Liver-fibrosis-activated transcriptional networks govern hepatocyte reprogramming and intra-hepatic communication
Loft, Anne, Alfaro, Ana Jimena, Schmidt, Søren Fisker, Pedersen, Felix Boel, Terkelsen, Mike Krogh, Puglia, Michele, Chow, Kan Kau, Feuchtinger, Annette, Troullinaki, Maria, Maida, Adriano, Wolff, Gretchen, Sakurai, Minako, Berutti, Riccardo, Ekim Üstünel, Bilgen, Nawroth, Peter, Ravnskjaer, Kim, Diaz, Mauricio Berriel, Blagoev, Blagoy, Herzig, Stephan
Published in Cell metabolism (03.08.2021)
Published in Cell metabolism (03.08.2021)
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Clinico-genetic findings in 509 frontotemporal dementia patients
Wagner, Matias, Lorenz, Georg, Volk, Alexander E., Brunet, Theresa, Edbauer, Dieter, Berutti, Riccardo, Zhao, Chen, Anderl-Straub, Sarah, Bertram, Lars, Danek, Adrian, Deschauer, Marcus, Dill, Veronika, Fassbender, Klaus, Fliessbach, Klaus, Götze, Katharina S., Jahn, Holger, Kornhuber, Johannes, Landwehrmeyer, Bernhard, Lauer, Martin, Obrig, Hellmuth, Prudlo, Johannes, Schneider, Anja, Schroeter, Matthias L., Uttner, Ingo, Vukovich, Ruth, Wiltfang, Jens, Winkler, Andrea S., Zhou, Qihui, Ludolph, Albert C., Oexle, Konrad, Otto, Markus, Diehl-Schmid, Janine, Winkelmann, Juliane
Published in Molecular psychiatry (01.10.2021)
Published in Molecular psychiatry (01.10.2021)
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Haploinsufficiency of KMT2B, Encoding the Lysine-Specific Histone Methyltransferase 2B, Results in Early-Onset Generalized Dystonia
Zech, Michael, Boesch, Sylvia, Maier, Esther M., Borggraefe, Ingo, Vill, Katharina, Laccone, Franco, Pilshofer, Veronika, Ceballos-Baumann, Andres, Alhaddad, Bader, Berutti, Riccardo, Poewe, Werner, Haack, Tobias B., Haslinger, Bernhard, Strom, Tim M., Winkelmann, Juliane
Published in American journal of human genetics (01.12.2016)
Published in American journal of human genetics (01.12.2016)
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Journal Article
Mitochondrial DNA mutation analysis from exome sequencing—A more holistic approach in diagnostics of suspected mitochondrial disease
Wagner, Matias, Berutti, Riccardo, Lorenz‐Depiereux, Bettina, Graf, Elisabeth, Eckstein, Gertrud, Mayr, Johannes A., Meitinger, Thomas, Ahting, Uwe, Prokisch, Holger, Strom, Tim M., Wortmann, Saskia B.
Published in Journal of inherited metabolic disease (01.09.2019)
Published in Journal of inherited metabolic disease (01.09.2019)
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Journal Article
Genetic Variants Regulating Immune Cell Levels in Health and Disease
Orrù, Valeria, Steri, Maristella, Sole, Gabriella, Sidore, Carlo, Virdis, Francesca, Dei, Mariano, Lai, Sandra, Zoledziewska, Magdalena, Busonero, Fabio, Mulas, Antonella, Floris, Matteo, Mentzen, Wieslawa I., Urru, Silvana A.M., Olla, Stefania, Marongiu, Michele, Piras, Maria G., Lobina, Monia, Maschio, Andrea, Pitzalis, Maristella, Urru, Maria F., Marcelli, Marco, Cusano, Roberto, Deidda, Francesca, Serra, Valentina, Oppo, Manuela, Pilu, Rosella, Reinier, Frederic, Berutti, Riccardo, Pireddu, Luca, Zara, Ilenia, Porcu, Eleonora, Kwong, Alan, Brennan, Christine, Tarrier, Brendan, Lyons, Robert, Kang, Hyun M., Uzzau, Sergio, Atzeni, Rossano, Valentini, Maria, Firinu, Davide, Leoni, Lidia, Rotta, Gianluca, Naitza, Silvia, Angius, Andrea, Congia, Mauro, Whalen, Michael B., Jones, Chris M., Schlessinger, David, Abecasis, Gonçalo R., Fiorillo, Edoardo, Sanna, Serena, Cucca, Francesco
Published in Cell (26.09.2013)
Published in Cell (26.09.2013)
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Journal Article
De novo variants in neurodevelopmental disorders—experiences from a tertiary care center
Brunet, Theresa, Jech, Robert, Brugger, Melanie, Kovacs, Reka, Alhaddad, Bader, Leszinski, Gloria, Riedhammer, Korbinian M., Westphal, Dominik S., Mahle, Isabella, Mayerhanser, Katharina, Skorvanek, Matej, Weber, Sandrina, Graf, Elisabeth, Berutti, Riccardo, Necpál, Ján, Havránková, Petra, Pavelekova, Petra, Hempel, Maja, Kotzaeridou, Urania, Hoffmann, Georg F., Leiz, Steffen, Makowski, Christine, Roser, Timo, Schroeder, Sebastian A., Steinfeld, Robert, Strobl‐Wildemann, Gertrud, Hoefele, Julia, Borggraefe, Ingo, Distelmaier, Felix, Strom, Tim M., Winkelmann, Juliane, Meitinger, Thomas, Zech, Michael, Wagner, Matias
Published in Clinical genetics (01.07.2021)
Published in Clinical genetics (01.07.2021)
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Journal Article
Biallelic Mutations in DNAJC12 Cause Hyperphenylalaninemia, Dystonia, and Intellectual Disability
Anikster, Yair, Haack, Tobias B., Vilboux, Thierry, Pode-Shakked, Ben, Thöny, Beat, Shen, Nan, Guarani, Virginia, Meissner, Thomas, Mayatepek, Ertan, Trefz, Friedrich K., Marek-Yagel, Dina, Martinez, Aurora, Huttlin, Edward L., Paulo, Joao A., Berutti, Riccardo, Benoist, Jean-François, Imbard, Apolline, Dorboz, Imen, Heimer, Gali, Landau, Yuval, Ziv-Strasser, Limor, Malicdan, May Christine V., Gemperle-Britschgi, Corinne, Cremer, Kirsten, Engels, Hartmut, Meili, David, Keller, Irene, Bruggmann, Rémy, Strom, Tim M., Meitinger, Thomas, Mullikin, James C., Schwartz, Gerard, Ben-Zeev, Bruria, Gahl, William A., Harper, J. Wade, Blau, Nenad, Hoffmann, Georg F., Prokisch, Holger, Opladen, Thomas, Schiff, Manuel
Published in American journal of human genetics (02.02.2017)
Published in American journal of human genetics (02.02.2017)
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Journal Article
KMT2B rare missense variants in generalized dystonia
Zech, Michael, Jech, Robert, Havránková, Petra, Fečíková, Anna, Berutti, Riccardo, Urgošík, Dušan, Kemlink, David, Strom, Tim M., Roth, Jan, Růžička, Evžen, Winkelmann, Juliane
Published in Movement disorders (01.07.2017)
Published in Movement disorders (01.07.2017)
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Journal Article
Mutations in PPCS, Encoding Phosphopantothenoylcysteine Synthetase, Cause Autosomal-Recessive Dilated Cardiomyopathy
Iuso, Arcangela, Wiersma, Marit, Schüller, Hans-Joachim, Pode-Shakked, Ben, Marek-Yagel, Dina, Grigat, Mathias, Schwarzmayr, Thomas, Berutti, Riccardo, Alhaddad, Bader, Kanon, Bart, Grzeschik, Nicola A., Okun, Jürgen G., Perles, Zeev, Salem, Yishay, Barel, Ortal, Vardi, Amir, Rubinshtein, Marina, Tirosh, Tal, Dubnov-Raz, Gal, Messias, Ana C., Terrile, Caterina, Barshack, Iris, Volkov, Alex, Avivi, Camilla, Eyal, Eran, Mastantuono, Elisa, Kumbar, Muhamad, Abudi, Shachar, Braunisch, Matthias, Strom, Tim M., Meitinger, Thomas, Hoffmann, Georg F., Prokisch, Holger, Haack, Tobias B., Brundel, Bianca J.J.M., Haas, Dorothea, Sibon, Ody C.M., Anikster, Yair
Published in American journal of human genetics (07.06.2018)
Published in American journal of human genetics (07.06.2018)
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Journal Article
MAU2 and NIPBL Variants Impair the Heterodimerization of the Cohesin Loader Subunits and Cause Cornelia de Lange Syndrome
Parenti, Ilaria, Diab, Farah, Gil, Sara Ruiz, Mulugeta, Eskeatnaf, Casa, Valentina, Berutti, Riccardo, Brouwer, Rutger W.W., Dupé, Valerie, Eckhold, Juliane, Graf, Elisabeth, Puisac, Beatriz, Ramos, Feliciano, Schwarzmayr, Thomas, Gines, Macarena Moronta, van Staveren, Thomas, van IJcken, Wilfred F.J., Strom, Tim M., Pié, Juan, Watrin, Erwan, Kaiser, Frank J., Wendt, Kerstin S.
Published in Cell reports (Cambridge) (19.05.2020)
Published in Cell reports (Cambridge) (19.05.2020)
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Journal Article
Comprehensive genetic screening of early-onset dementia patients in an Austrian cohort-suggesting new disease-contributing genes
Silvaieh, Sara, König, Theresa, Wurm, Raphael, Parvizi, Tandis, Berger-Sieczkowski, Evelyn, Goeschl, Stella, Hotzy, Christoph, Wagner, Matias, Berutti, Riccardo, Sammler, Esther, Stögmann, Elisabeth, Zimprich, Alexander
Published in Human genomics (17.06.2023)
Published in Human genomics (17.06.2023)
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Journal Article
Correction: Comprehensive genetic screening of early-onset dementia patients in an Austrian cohort-suggesting new disease-contributing genes
Silvaieh, Sara, König, Theresa, Wurm, Raphael, Parvizi, Tandis, Berger-Sieczkowski, Evelyn, Goeschl, Stella, Hotzy, Christoph, Wagner, Matias, Berutti, Riccardo, Sammler, Esther, Stögmann, Elisabeth, Zimprich, Alexander
Published in Human genomics (28.08.2023)
Published in Human genomics (28.08.2023)
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Journal Article
Recessive variants in ZNF142 cause a complex neurodevelopmental disorder with intellectual disability, speech impairment, seizures, and dystonia
Khan, Kamal, Zech, Michael, Morgan, Angela T., Amor, David J., Skorvanek, Matej, Khan, Tahir N., Hildebrand, Michael S., Jackson, Victoria E., Scerri, Thomas S., Coleman, Matthew, Rigbye, Kristin A., Scheffer, Ingrid E., Bahlo, Melanie, Wagner, Matias, Lam, Daniel D., Berutti, Riccardo, Havránková, Petra, Fečíková, Anna, Strom, Tim M., Han, Vladimir, Dosekova, Petra, Gdovinova, Zuzana, Laccone, Franco, Jameel, Muhammad, Mooney, Marie R., Baig, Shahid M., Jech, Robert, Davis, Erica E., Katsanis, Nicholas, Winkelmann, Juliane
Published in Genetics in medicine (01.11.2019)
Published in Genetics in medicine (01.11.2019)
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Journal Article
Molecular diversity of combined and complex dystonia: insights from diagnostic exome sequencing
Zech, Michael, Jech, Robert, Wagner, Matias, Mantel, Tobias, Boesch, Sylvia, Nocker, Michael, Jochim, Angela, Berutti, Riccardo, Havránková, Petra, Fečíková, Anna, Kemlink, David, Roth, Jan, Strom, Tim M., Poewe, Werner, Růžička, Evžen, Haslinger, Bernhard, Winkelmann, Juliane
Published in Neurogenetics (01.12.2017)
Published in Neurogenetics (01.12.2017)
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Journal Article
Cell cycle defects underlie childhood-onset cardiomyopathy associated with Noonan syndrome
Meier, Anna B., Raj Murthi, Sarala, Rawat, Hilansi, Toepfer, Christopher N., Santamaria, Gianluca, Schmid, Manuel, Mastantuono, Elisa, Schwarzmayr, Thomas, Berutti, Riccardo, Cleuziou, Julie, Ewert, Peter, Görlach, Agnes, Klingel, Karin, Laugwitz, Karl-Ludwig, Seidman, Christine E., Seidman, Jonathan G., Moretti, Alessandra, Wolf, Cordula M.
Published in iScience (21.01.2022)
Published in iScience (21.01.2022)
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Journal Article
High detection rate for disease-causing variants in a cohort of 30 Iranian pediatric steroid resistant nephrotic syndrome cases
Najafi, Maryam, Riedhammer, Korbinian M., Rad, Aboulfazl, Torbati, Paria Najarzadeh, Berutti, Riccardo, Schüle, Isabel, Schroda, Sophie, Meitinger, Thomas, Ćomić, Jasmina, Bojd, Simin Sadeghi, Baranzehi, Tayebeh, Shojaei, Azadeh, Azarfar, Anoush, Khazaei, Mahmood Reza, Köttgen, Anna, Backofen, Rolf, Karimiani, Ehsan Ghayoor, Hoefele, Julia, Schmidts, Miriam
Published in Frontiers in pediatrics (22.09.2022)
Published in Frontiers in pediatrics (22.09.2022)
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Journal Article
The multifaceted phenotypic and genotypic spectrum of type-IV-collagen-related nephropathy—A human genetics department experience
Ćomić, Jasmina, Riedhammer, Korbinian M., Günthner, Roman, Schaaf, Christian W., Richthammer, Patrick, Simmendinger, Hannes, Kieffer, Donald, Berutti, Riccardo, Tasic, Velibor, Abazi-Emini, Nora, Nushi-Stavileci, Valbona, Putnik, Jovana, Stajic, Nataša, Lungu, Adrian, Gross, Oliver, Renders, Lutz, Heemann, Uwe, Braunisch, Matthias C., Meitinger, Thomas, Hoefele, Julia
Published in Frontiers in medicine (31.08.2022)
Published in Frontiers in medicine (31.08.2022)
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Journal Article
SOX5-Null Heterozygous Mutation in a Family with Adult-Onset Hyperkinesia and Behavioral Abnormalities
Winkelmann, Juliane, Grisold, Wolfgang, Strom, Tim M., Berutti, Riccardo, Boesch, Sylvia, Poustka, Katharina, Zech, Michael, Poewe, Werner
Published in Case reports in genetics (01.01.2017)
Published in Case reports in genetics (01.01.2017)
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Journal Article
Guidelines for clinical interpretation of variant pathogenicity using RNA phenotypes
Smirnov, Dmitrii, Schlieben, Lea D., Peymani, Fatemeh, Berutti, Riccardo, Prokisch, Holger
Published in Human mutation (01.08.2022)
Published in Human mutation (01.08.2022)
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