.12.011 
    ​Details  DOI  PMID  PMC  WoS 
  • 2011 | Journal Article | Research Paper
    ​ ​A mutation screen in patients with Kabuki syndrome​
    Li, Y. ; Boegershausen, N.; Alanay, Y.; Kiper, P. O. S.; Plume, N.; Keupp, K. & Pohl, E. et al.​ (2011) 
    Human Genetics, 130(6) pp. 715​-724​.​ DOI: https://doi.org/10.1007/s00439-011-1004-y 
    ​Details  DOI  PMID  PMC  WoS 
  • 2010 | Journal Article
    ​ ​Mutations in Pycr1 cause progeroid changes in skin and bone due to reduced mitochondrial stress resistance​
    Reversade, B.; Escande-Beillard, N.; Dimopoulou, A.; Fischer, B.; Li, Y.; Kayserili, H. & Al-Gazali, L. et al.​ (2010) 
    Bone, 47 pp. 154​-155​.​ DOI: https://doi.org/10.1016/j.bone.2010.04.356 
    ​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 
  • 2010 | Journal Article | Research Paper
    ​ ​Lrp4 Regulates Initiation of Ureteric Budding and Is Crucial for Kidney Formation - A Mouse Model for Cenani-Lenz Syndrome​
    Karner, C. M.; Dietrich, M.; Johnson, E. B.; Kappesser, N.; Tennert, C.; Percin, E. F. & Wollnik, B.  et al.​ (2010) 
    PLoS ONE, 5(4) art. e10418​.​ DOI: https://doi.org/10.1371/journal.pone.0010418 
    ​Details  DOI  PMID  PMC  WoS 
  • 2010 | Journal Article | Letter Note
    ​ ​First independent replication study confirms the strong genetic association of ANXA11 with sarcoidosis​
    Li, Y. ; Pabst, S.; Kubisch, C.; Grohe, C. & Wollnik, B. ​ (2010) 
    Thorax, 65(10) pp. 939​-940​.​ DOI: https://doi.org/10.1136/thx.2010.138743 
    ​Details  DOI  PMID  PMC  WoS 
  • 2010 | Journal Article | Research Paper
    ​ ​Temtamy Preaxial Brachydactyly Syndrome Is Caused by Loss-of-Function Mutations in Chondroitin Synthase 1, a Potential Target of BMP Signaling​
    Li, Y. ; Laue, K.; Temtamy, S.; Aglan, M.; Kotan, L. D.; Yigit, G.   & Canan, H. et al.​ (2010) 
    American journal of human genetics, 87(6) pp. 757​-767​.​ DOI: https://doi.org/10.1016/j.ajhg.2010.10.003 
    ​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 
  • 2010 | Journal Article | Research Paper
    ​ ​A Specific Mutation in the Distant Sonic Hedgehog (SHH) Cis-Regulator (ZRS) Causes Werner Mesomelic Syndrome (WMS) While Complete ZRS Duplications Underlie Haas Type Polysyndactyly and Preaxial Polydactyly (PPD) With or Without Triphalangeal Thumb​
    Wieczorek, D.; Pawlik, B.; Li, Y. ; Akarsu, N. A.; Caliebe, A.; May, K. J. W. & Schweiger, B. et al.​ (2010) 
    Human Mutation, 31(1) pp. 81​-89​.​ DOI: https://doi.org/10.1002/humu.21142 
    ​Details  DOI  PMID  PMC  WoS 
  • 2010 | Journal Article | Letter Note
    ​ ​A common mechanism for microcephaly​
    Wollnik, B. ​ (2010) 
    Nature Genetics, 42(11) pp. 923​-924​.​ DOI: https://doi.org/10.1038/ng1110-923 
    ​Details  DOI  PMID  PMC  WoS 
  • 2010 | Journal Article | Research Paper
    ​ ​LRP4 Mutations Alter Wnt/beta-Catenin Signaling and Cause Limb and Kidney Malformations in Cenani-Lenz Syndrome​
    Li, Y. ; Pawlik, B.; Elcioglu, N. H.; Aglan, M.; Kayserili, H.; Yigit, G.   & Percin, E. F. et al.​ (2010) 
    American journal of human genetics, 86(5) pp. 696​-706​.​ DOI: https://doi.org/10.1016/j.ajhg.2010.03.004 
    ​Details  DOI  PMID  PMC  WoS 
  • 2009 | Journal Article | Research Paper
    ​ ​A NOVEL LOSS-OF-FUNCTION MUTATION IN THE GNS GENE CAUSES SANFILIPPO SYNDROME TYPE D​
    Elcioglu, N. H.; Pawlik, B.; Colak, B.; Beck, M. & Wollnik, B. ​ (2009) 
    Genetic Counseling, 20(2) pp. 133​-139​.​
    ​Details  PMID  PMC  WoS 
  • 2009 | Conference Abstract
    ​ ​Recapitulation of a Right Ventricular Phenotype in a Transgenic Mouse Model Overexpressing the Plakophilin-2 R413x Mutation That Causes Severe ARVC in a Large Family​
    Unsoeld, B. W.; Gunkel, S.; Vouffo, J.; Pfeiffer, C.; Kranz, A.; Lossnitzer, D. & Wollnik, B.  et al.​ (2009)
    Circulation, 120(18) ​82nd Scientific Session of the American-Heart-Association​, Orlando, FL.
    Philadelphia​: Lippincott Williams & Wilkins.
    ​Details  WoS 
  • 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 
  • 2009 | Journal Article | Research Paper
    ​ ​A Mutation in the Signal Sequence of LRP5 in a Family With an Osteoporosis-Pseudoglioma Syndrome (OPPG)-Like Phenotype Indicates a Novel Disease Mechanism for Trinucleotide Repeats​
    Chung, B.-D.; Kayserili, H.; Ai, M.; Freudenberg, J.; Uezmcue, A.; Uyguner, O. & Bartels, C. F. et al.​ (2009) 
    Human Mutation, 30(4) pp. 641​-648​.​ DOI: https://doi.org/10.1002/humu.20916 
    ​Details  DOI  PMID  PMC  WoS 
  • 2009 | Journal Article | Research Paper
    ​ ​Extended genetic analysis of BTNL2 in sarcoidosis​
    Li, Y.; Pabst, S.; Lokhande, S.; Grohe, C. & Wollnik, B. ​ (2009) 
    Tissue Antigens, 73(1) pp. 59​-61​.​ DOI: https://doi.org/10.1111/j.1399-0039.2008.01180.x 
    ​Details  DOI  PMID  PMC  WoS 
  • 2009 | Journal Article
    ​ ​ALX4 dysfunction disrupts craniofacial and epidermal development​
    Kayserili, H.; Uz, E.; Niessen, C.; Vargel, I.; Alanay, Y.; Tuncbilek, G. & Yigit, G.  et al.​ (2009) 
    Human Molecular Genetics, 18(22) pp. 4357​-4366​.​ DOI: https://doi.org/10.1093/hmg/ddp391 
    ​Details  DOI  PMID  PMC  WoS 
  • 2009 | Journal Article | Research Paper
    ​ ​Widening the Mutation Spectrum of EVC and EVC2: Ectopic Expression of Weyer Variants in NIH 3T3 Fibroblasts Disrupts Hedgehog Signaling​
    Valencia, M.; Lapunzina, P.; Lim, D.; Zannolli, R.; Bartholdi, D.; Wollnik, B.   & Al-Ajlouni, O. et al.​ (2009) 
    Human Mutation, 30(12) pp. 1667​-1675​.​ DOI: https://doi.org/10.1002/humu.21117 
    ​Details  DOI  PMID  PMC  WoS 
  • 2009 | Journal Article | Research Paper
    ​ ​Mutations in PYCR1 cause cutis laxa with progeroid features​
    Reversade, B.; Escande-Beillard, N.; Dimopoulou, A.; Fischer, B.; Chng, S. C.; Li, Y.   & Shboul, M. et al.​ (2009) 
    Nature Genetics, 41(9) pp. 1016​-U88​.​ DOI: https://doi.org/10.1038/ng.413 
    ​Details  DOI  PMID  PMC  WoS 
  • 2009 | Journal Article | Research Paper
    ​ ​A large duplication in LIPH underlies autosomal recessive hypotrichosis simplex in four Middle Eastern families​
    Nahum, S.; Pasternack, S. M.; Pforr, J.; Indelman, M.; Wollnik, B. ; Bergman, R. & Noethen, M. M. et al.​ (2009) 
    Archives of Dermatological Research, 301(5) pp. 391​-393​.​ DOI: https://doi.org/10.1007/s00403-008-0903-9 
    ​Details  DOI  PMID  PMC  WoS 
  • 2009 | Journal Article | Research Paper
    ​ ​Pontocerebellar hypoplasia type III (CLAM): Extended phenotype and novel molecular findings​
    Durmaz, B.; Wollnik, B. ; Cogulu, O.; Li, Y. ; Tekgul, H.; Hazan, F. & Ozkinay, F.​ (2009) 
    Journal of Neurology, 256(3) pp. 416​-419​.​ DOI: https://doi.org/10.1007/s00415-009-0094-0 
    ​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 
  • 2008 | Journal Article
    ​ ​Age and origin of major Smith-Lemli-Opitz syndrome (SLOS) mutations in European populations​
    Witsch-Baumgartner, M.; Schwentner, I.; Gruber, M.; Benlian, P.; Bertranpetit, J.; Bieth, E. & Chevy, F. et al.​ (2008) 
    Journal of Medical Genetics, 45(4) pp. 200​-209​.​ DOI: https://doi.org/10.1136/jmg.2007.053520 
    ​Details  DOI  PMID  PMC  WoS 
  • 2008 | Journal Article | Research Paper
    ​ ​A novel stop mutation truncating critical regions of the cardiac transcription factor NKX2-5 in a large family with autosomaldominant inherited congenital heart disease​
    Pabst, S.; Wollnik, B. ; Rohmann, E.; Hintz, Y.; Glaenzer, K.; Vetter, H. & Nickenig, G. et al.​ (2008) 
    Clinical Research in Cardiology, 97(1) pp. 39​-42​.​ DOI: https://doi.org/10.1007/s00392-007-0574-0 
    ​Details  DOI  PMID  PMC  WoS 
  • 2008 | Journal Article | Research Paper
    ​ ​Mutation analysis of TMC1 identifies four new mutations and suggests an additional deafness gene at loci DFNA36 and DFNB7/11​
    Hilgert, N.; Alasti, F.; Dieltjens, N.; Pawlik, B.; Wollnik, B. ; Uyguner, O. & Delmaghani, S. et al.​ (2008) 
    Clinical Genetics, 74(3) pp. 223​-232​.​ DOI: https://doi.org/10.1111/j.1399-0004.2008.01053.x 
    ​Details  DOI  PMID  PMC  WoS 
  • 2008 | Journal Article | Letter Note
    ​ ​A Novel Mutation in the Espin Gene Causes Autosomal Recessive Nonsyndromic Hearing Loss But No Apparent Vestibular Dysfunction in a Moroccan Family​
    Boulouiz, R.; Li, Y. ; Soualhine, H.; Abidi, O.; Chafik, A.; Nürnberg, G. & Becker, C. et al.​ (2008) 
    American Journal of Medical Genetics, 146A(23) pp. 3086​-3089​.​ DOI: https://doi.org/10.1002/ajmg.a.32525 
    ​Details  DOI  PMID  PMC  WoS 
  • 2008 | Journal Article | Research Paper
    ​ ​Mutations of ESRRB encoding estrogen-related receptor beta cause autosomal-recessive nonsyndromic hearing impairment DFNB35​
    Collin, R. W. J.; Kalay, E.; Tariq, M.; Peters, T.; van der Zwaag, B.; Venselaar, H. & Oostrik, J. et al.​ (2008) 
    American journal of human genetics, 82(1) pp. 125​-138​.​ DOI: https://doi.org/10.1016/j.ajhg.2007.09.008 
    ​Details  DOI  PMID  PMC  WoS 
  • 2008 | Journal Article | Research Paper
    ​ ​tRNA splicing endonuclease mutations cause pontocerebellar hypoplasia​
    Budde, B.; Namavar, Y.; Barth, P. G.; Poll-The, B. T.; Nürnberg, G.; Becker, C. & van Ruissen, F. et al.​ (2008) 
    Nature Genetics, 40(9) pp. 1113​-1118​.​ DOI: https://doi.org/10.1038/ng.204 
    ​Details  DOI  PMID  PMC  WoS 
  • 2007 | Conference Abstract
    ​ ​The nonsense-mutation R413X in the plakophilin-2 gene causes a severe inherited form of arrhythmogenic right ventricular cardiomyopathy (ARVC) in a large family​
    Unsoeld, B. W.; Pfeiffer, C.; Gunkel, S.; Noack, C.; Schmidt, A.; Lossnitzer, D. & Wollnik, B.  et al.​ (2007)
    European Heart Journal, 28 pp. 32​-33. 
    Oxford​: Oxford Univ Press.
    ​Details  WoS 
  • 2007 | Journal Article | Research Paper
    ​ ​Analysis of MYO7A in a Moroccan family with Usher syndrome type 1B: novel loss-of-function mutation and non-pathogenicity of p.Y1719C​
    Boulouiz, R.; Li, Y. ; Abidi, O.; Bolz, H. J.; Chafik, A.; Kubisch, C. & Rouba, H. et al.​ (2007) 
    Molecular vision, 13(204-08) pp. 1862​-1865​.​
    ​Details  PMID  PMC  WoS 
  • 2007 | Journal Article | Research Paper
    ​ ​MY015A (DFNB3) mutations in Turkish hearing loss families and functional modeling of a novel motor domain mutation​
    Kalay, E.; Uzumcu, A.; Krieger, E.; Caylan, R.; Uyguner, O.; Ulubil-Emiroglu, M. & Erdol, H. et al.​ (2007) 
    American Journal of Medical Genetics, 143A(20) pp. 2382​-2389​.​ DOI: https://doi.org/10.1002/ajmg.a.31937 
    ​Details  DOI  PMID  PMC  WoS 
  • 2007 | Journal Article | Research Paper
    ​ ​Structural basis for reduced FGFR2 activity in LADD syndrome: Implications for FGFR autoinhibition and activation​
    Lew, E. D.; Bae, J. H.; Rohmann, E.; Wollnik, B.   & Schlessinger, J.​ (2007) 
    Proceedings of the National Academy of Sciences, 104(50) pp. 19802​-19807​.​ DOI: https://doi.org/10.1073/pnas.0709905104 
    ​Details  DOI  PMID  PMC  WoS 
  • 2007 | Journal Article | Research Paper
    ​ ​Loss-of-function mutations in the cardiac calcium channel underlie a new clinical entity characterized by ST-Segment elevation, short QT intervals, and sudden cardiac death​
    Antzelevitch, C.; Pollevick, G. D.; Cordeiro, J. M.; Casis, O.; Sanguinetti, M. C.; Aizawa, Y. & Guerchicoff, A. et al.​ (2007) 
    Circulation, 115(4) pp. 442​-449​.​ DOI: https://doi.org/10.1161/CIRCULATIONAHA.106.668392 
    ​Details  DOI  PMID  PMC  WoS 
  • 2007 | Journal Article | Research Paper
    ​ ​Colobomatous macrophthalmia with microcornea syndrome maps to the 2p23-p16 region​
    Elcioglu, N. H.; Akin, B.; Toker, E.; Elcioglu, M.; Kaya, A.; Tuncali, T. & Wollnik, B.  et al.​ (2007) 
    American Journal of Medical Genetics, 143A(12) pp. 1308​-1312​.​ DOI: https://doi.org/10.1002/ajmg.a.31766 
    ​Details  DOI  PMID  PMC  WoS 
  • 2007 | Journal Article | Research Paper
    ​ ​Crisponi syndrome is caused by mutations in the CRLF1 gene and is allelic to cold-induced sweating syndrome type 1​
    Crisponi, L.; Crisponi, G.; Meloni, A.; Toliat, M. R.; Nürnberg, G.; Usala, G. & Uda, M. et al.​ (2007) 
    American journal of human genetics, 80(5) pp. 971​-981​.​ DOI: https://doi.org/10.1086/516843 
    ​Details  DOI  PMID  PMC  WoS 
  • 2007 | Journal Article | Research Paper
    ​ ​Lacrimo-auricuto-dento-digital syndrome is caused by reduced activity of the fibroblast growth factor 10 (FGF10)-FGF receptor 2 signaling pathwayv​
    Shams, I.; Rohmann, E.; Eswarakumar, V. P.; Lew, E. D.; Yuzawa, S.; Wollnik, B.   & Schlessinger, J. et al.​ (2007) 
    Molecular and Cellular Biology, 27(19) pp. 6903​-6912​.​ DOI: https://doi.org/10.1128/MCB.00544-07 
    ​Details  DOI  PMID  PMC  WoS 
  • 2007 | Journal Article | Research Paper
    ​ ​A new locus for autosomal recessive non-syndromic mental retardation maps to 1p21.1-p13.3​
    Uyguner, O.; Kayserili, H.; Li, Y.; Karaman, B.; Nürnberg, G.; Hennies, H. C. & Becker, C. et al.​ (2007) 
    Clinical Genetics, 71(3) pp. 212​-219​.​ DOI: https://doi.org/10.1111/j.1399-0004.2007.00762.x 
    ​Details  DOI  PMID  PMC  WoS 
  • 2007 | Journal Article | Research Paper
    ​ ​Involvement of DFNB59 mutations in autosomal recessive nonsyndromic hearing impairment​
    Collin, R. W. J.; Kalay, E.; Oostrik, J.; Caylan, R.; Wollnik, B. ; Arslan, S. & Hollander, A. I. den et al.​ (2007) 
    Human Mutation, 28(7) pp. 718​-723​.​ DOI: https://doi.org/10.1002/humu.20510 
    ​Details  DOI  PMID  PMC  WoS 
  • 2006 | Conference Abstract
    ​ ​Severe manifestation of arrhythmogenic right ventricular cardiomyopathy (ARVC) in a family with a nonsense-mutation in the plakophilin-2 gene​
    Unsoeld, B. W.; Noack, C.; Kranz, A.; Schniebs, C.; Wollnik, B. ; Hasenfuß, G.   & Knoell, R.​ (2006)
    Circulation, 114(18) , Chicago, IL.
    Philadelphia​: Lippincott Williams & Wilkins.
    ​Details  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 | Letter Note
    ​ ​BTNL2 gene variant and sarcoidosis​
    Li, Y.; Wollnik, B. ; Pabst, S.; Lennarz, M.; Rohmann, E.; Gillissen, A. & Vetter, H. et al.​ (2006) 
    Thorax, 61(3) pp. 273​-274​.​ DOI: https://doi.org/10.1136/thx.2005.056564 
    ​Details  DOI  PMID  PMC  WoS 
  • 2006 | Journal Article | Research Paper
    ​ ​Phenotype reveals genotype in a Greek long QT syndrome family​
    Anastasakis, A.; Kotta, C. M.; Kyriakogonas, S.; Wollnik, B. ; Theopistou, A. & Stefanadis, C.​ (2006) 
    EP Europace, 8(4) pp. 241​-244​.​ DOI: https://doi.org/10.1093/europace/eul012 
    ​Details  DOI  PMID  PMC  WoS 
  • 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 
  • 2006 | Journal Article | Research Paper
    ​ ​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. 414​-417​.​ DOI: https://doi.org/10.1038/ng1757 
    ​Details  DOI  PMID  PMC  WoS 
  • 2006 | Journal Article | Research Paper
    ​ ​The R110C mutation in Notch3 causes variable clinical features in two Turkish families with CADASIL syndrome​
    Uyguner, O.; Siva, A.; Kayserili, H.; Saip, S.; Altintas, A.; Apak, M. Y. & Albayram, S. et al.​ (2006) 
    Journal of the Neurological Sciences, 246(1-2) pp. 123​-130​.​ DOI: https://doi.org/10.1016/j.jns.2006.02.021 
    ​Details  DOI  PMID  PMC  WoS 
  • 2006 | Journal Article | Research Paper
    ​ ​Loss of desmoplakin isoform I causes early onset cardiomyopathy and heart failure in a Naxos-like syndrome​
    Uzumcu, A.; Norgett, E. E.; Dindar, A.; Uyguner, O.; Nisli, K.; Kayserili, H. & Sahin, S. E. et al.​ (2006) 
    Journal of Medical Genetics, 43(2) art. e5​.​ DOI: https://doi.org/10.1136/jmg.2005.032904 
    ​Details  DOI  PMID  PMC  WoS 
  • 2005 | Journal Article | Research Paper
    ​ ​A novel D458V mutation in the SANS PDZ binding motif causes atypical Usher syndrome​
    Kalay, E.; Brouwer, A. P. M. de; Caylan, R.; Nabuurs, S. B.; Wollnik, B. ; Karaguzel, A. & Heister, A. J. G. A. M. et al.​ (2005) 
    Journal of Molecular Medicine, 83(12) pp. 1025​-1032​.​ DOI: https://doi.org/10.1007/s00109-005-0719-4 
    ​Details  DOI  PMID  PMC  WoS 
  • 2005 | Journal Article | Research Paper
    ​ ​A new syndrome, congenital extraocular muscle fibrosis with ulnar hand anomalies, maps to chromosome 21qter​
    Tukel, T.; Uzumcu, A.; Gezer, A.; Kayserili, H.; Apak, M. Y.; Uyguner, O. & Gultekin, S. et al.​ (2005) 
    Journal of Medical Genetics, 42(5) pp. 408​-415​.​ DOI: https://doi.org/10.1136/jmg.2004.026138 
    ​Details  DOI  PMID  PMC  WoS 
  • 2005 | Journal Article | Research Paper
    ​ ​A novel homozygous missense mutation in FGF23 causes Familial Tumoral Calcinosis associated with disseminated visceral calcification​
    Chefetz, I.; Heller, R.; Galli-Tsinopoulou, A.; Richard, G.; Wollnik, B. ; Indelman, M. & Koerber, F. et al.​ (2005) 
    Human Genetics, 118(2) pp. 261​-266​.​ DOI: https://doi.org/10.1007/s00439-005-0026-8 
    ​Details  DOI  PMID  PMC  WoS 
  • 2004 | Journal Article
    ​ ​KCNJ11 polymorphisms and sudden cardiac death in patients with acute myocardial infarction​
    Jeron, A.; Hengstenberg, C.; Holmer, S.; Wollnik, B. ; Riegger, G. A. J.; Schunkert, H. & Erdmann, J.​ (2004) 
    Journal of Molecular and Cellular Cardiology, 36(2) pp. 287​-293​.​ DOI: https://doi.org/10.1016/j.yjmcc.2003.11.009 
    ​Details  DOI  PMID  PMC  WoS 
  • 2004 | Journal Article | Research Paper
    ​ ​The results of cytogenetic analysis with regard to intracytoplasmic sperm injection in males, females and fetuses​
    Basaran, S.; Engur, A.; Aytan, M.; Karaman, B.; Ghanem, A.; Toksoy, G. & Yuksel, A. et al.​ (2004) 
    Fetal Diagnosis and Therapy, 19(4) pp. 313​-318​.​ DOI: https://doi.org/10.1159/000077958 
    ​Details  DOI  PMID  PMC  WoS 
  • 2004 | Journal Article
    ​ ​Novel homozygous p.E64D mutation in DJ1 in early onset Parkinson disease (PARK7)​
    Hering, R.; Strauss, K. A.; Tao, X.; Bauer, A.; Woitalla, D.; Mietz, E. M. & Bauer, P. et al.​ (2004) 
    Human Mutation, 24(4) pp. 321​-329​.​ DOI: https://doi.org/10.1002/humu.20089 
    ​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 
  • 2003 | Journal Article | Research Paper
    ​ ​Connexin 43 (GJA1) mutations cause the pleiotropic phenotype of oculodentodigital dysplasia​
    Paznekas, W. A.; Boyadjiev, S. A.; Shapiro, R. E.; Daniels, O.; Wollnik, B. ; Keegan, C. E. & Innis, J. W. et al.​ (2003) 
    American journal of human genetics, 72(2) pp. 408​-418​.​ DOI: https://doi.org/10.1086/346090 
    ​Details  DOI  PMID  PMC  WoS 
  • 2003 | Journal Article | Research Paper
    ​ ​A familial Xp+ chromosome detected during fetal karyotyping, which is associated with short stature in four generations of a Turkish family​
    Karaman, B.; Wollnik, B. ; Ermis, H.; Yüksel Apak, M. & Basaran, S.​ (2003) 
    Prenatal Diagnosis, 23(4) pp. 336​-339​.​ DOI: https://doi.org/10.1002/pd.592 
    ​Details  DOI  PMID  PMC  WoS 
  • 2003 | Journal Article | Research Paper
    ​ ​A novel semiquantitative polymerase chain reaction/enzyme digestion-based method for detection of large scale deletions/conversions of the CYP21 gene and mutation screening in Turkish families with 21-hydroxylase deficiency​
    Tukel, T.; Uyguner, O.; Wei, J. Q.; Yüksel Apak, M.; Saka, N.; Song, D. X. & Kayserili, H. et al.​ (2003) 
    The Journal of Clinical Endocrinology & Metabolism, 88(12) pp. 5893​-5897​.​ DOI: https://doi.org/10.1210/jc.2003-030813 
    ​Details  DOI  PMID  PMC  WoS 
  • 2003 | Journal Article | Research Paper
    ​ ​Frequencies of gap- and tight-junction mutations in Turkish families with autosomal-recessive non-syndromic hearing loss​
    Uyguner, O.; Emiroglu, M. U.; Uzumcu, A.; Hafiz, G.; Ghanem, A.; Baserer, N. & Yüksel Apak, M. et al.​ (2003) 
    Clinical Genetics, 64(1) pp. 65​-69​.​ DOI: https://doi.org/10.1034/j.1399-0004.2003.00101.x 
    ​Details  DOI  PMID  PMC  WoS 
  • 2003 | Journal Article | Research Paper
    ​ ​Molecular analyses of the HGO gene mutations in Turkish alkaptonuria patients suggest that the R58fs mutation originated from Central Asia and was spread throughout Europe and Anatolia by human migrations​
    Uyguner, O.; Jorge, E. G.; Cefle, A.; Baykal, T.; Kayserili, H.; Cefle, K. & Demirkol, M. et al.​ (2003) 
    Journal of Inherited Metabolic Disease, 26(1) pp. 17​-23​.​ DOI: https://doi.org/10.1023/A:1024063126954 
    ​Details  DOI  PMID  PMC  WoS 
  • 2003 | Journal Article | Research Paper
    ​ ​Homozygous and heterozygous inheritance of PAX3 mutations causes different types of Waardenburg syndrome​
    Wollnik, B. ; Tukel, T.; Uyguner, O.; Ghanem, A.; Kayserili, H.; Emiroglu, M. U. & Yüksel Apak, M.​ (2003) 
    American Journal of Medical Genetics, 122A(1) pp. 42​-45​.​ DOI: https://doi.org/10.1002/ajmg.a.20260 
    ​Details  DOI  PMID  PMC  WoS 
  • 2002 | Journal Article | Research Paper
    ​ ​The antihistamine fexofenadine does not affect I-Kr currents in a case report of drug-induced cardiac arrhythmia​
    Scherer, C. R.; Lerche, C.; Decher, N.; Dennis, A. T.; Maier, P.; Ficker, E. & Busch, A. E. et al.​ (2002) 
    British Journal of Pharmacology, 137(6) pp. 892​-900​.​ DOI: https://doi.org/10.1038/sj.bjp.0704873 
    ​Details  DOI  PMID  PMC  WoS 
  • 2002 | Journal Article | Research Paper
    ​ ​CADASIL syndrome in a large Turkish kindred caused by the R90C mutation in the Notch3 receptor​
    Utku, U.; Celik, Y.; Uyguner, O.; Yüksel Apak, M. & Wollnik, B. ​ (2002) 
    European Journal of Neurology, 9(1) pp. 23​-28​.​ DOI: https://doi.org/10.1046/j.1468-1331.2002.00344.x 
    ​Details  DOI  PMID  PMC  WoS 
  • 2002 | Journal Article | Research Paper
    ​ ​Haploinsufficiency of TBX3 causes ulnar-mammary syndrome in a large Turkish family​
    Wollnik, B. ; Kayserili, H.; Uyguner, O.; Tukel, T. & Yüksel Apak, M.​ (2002) 
    Annales de Génétique, 45(4) art. PII S0003-3995(02)01144-9​.​ DOI: https://doi.org/10.1016/S0003-3995(02)01144-9 
    ​Details  DOI  PMID  PMC  WoS 
  • 2002 | Journal Article | Research Paper
    ​ ​Physical map of the chromosome 6q22 region containing the oculodentodigital dysplasia locus: analysis of thirteen candidate genes and identification of novel ESTs and DNA polymorphisms​
    Boyadjiev, S. A.; Chowdry, A. B.; Shapiro, R. E.; Paznekas, W. A.; Wandstrat, A. E.; Choi, J. W. & Kasch, L. et al.​ (2002) 
    Cytogenetic and Genome Research, 98(1) pp. 29​-37​.​ DOI: https://doi.org/10.1159/000068535 
    ​Details  DOI  PMID  PMC  WoS 
  • 2002 | Journal Article | Research Paper
    ​ ​The novel R75Q mutation in the GJB2 gene causes autosomal dominant hearing loss and palmoplantar keratoderma in a Turkish family​
    Uyguner, O.; Tukel, T.; Baykal, C.; Eris, H.; Emiroglu, M. U.; Hafiz, G. & Ghanem, A. et al.​ (2002) 
    Clinical Genetics, 62(4) pp. 306​-309​.​ DOI: https://doi.org/10.1034/j.1399-0004.2002.620409.x 
    ​Details  DOI  PMID  PMC  WoS 
  • 2001 | Journal Article | Research Paper
    ​ ​Campomelic dysplasia without sex reversal in a Turkish patient is due to mutation Ala119Val within the SOX9 gene​
    Jakubiczka, S.; Bettecken, T.; Koch, G.; Tuysuz, B.; Wollnik, B.   & Wieacker, P.​ (2001) 
    Clinical Dysmorphology, 10(3) pp. 197​-201​.​ DOI: https://doi.org/10.1097/00019605-200107000-00009 
    ​Details  DOI  PMID  PMC  WoS 
  • 2001 | Journal Article | Research Paper
    ​ ​Spectrum of clinical phenotypes and gene variants in cardiac myosin-binding protein C mutation carriers with hypertrophic cardiomyopathy​
    Erdmann, J.; Raible, J.; Maki-Abadi, J.; Hummel, M.; Hammann, J.; Wollnik, B.   & Frantz, E. et al.​ (2001) 
    Journal of the American College of Cardiology, 38(2) pp. 322​-330​.​ DOI: https://doi.org/10.1016/S0735-1097(01)01387-0 
    ​Details  DOI  PMID  PMC  WoS 
  • 2001 | Journal Article | Research Paper
    ​ ​HKChIP2 is a functional modifier of hKv4.3 potassium channels: Cloning and expression of a short hKChIP2 splice variant​
    Decher, N.; Uyguner, O.; Scherer, C. R.; Karaman, B.; Yüksel Apak, M.; Busch, A. E. & Steinmeyer, K. et al.​ (2001) 
    Cardiovascular Research, 52(2) art. PII S0008-6363(01)00374-1​.​ DOI: https://doi.org/10.1016/S0008-6363(01)00374-1 
    ​Details  DOI  PMID  PMC  WoS 
  • 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 
  • 1997 | Journal Article | Research Paper
    ​ ​Identification of functionally important regions of the muscular chloride channel CIC-1 by analysis of recessive and dominant myotonic mutations​
    Wollnik, B. ; Kubisch, C.; Steinmeyer, K. & Pusch, M. ​ (1997) 
    Human Molecular Genetics, 6(5) pp. 805​-811​.​ DOI: https://doi.org/10.1093/hmg/6.5.805 
    ​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 
  • 1994 | Journal Article | Research Paper
    ​ ​CLINICAL AND GENETIC-ASPECTS OF THE LONG QT SYNDROME​
    Wollnik, B.   & GUICHENEY, P.​ (1994) 
    Herz, 19(2) pp. 126​-132​.​
    ​Details  PMID  PMC  WoS 
  • 1993 | Journal Article | Research Paper
    ​ ​HYPEROSMOTIC STRESS INDUCES IMMEDIATE-EARLY GENE-EXPRESSION IN VENTRICULAR ADULT CARDIOMYOCYTES​
    Wollnik, B. ; Kubisch, C.; MAASS, A.; Vetter, H. & NEYSES, L.​ (1993) 
    Biochemical and Biophysical Research Communications, 194(2) pp. 642​-646​.​ DOI: https://doi.org/10.1006/bbrc.1993.1869 
    ​Details  DOI  PMID  PMC  WoS 
  • 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)

Type

Subtype

Date issued

Author

Subject

Project

Peer-Reviewed

Organization

Language

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.