Prof. Dr. Bernd Wollnik

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  • 2023 | Preprint
    ​ ​Busley, Alexandra Viktoria, Óscar Gutiérrez-Gutiérrez, Elke Hammer, Martin Steinegger, Linda Böhmer, Henning Schroeder, Mandy Kleinsorge et al​. "LZTR1 polymerization provokes cardiac pathology in recessive Noonan syndrome​." ​Preprint, submitted ​​2023. ​https://mbexc.uni-goettingen.de/literature/publications/646 https://sfb1002.med.uni-goettingen.de/production/literature/publications/465. https://doi.org/10.1101/2023.01.10.523203.
    ​Details  DOI 
  • 2022 | Journal Article | 
    ​ ​Schmidt, Julia, Steffi Dreha-Kulaczewski, Maria Patapia Zafeiriou, Marie-Kristin Schreiber, Bernd Wilken, Rudolf Funke, Christiane M. Neuhofer et al. "Somatic mosaicism in STAG2-associated cohesinopathies: Expansion of the genotypic and phenotypic spectrum​." ​Frontiers in Cell and Developmental Biology ​10 (2022): . ​https://doi.org/10.3389/fcell.2022.1025332.
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  • 2022 | Journal Article | Research Paper | 
    ​ ​Bögershausen, Nina, Hannah E. Krawczyk, Rami A. Jamra, Sheng‐Jia Lin, Gökhan Yigit, Irina Hüning, Anna M. Polo et al. "WARS1 and SARS1: Two tRNA synthetases implicated in autosomal recessive microcephaly​." ​Human Mutation ​43, no. 10 (2022): ​1454​-1471​. ​https://doi.org/10.1002/humu.24430.
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  • 2022 | Journal Article | Research Paper | 
    ​ ​Versemann, Lennart, Shilpa Patil, Benjamin Steuber, Zhe Zhang, Waltraut Kopp, Hannah Elisa Krawczyk, Silke Kaulfuß et al. "TP53-Status-Dependent Oncogenic EZH2 Activity in Pancreatic Cancer​." ​Cancers ​14, no. 14 (2022): . ​https://doi.org/10.3390/cancers14143451.
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  • 2022 | Journal Article | Research Paper | 
    ​ ​Gönenc, Ipek Ilgin, Alexander Wolff, Julia Schmidt, Arne Zibat, Christian Müller, Lukas Cyganek, Loukas Argyriou, Markus Räschle, Gökhan Yigit, and Bernd Wollnik. "Single-cell transcription profiles in Bloom syndrome patients link BLM deficiency with altered condensin complex expression signatures​." ​Human Molecular Genetics (2022): . ​https://doi.org/10.1093/hmg/ddab373.
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  • 2022 | Journal Article
    ​ ​Karakilic‐Ozturan, Esin, Umut Altunoglu, Ayse Pinar Ozturk, Asli Derya Kardelen Al, Zehra Yavas Abali, Sahin Avci, Bernd Wollnik et al. "Evaluation of growth, puberty, osteoporosis, and the response to long‐term bisphosphonate therapy in four patients with osteoporosis‐pseudoglioma syndrome​." ​American Journal of Medical Genetics. Part A (2022): . ​https://doi.org/10.1002/ajmg.a.62742.
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  • 2022 | Preprint
    ​ ​Schnabel, Franziska, Elisabeth Schuler, Almundher Al-Maawali, Ankur Chaurasia, Steffen Syrbe, Adila Al-Kindi, Gandham SriLakshmi Bhav et al​. "Homozygous loss-of-function variants in FILIP1 cause autosomal recessive arthrogryposis multiplex congenita​." ​Preprint, submitted ​​2022. ​https://mbexc.uni-goettingen.de/literature/publications/607. https://doi.org/10.21203/rs.3.rs-2121654/v1.
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  • 2022 | Journal Article | Research Paper | 
    ​ ​Shomroni, Orr, Maren Sitte, Julia Schmidt, Sabnam Parbin, Fabian Ludewig, Gökhan Yigit, Laura Cecilia Zelarayan, Katrin Streckfuss-Bömeke, Bernd Wollnik, and Gabriella Salinas. "A novel single-cell RNA-sequencing approach and its applicability connecting genotype to phenotype in ageing disease​." ​Scientific Reports ​12, no. 1 (2022): ​4091​. ​https://doi.org/10.1038/s41598-022-07874-1.
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  • 2022 | Journal Article | Research Paper | 
    ​ ​Gönenc, Ipek Ilgin, Nursel H. Elcioglu, Carolina Martinez Grijalva, Seda Aras, Nadine Großmann, Inka Praulich, Janine Altmüller et al. "Phenotypic spectrum of BLM‐ and RMI1‐related Bloom syndrome​." ​Clinical Genetics ​101, no. 5-6 (2022): ​559​-564​. ​https://doi.org/10.1111/cge.14125.
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  • 2022 | Journal Article | Research Paper | 
    ​ ​Schmidt, Julia, Felix Bremmer, Knut Brockmann, Silke Kaulfuß, and Bernd Wollnik. "Progressive frontal intraosseous lipoma: Detection of the mosaic AKT1 variant discloses Proteus syndrome​." ​Clinical Genetics ​102, no. 3 (2022): ​cge.14174​. ​https://doi.org/10.1111/cge.14174.
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  • 2021 | Preprint
    ​ ​Gönenc, Ipek Ilgin, Alexander Wolff, Julia Schmidt, Arne Zibat, Christian Müller, Lukas Cyganek, Loukas Argyriou, Markus Räschle, Gökhan Yigit, and Bernd Wollnik​. "Single-cell transcription profiles in Bloom syndrome patients link BLM deficiency with altered condensin complex expression signatures​." ​Preprint, submitted ​​2021. ​https://mbexc.uni-goettingen.de/literature/publications/430. https://doi.org/10.1101/2021.10.01.462717.
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  • 2021 | Journal Article
    ​ ​Gangfuß, Andrea, Gökhan Yigit, Janine Altmüller, Peter Nürnberg, Johanna Christina Czeschik, Bernd Wollnik, Nina Bögershausen et al. "Intellectual disability associated with craniofacial dysmorphism, cleft palate, and congenital heart defect due to a de novo MEIS2 mutation: A clinical longitudinal study​." ​American Journal of Medical Genetics Part A ​185, no. 4 (2021): ​1216​-1221​. ​https://doi.org/10.1002/ajmg.a.62070.
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  • 2021 | Preprint
    ​ ​Shomroni, Orr, Maren Sitte, Julia Schmidt, Sabnam Parbin, Fabian Ludewig, Gökhan Yigit, Laura Cecilia Zelarayan, Katrin Streckfuss-Bömeke, Bernd Wollnik, and Gabriela Salinas​. "A novel single-cell RNA-sequencing platform and its applicability connecting genotype to phenotype in ageing-disease​." ​Preprint, submitted ​​2021. ​https://mbexc.uni-goettingen.de/literature/publications/356 https://sfb1002.med.uni-goettingen.de/production/literature/publications/409. https://doi.org/10.21203/rs.3.rs-957427/v1.
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  • 2021 | Journal Article | Research Paper
    ​ ​Moosa, Shahida, Farida Chentli, Janine Altmüller, Nina Bögershausen, Peter Nürnberg, Gökhan Yigit, Yun Li, and Bernd Wollnik. "Genomic basis of syndromic short stature in an Algerian patient cohort​." ​American Journal of Medical Genetics Part A (2021): . ​https://doi.org/10.1002/ajmg.a.62532.
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  • 2021 | Journal Article | Overview
    ​ ​Yigit, Gökhan, and Bernd Wollnik. "Cellular models and therapeutic perspectives in hypertrophic cardiomyopathy​." ​Medizinische Genetik ​33, no. 3 (2021): ​235​-243​. ​https://doi.org/10.1515/medgen-2021-2094.
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  • 2021 | Journal Article | 
    ​ ​Wade, Emma M., Padmini Parthasarathy, Jingyi Mi, Tim Morgan, Bernd Wollnik, Stephen P. Robertson, and Tim Cundy. "Deletion of the last two exons of FGF10 in a family with LADD syndrome and pulmonary acinar hypoplasia​." ​European Journal of Human Genetics (2021): . ​https://doi.org/10.1038/s41431-021-00902-0.
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  • 2020 | Journal Article
    ​ ​Neuhofer, Christiane M., Rudolf Funke, Bernd Wilken, Alexej Knaus, Janine Altmüller, Peter Nürnberg, Yun Li, Bernd Wollnik, Peter Burfeind, and Silke Pauli. "A Novel Mutation in PIGA Associated with Multiple Congenital Anomalies-Hypotonia-Seizure Syndrome 2 (MCAHS2) in a Boy with a Combination of Severe Epilepsy and Gingival Hyperplasia​." ​Molecular Syndromology ​11, no. 1 (2020): ​30​-37​. ​https://doi.org/10.1159/000505797.
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  • 2020 | Journal Article
    ​ ​Stromiedel, Helen, Chantal Van Quekelberghe, Gökhan Yigit, Ammar Al Naimi, Franz Bahlmann, Robert Sader, Marina Guchlerner et al. "Neugeborenes mit Nasenagenesie: Neonatologische Herausforderungen bei der Versorgung eines Neugeborenen mit Bosma-Arhinie-Mikrophthalmie-Syndrom (BAMS)​." ​Zeitschrift für Geburtshilfe und Neonatologie ​224, no. 06 (2020): ​377​-380​. ​https://doi.org/10.1055/a-1224-4465.
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  • 2020 | Preprint
    ​ ​Kargapolova, Yulia, Rizwan Rehimi, Hülya Kayserili, Joanna Brühl, Anne Zirkel, Yun Li, Gökhan Yigit et al​. "Overarching control of autophagy and DNA damage response by CHD6 revealed by modeling a rare human pathology​." ​Preprint, submitted ​​2020. ​https://mbexc.uni-goettingen.de/literature/publications/8. https://doi.org/10.1101/2020.01.27.921171.
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  • 2020 | Journal Article
    ​ ​Bork, Konrad, Arne Zibat, David M. Ferrari, Bernd Wollnik, Michael P. Schön, Karin Wulff, and Undine Lippert. "Hereditary angioedema in a single family with specific mutations in both plasminogen and SERPING1 genes​." ​Journal der Deutschen Dermatologischen Gesellschaft ​18, no. 3 (2020): ​215​-223​. ​https://doi.org/10.1111/ddg.14036.
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  • 2020 | Journal Article | Research Paper
    ​ ​Schnabel, Franziska, Susanne B. Kamphausen, Rudolf Funke, Silke Kaulfuß, Bernd Wollnik, and Martin Zenker. "Aplasia cutis congenita in a CDC42 ‐ related developmental phenotype​." ​American Journal of Medical Genetics Part A ​185, no. 3 (2020): ​850​-855​. ​https://doi.org/10.1002/ajmg.a.62009.
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  • 2020 | Journal Article | Research Paper | 
    ​ ​Drivas, Theodore G., Dong Li, Divya Nair, Joseph T. Alaimo, Mariëlle Alders, Janine Altmüller, Tahsin Stefan Barakat et al. "A second cohort of CHD3 patients expands the molecular mechanisms known to cause Snijders Blok-Campeau syndrome​." ​European Journal of Human Genetics ​28, no. 10 (2020): ​1422​-1431​. ​https://doi.org/10.1038/s41431-020-0654-4.
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  • 2020 | Journal Article | Research Paper
    ​ ​Hanses, Ulrich, Mandy Kleinsorge, Lennart Roos, Gökhan Yigit, Yun Li, Boris Barbarics, Ibrahim El-Battrawy et al. "Intronic CRISPR Repair in a Preclinical Model of Noonan Syndrome–Associated Cardiomyopathy​." ​Circulation ​142, no. 11 (2020): ​1059​-1076​. ​https://doi.org/10.1161/CIRCULATIONAHA.119.044794.
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  • 2020 | Journal Article | Research Paper | 
    ​ ​Schröder, Simone, Yun Li, Gökhan Yigit, Janine Altmüller, Ingrid Bader, Andrea Bevot, Saskia Biskup et al. "Heterozygous truncating variants in SUFU cause congenital ocular motor apraxia​." ​Genetics in Medicine ​23, no. 2 (2020): ​341​-351​. ​https://doi.org/10.1038/s41436-020-00979-w.
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  • 2020 | Journal Article | Overview | 
    ​ ​Schnabel, Franziska, Uwe Kornak, and Bernd Wollnik. "Premature aging disorders: A clinical and genetic compendium​." ​Clinical Genetics ​99, no. 1 (2020): ​3​-28​. ​https://doi.org/10.1111/cge.13837.
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  • 2020 | Journal Article | Research Paper | 
    ​ ​Ufartes, Roser, Hanna Berger, Katharina Till, Gabriela Salinas, Marc Sturm, Janine Altmüller, Peter Nürnberg et al. "De novo mutations in FBRSL1 cause a novel recognizable malformation and intellectual disability syndrome​." ​Human Genetics ​139, no. 11 (2020): ​1363​-1379​. ​https://doi.org/10.1007/s00439-020-02175-x.
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  • 2020 | Journal Article | Research Paper | 
    ​ ​Ragamin, Aviël, Gökhan Yigit, Kristine Bousset, Filippo Beleggia, Frans W. Verheijen, Marie‐Claire Y. Wit, Tim M. Strom, Thilo Dörk, Bernd Wollnik, and Grazia M. S. Mancini. "Human RAD50 deficiency: Confirmation of a distinctive phenotype​." ​American Journal of Medical Genetics Part A ​182, no. 6 (2020): ​1378​-1386​. ​https://doi.org/10.1002/ajmg.a.61570.
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  • 2020 | Journal Article | Research Paper | 
    ​ ​Ganapathi, Mythily, Loukas Argyriou, Francisco Martínez-Azorín, Susanne Morlot, Gökhan Yigit, Teresa M. Lee, Bernd Auber et al. "Bi-allelic missense disease-causing variants in RPL3L associate neonatal dilated cardiomyopathy with muscle-specific ribosome biogenesis​." ​Human Genetics ​139, no. 11 (2020): ​1443​-1454​. ​https://doi.org/10.1007/s00439-020-02188-6.
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  • 2019 | Journal Article | Research Paper
    ​ ​Moosa, Shahida, Guilherme L. Yamamoto, Lutz Garbes, Katharina Keupp, Ana Beleza-Meireles, Carolina Araujo Moreno, Eugenia Ribeiro Valadares et al. "Autosomal-Recessive Mutations in MESD Cause Osteogenesis Imperfecta​." ​The American Journal of Human Genetics ​105, no. 4 (2019): ​836​-843​. ​https://doi.org/10.1016/j.ajhg.2019.08.008.
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  • 2019 | Journal Article
    ​ ​Pauli, Silke, Janine Altmüller, Simone Schröder, Andreas Ohlenbusch, Steffi Dreha-Kulaczewski, Carsten Bergmann, Peter Nürnberg et al. "Homozygosity for the c.428delG variant in KIAA0586 in a healthy individual: implications for molecular testing in patients with Joubert syndrome​." ​Journal of Medical Genetics ​56, no. 4 (2019): ​261​-264​. ​https://doi.org/10.1136/jmedgenet-2018-105470.
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  • 2019 | Journal Article | 
    ​ ​Lahrouchi, Najim, Aman George, Ilham Ratbi, Ronen Schneider, Siham C. Elalaoui, Shahida Moosa, Sanita Bharti et al. "Homozygous frameshift mutations in FAT1 cause a syndrome characterized by colobomatous-microphthalmia, ptosis, nephropathy and syndactyly​." ​Nature Communications ​10, no. 1 (2019): ​1180​. ​https://doi.org/10.1038/s41467-019-08547-w.
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  • 2019 | Journal Article | 
    ​ ​Nagy, Vanja, Ronja Hollstein, Tsung-Pin Pai, Michel K. Herde, Pisanu Buphamalai, Paul Moeseneder, Ewelina Lenartowicz et al. "HACE1 deficiency leads to structural and functional neurodevelopmental defects​." ​Neurology Genetics ​5, no. 3 (2019): ​e330​. ​https://doi.org/10.1212/NXG.0000000000000330.
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  • 2019 | Journal Article | 
    ​ ​Kalasova, Ilona, Hana Hanzlikova, Neerja Gupta, Yun Li, Janine Altmüller, John J. Reynolds, Grant S. Stewart, Bernd Wollnik, Gökhan Yigit, and Keith W. Caldecott. "Novel PNKP mutations causing defective DNA strand break repair and PARP1 hyperactivity in MCSZ​." ​Neurology Genetics ​5, no. 2 (2019): ​e320​. ​https://doi.org/10.1212/NXG.0000000000000320.
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  • 2019 | Journal Article | 
    ​ ​Hsieh, Tzung-Chien, Martin A Mensah, Jean T Pantel, Dione Aguilar, Omri Bar, Allan Bayat, Luis Becerra-Solano et al. "PEDIA: prioritization of exome data by image analysis​." ​Genetics in Medicine ​21, no. 12 (2019): ​2807​-2814​. ​https://doi.org/10.1038/s41436-019-0566-2.
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  • 2019 | Journal Article | Research Paper | 
    ​ ​Yigit, Gökhan, Ken Saida, Danielle DeMarzo, Noriko Miyake, Atsushi Fujita, Tiong Yang Tan, Susan M. White et al. "The recurrent postzygotic pathogenic variant p.Glu47Lys in RHOA causes a novel recognizable neuroectodermal phenotype​." ​Human Mutation ​41, no. 3 (2019): ​591​-599​. ​https://doi.org/10.1002/humu.23964.
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  • 2018 | Journal Article
    ​ ​Budisteanu, M, N Bögershausen, SM Papuc, S Moosa, M Thoenes, D Riga, A Arghir, and B Wollnik. "Floating-Harbor syndrome: Presentation of the first Romanian patient with a SRCAP mutation and review of the literature​." ​Balkan Journal of Medical Genetics ​21, no. 1 (2018): ​83​-86​. ​https://doi.org/10.2478/bjmg-2018-0005.
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  • 2018 | Journal Article
    ​ ​Vasileiou, Georgia, Silvia Vergarajauregui, Sabine Endele, Bernt Popp, Christian Büttner, Arif B. Ekici, Marion Gerard et al. "Mutations in the BAF-Complex Subunit DPF2 Are Associated with Coffin-Siris Syndrome​." ​The American Journal of Human Genetics ​102, no. 3 (2018): ​468​-479​. ​https://doi.org/10.1016/j.ajhg.2018.01.014.
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  • 2018 | Journal Article
    ​ ​Czepluch, Frauke S., Bernd Wollnik, and Gerd Hasenfuß. "Genetic determinants of heart failure: facts and numbers​." ​ESC Heart Failure ​5, no. 3 (2018): ​211​-217​. ​https://doi.org/10.1002/ehf2.12267.
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  • 2018 | Journal Article
    ​ ​Czepluch, F., G. Hasenfuß, and B. Wollnik. "Moderne humangenetische Beratung: ​Praktische Aspekte am Beispiel der hypertrophen Kardiomyopathie​." ​Der Internist ​59, no. 8 (2018): ​790​-798​. ​https://doi.org/10.1007/s00108-018-0452-z.
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  • 2018 | Journal Article | Research Paper | 
    ​ ​Martin, Carol-Anne, Kata Sarlós, Clare V. Logan, Roshan Singh Thakur, David A. Parry, Anna H. Bizard, Andrea Leitch et al. "Mutations in TOP3A Cause a Bloom Syndrome-like Disorder​." ​The American Journal of Human Genetics ​103, no. 2 (2018): ​221​-231​. ​https://doi.org/10.1016/j.ajhg.2018.07.001.
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  • 2018 | Journal Article | Research Paper
    ​ ​Paolacci, Stefano, Yun Li, Emanuele Agolini, Emanuele Bellacchio, Carlos E Arboleda-Bustos, Dido Carrero, Debora Bertola et al. "Specific combinations of biallelic POLR3A variants cause Wiedemann-Rautenstrauch syndrome​." ​Journal of Medical Genetics ​55, no. 12 (2018): ​837​-846​. ​https://doi.org/10.1136/jmedgenet-2018-105528.
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  • 2018 | Journal Article | 
    ​ ​Bögershausen, Nina, and Bernd Wollnik. "Mutational Landscapes and Phenotypic Spectrum of SWI/SNF-Related Intellectual Disability Disorders​." ​Frontiers in Molecular Neuroscience ​11 (2018): ​252​. ​https://doi.org/10.3389/fnmol.2018.00252.
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  • 2018 | Journal Article | Overview
    ​ ​Schmidt, Julia, and Bernd Wollnik. "Hallermann-Streiff syndrome: A missing molecular link for a highly recognizable syndrome​." ​American Journal of Medical Genetics Part C: Seminars in Medical Genetics ​178, no. 4 (2018): ​398​-406​. ​https://doi.org/10.1002/ajmg.c.31668.
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  • 2017 | Journal Article
    ​ ​Parenti, Ilaria, María E. Teresa-Rodrigo, Jelena Pozojevic, Sara Ruiz Gil, Ingrid Bader, Diana Braunholz, Nuria C. Bramswig et al. "Mutations in chromatin regulators functionally link Cornelia de Lange syndrome and clinically overlapping phenotypes​." ​Human Genetics ​136, no. 3 (2017): ​307​-320​. ​https://doi.org/10.1007/s00439-017-1758-y.
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  • 2017 | Journal Article
    ​ ​Czepluch, Frauke, Bernd Wollnik, and Gerd Hasenfuß. "Genetische Diagnostik bei Kardiomyopathien​." ​DMW - Deutsche Medizinische Wochenschrift ​142, no. 09 (2017): ​657​-664​. ​https://doi.org/10.1055/s-0042-112183.
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  • 2017 | Journal Article
    ​ ​Moosa, Shahida, Annette Haagerup, Pernille Axel Gregersen, Karin Kastberg Petersen, Janine Altmüller, Holger Thiele, Peter Nürnberg et al. "Confirmation of CAGSSS syndrome as a distinct entity in a Danish patient with a novel homozygous mutation inIARS2​." ​American Journal of Medical Genetics Part A ​173, no. 4 (2017): ​1102​-1108​. ​https://doi.org/10.1002/ajmg.a.38116.
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  • 2017 | Journal Article
    ​ ​Bramswig, Nuria C., Hermann-Josef Lüdecke, Fadi F. Hamdan, Janine Altmüller, Filippo Beleggia, Nursel H. Elcioglu, Catharine Freyer et al. "Heterozygous HNRNPU variants cause early onset epilepsy and severe intellectual disability​." ​Human Genetics ​136, no. 7 (2017): ​821​-834​. ​https://doi.org/10.1007/s00439-017-1795-6.
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  • 2017 | Journal Article
    ​ ​Moosa, Shahida, Janine Altmüller, Troels Lyngbye, Rikke Christensen, Yun Li, Peter Nürnberg, Gökhan Yigit, Ida Vogel, and Bernd Wollnik. "Novel compound heterozygous mutations in TELO2 in a patient with severe expression of You-Hoover-Fong syndrome​." ​Molecular Genetics & Genomic Medicine ​5, no. 5 (2017): ​580​-584​. ​https://doi.org/10.1002/mgg3.287.
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  • 2017 | Journal Article
    ​ ​Pinggera, Alexandra, Luisa Mackenroth, Andreas Rump, Jens Schallner, Filippo Beleggia, Bernd Wollnik, and Jörg Striessnig. "New gain-of-function mutation shows CACNA1D as recurrently mutated gene in autism spectrum disorders and epilepsy​." ​Human Molecular Genetics ​26, no. 15 (2017): ​2923​-2932​. ​https://doi.org/10.1093/hmg/ddx175.
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  • 2017 | Journal Article
    ​ ​Moosa, Shahida, Bart Loeys, Janine Altmüller, Geert Mortier, Peter Nürnberg, Yun Li, Bernd Wollnik, and Ida Vogel. "Metatarsal bony syndactyly in 2 fetuses with Smith-Lemli-Opitz syndrome: An under-recognized part of the clinical spectrum​." ​Clinical Genetics ​92, no. 3 (2017): ​342​-343​. ​https://doi.org/10.1111/cge.12990.
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  • 2017 | Journal Article
    ​ ​Paolacci, Stefano, Debora Bertola, José Franco, Shehla Mohammed, Marco Tartaglia, Bernd Wollnik, and Raoul C. Hennekam. "Wiedemann-Rautenstrauch syndrome: A phenotype analysis​." ​American Journal of Medical Genetics Part A ​173, no. 7 (2017): ​1763​-1772​. ​https://doi.org/10.1002/ajmg.a.38246.
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  • 2017 | Journal Article | 
    ​ ​Windpassinger, Christian, Juliette Piard, Carine Bonnard, Majid Alfadhel, Shuhui Lim, Xavier Bisteau, Stéphane Blouin et al. "CDK10 Mutations in Humans and Mice Cause Severe Growth Retardation, Spine Malformations, and Developmental Delays​." ​The American Journal of Human Genetics ​101, no. 3 (2017): ​391​-403​. ​https://doi.org/10.1016/j.ajhg.2017.08.003.
    ​Details  DOI 
  • 2017 | Journal Article | Research Paper
    ​ ​Ehmke, Nadja, Luitgard Graul-Neumann, Lukasz Smorag, Rainer Koenig, Lara Segebrecht, Pilar Magoulas, Fernando Scaglia et al. "De Novo Mutations in SLC25A24 Cause a Craniosynostosis Syndrome with Hypertrichosis, Progeroid Appearance, and Mitochondrial Dysfunction​." ​The American Journal of Human Genetics ​101, no. 5 (2017): ​833​-843​. ​https://doi.org/10.1016/j.ajhg.2017.09.016.
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  • 2017 | Journal Article | Research Paper | 
    ​ ​Borchert, Thomas, Daniela Hübscher, Celina I. Guessoum, Tuan-Dinh D. Lam, Jelena R. Ghadri, Isabel N. Schellinger, Malte Tiburcy et al. "Catecholamine-Dependent β-Adrenergic Signaling in a Pluripotent Stem Cell Model of Takotsubo Cardiomyopathy​." ​Journal of the American College of Cardiology ​70, no. 8 (2017): ​975​-991​. ​https://doi.org/10.1016/j.jacc.2017.06.061.
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  • 2017 | Journal Article
    ​ ​Gordon, Christopher T., Shifeng Xue, Gökhan Yigit, Hicham Filali, Kelan Chen, Nadine Rosin, Koh-ichiro Yoshiura et al. "De novo mutations in SMCHD1 cause Bosma arhinia microphthalmia syndrome and abrogate nasal development​." ​Nature Genetics ​49, no. 2 (2017): ​249​-255​. ​https://doi.org/10.1038/ng.3765.
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  • 2016 | Journal Article | Research Paper | 
    ​ ​Bernhardt, Marten, Marius Priebe, Markus Osterhoff, Bernd Wollnik, Ana Diaz, Tim Salditt, and Florian Rehfeldt. "X-Ray Micro- and Nanodiffraction Imaging on Human Mesenchymal Stem Cells and Differentiated Cells​." ​Biophysical Journal ​110, no. 3 (2016): ​680​-690​. ​https://doi.org/10.1016/j.bpj.2015.12.017.
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  • 2016 | Journal Article | Letter Note
    ​ ​Moosa, S., B. H.-Y. Chung, J. Y.-L. Tung, J. Altmueller, Holger Thiele, P. Nuernberg, C. Netzer, G. Nishimura, and Bernd Wollnik. "Mutations in SEC24D cause autosomal recessive osteogenesis imperfecta​." ​Clinical Genetics ​89, no. 4 (2016): ​517​-519​. ​https://doi.org/10.1111/cge.12678.
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  • 2016 | Journal Article
    ​ ​Hatzold, J., F. Beleggia, H. Herzig, W. Bloch, Bernd Wollnik, and M. Hammerschmidt. "509 Tumor suppression in basal keratinocytes via dual non-cell-autonomous functions of a Na,K-ATPase beta subunit​." ​Journal of Investigative Dermatology ​136, no. 9 (2016): ​S247​. ​https://doi.org/10.1016/j.jid.2016.06.531.
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  • 2016 | Journal Article
    ​ ​Moosa, Shahida, Virginia Fano, Maria Gabriela Obregon, Janine Altmüller, Holger Thiele, Peter Nürnberg, Gen Nishimura, and Bernd Wollnik. "Cover Image, Volume 170A, Number 9, September 2016​." ​American Journal of Medical Genetics Part A ​170, no. 9 (2016): . ​https://doi.org/10.1002/ajmg.a.37884.
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  • 2016 | Journal Article
    ​ ​Moosa, Shahida, Helena Böhrer-Rabel, Janine Altmüller, Filippo Beleggia, Peter Nürnberg, Yun Li, Gökhan Yigit, and Bernd Wollnik. "Smith-Kingsmore syndrome: A third family with the MTOR mutation c.5395G>A p.(Glu1799Lys) and evidence for paternal gonadal mosaicism​." ​American Journal of Medical Genetics Part A ​173, no. 1 (2016): ​264​-267​. ​https://doi.org/10.1002/ajmg.a.37999.
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  • 2016 | Journal Article | Letter Note
    ​ ​Moosa, Shahida, Virginia Fano, Maria Gabriela Obregon, Janine Altmüller, Holger Thiele, Peter Nürnberg, Gen Nishimura, and Bernd Wollnik. "A Novel Homozygous PAM16 Mutation in a Patient with a Milder Phenotype and Longer Survival​." ​American Journal of Medical Genetics ​170, no. 9 (2016): ​2436​-2439​. ​https://doi.org/10.1002/ajmg.a.37823.
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  • 2016 | Journal Article | Research Paper
    ​ ​Bögershausen, Nina, Vincent Gatinois, Vera Riehmer, Hülya Kayserili, Jutta Becker, Michaela Thoenes, Pelin Özlem Simsek-Kiper et al. "Mutation Update for Kabuki Syndrome Genes KMT2D and KDM6A and Further Delineation of X-Linked Kabuki Syndrome Subtype 2​." ​Human Mutation ​37, no. 9 (2016): ​847​-864​. ​https://doi.org/10.1002/humu.23026.
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  • 2016 | Journal Article | Research Paper
    ​ ​Moosa, Shahida, Maria Gabriela Obregon, Janine Altmüller, Holger Thiele, Peter Nürnberg, Virginia Fano, and Bernd Wollnik. "Novel IFT122 Mutations in Three Argentinian Patients with Cranioectodermal Dysplasia: Expanding the Mutational Spectrum​." ​American Journal of Medical Genetics ​170, no. 5 (2016): ​1295​-1301​. ​https://doi.org/10.1002/ajmg.a.37570.
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  • 2016 | Journal Article | Research Paper
    ​ ​Harley, Margaret E., Olga Murina, Andrea Leitch, Martin R. Higgs, Louise S. Bicknell, Gökhan Yigit, Andrew N. Blackford et al. "TRAIP promotes DNA damage response during genome replication and is mutated in primordial dwarfism​." ​Nature Genetics ​48, no. 1 (2016): ​36​-+​. ​https://doi.org/10.1038/ng.3451.
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  • 2016 | Journal Article | 
    ​ ​Hatzold, Julia, Filippo Beleggia, Hannah Herzig, Janine Altmüller, Peter Nürnberg, Wilhelm Bloch, Bernd Wollnik, and Matthias Hammerschmidt. "Tumor suppression in basal keratinocytes via dual non-cell-autonomous functions of a Na,K-ATPase beta subunit​." ​eLife ​5 (2016): ​e14277​. ​https://doi.org/10.7554/eLife.14277.
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  • 2016 | Journal Article | Research Paper
    ​ ​Altmüller, Janine, Susanne Motameny, Christian Becker, Holger Thiele, Sreyoshi Chatterjee, Bernd Wollnik, and Peter Nürnberg. "A systematic comparison of two new releases of exome sequencing products: the aim of use determines the choice of product​." ​Biological Chemistry ​397, no. 8 (2016): ​791​-801​. ​https://doi.org/10.1515/hsz-2015-0300.
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  • 2016 | Journal Article | Research Paper
    ​ ​Boppudi, S., N. Bögershausen, H. B. Hove, E. F. Percin, D. Aslan, R. Dvorsky, G. Kayhan et al. "Specific mosaic KRAS mutations affecting codon 146 cause oculoectodermal syndrome and encephalocraniocutaneous lipomatosis​." ​Clinical Genetics ​90, no. 4 (2016): ​334​-342​. ​https://doi.org/10.1111/cge.12775.
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  • 2016 | Journal Article | Research Paper
    ​ ​Yigit, Gökhan, Dagmar Wieczorek, Nina Boegershausen, Filippo Beleggia, Claudia Moeller-Hartmann, Janine Altmüller, Holger Thiele, Peter Nürnberg, and Bernd Wollnik. "A Syndrome of Microcephaly, Short Stature, Polysyndactyly, and Dental Anomalies Caused by a Homozygous KATNB1 Mutation​." ​American Journal of Medical Genetics ​170, no. 3 (2016): ​728​-733​. ​https://doi.org/10.1002/ajmg.a.37484.
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  • 2016 | Journal Article
    ​ ​Bögershausen, Nina, Umut Altunoglu, Filippo Beleggia, Gökhan Yigit, Hülya Kayserili, Peter Nürnberg, Yun Li, Janine Altmüller, and Bernd Wollnik. "An Unusual Presentation of Kabuki Syndrome with Orbital Cysts, Microphthalmia, and Cholestasis with Bile Duct Paucity​." ​American Journal of Medical Genetics ​170, no. 12 (2016): ​3282​-3288​. ​https://doi.org/10.1002/ajmg.a.37931.
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  • 2016 | Review
    ​ ​Moosa, Shahida, and Bernd Wollnik. "Altered FGF signalling in congenital craniofacial and skeletal disorders​." Seminars in Cell & Developmental Biology ​53​ (2016): ​115​-125​. ​https://doi.org/10.1016/j.semcdb.2015.12.005.
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  • 2015 | Journal Article
    ​ ​Yigit, Goekhan, Nadine Rosin, and Bernd Wollnik. "Molecular basis of autosomal recessive primary microcephaly​." ​Medizinische Genetik ​27, no. 4 (2015): ​345​-350​. ​https://doi.org/10.1007/s11825-015-0068-9.
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  • 2015 | Journal Article
    ​ ​Yigit, Gökhan, Karen E. Brown, Hülya Kayserili, Esther Pohl, Almuth Caliebe, Diana Zahnleiter, Elisabeth Rosser et al. "Mutations in CDK5RAP2 cause Seckel syndrome​." ​Molecular Genetics & Genomic Medicine ​3, no. 5 (2015): ​467​-480​. ​https://doi.org/10.1002/mgg3.158.
    ​Details  DOI 
  • 2015 | Journal Article | Letter Note
    ​ ​Kilic, Esra, Gökhan Yigit, Gulen Eda Utine, Bernd Wollnik, Ercan Mihci, Banu Guzel Nur, and Koray Boduroglu. "A Novel Mutation in RNU4ATAC in a Patient with Microcephalic Osteodysplastic Primordial Dwarfism Type I​." ​American Journal of Medical Genetics ​167, no. 4 (2015): ​919​-921​. ​https://doi.org/10.1002/ajmg.a.36955.
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  • 2015 | Journal Article | Research Paper
    ​ ​Garbes, Lutz, Kyungho Kim, Angelika Riess, Heike Hoyer-Kuhn, Filippo Beleggia, Andrea Bevot, Mi Jeong Kim et al. "Mutations in SEC24D, Encoding a Component of the COPII Machinery, Cause a Syndromic Form of Osteogenesis Imperfecta​." ​American journal of human genetics ​96, no. 3 (2015): ​432​-439​. ​https://doi.org/10.1016/j.ajhg.2015.01.002.
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  • 2015 | Journal Article | Research Paper
    ​ ​Rosin, Nadine, Nursel H. Elcioglu, Filippo Beleggia, Pinar Isguven, Janine Altmüller, Holger Thiele, Katharina Steindl et al. "Mutations in XRCC4 cause primary microcephaly, short stature and increased genomic instability​." ​Human Molecular Genetics ​24, no. 13 (2015): ​3708​-3717​. ​https://doi.org/10.1093/hmg/ddv115.
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  • 2015 | Journal Article | Research Paper
    ​ ​Bramswig, Nuria C., Hermann-Josef Luedecke, Yasemin Alanay, Beate Albrecht, Alexander Barthelmie, Koray Boduroglu, Diana Braunholz et al. "Exome sequencing unravels unexpected differential diagnoses in individuals with the tentative diagnosis of Coffin-Siris and Nicolaides-Baraitser syndromes​." ​Human Genetics ​134, no. 6 (2015): ​553​-568​. ​https://doi.org/10.1007/s00439-015-1535-8.
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  • 2015 | Journal Article | Research Paper
    ​ ​Beleggia, Filippo, Yun Li, Jieqing Fan, Nursel H. Elcioglu, Ebru Toker, Thomas Wieland, Irene H. Maumenee et al. "CRIM1 haploinsufficiency causes defects in eye development in human and mouse​." ​Human Molecular Genetics ​24, no. 8 (2015): ​2267​-2273​. ​https://doi.org/10.1093/hmg/ddu744.
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  • 2015 | Journal Article | Research Paper
    ​ ​Boegershausen, Nina, I-Chun Tsai, Esther Pohl, Pelin Ozlem Simsek Kiper, Filippo Beleggia, E. Ferda Percin, Katharina Keupp et al. "RAP1-mediated MEK/ERK pathway defects in Kabuki syndrome​." ​Journal of Clinical Investigation ​125, no. 9 (2015): ​3585​-3599​. ​https://doi.org/10.1172/JCI80102.
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  • 2014 | Journal Article | Research Paper
    ​ ​Hoyer-Kuhn, Heike, Oliver Semler, Lutz Garbes, Katharina Zimmermann, Jutta Becker, Bernd Wollnik, Eckhard Schoenau, and Christian Netzer. "A Nonclassical IFITM5 Mutation Located in the Coding Region Causes Severe Osteogenesis Imperfecta With Prenatal Onset​." ​Journal of Bone and Mineral Research ​29, no. 6 (2014): ​1387​-1391​. ​https://doi.org/10.1002/jbmr.2156.
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  • 2014 | Journal Article | Research Paper
    ​ ​Hussain, Muhammad Sajid, Agatino Battaglia, Sandra Szczepanski, Emrah Kaygusuz, Mohammad Reza Toliat, Shin-ichi Sakakibara, Janine Altmüller et al. "Mutations in CKAP2L, the Human Homo log of the Mouse Radmis Gene, Cause Filippi Syndrome​." ​American journal of human genetics ​95, no. 5 (2014): ​622​-632​. ​https://doi.org/10.1016/j.ajhg.2014.10.008.
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  • 2014 | Journal Article | Research Paper
    ​ ​Murray, Jennie E., Louise S. Bicknell, Gökhan Yigit, Angela L. Duker, Margriet van Kogelenberg, Sara Haghayegh, Dagmar Wieczorek et al. "Extreme Growth Failure is a Common Presentation of Ligase IV Deficiency​." ​Human Mutation ​35, no. 1 (2014): ​76​-85​. ​https://doi.org/10.1002/humu.22461.
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  • 2014 | Journal Article | Research Paper
    ​ ​Schulz, Yvonne, Luisa Freese, Johanna Maenz, Barbara Zoll, Christiane Voelter, Knut Brockmann, Nina Boegershausen, Jutta Becker, Bernd Wollnik, and Silke Pauli. "CHARGE and Kabuki syndromes: a phenotypic and molecular link​." ​Human Molecular Genetics ​23, no. 16 (2014): ​4396​-4405​. ​https://doi.org/10.1093/hmg/ddu156.
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  • 2013 | Journal Article
    ​ ​Beck, B.B., Bernd Wollnik, and M. Kömhoff. "Ionenkanalerkrankungen der Niere und Nebenniere​." ​Medizinische Genetik ​25, no. 4 (2013): ​480​-485​. ​https://doi.org/10.1007/s11825-013-0423-7.
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  • 2013 | Journal Article | Letter Note
    ​ ​Bögershausen, N., E. Bruford, and B. Wollnik. "In relation to the article "Skirting the pitfalls: a clear-cut nomenclature for H3K4 methyltransferases" by Bogerhausen et al. Response​." ​Clinical Genetics ​83, no. 3 (2013): . ​https://doi.org/10.1111/cge.12099.
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  • 2013 | Journal Article
    ​ ​Keupp, Katharina, Yun Li, Ibrahim Vargel, Alexander Hoischen, Rebecca Richardson, Kornelia Neveling, Yasemin Alanay et al. "Mutations in the interleukin receptor IL11RA cause autosomal recessive Crouzon-like craniosynostosis​." ​Molecular Genetics & Genomic Medicine ​1, no. 4 (2013): ​223​-237​. ​https://doi.org/10.1002/mgg3.28.
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  • 2013 | Journal Article
    ​ ​Rachwalski, M., Bernd Wollnik, and W. Kress. "Klinik und Genetik syndromaler und nichtsyndromaler Kraniosynostosen​." ​Medizinische Genetik ​25, no. 3 (2013): ​373​-387​. ​https://doi.org/10.1007/s11825-013-0412-x.
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  • 2013 | Journal Article | Erratum | 
    ​ ​Pohl, Esther, Ayca Aykut, Filippo Beleggia, Emin Karaca, Burak Durmaz, Katharina Keupp, Esra Arslan et al. "Erratum to: A hypofunctional PAX1 mutation causes autosomal recessively inherited otofaciocervical syndrome​." ​Human Genetics ​132, no. 11 (2013): ​1321​-1321​. ​https://doi.org/10.1007/s00439-013-1341-0.
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  • 2013 | Journal Article | Research Paper
    ​ ​Hussain, Muhammad Sajid, Shahid M. Baig, Sascha Neumann, Vivek S. Peche, Sandra Szczepanski, Gudrun Nürnberg, Muhammad Tariq et al. "CDK6 associates with the centrosome during mitosis and is mutated in a large Pakistani family with primary microcephaly​." ​Human Molecular Genetics ​22, no. 25 (2013): ​5199​-5214​. ​https://doi.org/10.1093/hmg/ddt374.
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  • 2013 | Journal Article | Research Paper
    ​ ​Keupp, Katharina, Filippo Beleggia, Hülya Kayserili, Aileen M. Barnes, Magdalena Steiner, Oliver Semler, Björn Fischer et al. "Mutations in WNT1 Cause Different Forms of Bone Fragility​." ​American journal of human genetics ​92, no. 4 (2013): ​565​-574​. ​https://doi.org/10.1016/j.ajhg.2013.02.010.
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  • 2013 | Journal Article | Research Paper
    ​ ​Pohl, Esther, Ayca Aykut, Filippo Beleggia, Emin Karaca, Burak Durmaz, Katharina Keupp, Esra Arslan et al. "A hypofunctional PAX1 mutation causes autosomal recessively inherited otofaciocervical syndrome​." ​Human Genetics ​132, no. 11 (2013): ​1311​-1320​. ​https://doi.org/10.1007/s00439-013-1337-9.
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  • 2013 | Review
    ​ ​Bögershausen, N., and B. Wollnik. "Unmasking Kabuki syndrome​." Clinical Genetics ​83​, no. 3​ (2013): ​201​-211​. ​https://doi.org/10.1111/cge.12051.
    ​Details  DOI  PMID  PMC  WoS 
  • 2013 | Journal Article | Research Paper
    ​ ​Reintjes, Nadine, Yun Li, Alexandra Becker, Edyta Rohmann, Rita Schmutzler, and Bernd Wollnik. "Activating Somatic FGFR2 Mutations in Breast Cancer​." ​PLoS ONE ​8, no. 3 (2013): ​e60264​. ​https://doi.org/10.1371/journal.pone.0060264.
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  • 2013 | Journal Article | Research Paper
    ​ ​Czeschik, Johanna Christina, C. Voigt, Yasemin Alanay, Beate Albrecht, S. Avci, D. FitzPatrick, D. R. Goudie et al. "Clinical and mutation data in 12 patients with the clinical diagnosis of Nager syndrome​." ​Human Genetics ​132, no. 8 (2013): ​885​-898​. ​https://doi.org/10.1007/s00439-013-1295-2.
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  • 2013 | Journal Article | Research Paper
    ​ ​Boegershausen, Nina, Nassim. Shahrzad, Jessica X. Chong, Jürgen-Christoph von Kleist-Retzow, Daniela Stanga, Yun Li, Francois P. Bernier et al. "Recessive TRAPPC11 Mutations Cause a Disease Spectrum of Limb Girdle Muscular Dystrophy and Myopathy with Movement Disorder and Intellectual Disability​." ​American journal of human genetics ​93, no. 1 (2013): ​181​-190​. ​https://doi.org/10.1016/j.ajhg.2013.05.028.
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  • 2013 | Journal Article | Research Paper
    ​ ​Eisenberger, Tobias, Christine Neuhaus, Arif O. Khan, Christian Decker, Markus N. Preising, Christoph Friedburg, Anika Bieg et al. "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​." ​PLoS ONE ​8, no. 11 (2013): ​e78496​. ​https://doi.org/10.1371/journal.pone.0078496.
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  • 2013 | Journal Article | Research Paper
    ​ ​Kariminejad, Ariana, Barbara Stollfuss, Yun Li, Nina Boegershausen, Karin Boss, Raoul C. M. Hennekam, and Bernd Wollnik. "Severe Cenani-Lenz Syndrome Caused by Loss of LRP4 Function​." ​American Journal of Medical Genetics ​161A, no. 6 (2013): ​1475​-1479​. ​https://doi.org/10.1002/ajmg.a.35920.
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  • 2013 | Journal Article | Research Paper
    ​ ​Zweier, Christiane, Cornelia Kraus, Louise Brueton, Trevor Cole, Franziska Degenhardt, Hartmut Engels, Gabriele Gillessen-Kaesbach et al. "A new face of Borjeson-Forssman-Lehmann syndrome? De novo mutations in PHF6 in seven females with a distinct phenotype​." ​Journal of Medical Genetics ​50, no. 12 (2013): ​838​-847​. ​https://doi.org/10.1136/jmedgenet-2013-101918.
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  • 2013 | Journal Article | Research Paper
    ​ ​Wieczorek, Dagmar, Nina Boegershausen, Filippo Beleggia, Sabine Steiner-Haldenstaett, Esther Pohl, Yun Li, Esther Milz et al. "A comprehensive molecular study on Coffin-Siris and Nicolaides-Baraitser syndromes identifies a broad molecular and clinical spectrum converging on altered chromatin remodeling​." ​Human Molecular Genetics ​22, no. 25 (2013): ​5121​-5135​. ​https://doi.org/10.1093/hmg/ddt366.
    ​Details  DOI  PMID  PMC  WoS 
  • 2013 | Review
    ​ ​Bögershausen, N., E. Bruford, and B. Wollnik. "Skirting the pitfalls: a clear-cut nomenclature for H3K4 methyltransferases​." Clinical Genetics ​83​, no. 3​ (2013): ​212​-214​. ​https://doi.org/10.1111/cge.12050.
    ​Details  DOI  PMID  PMC  WoS 
  • 2013 | Journal Article | Research Paper
    ​ ​Dimopoulou, Aikaterini, Björn Fischer, Thatjana Gardeitchik, Phillipe Schroeter, Hülya Kayserili, Claire Schlack, Yun Li et al. "Genotype phenotype spectrum of PYCR1-related autosomal recessive cutis laxa​." ​Molecular Genetics and Metabolism ​110, no. 3 (2013): ​352​-361​. ​https://doi.org/10.1016/j.ymgme.2013.08.009.
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  • 2012 | Journal Article | Research Paper
    ​ ​Cogulu, Ozgur, B. Durmaz, Bernd Wollnik, A. Durmaz, S. Darcan, and Ferda Ozkinay. "A NEW CLINICAL PRESENTATION ASSOCIATED WITH PONTINE CLEFTING, HYPERPIGMENTATION AND SHORT STATURE IN ADDITION TO CRANIOFACIAL, CARDIAC AND DEVELOPMENTAL ANOMALIES​." ​Genetic Counseling ​23, no. 2 (2012): ​281​-287​. ​
    ​Details  PMID  PMC  WoS 
  • 2012 | Journal Article
    ​ ​Yigit, G., and Bernd Wollnik. "Molekulare Mechanismen des Seckel-Syndroms​." ​Medizinische Genetik ​24, no. 4 (2012): ​284​-288​. ​https://doi.org/10.1007/s11825-012-0359-3.
    ​Details  DOI 
  • 2012 | Journal Article | 
    ​ ​Wollnik, Bernd, and Uwe Kornak. "Progeroide Erkrankungen und ihre Mechanismen​." ​Medizinische Genetik ​24, no. 4 (2012): ​253​-256​. ​https://doi.org/10.1007/s11825-012-0350-z.
    ​Details  DOI 
  • 2012 | Journal Article | Research Paper
    ​ ​Semler, Oliver, Lutz Garbes, Katharina Keupp, Daniel Swan, Katharina Zimmermann, Jutta Becker, Sandra Iden et al. "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​." ​American journal of human genetics ​91, no. 2 (2012): ​349​-357​. ​https://doi.org/10.1016/j.ajhg.2012.06.011.
    ​Details  DOI  PMID  PMC  WoS 
  • 2012 | Journal Article | Research Paper | 
    ​ ​Yüksel Apak, Memnune, Nina Boegershausen, Barbara Pawlik, Yun Li, Selcuk Apak, Oya Uyguner, Esther Milz et al. "A large duplication involving the IHH locus mimics acrocallosal syndrome​." ​European Journal of Human Genetics ​20, no. 6 (2012): ​639​-644​. ​https://doi.org/10.1038/ejhg.2011.250.
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  • 2012 | Journal Article | Research Paper
    ​ ​Asharani, P. V., Katharina Keupp, Oliver Semler, Wenshen Wang, Yun Li, Holger Thiele, Gökhan Yigit et al. "Attenuated BMP1 Function Compromises Osteogenesis, Leading to Bone Fragility in Humans and Zebrafish​." ​American journal of human genetics ​90, no. 4 (2012): ​661​-674​. ​https://doi.org/10.1016/j.ajhg.2012.02.026.
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  • 2012 | Journal Article | Research Paper
    ​ ​von Ameln, Simon, Geng Wang, Redouane Boulouiz, Mark A. Rutherford, Geoffrey M. Smith, Yun Li, Hans-Martin Pogoda et al. "A Mutation in PNPT1, Encoding Mitochondrial-RNA-Import Protein PNPase, Causes Hereditary Hearing Loss​." ​American journal of human genetics ​91, no. 5 (2012): ​919​-927​. ​https://doi.org/10.1016/j.ajhg.2012.09.002.
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  • 2011 | Journal Article | Research Paper
    ​ ​Laue, Kathrin, Hans-Martin Pogoda, Philip B. Daniel, Arie van Haeringen, Yasemin Alanay, Simon von Ameln, Martin Rachwalski et al. "Craniosynostosis and Multiple Skeletal Anomalies in Humans and Zebrafish Result from a Defect in the Localized Degradation of Retinoic Acid​." ​American journal of human genetics ​89, no. 5 (2011): ​595​-606​. ​https://doi.org/10.1016/j.ajhg.2011.09.015.
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  • 2011 | Journal Article | Research Paper
    ​ ​Borck, Guntram, Heidrun Wunram, Angela Steiert, Alexander E. Volk, Friederike Koerber, Sigrid Roters, Peter Herkenrath, Bernd Wollnik, Deborah J. Morris-Rosendahl, and Christian Kubisch. "A homozygous RAB3GAP2 mutation causes Warburg Micro syndrome​." ​Human Genetics ​129, no. 1 (2011): ​45​-50​. ​https://doi.org/10.1007/s00439-010-0896-2.
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  • 2011 | Journal Article | Research Paper
    ​ ​Becker, Jutta, Oliver Semler, Christian Gilissen, Yun Li, Hanno Jörn Bolz, Cecilia Giunta, Carsten Bergmann et al. "Exome Sequencing Identifies Truncating Mutations in Human SERPINF1 in Autosomal-Recessive Osteogenesis Imperfecta​." ​American journal of human genetics ​88, no. 3 (2011): ​362​-371​. ​https://doi.org/10.1016/j.ajhg.2011.01.015.
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  • 2011 | Journal Article | Research Paper
    ​ ​Kalay, Ersan, Gökhan Yigit, Yakup Aslan, Karen E. Brown, Esther Pohl, Louise S. Bicknell, Hülya Kayserili et al. "CEP152 is a genome maintenance protein disrupted in Seckel syndrome​." ​Nature Genetics ​43, no. 1 (2011): ​23​-26​. ​https://doi.org/10.1038/ng.725.
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  • 2011 | Journal Article | Research Paper
    ​ ​Kayserili, Hülya, Bernd Wollnik, Gamze Guven, Melike Ulubil Emiroglu, Nermin Baserer, and Oya Uyguner. "A Novel Homozygous COL11A2 Deletion Causes a C-Terminal Protein Truncation With Incomplete mRNA Decay in a Turkish Patient​." ​American Journal of Medical Genetics ​155A, no. 1 (2011): ​180​-185​. ​https://doi.org/10.1002/ajmg.a.33780.
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  • 2011 | Journal Article | Research Paper
    ​ ​Borck, Guntram, Atteeq Ur Rehman, Kwanghyuk Lee, Hans-Martin Pogoda, Naseebullah Kakar, Simon von Ameln, Nicolas Grillet et al. "Loss-of-Function Mutations of ILDR1 Cause Autosomal-Recessive Hearing Impairment DFNB42​." ​American journal of human genetics ​88, no. 2 (2011): ​127​-137​. ​https://doi.org/10.1016/j.ajhg.2010.12.011.
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  • 2011 | Journal Article | Research Paper
    ​ ​Li, Yun, Nina Boegershausen, Yasemin Alanay, Pelin Ozlem Simsek Kiper, Nadine Plume, Katharina Keupp, Esther Pohl et al. "A mutation screen in patients with Kabuki syndrome​." ​Human Genetics ​130, no. 6 (2011): ​715​-724​. ​https://doi.org/10.1007/s00439-011-1004-y.
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  • 2011 | Journal Article | Research Paper
    ​ ​Frenzel, Lukas P., Rainer Claus, Nadine Plume, Janine Schwamb, Carolin Konermann, Christian P. Pallasch, Julia Claasen et al. "Sustained NF-kappaB activity in chronic lymphocytic leukemia is independent of genetic and epigenetic alterations in the TNFAIP3 (A20) locus​." ​International Journal of Cancer ​128, no. 10 (2011): ​2495​-2500​. ​https://doi.org/10.1002/ijc.25579.
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  • 2010 | Journal Article
    ​ ​Reversade, B., N. Escande-Beillard, A. Dimopoulou, B. Fischer, Y. Li, H. Kayserili, L. Al-Gazali et al. "Mutations in Pycr1 cause progeroid changes in skin and bone due to reduced mitochondrial stress resistance​." ​Bone ​47 (2010): ​154​-155​. ​https://doi.org/10.1016/j.bone.2010.04.356.
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  • 2010 | Journal Article
    ​ ​Pawlik, Barbara, A. Mir, H. Iqbal, Y. Li, Gudrun Nürnberg, C. Becker, R. Qamar, Peter Nürnberg, and Bernd Wollnik. "A Novel Familial BBS12 Mutation Associated with a Mild Phenotype: Implications for Clinical and Molecular Diagnostic Strategies​." ​Molecular Syndromology ​1, no. 1 (2010): ​27​-34​. ​https://doi.org/10.1159/000276763.
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  • 2010 | Journal Article | Research Paper
    ​ ​Li, Yun, Kathrin Laue, Samia Temtamy, Mona Aglan, L. Damla Kotan, Gökhan Yigit, Husniye Canan et al. "Temtamy Preaxial Brachydactyly Syndrome Is Caused by Loss-of-Function Mutations in Chondroitin Synthase 1, a Potential Target of BMP Signaling​." ​American journal of human genetics ​87, no. 6 (2010): ​757​-767​. ​https://doi.org/10.1016/j.ajhg.2010.10.003.
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  • 2010 | Journal Article
    ​ ​Uz, Elif, Yasemin Alanay, Dilek Aktas, Ibrahim Vargel, Safak Gucer, Gokhan Tuncbilek, Ferdinand von Eggeling et al. "Disruption of ALX1 Causes Extreme Microphthalmia and Severe Facial Clefting: Expanding the Spectrum of Autosomal-Recessive ALX-Related Frontonasal Dysplasia​." ​American journal of human genetics ​86, no. 5 (2010): ​789​-796​. ​https://doi.org/10.1016/j.ajhg.2010.04.002.
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  • 2010 | Journal Article | Research Paper
    ​ ​Wieczorek, Dagmar, Barbara Pawlik, Yun Li, Nurten Ayse Akarsu, Almuth Caliebe, Klaus J. W. May, Bernd Schweiger et al. "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​." ​Human Mutation ​31, no. 1 (2010): ​81​-89​. ​https://doi.org/10.1002/humu.21142.
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  • 2010 | Journal Article | Letter Note
    ​ ​Wollnik, Bernd. "A common mechanism for microcephaly​." ​Nature Genetics ​42, no. 11 (2010): ​923​-924​. ​https://doi.org/10.1038/ng1110-923.
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  • 2010 | Journal Article | Research Paper
    ​ ​Li, Yun, Barbara Pawlik, Nursel H. Elcioglu, Mona Aglan, Hülya Kayserili, Gökhan Yigit, E. Ferda Percin et al. "LRP4 Mutations Alter Wnt/beta-Catenin Signaling and Cause Limb and Kidney Malformations in Cenani-Lenz Syndrome​." ​American journal of human genetics ​86, no. 5 (2010): ​696​-706​. ​https://doi.org/10.1016/j.ajhg.2010.03.004.
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  • 2010 | Journal Article | Research Paper
    ​ ​Karner, Courtney M., M. Dietrich, Eric B. Johnson, Natalie Kappesser, Christian Tennert, E. Ferda Percin, Bernd Wollnik, Thomas J. Carroll, and Joachim Herz. "Lrp4 Regulates Initiation of Ureteric Budding and Is Crucial for Kidney Formation - A Mouse Model for Cenani-Lenz Syndrome​." ​PLoS ONE ​5, no. 4 (2010): ​e10418​. ​https://doi.org/10.1371/journal.pone.0010418.
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  • 2010 | Journal Article | Letter Note
    ​ ​Li, Yun, Stefan Pabst, Christian Kubisch, Christian Grohe, and Bernd Wollnik. "First independent replication study confirms the strong genetic association of ANXA11 with sarcoidosis​." ​Thorax ​65, no. 10 (2010): ​939​-940​. ​https://doi.org/10.1136/thx.2010.138743.
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  • 2009 | Journal Article | Research Paper
    ​ ​Elcioglu, Nursel H., Barbara Pawlik, B. Colak, M. Beck, and Bernd Wollnik. "A NOVEL LOSS-OF-FUNCTION MUTATION IN THE GNS GENE CAUSES SANFILIPPO SYNDROME TYPE D​." ​Genetic Counseling ​20, no. 2 (2009): ​133​-139​. ​
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  • 2009 | Conference Abstract
    ​ ​Unsoeld, Bernhard W., Sylvia Gunkel, Josee Vouffo, Conny Pfeiffer, Andrea Kranz, Dirk Lossnitzer, Bernd Wollnik et al. "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​." ​Circulation ​120​, ​no. 18 (2009): 
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  • 2009 | Journal Article
    ​ ​Baş, Firdevs, Hülya Kayserili, Feyza Darendeliler, Oya Uyguner, Hülya Günöz, Memnune Yüksel Apak, Fatmahan Atalar et al. "CYP21A2 Gene Mutations in Congenital Adrenal Hyperplasia: Genotype-phenotype correlation in Turkish children​." ​Journal of Clinical Research in Pediatric Endocrinology ​1, no. 3 (2009): ​116​-128​. ​https://doi.org/10.4008/jcrpe.v1i3.49.
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  • 2009 | Journal Article | Research Paper
    ​ ​Li, Y., Stefan Pabst, S. Lokhande, Christian Grohe, and Bernd Wollnik. "Extended genetic analysis of BTNL2 in sarcoidosis​." ​Tissue Antigens ​73, no. 1 (2009): ​59​-61​. ​https://doi.org/10.1111/j.1399-0039.2008.01180.x.
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  • 2009 | Journal Article
    ​ ​Kayserili, Hülya, Elif Uz, Carien Niessen, Ibrahim Vargel, Yasemin Alanay, Gokhan Tuncbilek, Gökhan Yigit et al. "ALX4 dysfunction disrupts craniofacial and epidermal development​." ​Human Molecular Genetics ​18, no. 22 (2009): ​4357​-4366​. ​https://doi.org/10.1093/hmg/ddp391.
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  • 2009 | Journal Article | Research Paper
    ​ ​Valencia, Maria, Pablo Lapunzina, Derek Lim, Raffaella Zannolli, Deborah Bartholdi, Bernd Wollnik, Othman Al-Ajlouni et al. "Widening the Mutation Spectrum of EVC and EVC2: Ectopic Expression of Weyer Variants in NIH 3T3 Fibroblasts Disrupts Hedgehog Signaling​." ​Human Mutation ​30, no. 12 (2009): ​1667​-1675​. ​https://doi.org/10.1002/humu.21117.
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  • 2009 | Journal Article | Research Paper
    ​ ​Reversade, Bruno, Nathalie Escande-Beillard, Aikaterini Dimopoulou, Björn Fischer, Serene C. Chng, Yun Li, Mohammad Shboul et al. "Mutations in PYCR1 cause cutis laxa with progeroid features​." ​Nature Genetics ​41, no. 9 (2009): ​1016​-U88​. ​https://doi.org/10.1038/ng.413.
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  • 2009 | Journal Article | Research Paper
    ​ ​Nahum, Sagi, Sandra M. Pasternack, Jana Pforr, Margarita Indelman, Bernd Wollnik, Reuven Bergman, Markus M. Noethen et al. "A large duplication in LIPH underlies autosomal recessive hypotrichosis simplex in four Middle Eastern families​." ​Archives of Dermatological Research ​301, no. 5 (2009): ​391​-393​. ​https://doi.org/10.1007/s00403-008-0903-9.
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  • 2009 | Journal Article | Research Paper
    ​ ​Durmaz, Burak, Bernd Wollnik, Ozgur Cogulu, Yun Li, Hasan Tekgul, Filiz Hazan, and Ferda Ozkinay. "Pontocerebellar hypoplasia type III (CLAM): Extended phenotype and novel molecular findings​." ​Journal of Neurology ​256, no. 3 (2009): ​416​-419​. ​https://doi.org/10.1007/s00415-009-0094-0.
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  • 2009 | Journal Article | Research Paper
    ​ ​Chung, Boi-Dinh, Hülya Kayserili, Minrong Ai, Jan Freudenberg, Abdullah Uezmcue, Oya Uyguner, Cynthia F. Bartels et al. "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​." ​Human Mutation ​30, no. 4 (2009): ​641​-648​. ​https://doi.org/10.1002/humu.20916.
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  • 2008 | Journal Article | Research Paper
    ​ ​Kaplan, Y., I. Vargel, T. Kansu, B. Akin, E. Rohmann, S. Kamaci, E. Uz, T. Ozcelik, B. Wollnik, and N. A. Akarsu. "Skewed X inactivation in an X linked nystagmus family resulted from a novel, p.R229G, missense mutation in the FRMD7 gene​." ​British Journal of Ophthalmology ​92, no. 1 (2008): ​135​-141​. ​https://doi.org/10.1136/bjo.2007.128157.
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  • 2008 | Journal Article
    ​ ​Witsch-Baumgartner, M., I. Schwentner, M. Gruber, P. Benlian, J. Bertranpetit, E. Bieth, F. Chevy et al. "Age and origin of major Smith-Lemli-Opitz syndrome (SLOS) mutations in European populations​." ​Journal of Medical Genetics ​45, no. 4 (2008): ​200​-209​. ​https://doi.org/10.1136/jmg.2007.053520.
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  • 2008 | Journal Article | Research Paper
    ​ ​Pabst, Stefan, Bernd Wollnik, Edyta Rohmann, Y. Hintz, K. Glaenzer, H. Vetter, Georg Nickenig, and Christian Grohe. "A novel stop mutation truncating critical regions of the cardiac transcription factor NKX2-5 in a large family with autosomaldominant inherited congenital heart disease​." ​Clinical Research in Cardiology ​97, no. 1 (2008): ​39​-42​. ​https://doi.org/10.1007/s00392-007-0574-0.
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  • 2008 | Journal Article | Research Paper
    ​ ​Hilgert, N., F. Alasti, N. Dieltjens, Barbara Pawlik, Bernd Wollnik, Oya Uyguner, S. Delmaghani et al. "Mutation analysis of TMC1 identifies four new mutations and suggests an additional deafness gene at loci DFNA36 and DFNB7/11​." ​Clinical Genetics ​74, no. 3 (2008): ​223​-232​. ​https://doi.org/10.1111/j.1399-0004.2008.01053.x.
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  • 2008 | Journal Article | Letter Note
    ​ ​Boulouiz, Redouane, Yun Li, Hafid Soualhine, Omar Abidi, Abdelaziz Chafik, Gudrun Nürnberg, Christian Becker et al. "A Novel Mutation in the Espin Gene Causes Autosomal Recessive Nonsyndromic Hearing Loss But No Apparent Vestibular Dysfunction in a Moroccan Family​." ​American Journal of Medical Genetics ​146A, no. 23 (2008): ​3086​-3089​. ​https://doi.org/10.1002/ajmg.a.32525.
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  • 2008 | Journal Article | Research Paper
    ​ ​Collin, Rob W. J., Ersan Kalay, Muhammad Tariq, Theo Peters, Bert van der Zwaag, Hanka Venselaar, Jaap Oostrik et al. "Mutations of ESRRB encoding estrogen-related receptor beta cause autosomal-recessive nonsyndromic hearing impairment DFNB35​." ​American journal of human genetics ​82, no. 1 (2008): ​125​-138​. ​https://doi.org/10.1016/j.ajhg.2007.09.008.
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  • 2008 | Journal Article | Research Paper
    ​ ​Budde, Birgit, Yasmin Namavar, Peter G. Barth, Bwee Tien Poll-The, Gudrun Nürnberg, Christian Becker, Fred van Ruissen et al. "tRNA splicing endonuclease mutations cause pontocerebellar hypoplasia​." ​Nature Genetics ​40, no. 9 (2008): ​1113​-1118​. ​https://doi.org/10.1038/ng.204.
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  • 2007 | Conference Abstract
    ​ ​Unsoeld, Bernhard W., C. Pfeiffer, Sylvia Gunkel, C. Noack, A. Schmidt, Dirk Lossnitzer, Bernd Wollnik, Eric Schulze-Bahr, Gerd Hasenfuß, and Ralph Knoell. "The nonsense-mutation R413X in the plakophilin-2 gene causes a severe inherited form of arrhythmogenic right ventricular cardiomyopathy (ARVC) in a large family​." ​European Heart Journal ​28​ ​(2007): ​32​-33. 
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  • 2007 | Journal Article | Research Paper
    ​ ​Boulouiz, Redouane, Yun Li, Omar Abidi, Hanno J. Bolz, Abdelaziz Chafik, Christian Kubisch, Hassan Rouba, Bernd Wollnik, and Abdelhamid Barakat. "Analysis of MYO7A in a Moroccan family with Usher syndrome type 1B: novel loss-of-function mutation and non-pathogenicity of p.Y1719C​." ​Molecular vision ​13, no. 204-08 (2007): ​1862​-1865​. ​
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  • 2007 | Journal Article | Research Paper
    ​ ​Kalay, Ersan, Abdullah Uzumcu, Elmar Krieger, Refik Caylan, Oya Uyguner, Melike Ulubil-Emiroglu, Hidayet Erdol et al. "MY015A (DFNB3) mutations in Turkish hearing loss families and functional modeling of a novel motor domain mutation​." ​American Journal of Medical Genetics ​143A, no. 20 (2007): ​2382​-2389​. ​https://doi.org/10.1002/ajmg.a.31937.
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  • 2007 | Journal Article | Research Paper
    ​ ​Antzelevitch, Charles, Guido D. Pollevick, Jonathan M. Cordeiro, Oscar Casis, Michael C. Sanguinetti, Yoshiyasu Aizawa, Alejandra Guerchicoff et al. "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​." ​Circulation ​115, no. 4 (2007): ​442​-449​. ​https://doi.org/10.1161/CIRCULATIONAHA.106.668392.
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  • 2007 | Journal Article | Research Paper
    ​ ​Elcioglu, Nursel H., Burcu Akin, Ebru Toker, Mustafa Elcioglu, Ali Kaya, Timur Tuncali, Bernd Wollnik, Steha Hornby, and Nurten Ayse Akarsu. "Colobomatous macrophthalmia with microcornea syndrome maps to the 2p23-p16 region​." ​American Journal of Medical Genetics ​143A, no. 12 (2007): ​1308​-1312​. ​https://doi.org/10.1002/ajmg.a.31766.
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  • 2007 | Journal Article | Research Paper
    ​ ​Crisponi, Laura, Giangiorgio Crisponi, Alessandra Meloni, Mohammad Reza Toliat, Gudrun Nürnberg, Gianluca Usala, Manuela Uda et al. "Crisponi syndrome is caused by mutations in the CRLF1 gene and is allelic to cold-induced sweating syndrome type 1​." ​American journal of human genetics ​80, no. 5 (2007): ​971​-981​. ​https://doi.org/10.1086/516843.
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  • 2007 | Journal Article | Research Paper
    ​ ​Shams, Imad, Edyta Rohmann, Veraragavan P. Eswarakumar, Erin D. Lew, Satoru Yuzawa, Bernd Wollnik, Joseph Schlessinger, and Irit Lax. "Lacrimo-auricuto-dento-digital syndrome is caused by reduced activity of the fibroblast growth factor 10 (FGF10)-FGF receptor 2 signaling pathwayv​." ​Molecular and Cellular Biology ​27, no. 19 (2007): ​6903​-6912​. ​https://doi.org/10.1128/MCB.00544-07.
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  • 2007 | Journal Article | Research Paper
    ​ ​Uyguner, Oya, Hülya Kayserili, Y. Li, Birsen Karaman, Gudrun Nürnberg, Hans C. Hennies, C. Becker et al. "A new locus for autosomal recessive non-syndromic mental retardation maps to 1p21.1-p13.3​." ​Clinical Genetics ​71, no. 3 (2007): ​212​-219​. ​https://doi.org/10.1111/j.1399-0004.2007.00762.x.
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  • 2007 | Journal Article | Research Paper
    ​ ​Collin, Rob W. J., Ersan Kalay, Jaap Oostrik, Refik Caylan, Bernd Wollnik, Selcuk Arslan, Anneke I. den Hollander et al. "Involvement of DFNB59 mutations in autosomal recessive nonsyndromic hearing impairment​." ​Human Mutation ​28, no. 7 (2007): ​718​-723​. ​https://doi.org/10.1002/humu.20510.
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  • 2007 | Journal Article | Research Paper
    ​ ​Lew, Erin D., Jae Hyun Bae, Edyta Rohmann, Bernd Wollnik, and Joseph Schlessinger. "Structural basis for reduced FGFR2 activity in LADD syndrome: Implications for FGFR autoinhibition and activation​." ​Proceedings of the National Academy of Sciences ​104, no. 50 (2007): ​19802​-19807​. ​https://doi.org/10.1073/pnas.0709905104.
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  • 2006 | Conference Abstract
    ​ ​Unsoeld, Bernhard W., Corinna Noack, Andrea Kranz, Conny Schniebs, Bernd Wollnik, Gerd Hasenfuß, and Ralph Knoell. "Severe manifestation of arrhythmogenic right ventricular cardiomyopathy (ARVC) in a family with a nonsense-mutation in the plakophilin-2 gene​." ​Circulation ​114​, ​no. 18 (2006): 
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  • 2006 | Journal Article | Erratum | 
    ​ ​Rohmann, Edyta, Han G Brunner, Hülya Kayserili, Oya Uyguner, Gudrun Nürnberg, Erin D Lew, Angus Dobbie et al. "Erratum: Mutations in different components of FGF signaling in LADD syndrome​." ​Nature Genetics ​38, no. 4 (2006): ​495​-495​. ​https://doi.org/10.1038/ng0406-495.
    ​Details  DOI 
  • 2006 | Journal Article | Research Paper
    ​ ​Kalay, Ersan, Y Li, Abdullah Uzumcu, Oya Uyguner, Rob W. J. Collin, Refik Caylan, Melike Ulubil-Emiroglu et al. "Mutations in the lipoma HMGIC fusion partner-like 5 (LHFPL5) gene cause autosomal recessive nonsyndromic hearing loss​." ​Human Mutation ​27, no. 7 (2006): ​633​-639​. ​https://doi.org/10.1002/humu.20368.
    ​Details  DOI  PMID  PMC  WoS 
  • 2006 | Journal Article | Research Paper
    ​ ​Rohmann, Edyta, Han G. Brunner, Hülya Kayserili, Oya Uyguner, Gudrun Nürnberg, Erin D. Lew, Angus Dobbie et al. "Mutations in different components of FGF signaling in LADD syndrome​." ​Nature Genetics ​38, no. 4 (2006): ​414​-417​. ​https://doi.org/10.1038/ng1757.
    ​Details  DOI  PMID  PMC  WoS 
  • 2006 | Journal Article | Research Paper
    ​ ​Uyguner, Oya, A Siva, Hülya Kayserili, S Saip, A Altintas, M. Y. Apak, S. Albayram et al. "The R110C mutation in Notch3 causes variable clinical features in two Turkish families with CADASIL syndrome​." ​Journal of the Neurological Sciences ​246, no. 1-2 (2006): ​123​-130​. ​https://doi.org/10.1016/j.jns.2006.02.021.
    ​Details  DOI  PMID  PMC  WoS 
  • 2006 | Journal Article | Research Paper
    ​ ​Uzumcu, Abdullah, E. E. Norgett, A. Dindar, Oya Uyguner, K Nisli, Hülya Kayserili, S. E. Sahin et al. "Loss of desmoplakin isoform I causes early onset cardiomyopathy and heart failure in a Naxos-like syndrome​." ​Journal of Medical Genetics ​43, no. 2 (2006): ​e5​. ​https://doi.org/10.1136/jmg.2005.032904.
    ​Details  DOI  PMID  PMC  WoS 
  • 2006 | Journal Article | Letter Note
    ​ ​Li, Y, Bernd Wollnik, Stefan Pabst, M. Lennarz, Edyta Rohmann, A Gillissen, H. Vetter, and Christian Grohe. "BTNL2 gene variant and sarcoidosis​." ​Thorax ​61, no. 3 (2006): ​273​-274​. ​https://doi.org/10.1136/thx.2005.056564.
    ​Details  DOI  PMID  PMC  WoS 
  • 2006 | Journal Article | Research Paper
    ​ ​Anastasakis, A., C. M. Kotta, S Kyriakogonas, Bernd Wollnik, A Theopistou, and C Stefanadis. "Phenotype reveals genotype in a Greek long QT syndrome family​." ​EP Europace ​8, no. 4 (2006): ​241​-244​. ​https://doi.org/10.1093/europace/eul012.
    ​Details  DOI  PMID  PMC  WoS 
  • 2005 | Journal Article | Research Paper
    ​ ​Chefetz, I., Raoul Heller, A Galli-Tsinopoulou, G. Richard, Bernd Wollnik, Margarita Indelman, Friederike Koerber et al. "A novel homozygous missense mutation in FGF23 causes Familial Tumoral Calcinosis associated with disseminated visceral calcification​." ​Human Genetics ​118, no. 2 (2005): ​261​-266​. ​https://doi.org/10.1007/s00439-005-0026-8.
    ​Details  DOI  PMID  PMC  WoS 
  • 2005 | Journal Article | Research Paper
    ​ ​Kalay, Ersan, A. P. M. de Brouwer, Refik Caylan, S. B. Nabuurs, Bernd Wollnik, Ahmet Karaguzel, A. J. G. A. M. Heister et al. "A novel D458V mutation in the SANS PDZ binding motif causes atypical Usher syndrome​." ​Journal of Molecular Medicine ​83, no. 12 (2005): ​1025​-1032​. ​https://doi.org/10.1007/s00109-005-0719-4.
    ​Details  DOI  PMID  PMC  WoS 
  • 2005 | Journal Article | Research Paper
    ​ ​Tukel, T., Abdullah Uzumcu, A Gezer, Hülya Kayserili, M. Y. Apak, Oya Uyguner, SH Gultekin et al. "A new syndrome, congenital extraocular muscle fibrosis with ulnar hand anomalies, maps to chromosome 21qter​." ​Journal of Medical Genetics ​42, no. 5 (2005): ​408​-415​. ​https://doi.org/10.1136/jmg.2004.026138.
    ​Details  DOI  PMID  PMC  WoS 
  • 2004 | Journal Article | Research Paper
    ​ ​Basaran, Seher, A. Engur, M Aytan, Birsen Karaman, Alexander Ghanem, G Toksoy, A Yuksel et al. "The results of cytogenetic analysis with regard to intracytoplasmic sperm injection in males, females and fetuses​." ​Fetal Diagnosis and Therapy ​19, no. 4 (2004): ​313​-318​. ​https://doi.org/10.1159/000077958.
    ​Details  DOI  PMID  PMC  WoS 
  • 2004 | Journal Article
    ​ ​Hering, R., K. A. Strauss, X. Tao, Axel Bauer, D Woitalla, E. M. Mietz, P Bauer et al. "Novel homozygous p.E64D mutation in DJ1 in early onset Parkinson disease (PARK7)​." ​Human Mutation ​24, no. 4 (2004): ​321​-329​. ​https://doi.org/10.1002/humu.20089.
    ​Details  DOI  PMID  PMC  WoS 
  • 2004 | Journal Article
    ​ ​Jeron, A., C. Hengstenberg, S Holmer, Bernd Wollnik, Guenter A. J. Riegger, Heribert Schunkert, and Jeanette Erdmann. "KCNJ11 polymorphisms and sudden cardiac death in patients with acute myocardial infarction​." ​Journal of Molecular and Cellular Cardiology ​36, no. 2 (2004): ​287​-293​. ​https://doi.org/10.1016/j.yjmcc.2003.11.009.
    ​Details  DOI  PMID  PMC  WoS 
  • 2003 | Journal Article
    ​ ​Özden, Serap, Füsun Düzcan, Bernd Wollnik, G. Ozan Çetin, Türker Sahiner, Ismet Bayramoglu, Memnune Yüksel Apak, and Hüseyin Bagci. "Progressive autosomal dominant optic atrophy and sensorineural hearing loss in a Turkish family​." ​Ophthalmic Genetics ​23, no. 1 (2003): ​29​-36​. ​https://doi.org/10.1076/opge.23.1.29.2208.
    ​Details  DOI 
  • 2003 | Journal Article | Research Paper
    ​ ​Paznekas, W. A., Simeon A. Boyadjiev, R. E. Shapiro, O. Daniels, Bernd Wollnik, C. E. Keegan, J. W. Innis et al. "Connexin 43 (GJA1) mutations cause the pleiotropic phenotype of oculodentodigital dysplasia​." ​American journal of human genetics ​72, no. 2 (2003): ​408​-418​. ​https://doi.org/10.1086/346090.
    ​Details  DOI  PMID  PMC  WoS 
  • 2003 | Journal Article | Research Paper
    ​ ​Karaman, Birsen, Bernd Wollnik, H Ermis, Memnune Yüksel Apak, and Seher Basaran. "A familial Xp+ chromosome detected during fetal karyotyping, which is associated with short stature in four generations of a Turkish family​." ​Prenatal Diagnosis ​23, no. 4 (2003): ​336​-339​. ​https://doi.org/10.1002/pd.592.
    ​Details  DOI  PMID  PMC  WoS 
  • 2003 | Journal Article | Research Paper
    ​ ​Tukel, T., Oya Uyguner, J. Q. Wei, Memnune Yüksel Apak, Nurçin Saka, D. X. Song, Hülya Kayserili et al. "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​." ​The Journal of Clinical Endocrinology & Metabolism ​88, no. 12 (2003): ​5893​-5897​. ​https://doi.org/10.1210/jc.2003-030813.
    ​Details  DOI  PMID  PMC  WoS 
  • 2003 | Journal Article | Research Paper
    ​ ​Uyguner, Oya, Melike Ulubil Emiroglu, Abdullah Uzumcu, G. Hafiz, Alexander Ghanem, Nermin Baserer, Memnune Yüksel Apak, and Bernd Wollnik. "Frequencies of gap- and tight-junction mutations in Turkish families with autosomal-recessive non-syndromic hearing loss​." ​Clinical Genetics ​64, no. 1 (2003): ​65​-69​. ​https://doi.org/10.1034/j.1399-0004.2003.00101.x.
    ​Details  DOI  PMID  PMC  WoS 
  • 2003 | Journal Article | Research Paper
    ​ ​Uyguner, Oya, E. G.de Jorge, A Cefle, T. Baykal, Hülya Kayserili, K Cefle, M. Demirkol, Memnune Yüksel Apak, SR de Cordoba, and Bernd Wollnik. "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​." ​Journal of Inherited Metabolic Disease ​26, no. 1 (2003): ​17​-23​. ​https://doi.org/10.1023/A:1024063126954.
    ​Details  DOI  PMID  PMC  WoS 
  • 2003 | Journal Article | Research Paper
    ​ ​Wollnik, Bernd, T. Tukel, Oya Uyguner, Alexander Ghanem, Hülya Kayserili, Melike Ulubil Emiroglu, and Memnune Yüksel Apak. "Homozygous and heterozygous inheritance of PAX3 mutations causes different types of Waardenburg syndrome​." ​American Journal of Medical Genetics ​122A, no. 1 (2003): ​42​-45​. ​https://doi.org/10.1002/ajmg.a.20260.
    ​Details  DOI  PMID  PMC  WoS 
  • 2002 | Journal Article | Research Paper
    ​ ​Utku, U., Y Celik, Oya Uyguner, Memnune Yüksel Apak, and Bernd Wollnik. "CADASIL syndrome in a large Turkish kindred caused by the R90C mutation in the Notch3 receptor​." ​European Journal of Neurology ​9, no. 1 (2002): ​23​-28​. ​https://doi.org/10.1046/j.1468-1331.2002.00344.x.
    ​Details  DOI  PMID  PMC  WoS 
  • 2002 | Journal Article | Research Paper
    ​ ​Wollnik, Bernd, Hülya Kayserili, Oya Uyguner, T. Tukel, and Memnune Yüksel Apak. "Haploinsufficiency of TBX3 causes ulnar-mammary syndrome in a large Turkish family​." ​Annales de Génétique ​45, no. 4 (2002): ​PII S0003-3995(02)01144-9​. ​https://doi.org/10.1016/S0003-3995(02)01144-9.
    ​Details  DOI  PMID  PMC  WoS 
  • 2002 | Journal Article | Research Paper
    ​ ​Boyadjiev, Simeon A., A. B. Chowdry, R. E. Shapiro, W. A. Paznekas, A. E. Wandstrat, J. W. Choi, L. Kasch et al. "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​." ​Cytogenetic and Genome Research ​98, no. 1 (2002): ​29​-37​. ​https://doi.org/10.1159/000068535.
    ​Details  DOI  PMID  PMC  WoS 
  • 2002 | Journal Article | Research Paper
    ​ ​Uyguner, Oya, T. Tukel, C. Baykal, H. Eris, Melike Ulubil Emiroglu, G. Hafiz, Alexander Ghanem, Nermin Baserer, Memnune Yüksel Apak, and Bernd Wollnik. "The novel R75Q mutation in the GJB2 gene causes autosomal dominant hearing loss and palmoplantar keratoderma in a Turkish family​." ​Clinical Genetics ​62, no. 4 (2002): ​306​-309​. ​https://doi.org/10.1034/j.1399-0004.2002.620409.x.
    ​Details  DOI  PMID  PMC  WoS 
  • 2002 | Journal Article | Research Paper
    ​ ​Scherer, C. R., C. Lerche, N. Decher, A. T. Dennis, P. Maier, E. Ficker, A. E. Busch, Bernd Wollnik, and K Steinmeyer. "The antihistamine fexofenadine does not affect I-Kr currents in a case report of drug-induced cardiac arrhythmia​." ​British Journal of Pharmacology ​137, no. 6 (2002): ​892​-900​. ​https://doi.org/10.1038/sj.bjp.0704873.
    ​Details  DOI  PMID  PMC  WoS 
  • 2001 | Journal Article | Research Paper
    ​ ​Decher, N., Oya Uyguner, C. R. Scherer, Birsen Karaman, Memnune Yüksel Apak, A. E. Busch, K Steinmeyer, and Bernd Wollnik. "HKChIP2 is a functional modifier of hKv4.3 potassium channels: Cloning and expression of a short hKChIP2 splice variant​." ​Cardiovascular Research ​52, no. 2 (2001): ​PII S0008-6363(01)00374-1​. ​https://doi.org/10.1016/S0008-6363(01)00374-1.
    ​Details  DOI  PMID  PMC  WoS 
  • 2001 | Journal Article | Research Paper
    ​ ​Erdmann, J., J. Raible, J Maki-Abadi, M. Hummel, J. Hammann, Bernd Wollnik, E Frantz, E. Fleck, R. Hetzer, and Vera Regitz-Zagrosek. "Spectrum of clinical phenotypes and gene variants in cardiac myosin-binding protein C mutation carriers with hypertrophic cardiomyopathy​." ​Journal of the American College of Cardiology ​38, no. 2 (2001): ​322​-330​. ​https://doi.org/10.1016/S0735-1097(01)01387-0.
    ​Details  DOI  PMID  PMC  WoS 
  • 2001 | Journal Article | Research Paper
    ​ ​Jakubiczka, S., T. Bettecken, Gottfried Koch, Beyhan Tuysuz, Bernd Wollnik, and P Wieacker. "Campomelic dysplasia without sex reversal in a Turkish patient is due to mutation Ala119Val within the SOX9 gene​." ​Clinical Dysmorphology ​10, no. 3 (2001): ​197​-201​. ​https://doi.org/10.1097/00019605-200107000-00009.
    ​Details  DOI  PMID  PMC  WoS 
  • 1998 | Journal Article
    ​ ​Pusch, Michael, Raffaella Magrassi, Bernd Wollnik, and Franco Conti. "Activation and Inactivation of Homomeric KvLQT1 Potassium Channels​." ​Biophysical Journal ​75, no. 2 (1998): ​785​-792​. ​https://doi.org/10.1016/s0006-3495(98)77568-x.
    ​Details  DOI 
  • 1997 | Journal Article | Research Paper
    ​ ​Wollnik, Bernd, Björn C. Schroeder, Christian Kubisch, Hans D. Esperer, Peter Wieacker, and Thomas J. Jentsch. "Pathophysiological mechanisms of dominant and recessive KVLQT1 K+ channel mutations found in inherited cardiac arrhythmias​." ​Human Molecular Genetics ​6, no. 11 (1997): ​1943​-1949​. ​https://doi.org/10.1093/hmg/6.11.1943.
    ​Details  DOI  PMID  PMC  WoS 
  • 1997 | Journal Article | Research Paper
    ​ ​Wollnik, Bernd, C. Kubisch, K Steinmeyer, and Michael Pusch. "Identification of functionally important regions of the muscular chloride channel CIC-1 by analysis of recessive and dominant myotonic mutations​." ​Human Molecular Genetics ​6, no. 5 (1997): ​805​-811​. ​https://doi.org/10.1093/hmg/6.5.805.
    ​Details  DOI  PMID  PMC  WoS 
  • 1995 | Journal Article
    ​ ​Maass, A., C. Grohe, C. Kubisch, Bernd Wollnik, H. Vetter, and L. Neyses. "Hormonal induction of an immediate-early gene response in myogenic cell lines--a paradigm for heart growth​." ​European Heart Journal ​16, no. suppl C (1995): ​12​-14​. ​https://doi.org/10.1093/eurheartj/16.suppl_C.12.
    ​Details  DOI 
  • 1994 | Journal Article | Research Paper
    ​ ​Wollnik, Bernd, and P. GUICHENEY. "CLINICAL AND GENETIC-ASPECTS OF THE LONG QT SYNDROME​." ​Herz ​19, no. 2 (1994): ​126​-132​. ​
    ​Details  PMID  PMC  WoS 
  • 1993 | Journal Article | Research Paper
    ​ ​Kubisch, Christian, Bernd Wollnik, Alexander Maass, Rainer Meyer, Hans Vetter, and Ludwig Neyses. "Immediate-early gene induction by repetitive mechanical but not electrical activity in adult rat cardiomyocytes​." ​FEBS Letters ​335, no. 1 (1993): ​37​-40​. ​https://doi.org/10.1016/0014-5793(93)80434-V.
    ​Details  DOI  PMID  PMC  WoS 
  • 1993 | Journal Article | Research Paper
    ​ ​Wollnik, Bernd, C. Kubisch, AH MAASS, H. Vetter, and L NEYSES. "HYPEROSMOTIC STRESS INDUCES IMMEDIATE-EARLY GENE-EXPRESSION IN VENTRICULAR ADULT CARDIOMYOCYTES​." ​Biochemical and Biophysical Research Communications ​194, no. 2 (1993): ​642​-646​. ​https://doi.org/10.1006/bbrc.1993.1869.
    ​Details  DOI  PMID  PMC  WoS 

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