Extreme Growth Failure is a Common Presentation of Ligase IV Deficiency

por Murray, Jennie E, Bicknell, Louise S, Yigit, Gökhan, Duker, Angela L, van Kogelenberg, Margriet, Haghayegh, Sara, Wieczorek, Dagmar, Kayserili, Hülya, Albert, Michael H, Wise, Carol A, Brandon, January, Kleefstra, Tjitske, Warris, Adilia, van der Flier, Michiel, Bamforth, J Steven, Doonanco, Kurston, Adès, Lesley, Ma, Alan, Field, Michael, Johnson, Diana, Shackley, Fiona, Firth, Helen, Woods, C Geoffrey, Nürnberg, Peter, Gatti, Richard A, Hurles, Matthew, Bober, Michael B, Wollnik, Bernd, Jackson, Andrew P
Publicado 2014

Evaluation of Presumably Disease Causing SCN1A Variants in a Cohort of Common Epilepsy Syndromes

por Lal, Dennis, Reinthaler, Eva M., Dejanovic, Borislav, May, Patrick, Thiele, Holger, Lehesjoki, Anna-Elina, Schwarz, Günter, Riesch, Erik, Ikram, M. Arfan, van Duijn, Cornelia M., Uitterlinden, Andre G., Hofman, Albert, Steinböck, Hannelore, Gruber-Sedlmayr, Ursula, Neophytou, Birgit, Zara, Federico, Hahn, Andreas, Gormley, Padhraig, Becker, Felicitas, Weber, Yvonne G., Cilio, Maria Roberta, Kunz, Wolfram S., Krause, Roland, Zimprich, Fritz, Lemke, Johannes R., Nürnberg, Peter, Sander, Thomas, Lerche, Holger, Neubauer, Bernd A.
Publicado 2016

Clonal dynamics towards the development of venetoclax resistance in chronic lymphocytic leukemia

por Herling, Carmen D., Abedpour, Nima, Weiss, Jonathan, Schmitt, Anna, Jachimowicz, Ron Daniel, Merkel, Olaf, Cartolano, Maria, Oberbeck, Sebastian, Mayer, Petra, Berg, Valeska, Thomalla, Daniel, Kutsch, Nadine, Stiefelhagen, Marius, Cramer, Paula, Wendtner, Clemens-Martin, Persigehl, Thorsten, Saleh, Andreas, Altmüller, Janine, Nürnberg, Peter, Pallasch, Christian, Achter, Viktor, Lang, Ulrich, Eichhorst, Barbara, Castiglione, Roberta, Schäfer, Stephan C., Büttner, Reinhard, Kreuzer, Karl-Anton, Reinhardt, Hans Christian, Hallek, Michael, Frenzel, Lukas P., Peifer, Martin
Publicado 2018

Long‐lived macrophage reprogramming drives spike protein‐mediated inflammasome activation in COVID‐19

por Theobald, Sebastian J, Simonis, Alexander, Georgomanolis, Theodoros, Kreer, Christoph, Zehner, Matthias, Eisfeld, Hannah S, Albert, Marie‐Christine, Chhen, Jason, Motameny, Susanne, Erger, Florian, Fischer, Julia, Malin, Jakob J, Gräb, Jessica, Winter, Sandra, Pouikli, Andromachi, David, Friederike, Böll, Boris, Koehler, Philipp, Vanshylla, Kanika, Gruell, Henning, Suárez, Isabelle, Hallek, Michael, Fätkenheuer, Gerd, Jung, Norma, Cornely, Oliver A, Lehmann, Clara, Tessarz, Peter, Altmüller, Janine, Nürnberg, Peter, Kashkar, Hamid, Klein, Florian, Koch, Manuel, Rybniker, Jan
Publicado 2021

TRAIP promotes DNA damage response during genome replication and is mutated in primordial dwarfism

por Harley, Margaret E., Murina, Olga, Leitch, Andrea, Higgs, Martin R., Bicknell, Louise S., Yigit, Gökhan, Blackford, Andrew N., Zlatanou, Anastasia, Mackenzie, Karen J., Reddy, Kaalak, Halachev, Mihail, McGlasson, Sarah, Reijns, Martin A. M., Fluteau, Adeline, Martin, Carol-Anne, Sabbioneda, Simone, Elcioglu, Nursel H., Altmüller, Janine, Thiele, Holger, Greenhalgh, Lynn, Chessa, Luciana, Maghnie, Mohamad, Salim, Mahmoud, Bober, Michael B., Nürnberg, Peter, Jackson, Stephen P., Hurles, Matthew E., Wollnik, Bernd, Stewart, Grant S., Jackson, Andrew P.
Publicado 2015

Actionable perturbations of damage responses by TCL1/ATM and epigenetic lesions form the basis of T-PLL

por Schrader, A., Crispatzu, G., Oberbeck, S., Mayer, P., Pützer, S., von Jan, J., Vasyutina, E., Warner, K., Weit, N., Pflug, N., Braun, T., Andersson, E. I., Yadav, B., Riabinska, A., Maurer, B., Ventura Ferreira, M. S., Beier, F., Altmüller, J., Lanasa, M., Herling, C. D., Haferlach, T., Stilgenbauer, S., Hopfinger, G., Peifer, M., Brümmendorf, T. H., Nürnberg, P., Elenitoba-Johnson, K. S. J., Zha, S., Hallek, M., Moriggl, R., Reinhardt, H. C., Stern, M.-H., Mustjoki, S., Newrzela, S., Frommolt, P., Herling, M.
Publicado 2018

Exome sequencing in large, multiplex bipolar disorder families from Cuba

por Maaser, Anna, Forstner, Andreas J., Strohmaier, Jana, Hecker, Julian, Ludwig, Kerstin U., Sivalingam, Sugirthan, Streit, Fabian, Degenhardt, Franziska, Witt, Stephanie H., Reinbold, Céline S., Koller, Anna C., Raff, Ruth, Heilmann-Heimbach, Stefanie, Fischer, Sascha B., Herms, Stefan, Hoffmann, Per, Thiele, Holger, Nürnberg, Peter, Löhlein Fier, Heide, Orozco-Díaz, Guillermo, Carmenate-Naranjo, Deinys, Proenza-Barzaga, Niurka, Auburger, Georg W. J., Andlauer, Till F. M., Cichon, Sven, Marcheco-Teruel, Beatriz, Mors, Ole, Rietschel, Marcella, Nöthen, Markus M.
Publicado 2018

Whole Genome Sequence, Variant Discovery and Annotation in Mapuche-Huilliche Native South Americans

por Vidal, Elena A., Moyano, Tomás C., Bustos, Bernabé I., Pérez-Palma, Eduardo, Moraga, Carol, Riveras, Eleodoro, Montecinos, Alejandro, Azócar, Lorena, Soto, Daniela C., Vidal, Mabel, Di Genova, Alex, Puschel, Klaus, Nürnberg, Peter, Buch, Stephan, Hampe, Jochen, Allende, Miguel L., Cambiazo, Verónica, González, Mauricio, Hodar, Christian, Montecino, Martín, Muñoz-Espinoza, Claudia, Orellana, Ariel, Reyes-Jara, Angélica, Travisany, Dante, Vizoso, Paula, Moraga, Mauricio, Eyheramendy, Susana, Maass, Alejandro, De Ferrari, Giancarlo V., Miquel, Juan Francisco, Gutiérrez, Rodrigo A.
Publicado 2019

Gene family information facilitates variant interpretation and identification of disease-associated genes in neurodevelopmental disorders

por Lal, Dennis, May, Patrick, Perez-Palma, Eduardo, Samocha, Kaitlin E., Kosmicki, Jack A., Robinson, Elise B., Møller, Rikke S., Krause, Roland, Nürnberg, Peter, Weckhuysen, Sarah, De Jonghe, Peter, Guerrini, Renzo, Niestroj, Lisa M., Du, Juliana, Marini, Carla, Ware, James S., Kurki, Mitja, Gormley, Padhraig, Tang, Sha, Wu, Sitao, Biskup, Saskia, Poduri, Annapurna, Neubauer, Bernd A., Koeleman, Bobby P. C., Helbig, Katherine L., Weber, Yvonne G., Helbig, Ingo, Majithia, Amit R., Palotie, Aarno, Daly, Mark J.
Publicado 2020

Identification of two novel bullous pemphigoid- associated alleles, HLA-DQA1*05:05 and -DRB1*07:01, in Germans

por Schwarm, Christian, Gola, Damian, Holtsche, Maike M., Dieterich, Anabelle, Bhandari, Anita, Freitag, Miriam, Nürnberg, Peter, Toliat, Mohammad, Lieb, Wolfgang, Wittig, Michael, Franke, André, Worm, Margitta, Sticherling, Michael, Ehrchen, Jan, Günther, Claudia, Gläser, Regine, Peitsch, Wiebke K., Sárdy, Miklós, Eming, Rüdiger, Hertl, Michael, Benoit, Sandrine, Goebeler, Matthias, Pföhler, Claudia, Kunz, Manfred, Kreuter, Alexander, van Beek, Nina, Erdmann, Jeanette, Busch, Hauke, Zillikens, Detlef, Sadik, Christian D., Hirose, Misa, König, Inke R., Schmidt, Enno, Ibrahim, Saleh M.
Publicado 2021

CEP162 deficiency causes human retinal degeneration and reveals a dual role in ciliogenesis and neurogenesis

por Nuzhat, Nafisa, Van Schil, Kristof, Liakopoulos, Sandra, Bauwens, Miriam, Rey, Alfredo Dueñas, Käseberg, Stephan, Jäger, Melanie, Willer, Jason R., Winter, Jennifer, Truong, Hanh M., Gruartmoner, Nuria, Van Heetvelde, Mattias, Wolf, Joachim, Merget, Robert, Grasshoff-Derr, Sabine, Van Dorpe, Jo, Hoorens, Anne, Stöhr, Heidi, Mansard, Luke, Roux, Anne-Françoise, Langmann, Thomas, Dannhausen, Katharina, Rosenkranz, David, Wissing, Karl M., Van Lint, Michel, Rossmann, Heidi, Häuser, Friederike, Nürnberg, Peter, Thiele, Holger, Zechner, Ulrich, Pearring, Jillian N., De Baere, Elfride, Bolz, Hanno J.
Publicado 2023

De novo variants of CSNK2B cause a new intellectual disability-craniodigital syndrome by disrupting the canonical Wnt signaling pathway

por Asif, Maria, Kaygusuz, Emrah, Shinawi, Marwan, Nickelsen, Anna, Hsieh, Tzung-Chien, Wagle, Prerana, Budde, Birgit S., Hochscherf, Jennifer, Abdullah, Uzma, Höning, Stefan, Nienberg, Christian, Lindenblatt, Dirk, Noegel, Angelika A., Altmüller, Janine, Thiele, Holger, Motameny, Susanne, Fleischer, Nicole, Segal, Idan, Pais, Lynn, Tinschert, Sigrid, Samra, Nadra Nasser, Savatt, Juliann M., Rudy, Natasha L., De Luca, Chiara, Paola Fortugno, White, Susan M., Krawitz, Peter, Hurst, Anna C.E., Niefind, Karsten, Jose, Joachim, Brancati, Francesco, Nürnberg, Peter, Hussain, Muhammad Sajid
Publicado 2022

Enabling Technologies for Silicon Microstrip Tracking Detectors at the HL-LHC

por Barth, C., Betancourt, C.A., Bloch, I., Bögelspacher, F., de Boer, W., Daniels, M., Dierlamm, A., Eber, R., Eckerlin, G., Eckstein, D., Eichhorn, T., Erfle, J., Feld, L., Garutti, E., Gregor, I. -M., Guthoff, M., Hartmann, F., Hauser, M., Husemann, U., Jakobs, K., Junkes, A., Karpinski, W., Klein, K., Kuehn, S., Lacker, H., Mahboubi, K., Müller, Th., Mussgiller, A., Nürnberg, A., Parzefall, U., Poehlsen, T., Poley, L., Preuten, M., Rehnisch, L., Sammet, J., Schleper, P., Schuwalow, S., Sperlich, D., Stanitzki, M., Steinbrück, G., Wlochal, M.
Publicado 2016

Prevalence of deleterious germline variants in risk genes including BRCA1/2 in consecutive ovarian cancer patients (AGO-TR-1)

por Harter, Philipp, Hauke, Jan, Heitz, Florian, Reuss, Alexander, Kommoss, Stefan, Marmé, Frederik, Heimbach, André, Prieske, Katharina, Richters, Lisa, Burges, Alexander, Neidhardt, Guido, de Gregorio, Nikolaus, El-Balat, Ahmed, Hilpert, Felix, Meier, Werner, Kimmig, Rainer, Kast, Karin, Sehouli, Jalid, Baumann, Klaus, Jackisch, Christian, Park-Simon, Tjoung-Won, Hanker, Lars, Kröber, Sandra, Pfisterer, Jacobus, Gevensleben, Heidrun, Schnelzer, Andreas, Dietrich, Dimo, Neunhöffer, Tanja, Krockenberger, Mathias, Brucker, Sara Y., Nürnberg, Peter, Thiele, Holger, Altmüller, Janine, Lamla, Josefin, Elser, Gabriele, du Bois, Andreas, Hahnen, Eric, Schmutzler, Rita
Publicado 2017

BRIP1 loss-of-function mutations confer high risk for familial ovarian cancer, but not familial breast cancer

por 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
Publicado 2018

A laser-plasma platform for photon-photon physics

por Kettle, B., Hollatz, D., Gerstmayr, E., Samarin, G.M., Alejo, A., Astbury, S., Baird, C., Bohlen, S., Campbell, M., Colgan, C., Dannheim, D., Gregory, C., Harsh, H., Hatfield, P., Hinojosa, J., Katzir, Y., Morton, J., Murphy, C.D., Nurnberg, A., Osterhoff, J., Pérez-Callejo, G., Põder, K., Rajeev, P.P., Roedel, C., Roeder, F., Salgado, F.C., Sarri, G., Seidel, A., Spannagel, S., Spindloe, C., Steinke, S., Streeter, M.J. V., Thomas, A.G. R., Underwood, C., Watt, R., Zepf, M., Rose, S.J., Mangles, S.P. D.
Publicado 2021

Deregulation and epigenetic modification of BCL2-family genes cause resistance to venetoclax in hematologic malignancies

por Thomalla, D., Beckmann, L., Grimm, C., Oliverio, M., Meder, L., Herling, C.D., Nieper, P., Feldmann, T., Merkel, O., Lorsy, E., da Palma Guerreiro, A., von Jan, J., Kisis, I., Wasserburger, E., Claasen, J., Faitschuk-Meyer, E., Altmüller, J., Nürnberg, P., Yang, T.-P., Lienhard, M., Herwig, R., Kreuzer, K.-A., Pallasch, C.P., Büttner, R., Schäfer, S.C., Hartley, J., Abken, H., Peifer, M., Kashkar, H., Knittel, G., Eichhorst, B., Ullrich, R.T., Herling, M., Reinhardt, H.C., Hallek, M., Schweiger, M.R., Frenzel, L.P.
Publicado 2022

Identification of novel fusion genes in lung cancer using breakpoint assembly of transcriptome sequencing data

por Fernandez-Cuesta, Lynnette, Sun, Ruping, Menon, Roopika, George, Julie, Lorenz, Susanne, Meza-Zepeda, Leonardo A, Peifer, Martin, Plenker, Dennis, Heuckmann, Johannes M, Leenders, Frauke, Zander, Thomas, Dahmen, Ilona, Koker, Mirjam, Schöttle, Jakob, Ullrich, Roland T, Altmüller, Janine, Becker, Christian, Nürnberg, Peter, Seidel, Henrik, Böhm, Diana, Göke, Friederike, Ansén, Sascha, Russell, Prudence A, Wright, Gavin M, Wainer, Zoe, Solomon, Benjamin, Petersen, Iver, Clement, Joachim H, Sänger, Jörg, Brustugun, Odd-Terje, Helland, Åslaug, Solberg, Steinar, Lund-Iversen, Marius, Buettner, Reinhard, Wolf, Jürgen, Brambilla, Elisabeth, Vingron, Martin, Perner, Sven, Haas, Stefan A, Thomas, Roman K
Publicado 2015

Burden Analysis of Rare Microdeletions Suggests a Strong Impact of Neurodevelopmental Genes in Genetic Generalised Epilepsies

por Lal, Dennis, Ruppert, Ann-Kathrin, Trucks, Holger, Schulz, Herbert, de Kovel, Carolien G., Kasteleijn-Nolst Trenité, Dorothée, Sonsma, Anja C. M., Koeleman, Bobby P., Lindhout, Dick, Weber, Yvonne G., Lerche, Holger, Kapser, Claudia, Schankin, Christoph J., Kunz, Wolfram S., Surges, Rainer, Elger, Christian E., Gaus, Verena, Schmitz, Bettina, Helbig, Ingo, Muhle, Hiltrud, Stephani, Ulrich, Klein, Karl M., Rosenow, Felix, Neubauer, Bernd A., Reinthaler, Eva M., Zimprich, Fritz, Feucht, Martha, Møller, Rikke S., Hjalgrim, Helle, De Jonghe, Peter, Suls, Arvid, Lieb, Wolfgang, Franke, Andre, Strauch, Konstantin, Gieger, Christian, Schurmann, Claudia, Schminke, Ulf, Nürnberg, Peter, Sander, Thomas
Publicado 2015

Whole-exome sequencing of 81 individuals from 27 multiply affected bipolar disorder families

por Forstner, Andreas J., Fischer, Sascha B., Schenk, Lorena M., Strohmaier, Jana, Maaser-Hecker, Anna, Reinbold, Céline S., Sivalingam, Sugirthan, Hecker, Julian, Streit, Fabian, Degenhardt, Franziska, Witt, Stephanie H., Schumacher, Johannes, Thiele, Holger, Nürnberg, Peter, Guzman-Parra, José, Orozco Diaz, Guillermo, Auburger, Georg, Albus, Margot, Borrmann-Hassenbach, Margitta, González, Maria José, Gil Flores, Susana, Cabaleiro Fabeiro, Francisco J., del Río Noriega, Francisco, Perez Perez, Fermin, Haro González, Jesus, Rivas, Fabio, Mayoral, Fermin, Bauer, Michael, Pfennig, Andrea, Reif, Andreas, Herms, Stefan, Hoffmann, Per, Pirooznia, Mehdi, Goes, Fernando S., Rietschel, Marcella, Nöthen, Markus M., Cichon, Sven
Publicado 2020