Recurrence mutation in RBBP8 gene causing non-syndromic autosomal recessive primary microcephaly; geometric simulation approach for insight into predicted computational models
Batool, Tahira, Irshad, Saba, Riaz, Muhammad, Mahmood Baig, Shahid, Nuernberg, Peter, Hussain, Muhammad Sajid
Published in Journal of human genetics (01.07.2023)
Published in Journal of human genetics (01.07.2023)
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Recessive PIEZO2 stop mutation causes distal arthrogryposis with distal muscle weakness, scoliosis and proprioception defects
Haliloglu, Goknur, Becker, Kerstin, Temucin, Cagri, Talim, Beril, Küçükşahin, Nalan, Pergande, Matthias, Motameny, Susanne, Nürnberg, Peter, Aydingoz, Ustun, Topaloglu, Haluk, Cirak, Sebahattin
Published in Journal of human genetics (01.04.2017)
Published in Journal of human genetics (01.04.2017)
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A novel MAP3K20 mutation causing centronuclear myopathy-6 with fiber-type disproportion in a Pakistani family
Ahmad, Ilyas, Khan, Ayaz, Noor Ul Ayan, Hafiza, Budde, Birgit, Altmüller, Janine, Korejo, Asad Aslam, Nürnberg, Gudrun, Thiele, Holger, Tariq, Muhmmad, Nürnberg, Peter, Erdmann, Jeanette
Published in Journal of human genetics (01.02.2023)
Published in Journal of human genetics (01.02.2023)
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Single molecule real time sequencing in ADTKD-MUC1 allows complete assembly of the VNTR and exact positioning of causative mutations
Wenzel, Andrea, Altmueller, Janine, Ekici, Arif B., Popp, Bernt, Stueber, Kurt, Thiele, Holger, Pannes, Alois, Staubach, Simon, Salido, Eduardo, Nuernberg, Peter, Reinhardt, Richard, Reis, André, Rump, Patrick, Hanisch, Franz-Georg, Wolf, Matthias T. F., Wiesener, Michael, Huettel, Bruno, Beck, Bodo B.
Published in Scientific reports (08.03.2018)
Published in Scientific reports (08.03.2018)
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Homozygosity mapping and whole exome sequencing provide exact diagnosis of Cohen syndrome in a Saudi family
Hashmi, Jamil A., Fadhli, Fatima, Almatrafi, Ahmed, Afzal, Sibtain, Ramzan, Khushnooda, Thiele, Holger, Nürnberg, Peter, Basit, Sulman
Published in Brain & development (Tokyo. 1979) (01.09.2020)
Published in Brain & development (Tokyo. 1979) (01.09.2020)
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Expanding the phenotypic spectrum and clinical severity associated with WLS gene
Abdel-Salam, Ghada M H, Afifi, Hanan H, Abdel-Hamid, Mohamed S, Ahmed, Nermeen E B, Taher, Mohamed B, El-Kamah, Ghada, Thiele, Holger, Nürnberg, Peter N, Bolz, Hanno J
Published in Journal of human genetics (01.09.2023)
Published in Journal of human genetics (01.09.2023)
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Label-Free Protein-RNA Interactome Analysis Identifies Khsrp Signaling Downstream of the p38/Mk2 Kinase Complex as a Critical Modulator of Cell Cycle Progression
Boucas, Jorge, Fritz, Christian, Schmitt, Anna, Riabinska, Arina, Thelen, Lisa, Peifer, Martin, Leeser, Uschi, Nuernberg, Peter, Altmueller, Janine, Gaestel, Matthias, Dieterich, Christoph, Reinhardt, H Christian
Published in PloS one (20.05.2015)
Published in PloS one (20.05.2015)
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Novel mutations in KMT2B offer pathophysiological insights into childhood-onset progressive dystonia
Dafsari, Hormos Salimi, Sprute, Rosanne, Wunderlich, Gilbert, Daimagüler, Hülya-Sevcan, Karaca, Ezgi, Contreras, Adriana, Becker, Kerstin, Schulze-Rhonhof, Mira, Kiening, Karl, Karakulak, Tülay, Kloss, Manja, Horn, Annette, Pauls, Amande, Nürnberg, Peter, Altmüller, Janine, Thiele, Holger, Assmann, Birgit, Koy, Anne, Cirak, Sebahattin
Published in Journal of human genetics (01.08.2019)
Published in Journal of human genetics (01.08.2019)
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Remodeling of the endothelial cell transcriptional program via paracrine and DNA-binding activities of MPO
Zheng, Ruiyuan, Moynahan, Kyle, Georgomanolis, Theodoros, Pavlenko, Egor, Geissen, Simon, Mizi, Athanasia, Grimm, Simon, Nemade, Harshal, Rehimi, Rizwan, Bastigkeit, Jil, Lackmann, Jan-Wilm, Adam, Matti, Rada-Iglesias, Alvaro, Nuernberg, Peter, Klinke, Anna, Poepsel, Simon, Baldus, Stephan, Papantonis, Argyris, Kargapolova, Yulia
Published in iScience (16.02.2024)
Published in iScience (16.02.2024)
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HomozygosityMapper--an interactive approach to homozygosity mapping
Seelow, Dominik, Schuelke, Markus, Hildebrandt, Friedhelm, Nürnberg, Peter
Published in Nucleic acids research (01.07.2009)
Published in Nucleic acids research (01.07.2009)
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Chromothripsis followed by circular recombination drives oncogene amplification in human cancer
Rosswog, Carolina, Bartenhagen, Christoph, Welte, Anne, Kahlert, Yvonne, Hemstedt, Nadine, Lorenz, Witali, Cartolano, Maria, Ackermann, Sandra, Perner, Sven, Vogel, Wenzel, Altmüller, Janine, Nürnberg, Peter, Hertwig, Falk, Göhring, Gudrun, Lilienweiss, Esther, Stütz, Adrian M., Korbel, Jan O., Thomas, Roman K., Peifer, Martin, Fischer, Matthias
Published in Nature genetics (01.12.2021)
Published in Nature genetics (01.12.2021)
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Complement C3 Inhibitor Pegcetacoplan for Geographic Atrophy Secondary to Age-Related Macular Degeneration: A Randomized Phase 2 Trial
Liao, David S, Grossi, Federico V, El Mehdi, Delphine, Gerber, Monica R, Brown, David M, Heier, Jeffrey S, Wykoff, Charles C, Singerman, Lawrence J, Abraham, Prema, Grassmann, Felix, Nuernberg, Peter, Weber, Bernhard H F, Deschatelets, Pascal, Kim, Robert Y, Chung, Carol Y, Ribeiro, Ramiro M, Hamdani, Mohamed, Rosenfeld, Philip J, Boyer, David S, Slakter, Jason S, Francois, Cedric G
Published in Ophthalmology (Rochester, Minn.) (01.02.2020)
Published in Ophthalmology (Rochester, Minn.) (01.02.2020)
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Conference Proceeding
HMGB2 Loss upon Senescence Entry Disrupts Genomic Organization and Induces CTCF Clustering across Cell Types
Zirkel, Anne, Nikolic, Milos, Sofiadis, Konstantinos, Mallm, Jan-Philipp, Brackley, Chris A., Gothe, Henrike, Drechsel, Oliver, Becker, Christian, Altmüller, Janine, Josipovic, Natasa, Georgomanolis, Theodore, Brant, Lilija, Franzen, Julia, Koker, Mirjam, Gusmao, Eduardo G., Costa, Ivan G., Ullrich, Roland T., Wagner, Wolfgang, Roukos, Vassilis, Nürnberg, Peter, Marenduzzo, Davide, Rippe, Karsten, Papantonis, Argyris
Published in Molecular cell (17.05.2018)
Published in Molecular cell (17.05.2018)
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Thrombocytopenia is associated with a dysregulated host response in critically ill sepsis patients
Claushuis, Theodora A.M., van Vught, Lonneke A., Scicluna, Brendon P., Wiewel, Maryse A., Klein Klouwenberg, Peter M.C., Hoogendijk, Arie J., Ong, David S.Y., Cremer, Olaf L., Horn, Janneke, Franitza, Marek, Toliat, Mohammad R., Nürnberg, Peter, Zwinderman, Aeilko H., Bonten, Marc J., Schultz, Marcus J., van der Poll, Tom
Published in Blood (16.06.2016)
Published in Blood (16.06.2016)
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Neurocalcin Delta Suppression Protects against Spinal Muscular Atrophy in Humans and across Species by Restoring Impaired Endocytosis
Riessland, Markus, Kaczmarek, Anna, Schneider, Svenja, Swoboda, Kathryn J., Löhr, Heiko, Bradler, Cathleen, Grysko, Vanessa, Dimitriadi, Maria, Hosseinibarkooie, Seyyedmohsen, Torres-Benito, Laura, Peters, Miriam, Upadhyay, Aaradhita, Biglari, Nasim, Kröber, Sandra, Hölker, Irmgard, Garbes, Lutz, Gilissen, Christian, Hoischen, Alexander, Nürnberg, Gudrun, Nürnberg, Peter, Walter, Michael, Rigo, Frank, Bennett, C. Frank, Kye, Min Jeong, Hart, Anne C., Hammerschmidt, Matthias, Kloppenburg, Peter, Wirth, Brunhilde
Published in American journal of human genetics (02.02.2017)
Published in American journal of human genetics (02.02.2017)
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The mutational landscape of Burkitt-like lymphoma with 11q aberration is distinct from that of Burkitt lymphoma
Wagener, Rabea, Seufert, Julian, Raimondi, Francesco, Bens, Susanne, Kleinheinz, Kortine, Nagel, Inga, Altmüller, Janine, Thiele, Holger, Hübschmann, Daniel, Kohler, Christian W., Nürnberg, Peter, Au-Yeung, Rex, Burkhardt, Birgit, Horn, Heike, Leoncini, Lorenzo, Jaffe, Elaine S., Ott, German, Rymkiewicz, Grzegorz, Schlesner, Matthias, Russell, Robert B., Klapper, Wolfram, Siebert, Reiner
Published in Blood (28.02.2019)
Published in Blood (28.02.2019)
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Intronic CRISPR Repair in a Preclinical Model of Noonan Syndrome–Associated Cardiomyopathy
Hanses, Ulrich, Kleinsorge, Mandy, Roos, Lennart, Yigit, Gökhan, Li, Yun, Barbarics, Boris, El-Battrawy, Ibrahim, Lan, Huan, Tiburcy, Malte, Hindmarsh, Robin, Lenz, Christof, Salinas, Gabriela, Diecke, Sebastian, Müller, Christian, Adham, Ibrahim, Altmüller, Janine, Nürnberg, Peter, Paul, Thomas, Zimmermann, Wolfram-Hubertus, Hasenfuss, Gerd, Wollnik, Bernd, Cyganek, Lukas
Published in Circulation (New York, N.Y.) (15.09.2020)
Published in Circulation (New York, N.Y.) (15.09.2020)
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Germline Mutation Status, Pathological Complete Response, and Disease-Free Survival in Triple-Negative Breast Cancer: Secondary Analysis of the GeparSixto Randomized Clinical Trial
Hahnen, Eric, Lederer, Bianca, Hauke, Jan, Loibl, Sibylle, Kröber, Sandra, Schneeweiss, Andreas, Denkert, Carsten, Fasching, Peter A, Blohmer, Jens U, Jackisch, Christian, Paepke, Stefan, Gerber, Bernd, Kümmel, Sherko, Schem, Christian, Neidhardt, Guido, Huober, Jens, Rhiem, Kerstin, Costa, Serban, Altmüller, Janine, Hanusch, Claus, Thiele, Holger, Müller, Volkmar, Nürnberg, Peter, Karn, Thomas, Nekljudova, Valentina, Untch, Michael, von Minckwitz, Gunter, Schmutzler, Rita K
Published in JAMA oncology (01.10.2017)
Published in JAMA oncology (01.10.2017)
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