Universität zu Köln

Journal Article

Bebber, Christina M., Thomas, Emily S., Stroh, Jenny, Chen, Zhiyi, Androulidaki, Ariadne, Schmitt, Anna, Hoehne, Michaela N., Stueker, Lukas, Alves, Cleidson de Padua, Khonsari, Armin, Dammert, Marcel A., Parmaksiz, Fatma, Tumbrink, Hannah L., Beleggia, Filippo ORCID: 0000-0003-0234-7094, Sos, Martin L., Riemer, Jan, George, Julie, Brodesser, Susanne, Thomas, Roman K., Reinhardt, H. Christian and von Karstedt, Silvia (2021). Ferroptosis response segregates small cell lung cancer (SCLC) neuroendocrine subtypes. Nat. Commun., 12 (1). BERLIN: NATURE RESEARCH. ISSN 2041-1723

Boegershausen, Nina, Altunoglu, Umut ORCID: 0000-0002-3172-5368, Beleggia, Filippo ORCID: 0000-0003-0234-7094, Yigit, Goekhan, Kayserili, Huelya, Nuernberg, Peter, Li, Yun, Altmueller, Janine and Wollnik, Bernd (2016). An Unusual Presentation of Kabuki Syndrome with Orbital Cysts, Microphthalmia, and Cholestasis with Bile Duct Paucity. Am. J. Med. Genet. A, 170 (12). S. 3282 - 3289. HOBOKEN: WILEY. ISSN 1552-4833

Boegershausen, Nina, Tsai, I-Chun, Pohl, Esther, Kiper, Pelin Ozlem Simsek, Beleggia, Filippo ORCID: 0000-0003-0234-7094, Percin, E. Ferda, Keupp, Katharina, Matchan, Angela, Milz, Esther, Alanay, Yasemin ORCID: 0000-0003-0683-9731, Kayserili, Hulya ORCID: 0000-0003-0376-499X, Liu, Yicheng, Banka, Siddharth ORCID: 0000-0002-8527-2210, Kranz, Andrea, Zenker, Martin, Wieczorek, Dagmar ORCID: 0000-0003-2812-6492, Elcioglu, Nursel, Prontera, Paolo ORCID: 0000-0003-4960-9223, Lyonnet, Stanislas ORCID: 0000-0001-5426-9417, Meitinger, Thomas ORCID: 0000-0002-8838-8403, Stewart, A. Francis, Donnai, Dian, Strom, Tim M., Boduroglu, Koray ORCID: 0000-0001-6260-1942, Yigit, Goekhan, Li, Yun, Katsanis, Nicholas and Wollnik, Bernd (2015). RAP1-mediated MEK/ERK pathway defects in Kabuki syndrome. J. Clin. Invest., 125 (9). S. 3585 - 3600. ANN ARBOR: AMER SOC CLINICAL INVESTIGATION INC. ISSN 1558-8238

Bramswig, Nuria C., Luedecke, Hermann-Josef, Hamdan, Fadi F., Altmueller, Janine, Beleggia, Filippo ORCID: 0000-0003-0234-7094, Elcioglu, Nursel H., Freyer, Catharine, Gerkes, Erica H., Demirkol, Yasemin Kendir, Knupp, Kelly G., Kuechler, Alma, Li, Yun, Lowenstein, Daniel H., Michaud, Jacques L., Park, Kristen, Stegmann, Alexander P. A., Veenstra-Knol, Hermine E., Wieland, Thomas, Wollnik, Bernd, Engels, Hartmut, Strom, Tim M., Kleefstra, Tjitske and Wieczorek, Dagmar (2017). Heterozygous HNRNPU variants cause early onset epilepsy and severe intellectual disability. Hum. Genet., 136 (7). S. 821 - 835. NEW YORK: SPRINGER. ISSN 1432-1203

Doerr, Fabian, George, Julie, Schmitt, Anna, Beleggia, Filippo ORCID: 0000-0003-0234-7094, Rehkaemper, Tim, Hermann, Sarah, Walter, Vonn ORCID: 0000-0001-6114-6714, Weber, Jean-Philip, Thomas, Roman K., Wittersheim, Maike, Buettner, Reinhard, Persigehl, Thorsten and Reinhardt, H. Christian (2017). Targeting a non-oncogene addiction to the ATR/CHK1 axis for the treatment of small cell lung cancer. Sci Rep, 7. LONDON: NATURE PUBLISHING GROUP. ISSN 2045-2322

Erber, Johanna ORCID: 0000-0001-6614-6051, Steiner, Joachim D., Isensee, Joerg ORCID: 0000-0002-3390-0051, Lobbes, Leonard A., Toschka, Andre, Beleggia, Filippo ORCID: 0000-0003-0234-7094, Schmitt, Anna, Kaiser, Rainer W. J., Siedek, Florian, Persigehl, Thorsten, Hucho, Tim and Reinhardt, Hans C. (2019). Dual Inhibition of GLUT1 and the ATR/CHK1 Kinase Axis Displays Synergistic Cytotoxicity in KRAS-Mutant Cancer Cells. Cancer Res., 79 (19). S. 4855 - 4869. PHILADELPHIA: AMER ASSOC CANCER RESEARCH. ISSN 1538-7445

Garbes, Lutz, Kim, Kyungho, Riess, Angelika, Hoyer-Kuhn, Heike, Beleggia, Filippo ORCID: 0000-0003-0234-7094, Bevot, Andrea, Kim, Mi Jeong, Huh, Yang Hoon, Kweon, Hee-Seok, Savarirayan, Ravi, Amor, David, Kakadia, Purvi M., Lindig, Tobias, Kagan, Karl Oliver, Becker, Jutta, Boyadjiev, Simeon A., Wollnik, Bernd, Semler, Oliver ORCID: 0000-0003-0029-7556, Bohlander, Stefan K., Kim, Jinoh ORCID: 0000-0003-2841-147X and Netzer, Christian (2015). Mutations in SEC24D, Encoding a Component of the COPII Machinery, Cause a Syndromic Form of Osteogenesis Imperfecta. Am. J. Hum. Genet., 96 (3). S. 432 - 440. CAMBRIDGE: CELL PRESS. ISSN 1537-6605

Garbes, Lutz, Kim, Kyungho, Riess, Angelika, Hoyer-Kuhn, Heike, Beleggia, Filippo ORCID: 0000-0003-0234-7094, Bevot, Andrea, Kim, Mi Jeong, Huh, Yang Hoon, Kweon, Hee-Seok, Savarirayan, Ravi, Amor, David, Kakadia, Purvi M., Lindig, Tobias, Kagan, Karl Oliver, Becker, Jutta, Boyadjiev, Simeon A., Wollnik, Bernd, Semler, Oliver ORCID: 0000-0003-0029-7556, Bohlander, Stefan K., Kim, Jinoh ORCID: 0000-0003-2841-147X and Netzer, Christian (2015). Mutations in SEC24D, Encoding a Component of the COPII Machinery, Cause a Syndromic Form of Osteogenesis Imperfecta. Am. J. Hum. Genet., 96 (3). S. 432 - 440. CAMBRIDGE: CELL PRESS. ISSN 1537-6605

Hatzold, Julia ORCID: 0000-0002-5491-1921, Beleggia, Filippo ORCID: 0000-0003-0234-7094, Herzig, Hannah, Altmueller, Janine, Nuernberg, Peter, Bloch, Wilhelm, Wollnik, Bernd and Hammerschmidt, Matthias (2016). Tumor suppression in basal keratinocytes via dual non-cell-autonomous functions of a Na,K-ATPase beta subunit. eLife, 5. CAMBRIDGE: ELIFE SCIENCES PUBLICATIONS LTD. ISSN 2050-084X

Hussain, Muhammad Sajid ORCID: 0000-0002-1353-8809, Battaglia, Agatino ORCID: 0000-0002-7128-7606, Szczepanski, Sandra, Kaygusuz, Emrah, Toliat, Mohammad Reza, Sakakibara, Shin-ichi ORCID: 0000-0001-8983-2249, Altmueller, Janine, Thiele, Holger, Nuernberg, Gudrun, Moosa, Shahida ORCID: 0000-0002-4463-3067, Yigit, Goekhan, Beleggia, Filippo ORCID: 0000-0003-0234-7094, Tinschert, Sigrid, Clayton-Smith, Jill, Vasudevan, Pradeep, Urquhart, Jill E., Donnai, Dian, Fryer, Alan, Percin, Ferda ORCID: 0000-0001-9317-8155, Brancati, Francesco, Dobbie, Angus, Smigiel, Robert, Gillessen-Kaesbach, Gabriele, Wollnik, Bernd, Noegel, Angelika Anna, Newman, William G. and Nuernberg, Peter (2014). Mutations in CKAP2L, the Human Homo log of the Mouse Radmis Gene, Cause Filippi Syndrome. Am. J. Hum. Genet., 95 (5). S. 622 - 633. CAMBRIDGE: CELL PRESS. ISSN 1537-6605

Jachimowicz, Ron D., Beleggia, Filippo ORCID: 0000-0003-0234-7094, Isensee, Joerg ORCID: 0000-0002-3390-0051, Velpula, Bhagya Bhavana, Goergens, Jonas, Bustos, Matias A., Doll, Markus A., Shenoy, Anjana, Checa-Rodriguez, Cintia, Wiederstein, Janica Lea, Baranes-Bachar, Keren, Bartenhagen, Christoph, Hertwig, Falk ORCID: 0000-0003-4784-6516, Teper, Nizan, Nishi, Tomohiko, Schmitt, Anna, Distelmaier, Felix, Luedecke, Hermann-Josef, Albrecht, Beate, Krueger, Marcus ORCID: 0000-0003-2008-4582, Schumacher, Bjorn ORCID: 0000-0001-6097-5238, Geiger, Tamar, Hoon, Dave S. B., Huertas, Pablo ORCID: 0000-0002-1756-4449, Fischer, Matthias, Hucho, Tim, Peifer, Martin, Ziv, Yael, Reinhardt, H. Christian, Wieczorek, Dagmar and Shiloh, Yosef (2019). UBQLN4 Represses Homologous Recombination and Is Overexpressed in Aggressive Tumors. Cell, 176 (3). S. 505 - 542. CAMBRIDGE: CELL PRESS. ISSN 1097-4172

Knittel, Gero, Rehkaemper, Tim, Korovkina, Darya, Liedgens, Paul, Fritz, Christian, Torgovnick, Alessandro, Al-Baldawi, Yussor, Al-Maarri, Mona, Cun, Yupeng ORCID: 0000-0002-4241-8099, Fedorchenko, Oleg, Riabinska, Arina, Beleggia, Filippo ORCID: 0000-0003-0234-7094, Wunderlich, F. Thomas, Ortmann, Monika, Montesinos-Rongen, Manuel, Tausch, Eugen, Stilgenbauer, Stephan, Frenzel, Lukas P., Herling, Marco, Herling, Carmen, Bahlo, Jasmin, Hallek, Michael, Peifer, Martin ORCID: 0000-0002-5243-5503, Buettner, Reinhard, Persigehl, Thorsten and Reinhardt, H. Christian (2017). Two mouse models reveal an actionable PARP1 dependence in aggressive chronic lymphocytic leukemia. Nat. Commun., 8. LONDON: NATURE PUBLISHING GROUP. ISSN 2041-1723

Moosa, Shahida ORCID: 0000-0002-4463-3067, Boehrer-Rabel, Helena, Altmueller, Janine, Beleggia, Filippo ORCID: 0000-0003-0234-7094, Nuernberg, Peter, Li, Yun, Yigit, Goekhan and Wollnik, Bernd (2017). Smith-Kingsmore Syndrome: A Third Family with the MTOR Mutation C.5395G > A p.(Glu1799Lys) and Evidence for Paternal Gonadal Mosaicism. Am. J. Med. Genet. A, 173 (1). S. 264 - 268. HOBOKEN: WILEY. ISSN 1552-4833

Moosa, Shahida ORCID: 0000-0002-4463-3067, Yamamoto, Guilherme L., Garbes, Lutz, Keupp, Katharina, Beleza-Meireles, Ana, Moreno, Carolina Araujo, Valadares, Eugenia Ribeiro, de Sousa, Sergio B., Maia, Sofia, Saraiva, Jorge, Honjo, Rachel S., Kim, Chong Ae, de Menezes, Hamilton Cabral, Lausch, Ekkehart, Lorini, Pablo Villavicencio, Lamounier, Arsonval, Jr., Bezerra Carniero, Tulio Canella, Giunta, Cecilia ORCID: 0000-0002-9313-8257, Rohrbach, Marianne ORCID: 0000-0002-4013-6012, Janner, Marco, Semler, Oliver, Beleggia, Filippo ORCID: 0000-0003-0234-7094, Li, Yun, Yigit, Goekhan, Reintjes, Nadine, Altmueller, Janine, Nuernberg, Peter, Cavalcanti, Denise P., Zabel, Bernhard, Warman, Matthew L., Bertola, Debora R., Wollnik, Bernd and Netzer, Christian (2019). Autosomal-Recessive Mutations in MESD Cause Osteogenesis Imperfecta. Am. J. Hum. Genet., 105 (4). S. 836 - 844. CAMBRIDGE: CELL PRESS. ISSN 1537-6605

Paolacci, Stefano ORCID: 0000-0002-5551-7520, Li, Yun, Agolini, Emanuele ORCID: 0000-0001-6543-6225, Bellacchio, Emanuele ORCID: 0000-0002-2757-849X, Arboleda-Bustos, Carlos E., Carrero, Dido, Bertola, Debora, Al-Gazali, Lihadh, Alders, Mariel, Altmueller, Janine, Arboleda, Gonzalo, Beleggia, Filippo ORCID: 0000-0003-0234-7094, Bruselles, Alessandro ORCID: 0000-0002-1556-4998, Ciolfi, Andrea, Gillessen-Kaesbach, Gabriele, Krieg, Thomas, Mohammed, Shehla, Mueller, Christian, Noyelli, Antonio, Ortega, Jenny, Sandoval, Adrian, Velasco, Gloria, Yigit, Goekhan, Arboleda, Humberto, Lopez-Otin, Carlos ORCID: 0000-0001-6964-1904, Wollnik, Bernd, Tartaglia, Marco ORCID: 0000-0001-7736-9672 and Hennekam, Raoul C. (2018). Specific combinations of biallelic POLR3A variants cause Wiedemann-Rautenstrauch syndrome. J. Med. Genet., 55 (12). S. 837 - 846. LONDON: BMJ PUBLISHING GROUP. ISSN 1468-6244

Pinggera, Alexandra, Mackenroth, Luisa, Rump, Andreas, Schallner, Jens, Beleggia, Filippo ORCID: 0000-0003-0234-7094, Wollnik, Bernd and Striessnig, Joerg ORCID: 0000-0002-9406-7120 (2017). New gain-of-function mutation shows CACNA1D as recurrently mutated gene in autism spectrum disorders and epilepsy. Hum. Mol. Genet., 26 (15). S. 2923 - 2933. OXFORD: OXFORD UNIV PRESS. ISSN 1460-2083

Pohl, Esther, Aykut, Ayca, Beleggia, Filippo ORCID: 0000-0003-0234-7094, Karaca, Emin, Durmaz, Burak, Keupp, Katharina, Arslan, Esra, Onay, Melis Palamar, Yigit, Goekhan, Ozkinay, Ferda and Wollnik, Bernd (2013). A hypofunctional PAX1 mutation causes autosomal recessively inherited otofaciocervical syndrome. Hum. Genet., 132 (11). S. 1311 - 1321. NEW YORK: SPRINGER. ISSN 1432-1203

Pohl, Esther, Aykut, Ayca, Beleggia, Filippo, Karaca, Emin, Durmaz, Burak, Keupp, Katharina, Arslan, Esra, Palamar, Melis ORCID: 0000-0002-2494-0131, Yigit, Goekhan, Ozkinay, Ferda and Wollnik, Bernd (2013). A hypofunctional PAX1 mutation causes autosomal recessively inherited otofaciocervical syndrome (vol 132, pg 1311, 2013). Hum. Genet., 132 (11). S. 1321 - 1322. NEW YORK: SPRINGER. ISSN 1432-1203

Ragamin, Aviel, Yigit, Goekhan, Bousset, Kristine, Beleggia, Filippo, Verheijen, Frans W., de Wit, Marie-Claire Y., Strom, Tim M., Doerk, Thilo, Wollnik, Bernd and Mancini, Grazia M. S. (2020). Human RAD50 deficiency: Confirmation of a distinctive phenotype. Am. J. Med. Genet. A, 182 (6). S. 1378 - 1387. HOBOKEN: WILEY. ISSN 1552-4833

Riabinska, Arina, Lehrman, Daria, Jachimowicz, Ron Daniel, Knitter, Gero, Fritz, Christian, Schmitt, Anna, Geyer, Aenne, Heneweer, Carola, Wittersheim, Maike, Frenzel, Lukas P., Torgovnick, Alessandro, Wiederstein, Janica Lea, Wunderlich, Claudia Maria, Ortmann, Monika, Paillard, Arlette, Woessmann, Wilhelm, Borkhardt, Arndt, Burdach, Stefan, Hansmann, Martin-Leo, Rosenwald, Andreas, Perner, Sven, Mall, Gita, Klapper, Wolfram, Merseburg, Andrea, Krueger, Marcus ORCID: 0000-0003-2008-4582, Gruell, Holger, Persigehl, Thorsten, Wunderlich, Frank Thomas, Peifer, Martin, Utermoehlen, Olaf, Buettner, Reinhard, Beleggia, Filippo ORCID: 0000-0003-0234-7094 and Reinhardt, Hans Christian (2020). ATM activity in T cells is critical for immune surveillance of lymphoma in vivo. Leukemia, 34 (3). S. 771 - 787. LONDON: SPRINGERNATURE. ISSN 1476-5551

Rosin, Nadine, Elcioglu, Nursel H., Beleggia, Filippo ORCID: 0000-0003-0234-7094, Isguven, Pinar, Altmueller, Janine, Thiele, Holger, Steindl, Katharina, Joset, Pascal, Rauch, Anita ORCID: 0000-0003-2930-3163, Nuernberg, Peter, Wollnik, Bernd and Yigit, Goekhan (2015). Mutations in XRCC4 cause primary microcephaly, short stature and increased genomic instability. Hum. Mol. Genet., 24 (13). S. 3708 - 3718. OXFORD: OXFORD UNIV PRESS. ISSN 1460-2083

Schreml, Julia, Durmaz, Burak, Cogulu, Ozgur, Keupp, Katharina, Beleggia, Filippo ORCID: 0000-0003-0234-7094, Pohl, Esther, Milz, Esther, Coker, Mahmut, Ucar, Sema Kalkan ORCID: 0000-0001-9574-7841, Nuernberg, Gudrun, Nuernberg, Peter, Kuhn, Joachim and Ozkinay, Ferda (2014). The missing link: an autosomal recessive short stature syndrome caused by a hypofunctional XYLT1 mutation. Hum. Genet., 133 (1). S. 29 - 40. NEW YORK: SPRINGER. ISSN 1432-1203

Tekin, Burak ORCID: 0000-0002-2330-1215, Yucelten, Deniz ORCID: 0000-0002-4251-0581, Beleggia, Filippo ORCID: 0000-0003-0234-7094, Sarig, Ofer and Sprecher, Eli (2016). Papillon-Lefevre syndrome: report of six patients and identification of a novel mutation. Int. J. Dermatol., 55 (8). S. 898 - 903. HOBOKEN: WILEY-BLACKWELL. ISSN 1365-4632

Torgovnick, Alessandro, Heger, Jan Michel, Liaki, Vasiliki, Isensee, Joerg ORCID: 0000-0002-3390-0051, Schmitt, Anna, Knittel, Gero, Riabinska, Arina, Beleggia, Filippo ORCID: 0000-0003-0234-7094, Laurien, Lucie, Leeser, Uschi, Juengst, Christian, Siedek, Florian, Vogel, Wenzel, Kluemper, Niklas, Nolte, Hendrik, Wittersheim, Maike, Tharun, Lars, Castiglione, Roberta ORCID: 0000-0002-9828-4405, Krueger, Marcus, Schauss, Astrid, Perner, Sven, Pasparakis, Manolis ORCID: 0000-0002-9870-0966, Buettner, Reinhard, Persigehl, Thorsten, Hucho, Tim, Herter-Sprie, Grit Sophie, Schumacher, Bjoern and Reinhardt, Hans Christian (2018). The Cdkn1a(SuPER) Mouse as a Tool to Study p53-Mediated Tumor Suppression. Cell Reports, 25 (4). S. 1027 - 1046. CAMBRIDGE: CELL PRESS. ISSN 2211-1247

Wieczorek, Dagmar ORCID: 0000-0003-2812-6492, Boegershausen, Nina, Beleggia, Filippo ORCID: 0000-0003-0234-7094, Steiner-Haldenstaett, Sabine, Pohl, Esther, Li, Yun, Milz, Esther, Martin, Marcel ORCID: 0000-0002-0680-200X, Thiele, Holger, Altmueller, Janine, Alanay, Yasemin ORCID: 0000-0003-0683-9731, Kayserili, Hulya ORCID: 0000-0003-0376-499X, Klein-Hitpass, Ludger, Bohringer, Stefan, Wollstein, Andreas, Albrecht, Beate, Boduroglu, Koray ORCID: 0000-0001-6260-1942, Caliebe, Almuth ORCID: 0000-0003-2157-425X, Chrzanowska, Krystyna ORCID: 0000-0003-3888-0624, Cogulu, Ozgur, Cristofoli, Francesca, Czeschik, Johanna Christina ORCID: 0000-0002-9254-0084, Devriendt, Koenraad, Dotti, Maria Teresa, Elcioglu, Nursel, Gener, Blanca, Goecke, Timm O., Krajewska-Walasek, Malgorzata ORCID: 0000-0001-8721-210X, Guillen-Navarro, Encarnacion, Hayek, Joussef, Houge, Gunnar, Kilic, Esra, Simsek-Kiper, Pelin Ozlem, Lopez-Gonzalez, Vanesa, Kuechler, Alma, Lyonnet, Stanislas ORCID: 0000-0001-5426-9417, Mari, Francesca ORCID: 0000-0003-1992-1654, Marozza, Annabella, Dramard, Michele Mathieu, Mikat, Barbara, Morin, Gilles, Morice-Picard, Fanny, Ozkinay, Ferda, Rauch, Anita ORCID: 0000-0003-2930-3163, Renieri, Alessandra ORCID: 0000-0002-0846-9220, Tinschert, Sigrid, Utine, G. Eda, Vilain, Catheline, Vivarelli, Rossella, Zweier, Christiane ORCID: 0000-0001-8002-2020, Nuernberg, Peter, Rahmann, Sven, Vermeesch, Joris, Luedecke, Hermann-Josef, Zeschnigk, Michael and Wollnik, Bernd (2013). A comprehensive molecular study on Coffin-Siris and Nicolaides-Baraitser syndromes identifies a broad molecular and clinical spectrum converging on altered chromatin remodeling. Hum. Mol. Genet., 22 (25). S. 5121 - 5136. OXFORD: OXFORD UNIV PRESS. ISSN 1460-2083

Yigit, Goekhan, Wieczorek, Dagmar, Boegershausen, Nina, Beleggia, Filippo ORCID: 0000-0003-0234-7094, Moeller-Hartmann, Claudia, Altmueller, Janine, Thiele, Holger, Nuernberg, Peter and Wollnik, Bernd (2016). A Syndrome of Microcephaly, Short Stature, Polysyndactyly, and Dental Anomalies Caused by a Homozygous KATNB1 Mutation. Am. J. Med. Genet. A, 170 (3). S. 728 - 734. HOBOKEN: WILEY-BLACKWELL. ISSN 1552-4833

Thesis Abstract

Beleggia, Filippo (2015). Innovative strategies for gene identification and functional analysis of progeria syndromes. Thesis Abstract, Universität zu Köln.