New gain-of-function mutation shows CACNA1D as recurrently mutated gene in autism spectrum disorders and epilepsy

por Pinggera, Alexandra, Mackenroth, Luisa, Rump, Andreas, Schallner, Jens, Beleggia, Filippo, Wollnik, Bernd, Striessnig, Jörg
Publicado 2017

Surface water in Lower Saxony: A reservoir for multidrug-resistant Enterobacterales

por Cimen, Cansu, Noster, Janina, Stelzer, Yvonne, Rump, Andreas, Sattler, Janko, Berends, Matthijs, Voss, Andreas, Hamprecht, Axel
Publicado 2023

An unusual case of Cowden syndrome associated with ganglioneuromatous polyposis

por Pistorius, Steffen, Klink, Barbara, Pablik, Jessica, Rump, Andreas, Aust, Daniela, Garzarolli, Marlene, Schröck, Evelin, Schackert, Hans K.
Publicado 2016

The contribution of homology arms to nuclease-assisted genome engineering

por Baker, Oliver, Tsurkan, Sarah, Fu, Jun, Klink, Barbara, Rump, Andreas, Obst, Mandy, Kranz, Andrea, Schröck, Evelin, Anastassiadis, Konstantinos, Stewart, A. Francis
Publicado 2017

Case Report: ANXA2 Associated Life-Threatening Coagulopathy With Hyperfibrinolysis in a Patient With Non-APL Acute Myeloid Leukemia

por Ruhnke, Leo, Stölzel, Friedrich, Wagenführ, Lisa, Altmann, Heidi, Platzbecker, Uwe, Herold, Sylvia, Rump, Andreas, Schröck, Evelin, Bornhäuser, Martin, Schetelig, Johannes, von Bonin, Malte
Publicado 2021

Criteria of the German Consortium for Hereditary Breast and Ovarian Cancer for the Classification of Germline Sequence Variants in Risk Genes for Hereditary Breast and Ovarian Canc...

por Wappenschmidt, Barbara, Hauke, Jan, Faust, Ulrike, Niederacher, Dieter, Wiesmüller, Lisa, Schmidt, Gunnar, Groß, Evi, Gehrig, Andrea, Sutter, Christian, Ramser, Juliane, Rump, Andreas, Arnold, Norbert, Meindl, Alfons
Publicado 2020

Comprehensive molecular characterization of multifocal glioblastoma proves its monoclonal origin and reveals novel insights into clonal evolution and heterogeneity of glioblastomas

por Abou-El-Ardat, Khalil, Seifert, Michael, Becker, Kerstin, Eisenreich, Sophie, Lehmann, Matthias, Hackmann, Karl, Rump, Andreas, Meijer, Gerrit, Carvalho, Beatriz, Temme, Achim, Schackert, Gabriele, Schröck, Evelin, Krex, Dietmar, Klink, Barbara
Publicado 2017

Targeted capture-based NGS is superior to multiplex PCR-based NGS for hereditary BRCA1 and BRCA2 gene analysis in FFPE tumor samples

por Zakrzewski, Falk, Gieldon, Laura, Rump, Andreas, Seifert, Michael, Grützmann, Konrad, Krüger, Alexander, Loos, Sina, Zeugner, Silke, Hackmann, Karl, Porrmann, Joseph, Wagner, Johannes, Kast, Karin, Wimberger, Pauline, Baretton, Gustavo, Schröck, Evelin, Aust, Daniela, Klink, Barbara
Publicado 2019

Novel CIC Point Mutations and an Exon-Spanning, Homozygous Deletion Identified in Oligodendroglial Tumors by a Comprehensive Genomic Approach Including Transcriptome Sequencing

por Eisenreich, Sophie, Abou-El-Ardat, Khalil, Szafranski, Karol, Campos Valenzuela, Jaime A., Rump, Andreas, Nigro, Janice M., Bjerkvig, Rolf, Gerlach, Eva-Maria, Hackmann, Karl, Schröck, Evelin, Krex, Dietmar, Kaderali, Lars, Schackert, Gabriele, Platzer, Matthias, Klink, Barbara
Publicado 2013

Diagnostic value of partial exome sequencing in developmental disorders

por Gieldon, Laura, Mackenroth, Luisa, Kahlert, Anne-Karin, Lemke, Johannes R., Porrmann, Joseph, Schallner, Jens, von der Hagen, Maja, Markus, Susanne, Weidensee, Sabine, Novotna, Barbara, Soerensen, Charlotte, Klink, Barbara, Wagner, Johannes, Tzschach, Andreas, Jahn, Arne, Kuhlee, Franziska, Hackmann, Karl, Schrock, Evelin, Di Donato, Nataliya, Rump, Andreas
Publicado 2018

Correction: Diagnostic value of partial exome sequencing in developmental disorders

por Gieldon, Laura, Mackenroth, Luisa, Kahlert, Anne-Karin, Lemke, Johannes R., Porrmann, Joseph, Schallner, Jens, von der Hagen, Maja, Markus, Susanne, Weidensee, Sabine, Novotna, Barbara, Soerensen, Charlotte, Klink, Barbara, Wagner, Johannes, Tzschach, Andreas, Jahn, Arne, Kuhlee, Franziska, Hackmann, Karl, Schrock, Evelin, Di Donato, Nataliya, Rump, Andreas
Publicado 2020

Optimizing Genetic Workup in Pheochromocytoma and Paraganglioma by Integrating Diagnostic and Research Approaches

por Gieldon, Laura, William, Doreen, Hackmann, Karl, Jahn, Winnie, Jahn, Arne, Wagner, Johannes, Rump, Andreas, Bechmann, Nicole, Nölting, Svenja, Knösel, Thomas, Gudziol, Volker, Constantinescu, Georgiana, Masjkur, Jimmy, Beuschlein, Felix, Timmers, Henri JLM, Canu, Letizia, Pacak, Karel, Robledo, Mercedes, Aust, Daniela, Schröck, Evelin, Eisenhofer, Graeme, Richter, Susan, Klink, Barbara
Publicado 2019

Analysis of 17 genes detects mutations in 81% of 811 patients with lissencephaly

por Di Donato, Nataliya, Timms, Andrew E., Aldinger, Kimberly A., Mirzaa, Ghayda M., Bennett, James T., Collins, Sarah, Olds, Carissa, Mei, Davide, Chiari, Sara, Carvill, Gemma, Myers, Candace T., Rivière, Jean-Baptiste, Zaki, Maha S., Gleeson, Joseph G., Rump, Andreas, Conti, Valerio, Parrini, Elena, Ross, M. Elizabeth, Ledbetter, David H., Guerrini, Renzo, Dobyns, William B.
Publicado 2018

Polygenic risk scores indicate extreme ages at onset of breast cancer in female BRCA1/2 pathogenic variant carriers

por Borde, Julika, Laitman, Yael, Blümcke, Britta, Niederacher, Dieter, Weber-Lassalle, Konstantin, Sutter, Christian, Rump, Andreas, Arnold, Norbert, Wang-Gohrke, Shan, Horváth, Judit, Gehrig, Andrea, Schmidt, Gunnar, Dutrannoy, Véronique, Ramser, Juliane, Hentschel, Julia, Meindl, Alfons, Schroeder, Christopher, Wappenschmidt, Barbara, Engel, Christoph, Kuchenbaecker, Karoline, Schmutzler, Rita K., Friedman, Eitan, Hahnen, Eric, Ernst, Corinna
Publicado 2022

Identification and Functional Testing of ERCC2 Mutations in a Multi-national Cohort of Patients with Familial Breast- and Ovarian Cancer

por Rump, Andreas, Benet-Pages, Anna, Schubert, Steffen, Kuhlmann, Jan Dominik, Janavičius, Ramūnas, Macháčková, Eva, Foretová, Lenka, Kleibl, Zdenek, Lhota, Filip, Zemankova, Petra, Betcheva-Krajcir, Elitza, Mackenroth, Luisa, Hackmann, Karl, Lehmann, Janin, Nissen, Anke, DiDonato, Nataliya, Opitz, Romy, Thiele, Holger, Kast, Karin, Wimberger, Pauline, Holinski-Feder, Elke, Emmert, Steffen, Schröck, Evelin, Klink, Barbara
Publicado 2016

Prevalence of Cancer Predisposition Germline Variants in Male Breast Cancer Patients: Results of the German Consortium for Hereditary Breast and Ovarian Cancer

por Rolfes, Muriel, Borde, Julika, Möllenhoff, Kathrin, Kayali, Mohamad, Ernst, Corinna, Gehrig, Andrea, Sutter, Christian, Ramser, Juliane, Niederacher, Dieter, Horváth, Judit, Arnold, Norbert, Meindl, Alfons, Auber, Bernd, Rump, Andreas, Wang-Gohrke, Shan, Ritter, Julia, Hentschel, Julia, Thiele, Holger, Altmüller, Janine, Nürnberg, Peter, Rhiem, Kerstin, Engel, Christoph, Wappenschmidt, Barbara, Schmutzler, Rita K., Hahnen, Eric, Hauke, Jan
Publicado 2022

Variants in exons 5 and 6 of ACTB cause syndromic thrombocytopenia

por Latham, Sharissa L., Ehmke, Nadja, Reinke, Patrick Y. A., Taft, Manuel H., Eicke, Dorothee, Reindl, Theresia, Stenzel, Werner, Lyons, Michael J., Friez, Michael J., Lee, Jennifer A., Hecker, Ramona, Frühwald, Michael C., Becker, Kerstin, Neuhann, Teresa M., Horn, Denise, Schrock, Evelin, Niehaus, Indra, Sarnow, Katharina, Grützmann, Konrad, Gawehn, Luzie, Klink, Barbara, Rump, Andreas, Chaponnier, Christine, Figueiredo, Constanca, Knöfler, Ralf, Manstein, Dietmar J., Di Donato, Nataliya
Publicado 2018

Author Correction: Variants in exons 5 and 6 of ACTB cause syndromic thrombocytopenia

por Latham, Sharissa L., Ehmke, Nadja, Reinke, Patrick Y. A., Taft, Manuel H., Eicke, Dorothee, Reindl, Theresia, Stenzel, Werner, Lyons, Michael J., Friez, Michael J., Lee, Jennifer A., Hecker, Ramona, Frühwald, Michael C., Becker, Kerstin, Neuhann, Teresa M., Horn, Denise, Schrock, Evelin, Niehaus, Indra, Sarnow, Katharina, Grützmann, Konrad, Gawehn, Luzie, Klink, Barbara, Rump, Andreas, Chaponnier, Christine, Figueiredo, Constanca, Knöfler, Ralf, Manstein, Dietmar J., Di Donato, Nataliya
Publicado 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 Ca...

por Hauke, Jan, Horvath, Judit, Groß, Eva, Gehrig, Andrea, Honisch, Ellen, Hackmann, Karl, Schmidt, Gunnar, Arnold, Norbert, 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, Altmüller, Janine, Volk, Alexander E., Thiele, Holger, Hübbel, Verena, Nürnberg, Peter, Keupp, Katharina, Versmold, Beatrix, Pohl, Esther, Kubisch, Christian, Grill, Sabine, Paul, Victoria, Herold, Natalie, Lichey, Nadine, Rhiem, Kerstin, Ditsch, Nina, Ruckert, Christian, Wappenschmidt, Barbara, Auber, Bernd, Rump, Andreas, Niederacher, Dieter, Haaf, Thomas, Ramser, Juliane, Dworniczak, Bernd, Engel, Christoph, Meindl, Alfons, Schmutzler, Rita K., Hahnen, Eric
Publicado 2018

Cancer Risks Associated With BRCA1 and BRCA2 Pathogenic Variants

por Li, Shuai, Silvestri, Valentina, Leslie, Goska, Rebbeck, Timothy R., Neuhausen, Susan L., Hopper, John L., Nielsen, Henriette Roed, Lee, Andrew, Yang, Xin, McGuffog, Lesley, Parsons, Michael T., Andrulis, Irene L., Arnold, Norbert, Belotti, Muriel, Borg, Åke, Buecher, Bruno, Buys, Saundra S., Caputo, Sandrine M., Chung, Wendy K., Colas, Chrystelle, Colonna, Sarah V., Cook, Jackie, Daly, Mary B., de la Hoya, Miguel, de Pauw, Antoine, Delhomelle, Hélène, Eason, Jacqueline, Engel, Christoph, Evans, D. Gareth, Faust, Ulrike, Fehm, Tanja N., Fostira, Florentia, Fountzilas, George, Frone, Megan, Garcia-Barberan, Vanesa, Garre, Pilar, Gauthier-Villars, Marion, Gehrig, Andrea, Glendon, Gord, Goldgar, David E., Golmard, Lisa, Greene, Mark H., Hahnen, Eric, Hamann, Ute, Hanson, Helen, Hassan, Tiara, Hentschel, Julia, Horvath, Judit, Izatt, Louise, Janavicius, Ramunas, Jiao, Yue, John, Esther M., Karlan, Beth Y., Kim, Sung-Won, Konstantopoulou, Irene, Kwong, Ava, Laugé, Anthony, Lee, Jong Won, Lesueur, Fabienne, Mebirouk, Noura, Meindl, Alfons, Mouret-Fourme, Emmanuelle, Musgrave, Hannah, Ngeow Yuen Yie, Joanne, Niederacher, Dieter, Park, Sue K., Pedersen, Inge Sokilde, Ramser, Juliane, Ramus, Susan J., Rantala, Johanna, Rashid, Muhammad U., Reichl, Florian, Ritter, Julia, Rump, Andreas, Santamariña, Marta, Saule, Claire, Schmidt, Gunnar, Schmutzler, Rita K., Senter, Leigha, Shariff, Saba, Singer, Christian F., Southey, Melissa C., Stoppa-Lyonnet, Dominique, Sutter, Christian, Tan, Yen, Teo, Soo Hwang, Terry, Mary Beth, Thomassen, Mads, Tischkowitz, Marc, Toland, Amanda E., Torres, Diana, Vega, Ana, Wagner, Sebastian A., Wang-Gohrke, Shan, Wappenschmidt, Barbara, Weber, Bernhard H. F., Yannoukakos, Drakoulis, Spurdle, Amanda B., Easton, Douglas F., Chenevix-Trench, Georgia, Ottini, Laura, Antoniou, Antonis C.
Publicado 2022