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Number of items: 14.

Journal Article

Balogh, Eszter ORCID: 0000-0003-2813-4759, Chandler, Jennifer C. ORCID: 0000-0001-9785-4528, Varga, Mate ORCID: 0000-0003-4289-1705, Tahoun, Mona, Menyhard, Dora K., Schay, Gusztav, Goncalves, Tomas ORCID: 0000-0002-3342-0461, Hamar, Renata, Legradi, Regina ORCID: 0000-0002-5634-4000, Szekeres, Akos, Gribouval, Olivier, Kleta, Robert, Stanescu, Horia, Bockenhauer, Detlef, Kerti, Andrea, Williams, Hywel, Kinsler, Veronica, Di, Wei-Li, Curtis, David, Kolatsi-Joannou, Maria, Hammid, Hafsa, Szocs, Anna, Perczel, Kristof, Maka, Erika, Toldi, Gergely, Sava, Florentina, Arrondel, Christelle, Kardos, Magdolna, Fintha, Attila, Hossain, Ahmed, D'Arco, Felipe, Kaliakatsos, Mario, Koeglmeier, Jutta, Mifsud, William, Moosajee, Mariya, Faro, Ana, Javorszky, Eszter, Rudas, Gabor, Saied, Marwa H., Marzouk, Salah, Kelen, Kata, Gotze, Judit, Reusz, George, Tulassay, Tivadar, Dragon, Francois, Mollet, Geraldine, Motameny, Susanne, Thiele, Holger ORCID: 0000-0002-0169-998X, Dorval, Guillaume ORCID: 0000-0003-3883-1398, Nurnberg, Peter, Perczel, Andras, Szabo, Attila J., Long, David A., Tomita, Kazunori, Antignac, Corinne, Waters, Aoife M. and Tory, Kalman (2020). Pseudouridylation defect due to DKC1 and NOP10 mutations causes nephrotic syndrome with cataracts, hearing impairment, and enterocolitis. Proc. Natl. Acad. Sci. U. S. A., 117 (26). S. 15137 - 15148. WASHINGTON: NATL ACAD SCIENCES. ISSN 0027-8424

Borck, Guntram, Hog, Friederike, Dentici, Maria Lisa, Tan, Perciliz L., Sowada, Nadine, Medeira, Ana, Gueneau, Lucie, Thiele, Holger, Kousi, Maria, Lepri, Francesca, Wenzeck, Larissa, Blumenthal, Ian, Radicioni, Antonio, Schwarzenberg, Tito Livio, Mandriani, Barbara ORCID: 0000-0002-4139-0602, Fischetto, Rita, Morris-Rosendahl, Deborah J., Altmuller, Janine, Reymond, Alexandre, Nurnberg, Peter, Merla, Giuseppe, Dallapiccola, Bruno ORCID: 0000-0002-5031-1013, Katsanis, Nicholas ORCID: 0000-0002-2480-0171, Cramer, Patrick and Kubisch, Christian ORCID: 0000-0003-4220-0978 (2015). BRF1 mutations alter RNA polymerase III-dependent transcription and cause neurodevelopmental anomalies. Genome Res., 25 (2). S. 155 - 167. COLD SPRING HARBOR: COLD SPRING HARBOR LAB PRESS, PUBLICATIONS DEPT. ISSN 1549-5469

Fernandez-Cuesta, Lynnette ORCID: 0000-0002-0724-6703, Plenker, Dennis, Osada, Hirotaka, Sun, Ruping, Menon, Roopika, Leenders, Frauke, Ortiz-Cuaran, Sandra, Peifer, Martin ORCID: 0000-0002-5243-5503, Bos, Marc, Dassler, Juliane, Malchers, Florian, Schottle, Jakob, Vogel, Wenzel, Dahmen, Ilona, Koker, Mirjam, Ullrich, Roland T., Wright, Gavin M., Russell, Prudence A., Wainer, Zoe, Solomon, Benjamin, Brambilla, Elisabeth, Nagy-Mignotte, Helene, Moro-Sibilot, Denis, Brambilla, Christian G., Lantuejoul, Sylvie, Altmuller, Janine, Becker, Christian, Nurnberg, Peter, Heuckmann, Johannes M., Stoelben, Erich, Petersen, Iver, Clement, Joachim H. ORCID: 0000-0002-6601-2456, Saenger, Joerg, Muscarella, Lucia A., la Torre, Annamaria ORCID: 0000-0003-4199-1077, Fazio, Vito M., Lahortiga, Idoya, Perera, Timothy, Ogata, Souichi, Parade, Marc, Brehmer, Dirk, Vingron, Martin, Heukamp, Lukas C., Buettner, Reinhard, Zander, Thomas, Wolf, Jurgen, Perner, Sven, Ansen, Sascha, Haas, Stefan A., Yatabe, Yasushi ORCID: 0000-0003-1788-559X and Thomas, Roman K. (2014). CD74-NRG1 Fusions in Lung Adenocarcinoma. Cancer Discov., 4 (4). S. 415 - 423. PHILADELPHIA: AMER ASSOC CANCER RESEARCH. ISSN 2159-8290

Fessler, Evelyn, Drost, Jarno ORCID: 0000-0002-2941-6179, van Hooff, Sander R., Linnekamp, Janneke F., Wang, Xin ORCID: 0000-0002-5122-2418, Jansen, Marnix, Melo, Felipe De Sousa E., Prasetyanti, Pramudita R., Ijspeert, Joep E. G., Franitza, Marek, Nurnberg, Peter, van Noesel, Carel J. M., Dekker, Evelien, Vermeulen, Louis ORCID: 0000-0002-6066-789X, Clevers, Hans and Medema, Jan Paul (2016). TGF beta signaling directs serrated adenomas to the mesenchymal colorectal cancer subtype. EMBO Mol. Med., 8 (7). S. 745 - 761. HOBOKEN: WILEY. ISSN 1757-4684

George, Julie, Walter, Vonn ORCID: 0000-0001-6114-6714, Peifer, Martin, Alexandrov, Ludmil B., Seidel, Danila ORCID: 0000-0003-4388-3117, Leenders, Frauke, Maas, Lukas, Mueller, Christian, Dahmen, Ilona, Delhomme, Tiffany M. ORCID: 0000-0003-0265-4246, Ardin, Maude, Leblay, Noemie, Byrnes, Graham ORCID: 0000-0003-3893-7539, Sun, Ruping, De Reynies, Aurelien, McLeer-Florin, Anne, Bosco, Graziella, Malchers, Florian, Menon, Roopika, Altmuller, Janine, Becker, Christian, Nurnberg, Peter, Achter, Viktor, Lang, Ulrich, Schneider, Peter M. ORCID: 0000-0003-0744-2349, Bogus, Magdalena, Soloway, Matthew G., Wilkerson, Matthew D., Cun, Yupeng ORCID: 0000-0002-4241-8099, McKay, James D., Moro-Sibilot, Denis, Brambilla, Christian G., Lantuejoul, Sylvie, Lemaitre, Nicolas, Soltermann, Alex, Weder, Walter, Tischler, Verena ORCID: 0000-0002-6673-8329, Brustugun, Odd Terje, Lund-Iversen, Marius, Helland, Aslaug ORCID: 0000-0002-5520-0275, Solberg, Steinar, Ansen, Sascha, Wright, Gavin, Solomon, Benjamin, Roz, Luca ORCID: 0000-0001-5817-7149, Pastorino, Ugo, Petersen, Iver, Clement, Joachim H. ORCID: 0000-0002-6601-2456, Saenger, Jorg, Wolf, Jurgen, Vingron, Martin, Zander, Thomas, Perner, Sven, Travis, William D., Haas, Stefan A., Olivier, Magali, Foll, Matthieu ORCID: 0000-0001-9006-8436, Buettner, Reinhard, Hayes, David Neil, Brambilla, Elisabeth, Fernandez-Cuesta, Lynnette ORCID: 0000-0002-0724-6703 and Thomas, Roman K. (2018). Integrative genomic profiling of large-cell neuroendocrine carcinomas reveals distinct subtypes of high-grade neuroendocrine lung tumors. Nat. Commun., 9. LONDON: NATURE PUBLISHING GROUP. ISSN 2041-1723

Haliloglu, Goknur, Becker, Kerstin, Temucin, Cagri, Talim, Beril, Kucuksahin, Nalan, Pergande, Matthias, Motameny, Susanne, Nurnberg, Peter, Aydingoz, Ustun ORCID: 0000-0002-4325-847X, Topaloglu, Haluk and Cirak, Sebahattin (2017). Recessive PIEZO2 stop mutation causes distal arthrogryposis with distal muscle weakness, scoliosis and proprioception defects. J. Hum. Genet., 62 (4). S. 497 - 502. NEW YORK: NATURE PUBLISHING GROUP. ISSN 1435-232X

Lemke, Johannes R., Geider, Kirsten, Helbig, Katherine L., Heyne, Henrike O., Schutz, Hannah, Hentschel, Julia, Courage, Carolina, Depienne, Christel, Nava, Caroline ORCID: 0000-0003-1272-0518, Heron, Delphine, Moller, Rikke S., Hjalgrim, Helle, Lal, Dennis, Neubauer, Bernd A., Nurnberg, Peter, Thiele, Holger, Kurlemann, Gerhard, Arnold, Georgianne L., Bhambhani, Vikas, Bartholdi, Deborah, Pedurupillay, Christeen Ramane J., Misceo, Doriana, Frengen, Eirik ORCID: 0000-0002-8387-2247, Stromme, Petter, Dlugos, Dennis J., Doherty, Emily S., Bijlsma, Emilia K., Ruivenkamp, Claudia A., Hoffer, Mariette J. V., Goldstein, Amy, Rajan, Deepa S., Narayanan, Vinodh ORCID: 0000-0002-0658-3847, Ramsey, Keri, Belnap, Newell, Schrauwen, Isabelle ORCID: 0000-0001-7310-6082, Richholt, Ryan, Koeleman, Bobby P. C., Sa, Joaquim, Mendonca, Carla ORCID: 0000-0001-9926-0598, de Kovel, Carolien G. F., Weckhuysen, Sarah ORCID: 0000-0003-2878-1147, Hardies, Katia, De Jonghe, Peter, De Meirleir, Linda, Milh, Mathieu, Badens, Catherine ORCID: 0000-0001-9024-310X, Lebrun, Marine, Busa, Tiffany, Francannet, Christine, Piton, Amelie, Riesch, Erik, Biskup, Saskia, Vogt, Heinrich, Dorn, Thomas, Helbig, Ingo ORCID: 0000-0001-8486-0558, Michaud, Jacques L., Laube, Bodo and Syrbe, Steffen (2016). Delineating the GRIN1 phenotypic spectrum: A distinct genetic NMDA receptor encephalopathy. Neurology, 86 (23). S. 2171 - 2179. PHILADELPHIA: LIPPINCOTT WILLIAMS & WILKINS. ISSN 1526-632X

Ozieblo, Dominika ORCID: 0000-0002-3454-8002, Sarosiak, Anna ORCID: 0000-0003-0806-9195, Leja, Marcin L., Budde, Birgit S., Tacikowska, Grazyna ORCID: 0000-0002-5570-7092, Di Donato, Nataliya ORCID: 0000-0001-9439-4677, Bolz, Hanno J., Nurnberg, Peter, Skarzynski, Henryk and Oldak, Monika ORCID: 0000-0002-4216-9141 (2019). First confirmatory study on PTPRQ as an autosomal dominant non-syndromic hearing loss gene. J. Transl. Med., 17 (1). LONDON: BMC. ISSN 1479-5876

Portelli, Michael A., Siedlinski, Mateusz ORCID: 0000-0001-7682-6122, Stewart, Ceri E., Postma, Dirkje S., Nieuwenhuis, Maartje A., Vonk, Judith M., Nurnberg, Peter, Altmuller, Janine, Moffatt, Miriam F., Wardlaw, Andrew J., Parker, Stuart G., Connolly, Martin J., Koppelman, Gerard H. and Sayers, Ian ORCID: 0000-0001-5601-5410 (2014). Genome-wide protein QTL mapping identifies human plasma kallikrein as a post-translational regulator of serum uPAR levels. Faseb J., 28 (2). S. 923 - 935. BETHESDA: FEDERATION AMER SOC EXP BIOL. ISSN 1530-6860

Reynolds, John J., Bicknell, Louise S., Carroll, Paula, Higgs, Martin R., Shaheen, Ranad, Murray, Jennie E., Papadopoulos, Dimitrios K., Leitch, Andrea, Murina, Olga ORCID: 0000-0003-1650-2892, Tarnauskaite, Zygimante, Wessel, Sarah R., Zlatanou, Anastasia, Vernet, Audrey, von Kriegsheim, Alex ORCID: 0000-0002-4952-8573, Mottram, Rachel M. A., Logan, Clare V., Bye, Hannah, Li, Yun, Brean, Alexander, Maddirevula, Sateesh, Challis, Rachel C., Skouloudaki, Kassiani, Almoisheer, Agaadir, Alsaif, Hessa S., Amar, Ariella, Prescott, Natalie J., Bober, Michael B., Duker, Angela, Faqeih, Eissa, Seidahmed, Mohammed Zain, Al Tala, Saeed, Alswaid, Abdulrahman, Ahmed, Saleem, Al-Aama, Jumana Yousuf, Altmueller, Janine, Al Balwi, Mohammed ORCID: 0000-0003-2910-0390, Brady, Angela F., Chessa, Luciana, Cox, Helen, Fischetto, Rita, Heller, Raoul, Henderson, Bertram D., Hobson, Emma, Nurnberg, Peter, Percin, E. Ferda, Peron, Angela ORCID: 0000-0002-1769-6548, Spaccini, Luigina, Quigley, Alan J., Thakur, Seema, Wise, Carol A., Yoon, Grace, Alnemer, Maha, Tomancak, Pavel ORCID: 0000-0002-2222-9370, Yigit, Goekhan, Taylor, A. Malcolm R., Reijns, Martin A. M., Simpson, Michael A., Cortez, David, Alkuraya, Fowzan S., Mathew, Christopher G., Jackson, Andrew P. and Stewart, Grant S. (2017). Mutations in DONSON disrupt replication fork stability and cause microcephalic dwarfism. Nature Genet., 49 (4). S. 537 - 553. NEW YORK: NATURE PUBLISHING GROUP. ISSN 1546-1718

Scicluna, Brendon P., van Vught, Lonneke A., Zwinderman, Aeilko H., Wiewel, Maryse A., Davenport, Emma E., Burnham, Katie L., Nurnberg, Peter, Schultz, Marcus J., Horn, Janneke, Cremer, Olaf L., Bonten, Marc J., Hinds, Charles J., Wong, Hector R., Knight, Julian C. and van der Poll, Tom (2017). Classification of patients with sepsis according to blood genomic endotype: a prospective cohort study. Lancet Resp. Med., 5 (10). S. 816 - 827. OXFORD: ELSEVIER SCI LTD. ISSN 2213-2600

Vidal, Elena A., Moyano, Tomas C., Bustos, Bernabe, I, Perez-Palma, Eduardo ORCID: 0000-0003-0546-5141, Moraga, Carol, Riveras, Eleodoro, Montecinos, Alejandro, Azocar, Lorena, Soto, Daniela C., Vidal, Mabel, Di Genoval, Alex, Puschel, Klaus, Nurnberg, Peter, Buch, Stephan, Hampe, Jochen ORCID: 0000-0002-2421-6127, Allende, Miguel L., Cambiazo, Veronica, Gonzalez, Mauricio, Hodar, Christian ORCID: 0000-0001-8617-7998, Montecino, Martin, Munoz-Espinoza, Claudia, Orellana, Ariel ORCID: 0000-0002-9243-808X, Reyes-Jara, Angelica ORCID: 0000-0002-5354-4322, Travisanyl, Dante, Vizoso, Paula, Moraga, Mauricio, Eyheramendy, Susana, Maass, Alejandro ORCID: 0000-0002-7038-4527, De Ferrari, Giancarlo, V, Mique, Juan Francisco and Gutierrez, Rodrigo A. (2019). Whole Genome Sequence, Variant Discovery and Annotation in Mapuche-Huilliche Native South Americans. Sci Rep, 9. LONDON: NATURE PUBLISHING GROUP. ISSN 2045-2322

van Vught, Lonneke A., Klouwenberg, Peter M. C. Klein, Spitoni, Cristian, Scicluna, Brendon P., Wiewel, Maryse A., Horn, Janneke, Schultz, Marcus J., Nurnberg, Peter, Bonten, Marc J. M., Cremer, Olaf L. and van der Poll, Tom (2016). Incidence, Risk Factors, and Attributable Mortality of Secondary Infections in the Intensive Care Unit After Admission for Sepsis. JAMA-J. Am. Med. Assoc., 315 (14). S. 1469 - 1480. CHICAGO: AMER MEDICAL ASSOC. ISSN 1538-3598

van Vught, Lonneke A., Scicluna, Brendon P., Hoogendijk, Arie J., Wiewel, Maryse A., Klouwenberg, Peter M. C. Klein, Cremer, Olaf L., Horn, Janneke, Nurnberg, Peter, Bonten, Marc M. J., Schultz, Marcus J. and van der Poll, Tom (2016). Association of diabetes and diabetes treatment with the host response in critically ill sepsis patients. Crit. Care, 20. LONDON: BMC. ISSN 1364-8535

This list was generated on Sun May 9 04:15:16 2021 CEST.