A COL7A1 Mutation Causes Dystrophic Epidermolysis Bullosa in Rotes Höhenvieh Cattle

por Menoud, Annie, Welle, Monika, Tetens, Jens, Lichtner, Peter, Drögemüller, Cord
Publicado 2012

The impact of genetic relationship information on genomic breeding values in German Holstein cattle

por Habier, David, Tetens, Jens, Seefried, Franz-Reinhold, Lichtner, Peter, Thaller, Georg
Publicado 2010

Biallelic loss‐of‐function variants in RBL2 in siblings with a neurodevelopmental disorder

por Brunet, Theresa, Radivojkov‐Blagojevic, Milena, Lichtner, Peter, Kraus, Verena, Meitinger, Thomas, Wagner, Matias
Publicado 2020

A One Base Pair Deletion in the Canine ATP13A2 Gene Causes Exon Skipping and Late-Onset Neuronal Ceroid Lipofuscinosis in the Tibetan Terrier

por Wöhlke, Anne, Philipp, Ute, Bock, Patricia, Beineke, Andreas, Lichtner, Peter, Meitinger, Thomas, Distl, Ottmar
Publicado 2011

KDM2B Is Implicated in Bovine Lethal Multi-Organic Developmental Dysplasia

por Testoni, Stefania, Bartolone, Elena, Rossi, Marco, Patrignani, Andrea, Bruggmann, Rémy, Lichtner, Peter, Tetens, Jens, Gentile, Arcangelo, Drögemüller, Cord
Publicado 2012

First mitochondrial genome-wide association study with metabolomics

por Aboulmaouahib, Brahim, Kastenmüller, Gabi, Suhre, Karsten, Zöllner, Sebastian, Weissensteiner, Hansi, Prehn, Cornelia, Adamski, Jerzy, Gieger, Christian, Wang-Sattler, Rui, Lichtner, Peter, Strauch, Konstantin, Flaquer, Antònia
Publicado 2021

Accurate tumor purity determination is critical for the analysis of homologous recombination deficiency (HRD)

por Menzel, Michael, Endris, Volker, Schwab, Constantin, Kluck, Klaus, Neumann, Olaf, Beck, Susanne, Ball, Markus, Schaaf, Christian, Fröhling, Stefan, Lichtner, Peter, Schirmacher, Peter, Kazdal, Daniel, Stenzinger, Albrecht, Budczies, Jan
Publicado 2023

Lack of association of genetic variants in genes of the endocannabinoid system with anorexia nervosa

por Müller, Timo Dirk, Reichwald, Kathrin, Brönner, Günter, Kirschner, Jeanette, Nguyen, Thuy Trang, Scherag, André, Herzog, Wolfgang, Herpertz-Dahlmann, Beate, Lichtner, Peter, Meitinger, Thomas, Platzer, Matthias, Schäfer, Helmut, Hebebrand, Johannes, Hinney, Anke
Publicado 2008

Identification of novel Angiogenin (ANG) gene missense variants in German patients with amyotrophic lateral sclerosis

por Fernández-Santiago, Rubén, Hoenig, Sabine, Lichtner, Peter, Sperfeld, Anne-Dorte, Sharma, Manu, Berg, Daniela, Weichenrieder, Oliver, Illig, Thomas, Eger, Katharina, Meyer, Thomas, Anneser, Johanna, Münch, Christoph, Zierz, Stephan, Gasser, Thomas, Ludolph, Albert
Publicado 2009

EGFR and MMP-9 are associated with neointimal hyperplasia in systemic-to-pulmonary shunts in children with complex cyanotic heart disease

por Kottmann, Philip, Eildermann, Katja, Murthi, Sarala Raj, Cleuziou, Julie, Lemmer, Julia, Vitanova, Keti, von Stumm, Maria, Lehmann, Luisa, Hörer, Jürgen, Ewert, Peter, Sigler, Matthias, Lange, Rüdiger, Lahm, Harald, Dreßen, Martina, Lichtner, Peter, Wolf, Cordula M.
Publicado 2023

Suggestive evidence for linkage for restless legs syndrome on chromosome 19p13

por Kemlink, David, Plazzi, Giuseppe, Vetrugno, Roberto, Provini, Federica, Polo, Olli, Stiasny-Kolster, Karin, Oertel, Wolfgang, Nevsimalova, Sona, Sonka, Karel, Högl, Birgit, Frauscher, Birgit, Hadjigeorgiou, Georgios M., Pramstaller, Peter P., Lichtner, Peter, Meitinger, Thomas, Müller-Myshok, Bertram, Winkelmann, Juliane, Montagna, Pasquale
Publicado 2008

MEIS1 and BTBD9: genetic association with restless leg syndrome in end stage renal disease

por Schormair, Barbara, Plag, Jens, Kaffe, Maria, Groß, Nadine, Czamara, Darina, Samtleben, Walter, Lichtner, Peter, Ströhle, Andreas, Stefanidis, Ioannis, Vainas, Andreas, Dardiotis, Efthimios, Sakkas, George K, Gieger, Christian, Müller-Myhsok, Bertram, Meitinger, Thomas, Heemann, Uwe, Hadjigeorgiou, Georgios M, Oexle, Konrad, Winkelmann, Juliane
Publicado 2011

Rare Variants in PLXNA4 and Parkinson’s Disease

por Schulte, Eva C., Stahl, Immanuel, Czamara, Darina, Ellwanger, Daniel C., Eck, Sebastian, Graf, Elisabeth, Mollenhauer, Brit, Zimprich, Alexander, Lichtner, Peter, Haubenberger, Dietrich, Pirker, Walter, Brücke, Thomas, Bereznai, Benjamin, Molnar, Maria J., Peters, Annette, Gieger, Christian, Müller-Myhsok, Bertram, Trenkwalder, Claudia, Winkelmann, Juliane
Publicado 2013

Niemann-Pick C Disease Gene Mutations and Age-Related Neurodegenerative Disorders

por Zech, Michael, Nübling, Georg, Castrop, Florian, Jochim, Angela, Schulte, Eva C., Mollenhauer, Brit, Lichtner, Peter, Peters, Annette, Gieger, Christian, Marquardt, Thorsten, Vanier, Marie T., Latour, Philippe, Klünemann, Hans, Trenkwalder, Claudia, Diehl-Schmid, Janine, Perneczky, Robert, Meitinger, Thomas, Oexle, Konrad, Haslinger, Bernhard, Lorenzl, Stefan, Winkelmann, Juliane
Publicado 2013

Mutations in RHOT1 Disrupt Endoplasmic Reticulum–Mitochondria Contact Sites Interfering with Calcium Homeostasis and Mitochondrial Dynamics in Parkinson's Disease

por Grossmann, Dajana, Berenguer-Escuder, Clara, Bellet, Marie Estelle, Scheibner, David, Bohler, Jill, Massart, Francois, Rapaport, Doron, Skupin, Alexander, Fouquier d'Hérouël, Aymeric, Sharma, Manu, Ghelfi, Jenny, Raković, Aleksandar, Lichtner, Peter, Antony, Paul, Glaab, Enrico, May, Patrick, Dimmer, Kai Stefan, Fitzgerald, Julia Catherine, Grünewald, Anne, Krüger, Rejko
Publicado 2019

Novel SCARB2 mutation in action myoclonus-renal failure syndrome and evaluation of SCARB2 mutations in isolated AMRF features

por Hopfner, Franziska, Schormair, Barbara, Knauf, Franziska, Berthele, Achim, Tölle, Thomas R, Baron, Ralf, Maier, Christoph, Treede, Rolf-Detlef, Binder, Andreas, Sommer, Claudia, Maihöfner, Christian, Kunz, Wolfram, Zimprich, Friedrich, Heemann, Uwe, Pfeufer, Arne, Näbauer, Michael, Kääb, Stefan, Nowak, Barbara, Gieger, Christian, Lichtner, Peter, Trenkwalder, Claudia, Oexle, Konrad, Winkelmann, Juliane
Publicado 2011

Rare variants in LRRK1 and Parkinson's disease

por Schulte, Eva C., Ellwanger, Daniel C., Dihanich, Sybille, Manzoni, Claudia, Stangl, Katrin, Schormair, Barbara, Graf, Elisabeth, Eck, Sebastian, Mollenhauer, Brit, Haubenberger, Dietrich, Pirker, Walter, Zimprich, Alexander, Brücke, Thomas, Lichtner, Peter, Peters, Annette, Gieger, Christian, Trenkwalder, Claudia, Mewes, Hans-Werner, Meitinger, Thomas, Lewis, Patrick A., Klünemann, Hans H., Winkelmann, Juliane
Publicado 2013

Phylogenetic diversity and historical patterns of pandemic spread of Yersinia pestis

por Morelli, Giovanna, Song, Yajun, Mazzoni, Camila J., Eppinger, Mark, Roumagnac, Philippe, Wagner, David M., Feldkamp, Mirjam, Kusecek, Barica, Vogler, Amy J., Li, Yanjun, Cui, Yujun, Thomson, Nicholas R., Jombart, Thibaut, Leblois, Raphael, Lichtner, Peter, Rahalison, Lila, Petersen, Jeannine M., Balloux, Francois, Keim, Paul, Wirth, Thierry, Ravel, Jacques, Yang, Ruifu, Carniel, Elisabeth, Achtman, Mark
Publicado 2010

Blood cis-eQTL Analysis Fails to Identify Novel Association Signals among Sub-Threshold Candidates from Genome-Wide Association Studies in Restless Legs Syndrome

por Schulte, Eva C., Schramm, Katharina, Schurmann, Claudia, Lichtner, Peter, Herder, Christian, Roden, Michael, Gieger, Christian, Peters, Annette, Trenkwalder, Claudia, Högl, Birgit, Frauscher, Birgit, Berger, Klaus, Fietze, Ingo, Gross, Nadine, Stiasny-Kolster, Karin, Oertel, Wolfgang, Bachmann, Cornelius G., Paulus, Walter, Zimprich, Alexander, Völzke, Henry, Schminke, Ulf, Nauck, Matthias, Illig, Thomas, Meitinger, Thomas, Müller-Myhsok, Bertram, Prokisch, Holger, Winkelmann, Juliane
Publicado 2014

Genetic determinants of the humoral immune response in MS

por Gasperi, Christiane, Andlauer, Till F.M., Keating, Ana, Knier, Benjamin, Klein, Ana, Pernpeintner, Verena, Lichtner, Peter, Gold, Ralf, Zipp, Frauke, Then Bergh, Florian, Stangel, Martin, Tumani, Hayrettin, Wildemann, Brigitte, Wiendl, Heinz, Bayas, Antonios, Kümpfel, Tania, Zettl, Uwe K., Linker, Ralf A., Ziemann, Ulf, Knop, Matthias, Warnke, Clemens, Friese, Manuel A., Paul, Friedemann, Tackenberg, Björn, Berthele, Achim, Hemmer, Bernhard
Publicado 2020