SOX5-Null Heterozygous Mutation in a Family with Adult-Onset Hyperkinesia and Behavioral Abnormalities

由 Zech, Michael, Poustka, Katharina, Boesch, Sylvia, Berutti, Riccardo, Strom, Tim M., Grisold, Wolfgang, Poewe, Werner, Winkelmann, Juliane
發表在 Case Rep Genet (2017)

Detection of phylogenetically informative polymorphisms in the entire euchromatic portion of human Y chromosome from a Sardinian sample

由 Francalacci, Paolo, Sanna, Daria, Useli, Antonella, Berutti, Riccardo, Barbato, Mario, Whalen, Michael B, Angius, Andrea, Sidore, Carlo, Alonso, Santos, Tofanelli, Sergio, Cucca, Francesco
發表在 BMC Res Notes (2015)

A unique de novo gain-of-function variant in CAMK4 associated with intellectual disability and hyperkinetic movement disorder

由 Zech, Michael, Lam, Daniel D., Weber, Sandrina, Berutti, Riccardo, Poláková, Kamila, Havránková, Petra, Fečíková, Anna, Strom, Tim M., Růžička, Evžen, Jech, Robert, Winkelmann, Juliane
發表在 Cold Spring Harb Mol Case Stud (2018)

Haploinsufficiency of KMT2B, Encoding the Lysine-Specific Histone Methyltransferase 2B, Results in Early-Onset Generalized Dystonia

由 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
發表在 Am J Hum Genet (2016)

Bi-allelic Truncating Mutations in TANGO2 Cause Infancy-Onset Recurrent Metabolic Crises with Encephalocardiomyopathy

由 Kremer, Laura S., Distelmaier, Felix, Alhaddad, Bader, Hempel, Maja, Iuso, Arcangela, Küpper, Clemens, Mühlhausen, Chris, Kovacs-Nagy, Reka, Satanovskij, Robin, Graf, Elisabeth, Berutti, Riccardo, Eckstein, Gertrud, Durbin, Richard, Sauer, Sascha, Hoffmann, Georg F., Strom, Tim M., Santer, René, Meitinger, Thomas, Klopstock, Thomas, Prokisch, Holger, Haack, Tobias B.
發表在 Am J Hum Genet (2016)

Recessive variants in ZNF142 cause a complex neurodevelopmental disorder with intellectual disability, speech impairment, seizures, and dystonia

由 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
發表在 Genet Med (2019)

Absence of the Autophagy Adaptor SQSTM1/p62 Causes Childhood-Onset Neurodegeneration with Ataxia, Dystonia, and Gaze Palsy

由 Haack, Tobias B., Ignatius, Erika, Calvo-Garrido, Javier, Iuso, Arcangela, Isohanni, Pirjo, Maffezzini, Camilla, Lönnqvist, Tuula, Suomalainen, Anu, Gorza, Matteo, Kremer, Laura S., Graf, Elisabeth, Hartig, Monika, Berutti, Riccardo, Paucar, Martin, Svenningsson, Per, Stranneheim, Henrik, Brandberg, Göran, Wedell, Anna, Kurian, Manju A., Hayflick, Susan A., Venco, Paola, Tiranti, Valeria, Strom, Tim M., Dichgans, Martin, Horvath, Rita, Holinski-Feder, Elke, Freyer, Christoph, Meitinger, Thomas, Prokisch, Holger, Senderek, Jan, Wredenberg, Anna, Carroll, Christopher J., Klopstock, Thomas
發表在 Am J Hum Genet (2016)

Low-Pass DNA Sequencing of 1200 Sardinians Reconstructs European Y-Chromosome Phylogeny

由 Francalacci, Paolo, Morelli, Laura, Angius, Andrea, Berutti, Riccardo, Reinier, Frederic, Atzeni, Rossano, Pilu, Rosella, Busonero, Fabio, Maschio, Andrea, Zara, Ilenia, Sanna, Daria, Useli, Antonella, Urru, Maria Francesca, Marcelli, Marco, Cusano, Roberto, Oppo, Manuela, Zoledziewska, Magdalena, Pitzalis, Maristella, Deidda, Francesca, Porcu, Eleonora, Poddie, Fausto, Kang, Hyun Min, Lyons, Robert, Tarrier, Brendan, Gresham, Jennifer Bragg, Li, Bingshan, Tofanelli, Sergio, Alonso, Santos, Dei, Mariano, Lai, Sandra, Mulas, Antonella, Whalen, Michael B., Uzzau, Sergio, Jones, Chris, Schlessinger, David, Abecasis, Gonçalo R., Sanna, Serena, Sidore, Carlo, Cucca, Francesco
發表在 Science (2013)

Bi-allelic ADPRHL2 Mutations Cause Neurodegeneration with Developmental Delay, Ataxia, and Axonal Neuropathy

由 Danhauser, Katharina, Alhaddad, Bader, Makowski, Christine, Piekutowska-Abramczuk, Dorota, Syrbe, Steffen, Gomez-Ospina, Natalia, Manning, Melanie A., Kostera-Pruszczyk, Anna, Krahn-Peper, Claudia, Berutti, Riccardo, Kovács-Nagy, Reka, Gusic, Mirjana, Graf, Elisabeth, Laugwitz, Lucia, Röblitz, Michaela, Wroblewski, Andreas, Hartmann, Hans, Das, Anibh M., Bültmann, Eva, Fang, Fang, Xu, Manting, Schatz, Ulrich A., Karall, Daniela, Zellner, Herta, Haberlandt, Edda, Feichtinger, René G., Mayr, Johannes A., Meitinger, Thomas, Prokisch, Holger, Strom, Tim M., Płoski, Rafał, Hoffmann, Georg F., Pronicki, Maciej, Bonnen, Penelope E., Morlot, Susanne, Haack, Tobias B.
發表在 Am J Hum Genet (2018)

Genome sequencing elucidates Sardinian genetic architecture and augments association analyses for lipid and blood inflammatory markers

由 Sidore, Carlo, Busonero, Fabio, Maschio, Andrea, Porcu, Eleonora, Naitza, Silvia, Zoledziewska, Magdalena, Mulas, Antonella, Pistis, Giorgio, Steri, Maristella, Danjou, Fabrice, Kwong, Alan, Ortega del Vecchyo, Vicente Diego, Chiang, Charleston W. K., Bragg-Gresham, Jennifer, Pitzalis, Maristella, Nagaraja, Ramaiah, Tarrier, Brendan, Brennan, Christine, Uzzau, Sergio, Fuchsberger, Christian, Atzeni, Rossano, Reinier, Frederic, Berutti, Riccardo, Huang, Jie, Timpson, Nicholas J, Toniolo, Daniela, Gasparini, Paolo, Malerba, Giovanni, Dedoussis, George, Zeggini, Eleftheria, Soranzo, Nicole, Jones, Chris, Lyons, Robert, Angius, Andrea, Kang, Hyun M., Novembre, John, Sanna, Serena, Schlessinger, David, Cucca, Francesco, Abecasis, Gonçalo R
發表在 Nat Genet (2015)

Mutations in PPCS, Encoding Phosphopantothenoylcysteine Synthetase, Cause Autosomal-Recessive Dilated Cardiomyopathy

由 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
發表在 Am J Hum Genet (2018)

Biallelic Mutations in DNAJC12 Cause Hyperphenylalaninemia, Dystonia, and Intellectual Disability

由 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
發表在 Am J Hum Genet (2017)

Genetic Variants Regulating Immune Cell Levels in Health and Disease

由 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
發表在 Cell (2013)

Impaired complex I repair causes recessive Leber’s hereditary optic neuropathy

由 Stenton, Sarah L., Sheremet, Natalia L., Catarino, Claudia B., Andreeva, Natalia A., Assouline, Zahra, Barboni, Piero, Barel, Ortal, Berutti, Riccardo, Bychkov, Igor, Caporali, Leonardo, Capristo, Mariantonietta, Carbonelli, Michele, Cascavilla, Maria L., Charbel Issa, Peter, Freisinger, Peter, Gerber, Sylvie, Ghezzi, Daniele, Graf, Elisabeth, Heidler, Juliana, Hempel, Maja, Heon, Elise, Itkis, Yulya S., Javasky, Elisheva, Kaplan, Josseline, Kopajtich, Robert, Kornblum, Cornelia, Kovacs-Nagy, Reka, Krylova, Tatiana D., Kunz, Wolfram S., La Morgia, Chiara, Lamperti, Costanza, Ludwig, Christina, Malacarne, Pedro F., Maresca, Alessandra, Mayr, Johannes A., Meisterknecht, Jana, Nevinitsyna, Tatiana A., Palombo, Flavia, Pode-Shakked, Ben, Shmelkova, Maria S., Strom, Tim M., Tagliavini, Francesca, Tzadok, Michal, van der Ven, Amelie T., Vignal-Clermont, Catherine, Wagner, Matias, Zakharova, Ekaterina Y., Zhorzholadze, Nino V., Rozet, Jean-Michel, Carelli, Valerio, Tsygankova, Polina G., Klopstock, Thomas, Wittig, Ilka, Prokisch, Holger
發表在 J Clin Invest (2021)

Monogenic variants in dystonia: an exome-wide sequencing study

由 Zech, Michael, Jech, Robert, Boesch, Sylvia, Škorvánek, Matej, Weber, Sandrina, Wagner, Matias, Zhao, Chen, Jochim, Angela, Necpál, Ján, Dincer, Yasemin, Vill, Katharina, Distelmaier, Felix, Stoklosa, Malgorzata, Krenn, Martin, Grunwald, Stephan, Bock-Bierbaum, Tobias, Fečíková, Anna, Havránková, Petra, Roth, Jan, Příhodová, Iva, Adamovičová, Miriam, Ulmanová, Olga, Bechyně, Karel, Danhofer, Pavlína, Veselý, Branislav, Haň, Vladimír, Pavelekova, Petra, Gdovinová, Zuzana, Mantel, Tobias, Meindl, Tobias, Sitzberger, Alexandra, Schröder, Sebastian, Blaschek, Astrid, Roser, Timo, Bonfert, Michaela V., Haberlandt, Edda, Plecko, Barbara, Leineweber, Birgit, Berweck, Steffen, Herberhold, Thomas, Langguth, Berthold, Švantnerová, Jana, Minár, Michal, Ramos-Rivera, Gonzalo Alonso, Wojcik, Monica H., Pajusalu, Sander, Õunap, Katrin, Schatz, Ulrich A., Pölsler, Laura, Milenkovic, Ivan, Laccone, Franco, Pilshofer, Veronika, Colombo, Roberto, Patzer, Steffi, Iuso, Arcangela, Vera, Julia, Troncoso, Monica, Fang, Fang, Prokisch, Holger, Wilbert, Friederike, Eckenweiler, Matthias, Graf, Elisabeth, Westphal, Dominik S., Riedhammer, Korbinian M., Brunet, Theresa, Alhaddad, Bader, Berutti, Riccardo, Strom, Tim M., Hecht, Martin, Baumann, Matthias, Wolf, Marc, Telegrafi, Aida, Person, Richard E., Millan Zamora, Francisca, Henderson, Lindsay B., Weise, David, Musacchio, Thomas, Volkmann, Jens, Szuto, Anna, Becker, Jessica, Cremer, Kirsten, Sycha, Thomas, Zimprich, Fritz, Kraus, Verena, Makowski, Christine, Gonzalez-Alegre, Pedro, Bardakjian, Tanya M., Ozelius, Laurie J., Vetro, Annalisa, Guerrini, Renzo, Maier, Esther, Borggraefe, Ingo, Kuster, Alice, Wortmann, Saskia B., Hackenberg, Annette, Steinfeld, Robert, Assmann, Birgit, Staufner, Christian, Opladen, Thomas, Růžička, Evžen, Cohn, Ronald D., Dyment, David, Chung, Wendy K., Engels, Hartmut, Ceballos-Baumann, Andres, Ploski, Rafal, Daumke, Oliver, Haslinger, Bernhard, Mall, Volker, Oexle, Konrad, Winkelmann, Juliane
發表在 Lancet Neurol (2020)