Search Results - Andreas Rump

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  1. 1
    New gain-of-function mutation shows CACNA1D as recurrently mutated gene in autism spectrum disorders and epilepsy

    New gain-of-function mutation shows CACNA1D as recurrently mutated gene in autism spectrum disorders and epilepsy by Alexandra Pinggera, Luisa Mackenroth, Andreas Rump, Jens Schallner, Filippo Beleggia, Bernd Wollnik, Jörg Striessnig

    Published 2017
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  2. 2
    Identification of a Set of Seven Genes for the Monitoring of Minimal Residual Disease in Pediatric Acute Myeloid Leukemia

    Identification of a Set of Seven Genes for the Monitoring of Minimal Residual Disease in Pediatric Acute Myeloid Leukemia by Daniel Steinbach, Alexander Schramm, Angelika Eggert, Masanori Onda, K Dawczynski, Andreas Rump, Ira Pastan, Susann Wittig, Nadine Pfaffendorf, Astrid Voigt, F Zintl, Bernd Gruhn

    Published 2006
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  3. 3
    Severe forms of Baraitser–Winter syndrome are caused by ACTB mutations rather than ACTG1 mutations

    Severe forms of Baraitser–Winter syndrome are caused by ACTB mutations rather than ACTG1 mutations by Nataliya Di Donato, Andreas Rump, Rainer Koenig, Vazken M. Der Kaloustian, Fahed Halal, K. Sonntag, Crystal Krause, Karl Hackmann, Gabriele Hahn, Evelin Schröck, Alain Verloès

    Published 2013
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  4. 4
    A cis-regulatory site downregulates PTHLH in translocation t(8;12)(q13;p11.2) and leads to Brachydactyly Type E

    A cis-regulatory site downregulates PTHLH in translocation t(8;12)(q13;p11.2) and leads to Brachydactyly Type E by Philipp G. Maass, Jutta Wirth, Atakan Aydın, Andreas Rump, Sigmar Stricker, Sigrid Tinschert, Miguel Otero, Kaneyuki Tsuchimochi, Mary B. Goldring, Friedrich C. Luft, Sylvia Bähring

    Published 2009
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  5. 5
    A misplaced lncRNA causes brachydactyly in humans

    A misplaced lncRNA causes brachydactyly in humans by Philipp G. Maass, Andreas Rump, Herbert Schulz, Sigmar Stricker, Lisanne Schulze, Konrad Platzer, Atakan Aydın, Sigrid Tinschert, Mary B. Goldring, Friedrich C. Luft, Sylvia Bähring

    Published 2012
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  6. 6
    Comprehensive molecular characterization of multifocal glioblastoma proves its monoclonal origin and reveals novel insights into clonal evolution and heterogeneity of glioblastomas

    Comprehensive molecular characterization of multifocal glioblastoma proves its monoclonal origin and reveals novel insights into clonal evolution and heterogeneity of glioblastomas by Khalil Abou‐El‐Ardat, Michael Seifert, Kerstin Becker, Sophie Eisenreich, Matthias Lehmann, Karl Hackmann, Andreas Rump, Gerrit A. Meijer, Beatriz Carvalho, Achim Temme, Gabriele Schackert, Evelin Schröck, Dietmar Krex, Barbara Klink

    Published 2016
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  7. 7
    Diagnostic value of partial exome sequencing in developmental disorders

    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 Maximilian Wagner, Andreas Tzschach, Arne Jahn, Franziska Kuhlee, Karl Hackmann, Evelin Schröck, Nataliya Di Donato, Andreas Rump

    Published 2018
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  8. 8
    Analysis of 17 genes detects mutations in 81% of 811 patients with lissencephaly

    Analysis of 17 genes detects mutations in 81% of 811 patients with lissencephaly by Nataliya Di Donato, Andrew E. Timms, Kimberly A. Aldinger, Ghayda Mirzaa, James T. Bennett, Sarah Collins, Carissa Olds, Davide Mei, Sara Chiari, Gemma L. Carvill, Candace T. Myers, Jean‐Baptiste Rivière, Maha S. Zaki, Joseph G. Gleeson, Andreas Rump, Valerio Conti, Elena Parrini, M. Elizabeth Ross, David H. Ledbetter, Renzo Guerrini, William B. Dobyns

    Published 2018
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  9. 9
    Variants in exons 5 and 6 of ACTB cause syndromic thrombocytopenia

    Variants in exons 5 and 6 of ACTB cause syndromic thrombocytopenia by Sharissa L. Latham, Nadja Ehmke, P. Reinke, Manuel H. Taft, Dorothee Eicke, Theresia Reindl, Werner Stenzel, Michael J. Lyons, Michael J. Friez, Jennifer A. Lee, Ramona Hecker, Michael C. Frühwald, Kerstin Becker, Teresa Neuhann, Denise Horn, Evelin Schröck, Indra Niehaus, Katharina Sarnow, Konrad Grützmann, Luzie Gawehn, Barbara Klink, Andreas Rump, Christine Chaponnier, Constança Figueiredo, Ralf Knöfler, Dietmar J. Manstein, Nataliya Di Donato

    Published 2018
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  10. 10
    Gene panel testing of 5589 <i><scp>BRCA</scp>1/2</i>‐negative index patients with breast cancer in a routine diagnostic setting: results of the German Consortium for Hereditary Breast and Ovarian Cancer

    Gene panel testing of 5589 <i><scp>BRCA</scp>1/2</i>‐negative index patients with breast cancer in a routine diagnostic setting: results of the German Consortium for Hereditary Bre... by Jan Hauke, Judit Horváth, 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, Hölger Thiele, Verena Hübbel, Peter Nürnberg, Katharina Keupp, Beatrix Versmold, Esther Pohl, Christian Kubisch, Sabine Grill, Victoria Paul, N Herold, Nadine Lichey, Kerstin Rhiem, Nina Ditsch, Christian Rückert, Barbara Wappenschmidt, Bernd Auber, Andreas Rump, Dieter Niederacher, Thomas Haaf, Juliane Ramser, Bernd Dworniczak, Christoph Engel, Alfons Meindl, Rita K. Schmutzler, Eric Hahnen

    Published 2018
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  11. 11
    Comprehensive Genomic and Transcriptomic Analysis for Guiding Therapeutic Decisions in Patients with Rare Cancers

    Comprehensive Genomic and Transcriptomic Analysis for Guiding Therapeutic Decisions in Patients with Rare Cancers by Peter Horak, Christoph Heining, Simon Kreutzfeldt, Barbara Hutter, Andreas Möck, Jennifer Hüllein, Martina Fröhlich, Sebastian Uhrig, Arne Jahn, Andreas Rump, Laura Gieldon, Lino Möhrmann, Dorothea Hanf, Veronica Teleanu, Christoph E. Heilig, Daniel B. Lipka, Michael Allgäuer, Leo Ruhnke, Andreas Laßmann, Volker Endris, Olaf Neumann, Roland Penzel, Katja Beck, Daniela Richter, Ulrike Winter, Stephan Wolf, Katrin Pfütze, Christina Geörg, Bettina Meißburger, Ivo Buchhalter, Marinela Augustin, Walter E. Aulitzky, Peter Hohenberger, Matthias Kroiß, Peter Schirmacher, Richard F. Schlenk, Ulrich Keilholz, Frederick Klauschen, Gunnar Folprecht, Sebastian Bauer, Jens T. Siveke, Christian Brandts, Thomas Kindler, Melanie Boerries, Anna Lena Illert, Nikolas von Bubnoff, Philipp J. Jost, Karsten Spiekermann, Michael Bitzer, Klaus Schulze‐Osthoff, Christof von Kalle, Barbara Klink, Benedikt Brors, Albrecht Stenzinger, Evelin Schröck, Daniel Hübschmann, Wilko Weichert, Hanno Glimm, Stefan Fröhling

    Published 2021
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  12. 12
    Baraitser–Winter cerebrofrontofacial syndrome: delineation of the spectrum in 42 cases

    Baraitser–Winter cerebrofrontofacial syndrome: delineation of the spectrum in 42 cases by Alain Verloès, Nataliya Di Donato, Julien Masliah‐Planchon, Marjolijn C.J. Jongmans, Omar A Abdul-Raman, Beate Albrecht, Judith Allanson, Han G. Brunner, Débora Romeo Bertola, Nicolas Chassaing, Albert David, Koenraad Devriendt, Pirayeh Eftekhari, Valérie Drouin‐Garraud, Francesca Faravelli, Laurence Faivre, Fabienne Giuliano, Leina Guion Almeida, Jorge L. Juncos, Marlies Kempers, Hatice Koçak Eker, Didier Lacombe, Angela E. Lin, Grazia M.S. Mancini, Daniela Melis, Charles Marques Lourenço, Victoria Mok Siu, G Morin, Marjan M. Nezarati, Małgorzata J.M. Nowaczyk, Jeanette C. Ramer, Sara Osimani, Nicole Philip, Mary Ella Pierpont, Vincent Procaccio, Zeichi-Seide Roseli, Massimiliano Rossi, Cristina Rusu, Yves Sznajer, Ludivine Templin, Vera Uliana, Mirjam Klaus, Bregje W.M. van Bon, Conny van Ravenswaaij, Bruce H. Wainer, Andrew E. Fry, Andreas Rump, Alexander Hoischen, Séverine Drunat, Jean‐Baptiste Rivière, William B. Dobyns, Daniela T. Pilz

    Published 2014
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  13. 13
    The DNA sequence of human chromosome 21

    The DNA sequence of human chromosome 21 by Masahira Hattori, Asao Fujiyama, Todd D. Taylor, Hitoshi Watanabe, Tetsushi Yada, H.-S. Park, Atsushi Toyoda, Kazuo Ishii, Yasushi Totoki, Dong‐Kug Choi, E Soeda, Masafumi Ohki, Toshiyuki Takagi, Yoshiyuki Sakaki, Stefan Taudien, Karin Blechschmidt, Andreas Polley, Uwe Menzel, J.M. Delabar, Kai Kumpf, R. Lehmann, David Patterson, Kathrin Reichwald, Andreas Rump, M. Schillhabel, Andreas Schudy, Wolfgang Zimmermann, André Rosenthal, Jun Kudoh, Kazunori Shibuya, Kazuhiko Kawasaki, Shuichi Asakawa, Ai Shintani, Takashi Sasaki, Kentaro Nagamine, Susumu Mitsuyama, Stylianos E. Antonarakis, Satoshi Minoshima, Nobutaka Shimizu, Gabriele Nordsiek, Klaus Hornischer, P. Brandt, Maren Scharfe, Oliver Schön, Albertina De Sario, Julia Reichelt, Gerhard Kauer, Helmut Blöcker, Juliane Ramser, Amy Beck, Sven Klages, Steffen Hennig, L. Rießelmann, Emilie Dagand, Thomas Haaf, S. Wehrmeyer, Katja Borzym, Katheleen Gardiner, Dean Nižetić, Fiona Francis, Hans Lehrach, Richard Reinhardt, Marie‐Laure Yaspo

    Published 2000
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  14. 14
    Comprehensive cancer predisposition testing within the prospective MASTER trial identifies hereditary cancer patients and supports treatment decisions for rare cancers

    Comprehensive cancer predisposition testing within the prospective MASTER trial identifies hereditary cancer patients and supports treatment decisions for rare cancers by Arne Jahn, Andreas Rump, Thomas J. Widmann, Christoph Heining, Peter Horak, Barbara Hutter, Nagarajan Paramasivam, Sebastian Uhrig, Laura Gieldon, S. Drukewitz, A. Kübler, Marion Bermudez, Karl Hackmann, Joseph Porrmann, Johannes Maximilian Wagner, M. Arlt, Martin Franke, Jan A. Fischer, Zarah Kowalzyk, Doreen William, V. Weth, S. Oster, Martina Fröhlich, Jennifer Hüllein, Corina Gonzalez, Simon Kreutzfeldt, Andreas Möck, Christoph E. Heilig, Daniel B. Lipka, Lino Möhrmann, Dorothea Hanf, Małgorzata Oleś, Veronica Teleanu, Michael Allgäuer, Leo Ruhnke, Oliver Kutz, Alexander Knurr, Andreas Laßmann, Volker Endris, Olaf Neumann, Roland Penzel, Kristina Beck, Daniela Richter, Ulrike Winter, Stephan Wolf, Katrin Pfütze, Christina Geörg, Bettina Meißburger, Ivo Buchhalter, Marinela Augustin, Walter E. Aulitzky, Peter Hohenberger, Matthias Kroiß, Peter Schirmacher, Richard F. Schlenk, Ulrich Keilholz, Frederick Klauschen, Gunnar Folprecht, Sebastian Bauer, Jens T. Siveke, Christian Brandts, Thomas Kindler, Melanie Boerries, Anna Lena Illert, Nikolas von Bubnoff, Philipp J. Jost, Klaus H. Metzeler, Michael Bitzer, Klaus Schulze‐Osthoff, Christof von Kalle, Benedikt Brors, Albrecht Stenzinger, Wilko Weichert, Daniel Hübschmann, Stefan Fröhling, Hanno Glimm, Evelin Schröck, Barbara Klink

    Published 2022
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  15. 15
    Mutations in DDX3X Are a Common Cause of Unexplained Intellectual Disability with Gender-Specific Effects on Wnt Signaling

    Mutations in DDX3X Are a Common Cause of Unexplained Intellectual Disability with Gender-Specific Effects on Wnt Signaling by Lot Snijders Blok, Erik Madsen, Jane Juusola, Christian Gilissen, Diana Baralle, Margot R.F. Reijnders, Hanka Venselaar, Céline Helsmoortel, Megan T. Cho, Alexander Hoischen, Lisenka E.L.M. Vissers, Tom S. Koemans, W.M. Wissink-Lindhout, Evan E. Eichler, Corrado Romano, Hilde Van Esch, Connie T. R. M. Stumpel, Maaike Vreeburg, Eric Smeets, Karin Oberndorff, Bregje W.M. van Bon, Marie Shaw, Jozef Gécz, Eric Haan, Melanie Bienek, Corinna Jensen, Bart Loeys, Anke Van Dijck, A. Micheil Innes, Hilary Racher, Sascha Vermeer, Nataliya Di Donato, Andreas Rump, Katrina Tatton‐Brown, Michael Parker, Alex Henderson, Sally Ann Lynch, Alan Fryer, Alison Ross, Pradeep Vasudevan, Usha Kini, Ruth Newbury‐Ecob, Kate Chandler, Alison Male, Sybe Dijkstra, Jolanda Schieving, Jacques C. Giltay, Koen L.I. van Gassen, Janneke Schuurs-Hoeijmakers, Perciliz L. Tan, Igor Pediaditakis, Stefan A. Haas, Kyle Retterer, Patrick Reed, Kristin G. Monaghan, Eden Haverfield, Marvin R. Natowicz, Angela Myers, Michael C. Kruer, Quinn Stein, Kevin A. Strauss, Karlla W. Brigatti, Katherine E. Keating, Barbara K. Burton, Katherine H. Kim, Joel Charrow, Jennifer Norman, Audrey Foster‐Barber, Antonie D. Kline, Amy Kimball, Elaine H. Zackai, Margaret Harr, Joyce E. Fox, Julie McLaughlin, Kristin Lindstrom, Katrina Haude, Kees van Roozendaal, Han G. Brunner, Wendy K. Chung, R. Frank Kooy, Rolph Pfundt, Vera M. Kalscheuer, Sarju Mehta, Nicholas Katsanis, Tjitske Kleefstra

    Published 2015
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  16. 16
    Solving patients with rare diseases through programmatic reanalysis of genome-phenome data

    Solving patients with rare diseases through programmatic reanalysis of genome-phenome data by Leslie Matalonga, Carles Hernández-Ferrer, Davide Piscia, Enzo Cohen, Isabel Cuesta, Daniel Danis, Anne‐Sophie Denommé‐Pichon, Yannis Duffourd, Christian Gilissen, Mridul Johari, Steven Laurie, Shuang Li, Leslie Matalonga, Isabelle Nelson, Sophia Peters, Ida Paramonov, Prasanth Sivakumar, Peter N. Robinson, Karolis Sablauskas, Marco Savarese, Wouter Steyaert, Joeri K. van der Velde, Antonio Vitobello, Rebecca Schüle, Matthis Synofzik, Ana Töpf, Lisenka E.L.M. Vissers, Richarda de Voer, Stefan Aretz, Gabriel Capellà, Richarda M. de Voer, D. Gareth Evans, José Garcia‐Pelaez, Elke Holinski‐Feder, Nicoline Hoogerbrugge, Andreas Laner, Carla Oliveíra, Andreas Rump, Evelin Schröck, Anna Katharina Sommer, Verena Steinke‐Lange, Iris te Paske, Marc Tischkowitz, Laura Valle, Siddharth Banka, Elisa Benetti, Giorgio Casari, Andrea Ciolfi, Jill Clayton‐Smith, Bruno Dallapiccola, Elke de Boer, Anne‐Sophie Denommé‐Pichon, Kornelia Ellwanger, Laurence Faivre, Holm Graessner, Tobias B. Haack, Anna Hammarsjö, Markéta Havlovičová, Alexander Hoischen, Anne Hugon, Adam Jackson, Tjitske Kleefstra, Anna Lindstrand, Estrella López‐Martín, Milan Macek, Manuela Morleo, Vicenzo Nigro, Ann Nordgren, Maria Pettersson, Annalaura Torella, Simone Pizzi, Manuel Posada, Francesca Clementina Radio, Alessandra Renieri, Caroline Rooryck, Lukáš Ryba, Martin Schwarz, Marco Tartaglia, Christel Thauvin, Annalaura Torella, Aurélien Trimouille, Alain Verloès, Lisenka E.L.M. Vissers, Antonio Vitobello, Pavel Votýpka, Klea Vyshka, Birte Zurek, Jonathan Baets, Danique Beijer, Gisèle Bonne, Enzo Cohen, Judith Cossins, Teresinha Evangelista, Alessandra Ferlini, Peter Hackman, Michael G. Hanna, Rita Horváth, Henry Houlden, Mridul Johari, Jarred Lau

    Published 2021
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  17. 17
    Cancer Risks Associated With <i>BRCA1</i> and <i>BRCA2</i> Pathogenic Variants

    Cancer Risks Associated With <i>BRCA1</i> and <i>BRCA2</i> Pathogenic Variants by Shuai Li, Valentina Silvestri, Goska Leslie, Timothy R. Rebbeck, Susan L. Neuhausen, John L. Hopper, Henriette Roed Nielsen, Andrew Lee, Xin Yang, Lesley McGuffog, Michael T. Parsons, Irene L. Andrulis, Norbert Arnold, Muriel Belotti, Åke Borg, Bruno Buecher, Saundra S. Buys, Sandrine M. Caputo, Wendy K. Chung, Chrystelle Colas, Sarah V. Colonna, Jackie Cook, Mary B. Daly, Miguel de la Hoya, Antoine De Pauw, Hélène Delhomelle, Jacqueline Eason, Christoph Engel, D. Gareth Evans, Ulrike Faust, Tanja Fehm, Florentia Fostira, George Fountzilas, Megan N. Frone, Vanesa Garcı́a, Pilar Garré, Marion Gauthier‐Villars, Andrea Gehrig, Gord Glendon, David E. Goldgar, Lisa Golmard, Mark H. Greene, Eric Hahnen, Ute Hamann, Helen Hanson, Tiara Hassan, Julia Hentschel, Judit Horváth, Louise Izatt, Ramūnas Janavičius, Yue Jiao, Esther M. John, Beth Y. Karlan, Sung-Won Kim, Irene Konstantopoulou, Ava Kwong, Anthony Laugé, Jong Won Lee, Fabienne Lesueur, Noura Mebirouk, Alfons Meindl, Emmanuelle Mouret‐Fourme, Hannah Musgrave, Joanne Ngeow, Dieter Niederacher, Sue K. Park, Inge Søkilde Pedersen, Juliane Ramser, Susan J. Ramus, Johanna Rantala, Muhammad Usman Rashid, Florian Reichl, Julia Ritter, Andreas Rump, Marta Santamariña, Claire Saule, Gunnar Schmidt, Rita K. Schmutzler, Leigha Senter, Saba Shariff, Christian F. Singer, Melissa C. Southey, Dominique Stoppa‐Lyonnet, Christian Sutter, Yen Y. Tan, Soo‐Hwang Teo, Mary Beth Terry, Mads Thomassen, Marc Tischkowitz, Amanda E. Toland, Diana Torres, Ana Vega, Sebastian Wagner, Shan Wang‐Gohrke, Barbara Wappenschmidt, Bernhard H. F. Weber, Drakoulis Yannoukakos, Amanda B. Spurdle, Douglas F. Easton, Georgia Chenevix‐Trench

    Published 2022
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