Disruptions of Topological Chromatin Domains Cause Pathogenic Rewiring of Gene-Enhancer Interactions
Lupiáñez, Darío G., Kraft, Katerina, Heinrich, Verena, Krawitz, Peter, Brancati, Francesco, Klopocki, Eva, Horn, Denise, Kayserili, Hülya, Opitz, John M., Laxova, Renata, Santos-Simarro, Fernando, Gilbert-Dussardier, Brigitte, Wittler, Lars, Borschiwer, Marina, Haas, Stefan A., Osterwalder, Marco, Franke, Martin, Timmermann, Bernd, Hecht, Jochen, Spielmann, Malte, Visel, Axel, Mundlos, Stefan
Published in Cell (21.05.2015)
Published in Cell (21.05.2015)
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Integrative genomic profiling of large-cell neuroendocrine carcinomas reveals distinct subtypes of high-grade neuroendocrine lung tumors
George, Julie, Walter, Vonn, Peifer, Martin, Alexandrov, Ludmil B., Seidel, Danila, Leenders, Frauke, Maas, Lukas, Müller, Christian, Dahmen, Ilona, Delhomme, Tiffany M., Ardin, Maude, Leblay, Noemie, Byrnes, Graham, Sun, Ruping, De Reynies, Aurélien, McLeer-Florin, Anne, Bosco, Graziella, Malchers, Florian, Menon, Roopika, Altmüller, Janine, Becker, Christian, Nürnberg, Peter, Achter, Viktor, Lang, Ulrich, Schneider, Peter M., Bogus, Magdalena, Soloway, Matthew G., Wilkerson, Matthew D., Cun, Yupeng, McKay, James D., Moro-Sibilot, Denis, Brambilla, Christian G., Lantuejoul, Sylvie, Lemaitre, Nicolas, Soltermann, Alex, Weder, Walter, Tischler, Verena, Brustugun, Odd Terje, Lund-Iversen, Marius, Helland, Åslaug, Solberg, Steinar, Ansén, Sascha, Wright, Gavin, Solomon, Benjamin, Roz, Luca, Pastorino, Ugo, Petersen, Iver, Clement, Joachim H., Sänger, Jörg, Wolf, Jürgen, Vingron, Martin, Zander, Thomas, Perner, Sven, Travis, William D., Haas, Stefan A., Olivier, Magali, Foll, Matthieu, Büttner, Reinhard, Hayes, David Neil, Brambilla, Elisabeth, Fernandez-Cuesta, Lynnette, Thomas, Roman K.
Published in Nature communications (13.03.2018)
Published in Nature communications (13.03.2018)
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Mutations in RAB39B Cause X-Linked Intellectual Disability and Early-Onset Parkinson Disease with α-Synuclein Pathology
Wilson, Gabrielle R., Sim, Joe C.H., McLean, Catriona, Giannandrea, Maila, Galea, Charles A., Riseley, Jessica R., Stephenson, Sarah E.M., Fitzpatrick, Elizabeth, Haas, Stefan A., Pope, Kate, Hogan, Kirk J., Gregg, Ronald G., Bromhead, Catherine J., Wargowski, David S., Lawrence, Christopher H., James, Paul A., Churchyard, Andrew, Gao, Yujing, Phelan, Dean G., Gillies, Greta, Salce, Nicholas, Stanford, Lynn, Marsh, Ashley P.L., Mignogna, Maria L., Hayflick, Susan J., Leventer, Richard J., Delatycki, Martin B., Mellick, George D., Kalscheuer, Vera M., D’Adamo, Patrizia, Bahlo, Melanie, Amor, David J., Lockhart, Paul J.
Published in American journal of human genetics (04.12.2014)
Published in American journal of human genetics (04.12.2014)
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CD74-NRG1 fusions in lung adenocarcinoma
Fernandez-Cuesta, Lynnette, Plenker, Dennis, Osada, Hirotaka, Sun, Ruping, Menon, Roopika, Leenders, Frauke, Ortiz-Cuaran, Sandra, Peifer, Martin, Bos, Marc, Daßler, Juliane, Malchers, Florian, Schöttle, Jakob, Vogel, Wenzel, Dahmen, Ilona, Koker, Mirjam, Ullrich, Roland T, Wright, Gavin M, Russell, Prudence A, Wainer, Zoe, Solomon, Benjamin, Brambilla, Elisabeth, Nagy-Mignotte, Hélène, Moro-Sibilot, Denis, Brambilla, Christian G, Lantuejoul, Sylvie, Altmüller, Janine, Becker, Christian, Nürnberg, Peter, Heuckmann, Johannes M, Stoelben, Erich, Petersen, Iver, Clement, Joachim H, Sänger, Jörg, Muscarella, Lucia A, la Torre, Annamaria, Fazio, Vito M, Lahortiga, Idoya, Perera, Timothy, Ogata, Souichi, Parade, Marc, Brehmer, Dirk, Vingron, Martin, Heukamp, Lukas C, Buettner, Reinhard, Zander, Thomas, Wolf, Jürgen, Perner, Sven, Ansén, Sascha, Haas, Stefan A, Yatabe, Yasushi, Thomas, Roman K
Published in Cancer discovery (01.04.2014)
Published in Cancer discovery (01.04.2014)
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A Noncoding, Regulatory Mutation Implicates HCFC1 in Nonsyndromic Intellectual Disability
LINGLI HUANG, JOLLY, Lachlan A, HACKETT, Anna, FIELD, Michael, FROYEN, Guy, HAO HU, HAAS, Stefan A, ROPERS, Hans-Hilger, KALSCHEUER, Vera M, CORBETT, Mark A, GECZ, Jozef, WILLIS-OWEN, Saffron, GARDNER, Alison, KUMAR, Raman, DOUGLAS, Evelyn, SHOUBRIDGE, Cheryl, WIECZOREK, Dagmar, TZSCHACH, Andreas, COHEN, Monika
Published in American journal of human genetics (05.10.2012)
Published in American journal of human genetics (05.10.2012)
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THOC2 Mutations Implicate mRNA-Export Pathway in X-Linked Intellectual Disability
Kumar, Raman, Corbett, Mark A., van Bon, Bregje W.M., Woenig, Joshua A., Weir, Lloyd, Douglas, Evelyn, Friend, Kathryn L., Gardner, Alison, Shaw, Marie, Jolly, Lachlan A., Tan, Chuan, Hunter, Matthew F., Hackett, Anna, Field, Michael, Palmer, Elizabeth E., Leffler, Melanie, Rogers, Carolyn, Boyle, Jackie, Bienek, Melanie, Jensen, Corinna, Van Buggenhout, Griet, Van Esch, Hilde, Hoffmann, Katrin, Raynaud, Martine, Zhao, Huiying, Reed, Robin, Hu, Hao, Haas, Stefan A., Haan, Eric, Kalscheuer, Vera M., Gecz, Jozef
Published in American journal of human genetics (06.08.2015)
Published in American journal of human genetics (06.08.2015)
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Next-Generation Sequencing Identifies Mutations of SMPX, which Encodes the Small Muscle Protein, X-Linked, as a Cause of Progressive Hearing Impairment
Schraders, Margit, Haas, Stefan A., Weegerink, Nicole J.D., Oostrik, Jaap, Hu, Hao, Hoefsloot, Lies H., Kannan, Sriram, Huygen, Patrick L.M., Pennings, Ronald J.E., Admiraal, Ronald J.C., Kalscheuer, Vera M., Kunst, Henricus P.M., Kremer, Hannie
Published in American journal of human genetics (13.05.2011)
Published in American journal of human genetics (13.05.2011)
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ZC4H2 Mutations Are Associated with Arthrogryposis Multiplex Congenita and Intellectual Disability through Impairment of Central and Peripheral Synaptic Plasticity
Hirata, Hiromi, Nanda, Indrajit, van Riesen, Anne, McMichael, Gai, Hu, Hao, Hambrock, Melanie, Papon, Marie-Amélie, Fischer, Ute, Marouillat, Sylviane, Ding, Can, Alirol, Servane, Bienek, Melanie, Preisler-Adams, Sabine, Grimme, Astrid, Seelow, Dominik, Webster, Richard, Haan, Eric, MacLennan, Alastair, Stenzel, Werner, Yap, Tzu Ying, Gardner, Alison, Nguyen, Lam Son, Shaw, Marie, Lebrun, Nicolas, Haas, Stefan A., Kress, Wolfram, Haaf, Thomas, Schellenberger, Elke, Chelly, Jamel, Viot, Géraldine, Shaffer, Lisa G., Rosenfeld, Jill A., Kramer, Nancy, Falk, Rena, El-Khechen, Dima, Escobar, Luis F., Hennekam, Raoul, Wieacker, Peter, Hübner, Christoph, Ropers, Hans-Hilger, Gecz, Jozef, Schuelke, Markus, Laumonnier, Frédéric, Kalscheuer, Vera M.
Published in American journal of human genetics (02.05.2013)
Published in American journal of human genetics (02.05.2013)
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Intronic CA-repeat and CA-rich elements: a new class of regulators of mammalian alternative splicing
Hui, Jingyi, Hung, Lee-Hsueh, Heiner, Monika, Schreiner, Silke, Neumüller, Norma, Reither, Gregor, Haas, Stefan A, Bindereif, Albrecht
Published in The EMBO journal (01.06.2005)
Published in The EMBO journal (01.06.2005)
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Mutation p.R356Q in the Collybistin Phosphoinositide Binding Site Is Associated With Mild Intellectual Disability
Chiou, Tzu-Ting, Long, Philip, Schumann-Gillett, Alexandra, Kanamarlapudi, Venkateswarlu, Haas, Stefan A, Harvey, Kirsten, O'Mara, Megan L, De Blas, Angel L, Kalscheuer, Vera M, Harvey, Robert J
Published in Frontiers in molecular neuroscience (12.03.2019)
Published in Frontiers in molecular neuroscience (12.03.2019)
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Comparing active and repressed expression states of genes controlled by the Polycomb/Trithorax group proteins
Beisel, Christian, Buness, Andreas, Roustan-Espinosa, Ian M, Koch, Britta, Schmitt, Sabine, Haas, Stefan A, Hild, Marc, Katsuyama, Tomonori, Paro, Renato
Published in Proceedings of the National Academy of Sciences - PNAS (16.10.2007)
Published in Proceedings of the National Academy of Sciences - PNAS (16.10.2007)
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Novel Missense Mutation A789V in IQSEC2 Underlies X-Linked Intellectual Disability in the MRX78 Family
Kalscheuer, Vera M, James, Victoria M, Himelright, Miranda L, Long, Philip, Oegema, Renske, Jensen, Corinna, Bienek, Melanie, Hu, Hao, Haas, Stefan A, Topf, Maya, Hoogeboom, A Jeannette M, Harvey, Kirsten, Walikonis, Randall, Harvey, Robert J
Published in Frontiers in molecular neuroscience (11.01.2016)
Published in Frontiers in molecular neuroscience (11.01.2016)
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Breakpointer: using local mapping artifacts to support sequence breakpoint discovery from single-end reads
RUPING SUN, LOVE, Michael I, ZEMOJTEL, Tomasz, EMDE, Anne-Katrin, CHUNG, Ho-Ryun, VINGRON, Martin, HAAS, Stefan A
Published in Bioinformatics (Oxford, England) (01.04.2012)
Published in Bioinformatics (Oxford, England) (01.04.2012)
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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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Comprehensive genomic profiles of small cell lung cancer
George, Julie, Lim, Jing Shan, Jang, Se Jin, Cun, Yupeng, Ozretić, Luka, Kong, Gu, Leenders, Frauke, Lu, Xin, Fernández-Cuesta, Lynnette, Bosco, Graziella, Müller, Christian, Dahmen, Ilona, Jahchan, Nadine S., Park, Kwon-Sik, Yang, Dian, Karnezis, Anthony N., Vaka, Dedeepya, Torres, Angela, Wang, Maia Segura, Korbel, Jan O., Menon, Roopika, Chun, Sung-Min, Kim, Deokhoon, Wilkerson, Matt, Hayes, Neil, Engelmann, David, Pützer, Brigitte, Bos, Marc, Michels, Sebastian, Vlasic, Ignacija, Seidel, Danila, Pinther, Berit, Schaub, Philipp, Becker, Christian, Altmüller, Janine, Yokota, Jun, Kohno, Takashi, Iwakawa, Reika, Tsuta, Koji, Noguchi, Masayuki, Muley, Thomas, Hoffmann, Hans, Schnabel, Philipp A., Petersen, Iver, Chen, Yuan, Soltermann, Alex, Tischler, Verena, Choi, Chang-min, Kim, Yong-Hee, Massion, Pierre P., Zou, Yong, Jovanovic, Dragana, Kontic, Milica, Wright, Gavin M., Russell, Prudence A., Solomon, Benjamin, Koch, Ina, Lindner, Michael, Muscarella, Lucia A., la Torre, Annamaria, Field, John K., Jakopovic, Marko, Knezevic, Jelena, Castaños-Vélez, Esmeralda, Roz, Luca, Pastorino, Ugo, Brustugun, Odd-Terje, Lund-Iversen, Marius, Thunnissen, Erik, Köhler, Jens, Schuler, Martin, Botling, Johan, Sandelin, Martin, Sanchez-Cespedes, Montserrat, Salvesen, Helga B., Achter, Viktor, Lang, Ulrich, Bogus, Magdalena, Schneider, Peter M., Zander, Thomas, Ansén, Sascha, Hallek, Michael, Wolf, Jürgen, Vingron, Martin, Yatabe, Yasushi, Travis, William D., Nürnberg, Peter, Reinhardt, Christian, Perner, Sven, Heukamp, Lukas, Büttner, Reinhard, Haas, Stefan A., Brambilla, Elisabeth, Peifer, Martin, Sage, Julien, Thomas, Roman K.
Published in Nature (London) (06.08.2015)
Published in Nature (London) (06.08.2015)
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Mutations in DDX3X Are a Common Cause of Unexplained Intellectual Disability with Gender-Specific Effects on Wnt Signaling
Snijders Blok, Lot, Madsen, Erik, Juusola, Jane, Gilissen, Christian, Baralle, Diana, Reijnders, Margot R.F., Venselaar, Hanka, Helsmoortel, Céline, Cho, Megan T., Hoischen, Alexander, Vissers, Lisenka E.L.M., Koemans, Tom S., Wissink-Lindhout, Willemijn, Eichler, Evan E., Romano, Corrado, Van Esch, Hilde, Stumpel, Connie, Vreeburg, Maaike, Smeets, Eric, Oberndorff, Karin, van Bon, Bregje W.M., Shaw, Marie, Gecz, Jozef, Haan, Eric, Bienek, Melanie, Jensen, Corinna, Loeys, Bart L., Van Dijck, Anke, Innes, A. Micheil, Racher, Hilary, Vermeer, Sascha, Di Donato, Nataliya, Rump, Andreas, Tatton-Brown, Katrina, Parker, Michael J., Henderson, Alex, Lynch, Sally A., Fryer, Alan, Ross, Alison, Vasudevan, Pradeep, Kini, Usha, Newbury-Ecob, Ruth, Chandler, Kate, Male, Alison, Dijkstra, Sybe, Schieving, Jolanda, Giltay, Jacques, van Gassen, Koen L.I., Schuurs-Hoeijmakers, Janneke, Tan, Perciliz L., Pediaditakis, Igor, Haas, Stefan A., Retterer, Kyle, Reed, Patrick, Monaghan, Kristin G., Haverfield, Eden, Natowicz, Marvin, Myers, Angela, Kruer, Michael C., Stein, Quinn, Strauss, Kevin A., Brigatti, Karlla W., Keating, Katherine, Burton, Barbara K., Kim, Katherine H., Charrow, Joel, Norman, Jennifer, Foster-Barber, Audrey, Kline, Antonie D., Kimball, Amy, Zackai, Elaine, Harr, Margaret, Fox, Joyce, McLaughlin, Julie, Lindstrom, Kristin, Haude, Katrina M., van Roozendaal, Kees, Brunner, Han, Chung, Wendy K., Kooy, R. Frank, Pfundt, Rolph, Kalscheuer, Vera, Mehta, Sarju G., Katsanis, Nicholas, Kleefstra, Tjitske
Published in American journal of human genetics (06.08.2015)
Published in American journal of human genetics (06.08.2015)
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Frequent mutations in chromatin-remodelling genes in pulmonary carcinoids
Fernandez-Cuesta, Lynnette, Peifer, Martin, Lu, Xin, Sun, Ruping, Ozretić, Luka, Seidel, Danila, Zander, Thomas, Leenders, Frauke, George, Julie, Müller, Christian, Dahmen, Ilona, Pinther, Berit, Bosco, Graziella, Konrad, Kathryn, Altmüller, Janine, Nürnberg, Peter, Achter, Viktor, Lang, Ulrich, Schneider, Peter M., Bogus, Magdalena, Soltermann, Alex, Brustugun, Odd Terje, Helland, Åslaug, Solberg, Steinar, Lund-Iversen, Marius, Ansén, Sascha, Stoelben, Erich, Wright, Gavin M., Russell, Prudence, Wainer, Zoe, Solomon, Benjamin, Field, John K., Hyde, Russell, Davies, Michael P. A., Heukamp, Lukas C., Petersen, Iver, Perner, Sven, Lovly, Christine M., Cappuzzo, Federico, Travis, William D., Wolf, Jürgen, Vingron, Martin, Brambilla, Elisabeth, Haas, Stefan A., Buettner, Reinhard, Thomas, Roman K.
Published in Nature communications (27.03.2014)
Published in Nature communications (27.03.2014)
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Mutation screening in 86 known X-linked mental retardation genes by droplet-based multiplex PCR and massive parallel sequencing
Hu, Hao, Wrogemann, Klaus, Kalscheuer, Vera, Tzschach, Andreas, Richard, Hugues, Haas, Stefan A., Menzel, Corinna, Bienek, Melanie, Froyen, Guy, Raynaud, Martine, Van Bokhoven, Hans, Chelly, Jamel, Ropers, Hilger, Chen, Wei
Published in The HUGO journal (01.12.2009)
Published in The HUGO journal (01.12.2009)
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PASTAA: identifying transcription factors associated with sets of co-regulated genes
Roider, Helge G., Manke, Thomas, O'Keeffe, Sean, Vingron, Martin, Haas, Stefan A.
Published in Bioinformatics (15.02.2009)
Published in Bioinformatics (15.02.2009)
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Repression and 3D-restructuring resolves regulatory conflicts in evolutionarily rearranged genomes
Ringel, Alessa R, Szabo, Quentin, Chiariello, Andrea M, Chudzik, Konrad, Schöpflin, Robert, Rothe, Patricia, Mattei, Alexandra L, Zehnder, Tobias, Harnett, Dermot, Laupert, Verena, Bianco, Simona, Hetzel, Sara, Glaser, Juliane, Phan, Mai H Q, Schindler, Magdalena, Ibrahim, Daniel M, Paliou, Christina, Esposito, Andrea, Prada-Medina, Cesar A, Haas, Stefan A, Giere, Peter, Vingron, Martin, Wittler, Lars, Meissner, Alexander, Nicodemi, Mario, Cavalli, Giacomo, Bantignies, Frédéric, Mundlos, Stefan, Robson, Michael I
Published in Cell (29.09.2022)
Published in Cell (29.09.2022)
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