Case report: Novel SCN4A variant associated with a severe congenital myasthenic syndrome/myopathy phenotype

por Berghold, Veronika M., Koko, Mahmoud, Berutti, Riccardo, Plecko, Barbara
Publicado 2022

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

por Zech, Michael, Poustka, Katharina, Boesch, Sylvia, Berutti, Riccardo, Strom, Tim M., Grisold, Wolfgang, Poewe, Werner, Winkelmann, Juliane
Publicado 2017

Challenges in Establishing the Diagnosis of PRRT2 ‐Related Dystonia: Recurrent Pathogenic Variants in a Homopolymeric Stretch

por Dzinovic, Ivana, Graf, Elisabeth, Brugger, Melanie, Berutti, Riccardo, Příhodová, Iva, Blaschek, Astrid, Winkelmann, Juliane, Jech, Robert, Vill, Katharina, Zech, Michael
Publicado 2023

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

por Francalacci, Paolo, Sanna, Daria, Useli, Antonella, Berutti, Riccardo, Barbato, Mario, Whalen, Michael B, Angius, Andrea, Sidore, Carlo, Alonso, Santos, Tofanelli, Sergio, Cucca, Francesco
Publicado 2015

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

por Zech, Michael, Lam, Daniel D., Weber, Sandrina, Berutti, Riccardo, Poláková, Kamila, Havránková, Petra, Fečíková, Anna, Strom, Tim M., Růžička, Evžen, Jech, Robert, Winkelmann, Juliane
Publicado 2018

Comprehensive genetic screening of early-onset dementia patients in an Austrian cohort-suggesting new disease-contributing genes

por 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
Publicado 2023

Correction: Comprehensive genetic screening of early-onset dementia patients in an Austrian cohort-suggesting new disease-contributing genes

por 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
Publicado 2023

Exome sequencing in individuals with congenital anomalies of the kidney and urinary tract (CAKUT): a single-center experience

por Riedhammer, Korbinian M., Ćomić, Jasmina, Tasic, Velibor, Putnik, Jovana, Abazi-Emini, Nora, Paripovic, Aleksandra, Stajic, Natasa, Meitinger, Thomas, Nushi-Stavileci, Valbona, Berutti, Riccardo, Braunisch, Matthias C., Hoefele, Julia
Publicado 2023

Multi-omics profiling identifies a deregulated FUS-MAP1B axis in ALS/FTD–associated UBQLN2 mutants

por Strohm, Laura, Hu, Zehan, Suk, Yongwon, Rühmkorf, Alina, Sternburg, Erin, Gattringer, Vanessa, Riemenschneider, Henrick, Berutti, Riccardo, Graf, Elisabeth, Weishaupt, Jochen H, Brill, Monika S, Harbauer, Angelika B, Dormann, Dorothee, Dengjel, Jörn, Edbauer, Dieter, Behrends, Christian
Publicado 2022

Cell cycle defects underlie childhood-onset cardiomyopathy associated with Noonan syndrome

por 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.
Publicado 2021

High detection rate for disease-causing variants in a cohort of 30 Iranian pediatric steroid resistant nephrotic syndrome cases

por 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
Publicado 2022

The multifaceted phenotypic and genotypic spectrum of type-IV-collagen-related nephropathy—A human genetics department experience

por 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
Publicado 2022

Episignature analysis of moderate effects and mosaics

por Oexle, Konrad, Zech, Michael, Stühn, Lara G., Siegert, Sandy, Brunet, Theresa, Schmidt, Wolfgang M., Wagner, Matias, Schmidt, Axel, Engels, Hartmut, Tilch, Erik, Monestier, Olivier, Destrėe, Anne, Hanker, Britta, Boesch, Sylvia, Jech, Robert, Berutti, Riccardo, Kaiser, Frank, Haslinger, Bernhard, Haack, Tobias B., Garavaglia, Barbara, Krawitz, Peter, Winkelmann, Juliane, Mirza-Schreiber, Nazanin
Publicado 2023

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

por 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
Publicado 2019

Clinico-genetic findings in 509 frontotemporal dementia patients

por 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
Publicado 2021

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

por 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
Publicado 2015

Sequential Defects in Cardiac Lineage Commitment and Maturation Cause Hypoplastic Left Heart Syndrome

por Krane, Markus, Dreßen, Martina, Santamaria, Gianluca, My, Ilaria, Schneider, Christine M., Dorn, Tatjana, Laue, Svenja, Mastantuono, Elisa, Berutti, Riccardo, Rawat, Hilansi, Gilsbach, Ralf, Schneider, Pedro, Lahm, Harald, Schwarz, Sascha, Doppler, Stefanie A., Paige, Sharon, Puluca, Nazan, Doll, Sophia, Neb, Irina, Brade, Thomas, Zhang, Zhong, Abou-Ajram, Claudia, Northoff, Bernd, Holdt, Lesca M., Sudhop, Stefanie, Sahara, Makoto, Goedel, Alexander, Dendorfer, Andreas, Tjong, Fleur V.Y., Rijlaarsdam, Maria E., Cleuziou, Julie, Lang, Nora, Kupatt, Christian, Bezzina, Connie, Lange, Rüdiger, Bowles, Neil E., Mann, Matthias, Gelb, Bruce D., Crotti, Lia, Hein, Lutz, Meitinger, Thomas, Wu, Sean, Sinnecker, Daniel, Gruber, Peter J., Laugwitz, Karl-Ludwig, Moretti, Alessandra
Publicado 2021

Clinical implementation of RNA sequencing for Mendelian disease diagnostics

por Yépez, Vicente A., Gusic, Mirjana, Kopajtich, Robert, Mertes, Christian, Smith, Nicholas H., Alston, Charlotte L., Ban, Rui, Beblo, Skadi, Berutti, Riccardo, Blessing, Holger, Ciara, Elżbieta, Distelmaier, Felix, Freisinger, Peter, Häberle, Johannes, Hayflick, Susan J., Hempel, Maja, Itkis, Yulia S., Kishita, Yoshihito, Klopstock, Thomas, Krylova, Tatiana D., Lamperti, Costanza, Lenz, Dominic, Makowski, Christine, Mosegaard, Signe, Müller, Michaela F., Muñoz-Pujol, Gerard, Nadel, Agnieszka, Ohtake, Akira, Okazaki, Yasushi, Procopio, Elena, Schwarzmayr, Thomas, Smet, Joél, Staufner, Christian, Stenton, Sarah L., Strom, Tim M., Terrile, Caterina, Tort, Frederic, Van Coster, Rudy, Vanlander, Arnaud, Wagner, Matias, Xu, Manting, Fang, Fang, Ghezzi, Daniele, Mayr, Johannes A., Piekutowska-Abramczuk, Dorota, Ribes, Antonia, Rötig, Agnès, Taylor, Robert W., Wortmann, Saskia B., Murayama, Kei, Meitinger, Thomas, Gagneur, Julien, Prokisch, Holger
Publicado 2022

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

por 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
Publicado 2021

Uncovering the Contribution of Moderate-Penetrance Susceptibility Genes to Breast Cancer by Whole-Exome Sequencing and Targeted Enrichment Sequencing of Candidate Genes in Women of...

por Dumont, Martine, Weber-Lassalle, Nana, Joly-Beauparlant, Charles, Ernst, Corinna, Droit, Arnaud, Feng, Bing-Jian, Dubois, Stéphane, Collin-Deschesnes, Annie-Claude, Soucy, Penny, Vallée, Maxime, Fournier, Frédéric, Lemaçon, Audrey, Adank, Muriel A., Allen, Jamie, Altmüller, Janine, Arnold, Norbert, Ausems, Margreet G. E. M., Berutti, Riccardo, Bolla, Manjeet K., Bull, Shelley, Carvalho, Sara, Cornelissen, Sten, Dufault, Michael R., Dunning, Alison M., Engel, Christoph, Gehrig, Andrea, Geurts-Giele, Willemina R. R., Gieger, Christian, Green, Jessica, Hackmann, Karl, Helmy, Mohamed, Hentschel, Julia, Hogervorst, Frans B. L., Hollestelle, Antoinette, Hooning, Maartje J., Horváth, Judit, Ikram, M. Arfan, Kaulfuß, Silke, Keeman, Renske, Kuang, Da, Luccarini, Craig, Maier, Wolfgang, Martens, John W. M., Niederacher, Dieter, Nürnberg, Peter, Ott, Claus-Eric, Peters, Annette, Pharoah, Paul D. P., Ramirez, Alfredo, Ramser, Juliane, Riedel-Heller, Steffi, Schmidt, Gunnar, Shah, Mitul, Scherer, Martin, Stäbler, Antje, Strom, Tim M., Sutter, Christian, Thiele, Holger, van Asperen, Christi J., van der Kolk, Lizet, van der Luijt, Rob B., Volk, Alexander E., Wagner, Michael, Waisfisz, Quinten, Wang, Qin, Wang-Gohrke, Shan, Weber, Bernhard H. F., Devilee, Peter, Tavtigian, Sean, Bader, Gary D., Meindl, Alfons, Goldgar, David E., Andrulis, Irene L., Schmutzler, Rita K., Easton, Douglas F., Schmidt, Marjanka K., Hahnen, Eric, Simard, Jacques
Publicado 2022