BRIP1 loss-of-function mutations confer high risk for familial ovarian cancer, but not familial breast cancer
Weber-Lassalle, Nana, Hauke, Jan, Ramser, Juliane, Richters, Lisa, Groß, Eva, Blümcke, Britta, Gehrig, Andrea, Kahlert, Anne-Karin, Müller, Clemens R, Hackmann, Karl, Honisch, Ellen, Weber-Lassalle, Konstantin, Niederacher, Dieter, Borde, Julika, Thiele, Holger, Ernst, Corinna, Altmüller, Janine, Neidhardt, Guido, Nürnberg, Peter, Klaschik, Kristina, Schroeder, Christopher, Platzer, Konrad, Volk, Alexander E, Wang-Gohrke, Shan, Just, Walter, Auber, Bernd, Kubisch, Christian, Schmidt, Gunnar, Horvath, Judit, Wappenschmidt, Barbara, Engel, Christoph, Arnold, Norbert, Dworniczak, Bernd, Rhiem, Kerstin, Meindl, Alfons, Schmutzler, Rita K, Hahnen, Eric
Published in Breast cancer research : BCR (24.01.2018)
Published in Breast cancer research : BCR (24.01.2018)
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Diagnostic value of partial exome sequencing in developmental disorders
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
Published in PloS one (09.08.2018)
Published in PloS one (09.08.2018)
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Targeted capture-based NGS is superior to multiplex PCR-based NGS for hereditary BRCA1 and BRCA2 gene analysis in FFPE tumor samples
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
Published in BMC cancer (27.04.2019)
Published in BMC cancer (27.04.2019)
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Isogenic FUS-eGFP iPSC Reporter Lines Enable Quantification of FUS Stress Granule Pathology that Is Rescued by Drugs Inducing Autophagy
Marrone, Lara, Poser, Ina, Casci, Ian, Japtok, Julia, Reinhardt, Peter, Janosch, Antje, Andree, Cordula, Lee, Hyun O., Moebius, Claudia, Koerner, Ellen, Reinhardt, Lydia, Cicardi, Maria Elena, Hackmann, Karl, Klink, Barbara, Poletti, Angelo, Alberti, Simon, Bickle, Marc, Hermann, Andreas, Pandey, Udai Bhan, Hyman, Anthony A., Sterneckert, Jared L.
Published in Stem cell reports (13.02.2018)
Published in Stem cell reports (13.02.2018)
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Vitamin K antagonism impairs the bone marrow microenvironment and hematopoiesis
Verma, Divij, Kumar, Rahul, Pereira, Raquel S., Karantanou, Christina, Zanetti, Costanza, Minciacchi, Valentina R., Fulzele, Keertik, Kunz, Kathrin, Hoelper, Soraya, Zia-Chahabi, Sara, Jabagi, Marie-Joëlle, Emmerich, Joseph, Dray-Spira, Rosemary, Kuhlee, Franziska, Hackmann, Karl, Schroeck, Evelin, Wenzel, Philip, Müller, Stefan, Filmann, Natalie, Fontenay, Michaela, Pajevic, Paola Divieti, Krause, Daniela S.
Published in Blood (18.07.2019)
Published in Blood (18.07.2019)
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Mutations in the Glycosylphosphatidylinositol Gene PIGL Cause CHIME Syndrome
Ng, Bobby G., Hackmann, Karl, Jones, Melanie A., Eroshkin, Alexey M., He, Ping, Wiliams, Roy, Bhide, Shruti, Cantagrel, Vincent, Gleeson, Joseph G., Paller, Amy S., Schnur, Rhonda E., Tinschert, Sigrid, Zunich, Janice, Hegde, Madhuri R., Freeze, Hudson H.
Published in American journal of human genetics (06.04.2012)
Published in American journal of human genetics (06.04.2012)
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Journal Article
Missense Mutations in NKAP Cause a Disorder of Transcriptional Regulation Characterized by Marfanoid Habitus and Cognitive Impairment
Fiordaliso, Sarah K., Iwata-Otsubo, Aiko, Ritter, Alyssa L., Quesnel-Vallières, Mathieu, Fujiki, Katsunori, Nishi, Eriko, Hancarova, Miroslava, Miyake, Noriko, Morton, Jenny E.V., Lee, Sangmoon, Hackmann, Karl, Bando, Masashige, Masuda, Koji, Nakato, Ryuichiro, Arakawa, Michiko, Bhoj, Elizabeth, Li, Dong, Hakonarson, Hakon, Takeda, Ryojun, Harr, Margaret, Keena, Beth, Zackai, Elaine H., Okamoto, Nobuhiko, Mizuno, Seiji, Ko, Jung Min, Valachova, Alica, Prchalova, Darina, Vlckova, Marketa, Pippucci, Tommaso, Seiler, Christoph, Choi, Murim, Matsumoto, Naomichi, Di Donato, Nataliya, Barash, Yoseph, Sedlacek, Zdenek, Shirahige, Katsuhiko, Izumi, Kosuke
Published in American journal of human genetics (07.11.2019)
Published in American journal of human genetics (07.11.2019)
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Journal Article
Breast cancer patients suggestive of Li-Fraumeni syndrome: mutational spectrum, candidate genes, and unexplained heredity
Penkert, Judith, Schmidt, Gunnar, Hofmann, Winfried, Schubert, Stephanie, Schieck, Maximilian, Auber, Bernd, Ripperger, Tim, Hackmann, Karl, Sturm, Marc, Prokisch, Holger, Hille-Betz, Ursula, Mark, Dorothea, Illig, Thomas, Schlegelberger, Brigitte, Steinemann, Doris
Published in Breast cancer research : BCR (07.08.2018)
Published in Breast cancer research : BCR (07.08.2018)
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Journal Article
Correction: Diagnostic value of partial exome sequencing in developmental disorders
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
Published in PloS one (24.09.2020)
Published in PloS one (24.09.2020)
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Highly significant antiviral activity of HIV-1 LTR-specific tre-recombinase in humanized mice
Hauber, Ilona, Hofmann-Sieber, Helga, Chemnitz, Jan, Dubrau, Danilo, Chusainow, Janet, Stucka, Rolf, Hartjen, Philip, Schambach, Axel, Ziegler, Patrick, Hackmann, Karl, Schröck, Evelin, Schumacher, Udo, Lindner, Christoph, Grundhoff, Adam, Baum, Christopher, Manz, Markus G, Buchholz, Frank, Hauber, Joachim
Published in PLoS pathogens (01.09.2013)
Published in PLoS pathogens (01.09.2013)
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Identification and Functional Testing of ERCC2 Mutations in a Multi-national Cohort of Patients with Familial Breast- and Ovarian Cancer
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
Published in PLoS genetics (09.08.2016)
Published in PLoS genetics (09.08.2016)
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Essential role of cleavage of Polycystin-1 at G protein-coupled receptor proteolytic site for kidney tubular structure
Yu, Shengqiang, Hackmann, Karl, Gao, Jianggang, He, Xiaobing, Piontek, Klaus, García González, Miguel A, Menezes, Luis F, Xu, Hangxue, Germino, Gregory G, Zuo, Jian, Qian, Feng
Published in Proceedings of the National Academy of Sciences - PNAS (20.11.2007)
Published in Proceedings of the National Academy of Sciences - PNAS (20.11.2007)
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Expanding the clinical spectrum associated with defects in CNTNAP2 and NRXN1
Gregor, Anne, Albrecht, Beate, Bader, Ingrid, Bijlsma, Emilia K, Ekici, Arif B, Engels, Hartmut, Hackmann, Karl, Horn, Denise, Hoyer, Juliane, Klapecki, Jakub, Kohlhase, Jürgen, Maystadt, Isabelle, Nagl, Sandra, Prott, Eva, Tinschert, Sigrid, Ullmann, Reinhard, Wohlleber, Eva, Woods, Geoffrey, Reis, André, Rauch, Anita, Zweier, Christiane
Published in BMC medical genetics (09.08.2011)
Published in BMC medical genetics (09.08.2011)
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Journal Article
Update on the ACTG1-associated Baraitser-Winter cerebrofrontofacial syndrome
Di Donato, Nataliya, Kuechler, Alma, Vergano, Samantha, Heinritz, Wolfram, Bodurtha, Joann, Merchant, Sabiha R., Breningstall, Galen, Ladda, Roger, Sell, Susan, Altmüller, Janine, Bögershausen, Nina, Timms, Andrew E., Hackmann, Karl, Schrock, Evelin, Collins, Sarah, Olds, Carissa, Rump, Andreas, Dobyns, William B.
Published in American journal of medical genetics. Part A (01.10.2016)
Published in American journal of medical genetics. Part A (01.10.2016)
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Clonal evolution including partial loss of human leukocyte antigen genes favoring extramedullary acute myeloid leukemia relapse after matched related allogeneic hematopoietic stem cell transplantation
Stölzel, Friedrich, Hackmann, Karl, Kuithan, Friederike, Mohr, Brigitte, Füssel, Monika, Oelschlägel, Uta, Thiede, Christian, Röllig, Christoph, Platzbecker, Uwe, Schetelig, Johannes, Illmer, Thomas, Schaich, Markus, Seliger, Barbara, Hartmann, Arndt, Baretton, Gustavo, Zietz, Christian, Ehninger, Gerhard, Schrock, Evelin, Bornhäuser, Martin
Published in Transplantation (15.04.2012)
Published in Transplantation (15.04.2012)
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Blood RNA biomarkers in prodromal PARK4 and rapid eye movement sleep behavior disorder show role of complexin 1 loss for risk of Parkinson's disease
Lahut, Suna, Gispert, Suzana, Ömür, Özgür, Depboylu, Candan, Seidel, Kay, Domínguez-Bautista, Jorge Antolio, Brehm, Nadine, Tireli, Hülya, Hackmann, Karl, Pirkevi, Caroline, Leube, Barbara, Ries, Vincent, Reim, Kerstin, Brose, Nils, den Dunnen, Wilfred F, Johnson, Madrid, Wolf, Zsuzsanna, Schindewolf, Marc, Schrempf, Wiebke, Reetz, Kathrin, Young, Peter, Vadasz, David, Frangakis, Achilleas S, Schröck, Evelin, Steinmetz, Helmuth, Jendrach, Marina, Rüb, Udo, Başak, Ayşe Nazlı, Oertel, Wolfgang, Auburger, Georg
Published in Disease models & mechanisms (01.05.2017)
Published in Disease models & mechanisms (01.05.2017)
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Novel CIC point mutations and an exon-spanning, homozygous deletion identified in oligodendroglial tumors by a comprehensive genomic approach including transcriptome sequencing
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
Published in PloS one (27.09.2013)
Published in PloS one (27.09.2013)
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Tentative clinical diagnosis of Lujan-Fryns syndrome-A conglomeration of different genetic entities?
Hackmann, Karl, Rump, Andreas, Haas, Stefan A., Lemke, Johannes R., Fryns, Jean-Pierre, Tzschach, Andreas, Wieczorek, Dagmar, Albrecht, Beate, Kuechler, Alma, Ripperger, Tim, Kobelt, Albrecht, Oexle, Konrad, Tinschert, Sigrid, Schrock, Evelin, Kalscheuer, Vera M., Di Donato, Nataliya
Published in American journal of medical genetics. Part A (01.01.2016)
Published in American journal of medical genetics. Part A (01.01.2016)
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Isolation, Characterization, and Differentiation of Progenitor Cells from Human Adult Adrenal Medulla
Santana, Magda M., Chung, Kuei-Fang, Vukicevic, Vladimir, Rosmaninho-Salgado, Joana, Kanczkowski, Waldemar, Cortez, Vera, Hackmann, Karl, Bastos, Carlos A., Mota, Alfredo, Schrock, Evelin, Bornstein, Stefan R., Cavadas, Cláudia, Ehrhart-Bornstein, Monika
Published in Stem cells translational medicine (01.11.2012)
Published in Stem cells translational medicine (01.11.2012)
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