Search Results - Karl Hackmann

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  1. 1

    Validation of a hypomorphic variant in CDK13 as the cause of CHDFIDD with autosomal recessive inheritance through determination of an episignature by Jan Fischer, Mariëlle Alders, Marcel M. A. M. Mannens, David Genevieve, Karl Hackmann, Evelin Schröck, Bekim Sadikovic, Joseph Porrmann

    Published in Clinical Epigenetics (2025-01-01)
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  2. 2

    Highly significant antiviral activity of HIV-1 LTR-specific tre-recombinase in humanized mice. by Ilona Hauber, Helga Hofmann-Sieber, Jan Chemnitz, Danilo Dubrau, Janet Chusainow, Rolf Stucka, Philip Hartjen, Axel Schambach, Patrick Ziegler, Karl Hackmann, Evelin Schröck, Udo Schumacher, Christoph Lindner, Adam Grundhoff, Christopher Baum, Markus G Manz, Frank Buchholz, Joachim Hauber

    Published in PLoS Pathogens (2013-01-01)
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  3. 3

    Long-read genome and RNA sequencing resolve a pathogenic intronic germline LINE-1 insertion in APC by Alexandra A. Baumann, Lisanne I. Knol, Marie Arlt, Tim Hutschenreiter, Anja Richter, Thomas J. Widmann, Marcus Franke, Karl Hackmann, Sylke Winkler, Daniela Richter, Isabel Spier, Stefan Aretz, Daniela Aust, Joseph Porrmann, Doreen William, Evelin Schröck, Hanno Glimm, Arne Jahn

    Published in npj Genomic Medicine (2025-04-01)
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  4. 4

    Diagnostic value of partial exome sequencing in developmental disorders. by Laura Gieldon, Luisa Mackenroth, Anne-Karin Kahlert, Johannes R Lemke, Joseph Porrmann, Jens Schallner, Maja von der Hagen, Susanne Markus, Sabine Weidensee, Barbara Novotna, Charlotte Soerensen, Barbara Klink, Johannes Wagner, Andreas Tzschach, Arne Jahn, Franziska Kuhlee, Karl Hackmann, Evelin Schrock, Nataliya Di Donato, Andreas Rump

    Published in PLoS ONE (2018-01-01)
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  5. 5

    Isogenic FUS-eGFP iPSC Reporter Lines Enable Quantification of FUS Stress Granule Pathology that Is Rescued by Drugs Inducing Autophagy by Lara Marrone, Ina Poser, Ian Casci, Julia Japtok, Peter Reinhardt, Antje Janosch, Cordula Andree, Hyun O. Lee, Claudia Moebius, Ellen Koerner, Lydia Reinhardt, Maria Elena Cicardi, Karl Hackmann, Barbara Klink, Angelo Poletti, Simon Alberti, Marc Bickle, Andreas Hermann, Udai Bhan Pandey, Anthony A. Hyman, Jared L. Sterneckert

    Published in Stem Cell Reports (2018-02-01)
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  6. 6

    Identification and Functional Testing of ERCC2 Mutations in a Multi-national Cohort of Patients with Familial Breast- and Ovarian Cancer. by Andreas Rump, Anna Benet-Pages, Steffen Schubert, Jan Dominik Kuhlmann, Ramūnas Janavičius, Eva Macháčková, Lenka Foretová, Zdenek Kleibl, Filip Lhota, Petra Zemankova, Elitza Betcheva-Krajcir, Luisa Mackenroth, Karl Hackmann, Janin Lehmann, Anke Nissen, Nataliya DiDonato, Romy Opitz, Holger Thiele, Karin Kast, Pauline Wimberger, Elke Holinski-Feder, Steffen Emmert, Evelin Schröck, Barbara Klink

    Published in PLoS Genetics (2016-08-01)
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  7. 7

    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 by Suna Lahut, Suzana Gispert, Özgür Ömür, Candan Depboylu, Kay Seidel, Jorge Antolio Domínguez-Bautista, Nadine Brehm, Hülya Tireli, Karl Hackmann, Caroline Pirkevi, Barbara Leube, Vincent Ries, Kerstin Reim, Nils Brose, Wilfred F. den Dunnen, Madrid Johnson, Zsuzsanna Wolf, Marc Schindewolf, Wiebke Schrempf, Kathrin Reetz, Peter Young, David Vadasz, Achilleas S. Frangakis, Evelin Schröck, Helmuth Steinmetz, Marina Jendrach, Udo Rüb, Ayşe Nazlı Başak, Wolfgang Oertel, Georg Auburger

    Published in Disease Models & Mechanisms (2017-05-01)
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  8. 8

    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... by Jan Hauke, Judit Horvath, Eva Groß, Andrea Gehrig, Ellen Honisch, Karl Hackmann, Gunnar Schmidt, Norbert Arnold, Ulrike Faust, Christian Sutter, Julia Hentschel, Shan Wang‐Gohrke, Mateja Smogavec, Bernhard H. F. Weber, Nana Weber‐Lassalle, Konstantin Weber‐Lassalle, Julika Borde, Corinna Ernst, Janine Altmüller, Alexander E. Volk, Holger Thiele, Verena Hübbel, Peter Nürnberg, Katharina Keupp, Beatrix Versmold, Esther Pohl, Christian Kubisch, Sabine Grill, Victoria Paul, Natalie Herold, Nadine Lichey, Kerstin Rhiem, Nina Ditsch, Christian Ruckert, Barbara Wappenschmidt, Bernd Auber, Andreas Rump, Dieter Niederacher, Thomas Haaf, Juliane Ramser, Bernd Dworniczak, Christoph Engel, Alfons Meindl, Rita K. Schmutzler, Eric Hahnen

    Published in Cancer Medicine (2018-04-01)
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  9. 9

    Integrative analysis of genomic variants reveals new associations of candidate haploinsufficient genes with congenital heart disease. by Enrique Audain, Anna Wilsdon, Jeroen Breckpot, Jose M G Izarzugaza, Tomas W Fitzgerald, Anne-Karin Kahlert, Alejandro Sifrim, Florian Wünnemann, Yasset Perez-Riverol, Hashim Abdul-Khaliq, Mads Bak, Anne S Bassett, D Woodrow Benson, Felix Berger, Ingo Daehnert, Koenraad Devriendt, Sven Dittrich, Piers Ef Daubeney, Vidu Garg, Karl Hackmann, Kirstin Hoff, Philipp Hofmann, Gregor Dombrowsky, Thomas Pickardt, Ulrike Bauer, Bernard D Keavney, Sabine Klaassen, Hans-Heiner Kramer, Christian R Marshall, Dianna M Milewicz, Scott Lemaire, Joseph S Coselli, Michael E Mitchell, Aoy Tomita-Mitchell, Siddharth K Prakash, Karl Stamm, Alexandre F R Stewart, Candice K Silversides, Reiner Siebert, Brigitte Stiller, Jill A Rosenfeld, Inga Vater, Alex V Postma, Almuth Caliebe, J David Brook, Gregor Andelfinger, Matthew E Hurles, Bernard Thienpont, Lars Allan Larsen, Marc-Phillip Hitz

    Published in PLoS Genetics (2021-07-01)
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  10. 10

    Correction: Integrative analysis of genomic variants reveals new associations of candidate haploinsufficient genes with congenital heart disease. by Enrique Audain, Anna Wilsdon, Jeroen Breckpot, Jose M G Izarzugaza, Tomas W Fitzgerald, Anne-Karin Kahlert, Alejandro Sifrim, Florian Wünnemann, Yasset Perez-Riverol, Hashim Abdul-Khaliq, Mads Bak, Anne S Bassett, D Woodrow Benson, Felix Berger, Ingo Daehnert, Koenraad Devriendt, Sven Dittrich, Piers Ef Daubeney, Vidu Garg, Karl Hackmann, Kirstin Hoff, Philipp Hofmann, Gregor Dombrowsky, Thomas Pickardt, Ulrike Bauer, Bernard D Keavney, Sabine Klaassen, Hans-Heiner Kramer, Christian R Marshall, Dianna M Milewicz, Scott Lemaire, Joseph S Coselli, Michael E Mitchell, Aoy Tomita-Mitchell, Siddharth K Prakash, Karl Stamm, Alexandre F R Stewart, Candice K Silversides, Reiner Siebert, Brigitte Stiller, Jill A Rosenfeld, Inga Vater, Alex V Postma, Almuth Caliebe, J David Brook, Gregor Andelfinger, Matthew E Hurles, Bernard Thienpont, Lars Allan Larsen, Marc-Phillip Hitz

    Published in PLoS Genetics (2021-09-01)
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