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Number of items: 14.

Adam, Ronja; Spier, Isabel; Zhao, Bixiao; Kloth, Michael; Marquez, Jonathan; Hinrichsen, Inga; Kirfel, Jutta; Tafazzoli, Aylar; Horpaopan, Sukanya; Uhlhaas, Siegfried; Stienen, Dietlinde; Friedrichs, Nicolaus; Altmüller, Janine; Laner, Andreas; Holzapfel, Stefanie; Peters, Sophia; Kayser, Katrin; Thiele, Holger; Holinski-Feder, Elke; Marra, Giancarlo; Kristiansen, Glen; Nöthen, Markus M; Büttner, Reinhard; Möslein, Gabriela; Betz, Regina C; Brieger, Angela; Lifton, Richard P; Aretz, Stefan (2016). Exome sequencing identifies biallelic MSH3 germline mutations as a recessive subtype of colorectal adenomatous polyposis. American Journal of Human Genetics, 99(2):337-351.

Tiwari, Amit; Lemke, J; Altmueller, J; Thiele, Holger; Glaus, E; Fleischhauer, J; Nürnberg, P; Neidhardt, John; Berger, Wolfgang (2016). Identification of Novel and Recurrent Disease-Causing Mutations in Retinal Dystrophies Using Whole Exome Sequencing (WES): Benefits and Limitations. PLoS ONE, 11(7):e0158692.

Ü Basmanav, F Buket; Cau, Laura; Tafazzoli, Aylar; Méchin, Marie-Claire; Wolf, Sabrina; Romano, Maria Teresa; Valentin, Frederic; Wiegmann, Henning; Huchenq, Anne; Kandil, Rima; Garcia Bartels, Natalie; Kilic, Arzu; George, Susannah; Ralser, Damian J; Bergner, Stefan; Ferguson, David J P; Oprisoreanu, Ana-Maria; Wehner, Maria; Thiele, Holger; Altmüller, Janine; Nürnberg, Peter; Swan, Daniel; Houniet, Darren; Büchner, Aline; Weibel, Lisa; Wagner, Nicola; Grimalt, Ramon; Bygum, Anette; Serre, Guy; Blume-Peytavi, Ulrike; et al (2016). Mutations in three genes encoding proteins involved in hair shaft formation cause uncombable hair syndrome. American Journal of Human Genetics, 99(6):1292-1304.

Di Donato, Nataliya; Neuhann, Teresa; Kahlert, Anne-Karin; Klink, Barbara; Hackmann, Karl; Neuhann, Irmingard; Novotna, Barbora; Schallner, Jens; Krause, Claudia; Glass, Ian A; Parnell, Shawn E; Benet-Pages, Anna; Nissen, Anke M; Berger, Wolfgang; Altmüller, Janine; Thiele, Holger; Weber, Bernhard H F; Schrock, Evelin; Dobyns, William B; Bier, Andrea; Rump, Andreas (2016). Mutations inEXOSC2are associated with a novel syndrome characterised by retinitis pigmentosa, progressive hearing loss, premature ageing, short stature, mild intellectual disability and distinctive gestalt. Journal of Medical Genetics, 53(6):419-425.

Mebazaa, Alexandre; Yilmaz, M Birhan; Levy, Phillip; Ponikowski, Piotr; Peacock, W Frank; Laribi, Said; Ristic, Arsen D; Lambrinou, Ekaterini; Masip, Josep; Riley, Jillian P; McDonagh, Theresa; Mueller, Christian; deFilippi, Christopher; Harjola, Veli-Pekka; Thiele, Holger; Piepoli, Massimo F; Metra, Marco; Maggioni, Aldo; McMurray, John J V; Dickstein, Kenneth; Damman, Kevin; Seferovic, Petar M; Ruschitzka, Frank; Leite-Moreira, Adelino F; Bellou, Abdelouahab; Anker, Stefan D; Filippatos, Gerasimos (2015). Recommendations on pre-hospital and early hospital management of acute heart failure: a consensus paper from the Heart Failure Association of the European Society of Cardiology, the European Society of Emergency Medicine and the Society of Academic Emergency Medicine - short version. European Heart Journal, 36(30):1958-1966.

Rosin, Nadine; Elcioglu, Nursel H; Beleggia, Filippo; Isgüven, Pinar; Altmüller, Janine; Thiele, Holger; Steindl, Katharina; Joset, Pascal; Rauch, Anita; Nürnberg, Peter; Wollnik, Bernd; Yigit, Gökhan (2015). Mutations in XRCC4 cause primary microcephaly, short stature and increased genomic instability. Human Molecular Genetics, 24(13):3708-3717.

Mebazaa, Alexandre; Yilmaz, M Birhan; Levy, Phillip; Ponikowski, Piotr; Peacock, W Frank; Laribi, Said; Ristic, Arsen D; Lambrinou, Ekaterini; Masip, Josep; Riley, Jillian P; McDonagh, Theresa; Mueller, Christian; deFilippi, Christopher; Harjola, Veli-Pekka; Thiele, Holger; Piepoli, Massimo F; Metra, Marco; Maggioni, Aldo; McMurray, John; Dickstein, Kenneth; Damman, Kevin; Seferovic, Petar M; Ruschitzka, Frank; Leite-Moreira, Adelino F; Bellou, Abdelouahab; Anker, Stefan D; Filippatos, Gerasimos (2015). Recommendations on pre-hospital & early hospital management of acute heart failure: a consensus paper from the Heart Failure Association of the European Society of Cardiology, the European Society of Emergency Medicine and the Society of Academic Emergency Medicine. European Journal of Heart Failure, 17(6):544-558.

Elsayed, Solaf M; Phillips, Jennifer B; Heller, Raoul; Thoenes, Michaela; Elsobky, Ezzat; Nürnberg, Gudrun; Nürnberg, Peter; Seland, Saskia; Ebermann, Inga; Altmüller, Janine; Thiele, Holger; Toliat, Mohammad; Körber, Friederike; Hu, Xue-Jia; Wu, Yun-Dong; Zaki, Maha S; Abdel-Salam, Ghada; Gleeson, Joseph; Boltshauser, Eugen; Westerfield, Monte; Bolz, Hanno J (2015). Non-manifesting AHI1 truncations indicate localized loss-of-function tolerance in a severe Mendelian disease gene. Human Molecular Genetics, 24(9):2594-2603.

Lessel, Davor; Vaz, Bruno; Halder, Swagata; Lockhart, Paul J; Marinovic-Terzic, Ivana; Lopez-Mosqueda, Jaime; Philipp, Melanie; Sim, Joe C H; Smith, Katherine R; Oehler, Judith; Cabrera, Elisa; Freire, Raimundo; Pope, Kate; Nahid, Amsha; Norris, Fiona; Leventer, Richard J; Delatycki, Martin B; Barbi, Gotthold; von Ameln, Simon; Högel, Josef; Degoricija, Marina; Fertig, Regina; Burkhalter, Martin D; Hofmann, Kay; Thiele, Holger; Altmüller, Janine; Nürnberg, Gudrun; Nürnberg, Peter; Bahlo, Melanie; Martin, George M; Aalfs, Cora M; Oshima, Junko; Terzic, Janos; Amor, David J; Dikic, Ivan; Ramadan, Kristijan; Kubisch, Christian (2014). Mutations in SPRTN cause early onset hepatocellular carcinoma, genomic instability and progeroid features. Nature Genetics, 46(11):1239-1244.

Mutschler, Jochen; Abbruzzese, Elvira; Wiedemann, Klaus; von der Goltz, Christoph; Dinter, Christina; Mobascher, Arian; Thiele, Holger; Diaz-Lacava, Amalia; Dahmen, Norbert; Gallinat, Jürgen; Majic, Tomislav; Petrovsky, Nadine; Thuerauf, Norbert; Kornhuber, Johannes; Gründer, Gerhard; Rademacher, Lena; Brinkmeyer, Juergen; Wienker, Thomas; Wagner, Michael; Winterer, Georg; Kiefer, Falk (2013). Functional polymorphism in the neuropeptide Y gene promoter (rs16147) is associated with serum leptin levels and waist-hip ratio in women. Annals of Nutrition & Metabolism, 62(4):271-276.

Wieczorek, Dagmar; Bögershausen, Nina; Beleggia, Filippo; Steiner-Haldenstätt, Sabine; Pohl, Esther; Li, Yun; Milz, Esther; Martin, Marcel; Thiele, Holger; Altmüller, Janine; Alanay, Yasemin; Kayserili, Hülya; Klein-Hitpass, Ludger; Böhringer, Stefan; Wollstein, Andreas; Albrecht, Beate; Boduroglu, Koray; Caliebe, Almuth; Chrzanowska, Krystyna; Cogulu, Ozgur; Cristofoli, Francesca; Czeschik, Johanna Christina; Devriendt, Koenraad; Dotti, Maria Teresa; Elcioglu, Nursel; Gener, Blanca; Goecke, Timm O; Krajewska-Walasek, Malgorzata; Guillén-Navarro, Encarnación; Hayek, Joussef; Houge, Gunnar; Kilic, Esra; Simsek-Kiper, Pelin Özlem; López-González, Vanesa; Kuechler, Alma; Lyonnet, Stanislas; Mari, Francesca; Marozza, Annabella; Mathieu Dramard, Michèle; Mikat, Barbara; Morin, Gilles; Morice-Picard, Fanny; Ozkinay, Ferda; Rauch, Anita; Renieri, Alessandra; Tinschert, Sigrid; Utine, G Eda; Vilain, Catheline; Vivarelli, Rossella; Zweier, Christiane; Nürnberg, Peter; Rahmann, Sven; Vermeesch, Joris; Lüdecke, Hermann-Josef; Zeschnigk, Michael; Wollnik, Bernd (2013). A comprehensive molecular study on Coffin-Siris and Nicolaides-Baraitser syndromes identifies a broad molecular and clinical spectrum converging on altered chromatin remodeling. Human Molecular Genetics, 22(25):5121-5135.

Mutschler, Jochen; Abbruzzese, Elvira; von der Goltz, Christoph; Dinter, Christina; Mobascher, Arian; Thiele, Holger; Diaz-Lacava, Amalia; Dahmen, Norbert; Gallinat, Jürgen; Majic, Tomislav; Petrovsky, Nadine; Thuerauf, Norbert; Kornhuber, Johannes; Gründer, Gerhard; Rademacher, Lena; Brinkmeyer, Juergen; Wienker, Thomas; Wagner, Michael; Winterer, Georg; Kiefer, Falk (2013). Lack of association of a functional catechol-O-methyltransferase gene polymorphism with risk of tobacco smoking: results from a multicenter case-control study. Nicotine & Tobacco Research, 15(7):1322-1327.

Lemke, Johannes R; Lal, Dennis; Reinthaler, Eva M; Steiner, Isabelle; Nothnagel, Michael; Alber, Michael; Geider, Kirsten; Laube, Bodo; Schwake, Michael; Finsterwalder, Katrin; Franke, Andre; Schilhabel, Markus; Jähn, Johanna A; Muhle, Hiltrud; Boor, Rainer; Van Paesschen, Wim; Caraballo, Roberto; Fejerman, Natalio; Weckhuysen, Sarah; De Jonghe, Peter; Larsen, Jan; Møller, Rikke S; Hjalgrim, Helle; Addis, Laura; Tang, Shan; Hughes, Elaine; Pal, Deb K; Veri, Kadi; Vaher, Ulvi; Talvik, Tiina; Dimova, Petia; Guerrero López, Rosa; Serratosa, José M; Linnankivi, Tarja; Lehesjoki, Anna-Elina; Ruf, Susanne; Wolff, Markus; Buerki, Sarah; Wohlrab, Gabriele; Kroell, Judith; Datta, Alexandre N; Fiedler, Barbara; Kurlemann, Gerhard; Kluger, Gerhard; Hahn, Andreas; Haberlandt, D Edda; Kutzer, Christina; Sperner, Jürgen; Becker, Felicitas; Weber, Yvonne G; Feucht, Martha; Steinböck, Hannelore; Neophythou, Birgit; Ronen, Gabriel M; Gruber-Sedlmayr, Ursula; Geldner, Julia; Harvey, Robert J; Hoffmann, Per; Herms, Stefan; Altmüller, Janine; Toliat, Mohammad R; Thiele, Holger; Nürnberg, Peter; Wilhelm, Christian; Stephani, Ulrich; Helbig, Ingo; Lerche, Holger; Zimprich, Fritz; Neubauer, Bernd A; Biskup, Saskia; von Spiczak, Sarah (2013). Mutations in GRIN2A cause idiopathic focal epilepsy with rolandic spikes. Nature Genetics, 45(9):1067-1072.

Coelho, David; Kim, Jaeseung C; Miousse, Isabelle R; Fung, Stephen; du Moulin, Marcel; Buers, Insa; Suormala, Terttu; Burda, Patricie; Frapolli, Michele; Stucki, Martin; Nürnberg, Peter; Thiele, Holger; Robenek, Horst; Höhne, Wolfgang; Longo, Nicola; Pasquali, Marzia; Mengel, Eugen; Watkins, David; Shoubridge, Eric A; Majewski, Jacek; Rosenblatt, David S; Fowler, Brian; Rutsch, Frank; Baumgartner, Matthias R (2012). Mutations in ABCD4 cause a new inborn error of vitamin B(12) metabolism. Nature Genetics, 44(10):1152-1155.

This list was generated on Mon Jul 24 10:08:13 2017 CEST.