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Journal Article
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
Engel, Christoph ORCID: 0000-0002-7247-282X, Wieland, Kerstin, Zachariae, Silke, Bucksch, Karolin, Enders, Ute, Schoenwiese, Ulrike, Yahiaoui-Doktor, Maryam, Keupp, Katharina, Waha, Anke, Hahnen, Eric, Remy, Robert, Ernst, Corinna, Loeffler, Markus and Schmutzler, Rita K.
(2021).
HerediCaRe: Documentation and IT Solution of a Specialized Registry for Hereditary Breast and Ovarian Cancer.
Gesundheitswesen, 83.
S. S12 - 6.
STUTTGART:
GEORG THIEME VERLAG KG.
ISSN 1439-4421
Hauke, Jan, Horvath, Judit, Gross, Eva, Gehrig, Andrea, Honisch, Ellen, Hackmann, Karl, Schmidt, Gunnar, Arnold, Norbert ORCID: 0000-0003-4523-8808, Faust, Ulrike, Sutter, Christian, Hentschel, Julia, Wang-Gohrke, Shan, Smogavec, Mateja, Weber, Bernhard H. F., Weber-Lassalle, Nana, Weber-Lassalle, Konstantin, Borde, Julika, Ernst, Corinna, Altmueller, Janine, Volk, Alexander E., Thiele, Holger, Huebbel, Verena, Nuernberg, Peter, Keupp, Katharina, Versmold, Beatrix, Pohl, Esther, Kubisch, Christian
ORCID: 0000-0003-4220-0978, Grill, Sabine, Paul, Victoria, Herold, Natalie, Lichey, Nadine, Rhiem, Kerstin, Ditsch, Nina, Ruckert, Christian
ORCID: 0000-0001-9915-1287, Wappenschmidt, Barbara, Auber, Bernd, Rump, Andreas, Niederacher, Dieter, Haaf, Thomas, Ramser, Juliane, Dworniczak, Bernd, Engel, Christoph
ORCID: 0000-0002-7247-282X, Meindl, Alfons, Schmutzler, Rita K. and Hahnen, Eric
(2018).
Gene panel testing of 5589 BRCA1/2-negative index patients with breast cancer in a routine diagnostic setting: results of the German Consortium for Hereditary Breast and Ovarian Cancer.
Cancer Med., 7 (4).
S. 1349 - 1359.
HOBOKEN:
WILEY.
ISSN 2045-7634
Herold, Natalie, Wappenschmidt, Barbara, Markiefka, Birgid, Keupp, Katharina, Kroeber, Sandra, Hahnen, Eric, Schmutzler, Rita and Rhiem, Kerstin (2018). Non-small cell neuroendocrine carcinoma of the ovary in a BRCA2-germline mutation carrier: A case report and brief review of the literature. Oncol. Lett., 15 (4). S. 4093 - 4097. ATHENS: SPANDIDOS PUBL LTD. ISSN 1792-1082
Keupp, Katharina, Hampp, Stephanie, Huebbel, Annette, Maringa, Monika, Kostezka, Sarah, Rhiem, Kerstin, Waha, Anke, Wappenschmidt, Barbara, Pujol, Roser, Surralles, Jordi, Schmutzler, Rita K., Wiesmueller, Lisa and Hahnen, Eric (2019). Biallelic germline BRCA1 mutations in a patient with early onset breast cancer, mild Fanconi anemia-like phenotype, and no chromosome fragility. Mol. Genet. Genom. Med., 7 (9). HOBOKEN: WILEY. ISSN 2324-9269
Li, Yun, Boegershausen, Nina, Alanay, Yasemin ORCID: 0000-0003-0683-9731, Kiper, Pelin Ozlem Simsek, Plume, Nadine, Keupp, Katharina, Pohl, Esther, Pawlik, Barbara, Rachwalski, Martin, Milz, Esther, Thoenes, Michaela, Albrecht, Beate, Prott, Eva-Christina, Lehmkuehler, Margret, Demuth, Stephanie, Utine, Gulen Eda, Boduroglu, Koray
ORCID: 0000-0001-6260-1942, Frankenbusch, Katja, Borck, Guntram, Gillessen-Kaesbach, Gabriele, Yigit, Gokhan, Wieczorek, Dagmar
ORCID: 0000-0003-2812-6492 and Wollnik, Bernd
(2011).
A mutation screen in patients with Kabuki syndrome.
Hum. Genet., 130 (6).
S. 715 - 725.
NEW YORK:
SPRINGER.
ISSN 0340-6717
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
Parsons, Michael T., Tudini, Emma, Li, Hongyan, Hahnen, Eric, Wappenschmidt, Barbara, Feliubadalo, Lidia ORCID: 0000-0002-1736-0112, Aalfs, Cora M., Agata, Simona, Aittomaki, Kristiina, Alducci, Elisa, Concepcion Alonso-Cerezo, Maria, Arnold, Norbert
ORCID: 0000-0003-4523-8808, Auber, Bernd, Austin, Rachel, Azzollini, Jacopo, Balmana, Judith
ORCID: 0000-0002-0762-6415, Barbieri, Elena, Bartram, Claus R., Blanco, Ana, Bluemcke, Britta, Bonache, Sandra, Bonanni, Bernardo, Borg, Ake, Bortesi, Beatrice, Brunet, Joan
ORCID: 0000-0003-1945-3512, Bruzzone, Carla, Bucksch, Karolin, Cagnoli, Giulia, Caldes, Trinidad, Caliebe, Almuth
ORCID: 0000-0003-2157-425X, Caligo, Maria A., Calvello, Mariarosaria, Capone, Gabriele L., Caputo, Sandrine M., Carnevali, Ileana, Carrasco, Estela, Caux-Moncoutier, Virginie, Cavalli, Pietro, Cini, Giulia
ORCID: 0000-0002-8696-8922, Clarke, Edward M., Concolino, Paola, Cops, Elisa J., Cortesi, Laura, Couch, Fergus J., Darder, Esther, de la Hoya, Miguel, Dean, Michael, Debatin, Irmgard, Del Valle, Jesus, Delnatte, Capucine, Derive, Nicolas, Diez, Orland, Ditsch, Nina, Domchek, Susan M., Dutrannoy, Veronique, Eccles, Diana M., Ehrencrona, Hans
ORCID: 0000-0002-5589-3622, Enders, Ute, Evans, D. Gareth, Farra, Chantal, Faust, Ulrike, Felbor, Ute, Feroce, Irene, Fine, Miriam, Foulkes, William D., Galvao, Henrique Cr, Gambino, Gaetana, Gehrig, Andrea, Gensini, Francesca, Gerdes, Anne-Marie, Germani, Aldo, Giesecke, Jutta, Gismondi, Viviana, Gomez, Carolina, Garcia, Encarna B. Gomez, Gonzalez, Sara, Grau, Elia, Grill, Sabine, Gross, Eva, Guerrieri-Gonzaga, Aliana, Guillaud-Bataille, Marine, Gutierrez-Enriquez, Sara, Haaf, Thomas, Hackmann, Karl, Hansen, Thomas Vo, Harris, Marion, Hauke, Jan, Heinrich, Tilman, Hellebrand, Heide, Herold, Karen N., Honisch, Ellen, Horvath, Judit, Houdayer, Claude, Huebbel, Verena, Iglesias, Silvia, Izquierdo, Angel, James, Paul A., Janssen, Linda Am, Jeschke, Udo, Kaulfuss, Silke, Keupp, Katharina, Kiechle, Marion, Koelbl, Alexandra, Krieger, Sophie, Kruse, Torben A., Kvist, Anders, Lalloo, Fiona, Larsen, Mirjam, Lattimore, Vanessa L., Lautrup, Charlotte, Ledig, Susanne, Leinert, Elena, Lewis, Alexandra L., Lim, Joanna, Loeffler, Markus, Lopez-Fernandez, Adria, Lucci-Cordisco, Emanuela, Maass, Nicolai, Manoukian, Siranoush, Marabelli, Monica, Matricardi, Laura
ORCID: 0000-0002-0241-1810, Meindl, Alfons, Michelli, Rodrigo D., Moghadasi, Setareh, Moles-Fernandez, Alejandro, Montagna, Marco, Montalban, Gemma, Monteiro, Alvaro N., Montes, Eva, Mori, Luigi, Moserle, Lidia, Mueller, Clemens R., Mundhenke, Christoph, Naldi, Nadia, Nathanson, Katherine L., Navarro, Matilde, Nevanlinna, Heli, Nichols, Cassandra B., Niederacher, Dieter, Nielsen, Henriette R., Ong, Kai-ren, Pachter, Nicholas, Palmero, Edenir, I, Papi, Laura, Pedersen, Inge Sokilde, Peissel, Bernard, Perez-Segura, Pedro, Pfeifer, Katharina, Pineda, Marta, Pohl-Rescigno, Esther, Poplawski, Nicola K., Porfirio, Berardino, Quante, Anne S., Ramser, Juliane, Reis, Rui M., Revillion, Francoise, Rhiem, Kerstin, Riboli, Barbara, Ritter, Julia, Rivera, Daniela
ORCID: 0000-0001-7515-3608, Rofes, Paula
ORCID: 0000-0001-6045-7879, Rump, Andreas, Salinas, Monica, Sanchez de Abajo, Ana Maria, Schmidt, Gunnar, Schoenwiese, Ulrike, Seggewiss, Jochen, Solanes, Ares, Steinemann, Doris, Stiller, Mathias, Stoppa-Lyonnet, Dominique, Sullivan, Kelly J., Susman, Rachel, Sutter, Christian, Tavtigian, Sean, V, Teo, Soo H., Teule, Alex, Thomassen, Mads, Tibiletti, Maria Grazia, Tischkowitz, Marc, Tognazzo, Silvia
ORCID: 0000-0002-6260-1261, Toland, Amanda E., Tornero, Eva, Torngren, Therese, Torres-Esquius, Sara
ORCID: 0000-0001-7540-7284, Toss, Angela, Trainer, Alison H., Tucker, Katherine M., van Asperen, Christi J., van Mackelenbergh, Marion T., Varesco, Liliana
ORCID: 0000-0003-4871-6668, Vargas-Parra, Gardenia, Varon, Raymonda, Vega, Ana, Velasco, Angela, Vesper, Anne-Sophie, Viel, Alessandra
ORCID: 0000-0003-2804-0840, Vreeswijk, Maaike P. G., Wagner, Sebastian A., Waha, Anke, Walker, Logan C., Walters, Rhiannon J., Wang-Gohrke, Shan, Weber, Bernhard H. F., Weichert, Wilko, Wieland, Kerstin, Wiesmueller, Lisa, Witzel, Isabell, Woeckel, Achim, Woodward, Emma R., Zachariae, Silke, Zampiga, Valentina, Zeder-Goss, Christine, Lazaro, Conxi, De Nicolo, Arcangela
ORCID: 0000-0002-7275-5571, Radice, Paolo
ORCID: 0000-0001-6298-4111, Engel, Christoph
ORCID: 0000-0002-7247-282X, Schmutzler, Rita K., Goldgar, David E. and Spurdle, Amanda B.
(2019).
Large scale multifactorial likelihood quantitative analysis of BRCA1 and BRCA2 variants: An ENIGMA resource to support clinical variant classification.
Hum. Mutat., 40 (9).
S. 1557 - 1579.
HOBOKEN:
WILEY.
ISSN 1098-1004
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
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
Thesis Abstract
Keupp, Katharina (2013). Novel insights into molecular mechanisms of inherited bone disorders. Thesis Abstract, Universität zu Köln.