Browsing 8 Zentrale, interfakultäre und fakultätsübergreifende Einrichtungen by Author "Haack, Tobias"

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Browsing 8 Zentrale, interfakultäre und fakultätsübergreifende Einrichtungen by Author "Haack, Tobias"

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  • Heterozygous UCHL1 loss-of-function variants cause a neurodegenerative disorder with spasticity, ataxia, neuropathy, and optic atrophy
    Park, Joohyun; Tucci, Arianna; Cipriani, Valentina; Demidov, German; Rocca, Clarissa; Senderek, Jan; Butryn, Michaela; Velic, Ana; Lam, Tanya; Galanaki, Evangelia; Cali, Elisa; Vestito, Letizia; Maroofian, Reza; Deininger, Natalie; Rautenberg, Maren; Admard, Jakob; Hahn, Gesa-Astrid; Bartels, Claudius; van Os, Nienke J. H.; Horvath, Rita; Chinnery, Patrick F.; Tiet, May Yung; Hewamadduma, Channa; Hadjivassiliou, Marios; Tofaris, George K.; Wood, Nicholas W.; Hayer, Stefanie N.; Bender, Friedemann; Menden, Benita; Cordts, Isabell; Klein, Katrin; Huu Phuc Nguyen; Krauss, Joachim K.; Blahak, Christian; Strom, Tim M.; Sturm, Marc; van de Warrenburg, Bart; Lerche, Holger; Macek, Boris; Synofzik, Matthis; Ossowski, Stephan; Timmann, Dagmar; Wolf, Marc E.; Smedley, Damian; Riess, Olaf; Schoels, Ludger; Houlden, Henry; Haack, Tobias B.; Hengel, Holger (2022)
  • HNRNPC haploinsufficiency affects alternative splicing of intellectual disability-associated genes and causes a neurodevelopmental disorder
    Niggl, Eva; Bouman, Arjan; Briere, Lauren C.; Hoogenboezem, Remco M.; Wallaard, Ilse; Park, Joohyun; Admard, Jakob; Wilke, Martina; Harris-Mostert, Emilio D. R. O.; Elgersma, Minetta; Bain, Jennifer; Balasubramanian, Meena; Banka, Siddharth; Benke, Paul J.; Bertrand, Miriam; Blesson, Alyssa E.; Clayton-Smith, Jill; Ellingford, Jamie M.; Gillentine, Madelyn A.; Goodloe, Dana H.; Haack, Tobias B.; Jain, Mahim; Krantz, Ian; Luu, Sharon M.; McPheron, Molly; Muss, Candace L.; Raible, Sarah E.; Robin, Nathaniel H.; Spiller, Michael; Starling, Susan; Sweetser, David A.; Thiffault, Isabelle; Vetrini, Francesco; Witt, Dennis; Woods, Emily; Genomics England Res Consortium, Ype; Undiagnosed Dis Network, Annelot C. M. van; Elgersma, Ype; van Esbroeck, Annelot C. M. (2023)
  • Identification and characterisation of pathogenic and non-pathogenic FGF14 repeat expansions
    Mohren, Lars; Erdlenbruch, Friedrich; Leito, Elsa; Kilpert, Fabian; Hoenes, G. Sebastian; Kaya, Sabine; Schroeder, Christopher; Thieme, Andreas; Sturm, Marc; Park, Joohyun; Schlueter, Agatha; Ruiz, Montserrat; Morales de la Prida, Moises; Casasnovas, Carlos; Becker, Kerstin; Roggenbuck, Ulla; Pechlivanis, Sonali; Kaiser, Frank J.; Synofzik, Matthis; Wirth, Thomas; Anheim, Mathieu; Haack, Tobias B.; Lockhart, Paul J.; Joeckel, Karl-Heinz; Pujol, Aurora; Klebe, Stephan; Timmann, Dagmar; Depienne, Christel (2024)
  • Lessons Learned from Translating Genome Sequencing to Clinical Routine: Understanding the Accuracy of a Diagnostic Pipeline
    Park, Joohyun; Sturm, Marc; Seibel-Kelemen, Olga; Ossowski, Stephan; Haack, Tobias B.; Witsch-Baumgartner, Martina; Muehlegger, Beatrix (2024)
  • Loss of symmetric cell division of apical neural progenitors drives DENND5A-related developmental and epileptic encephalopathy
    Banks, Emily; Francis, Vincent; Lin, Sheng-Jia; Kharfallah, Fares; Fonov, Vladimir; Levesque, Maxime; Han, Chanshuai; Kulasekaran, Gopinath; Tuznik, Marius; Bayati, Armin; Al-Khater, Reem; Alkuraya, Fowzan S.; Argyriou, Loukas; Babaei, Meisam; Bahlo, Melanie; Bakhshoodeh, Behnoosh; Barr, Eileen; Bartik, Lauren; Bassiony, Mahmoud; Bertrand, Miriam; Braun, Dominique; Buchert, Rebecca; Budetta, Mauro; Cadieux-Dion, Maxime; Calame, Daniel G.; Cope, Heidi; Cushing, Donna; Efthymiou, Stephanie; Abd Elmaksoud, Marwa; El Said, Huda G.; Froukh, Tawfiq; Gill, Harinder K.; Gleeson, Joseph G.; Gogoll, Laura; Goh, Elaine S-Y; Gowda, Vykuntaraju K.; Haack, Tobias B.; Hashem, Mais O.; Hauser, Stefan; Hoffman, Trevor L.; Hogue, Jacob S.; Hosokawa, Akimoto; Houlden, Henry; Huang, Kevin; Huynh, Stephanie; Karimiani, Ehsan G.; Kaulfuss, Silke; Korenke, G. Christoph; Kritzer, Amy; Lee, Hane; Lupski, James R.; Marco, Elysa J.; McWalter, Kirsty; Minassian, Arakel; Minassian, Berge A.; Murphy, David; Neira-Fresneda, Juanita; Northrup, Hope; Nyaga, Denis M.; Oehl-Jaschkowitz, Barbara; Osmond, Matthew; Person, Richard; Pehlivan, Davut; Petree, Cassidy; Sadleir, Lynette G.; Saunders, Carol; Schoels, Ludger; Shashi, Vandana; Spillmann, Rebecca C.; Srinivasan, Varunvenkat M.; Torbati, Paria N.; Tos, Tulay; Network, Undiagnosed Diseases; Zaki, Maha S.; Zhou, Dihong; Zweier, Christiane; Trempe, Jean-Francois; Durcan, Thomas M.; Gan-Or, Ziv; Avoli, Massimo; Alves, Cesar; Varshney, Gaurav K.; Maroofian, Reza; Rudko, David A.; McPherson, Peter S. (2024)
  • Multicentric pilot study to standardize clinical whole exome sequencing (WES) for cancer patients
    Menzel, Michael; Ossowski, Stephan; Kral, Sebastian; Metzger, Patrick; Horak, Peter; Marienfeld, Ralf; Boerries, Melanie; Wolter, Steffen; Ball, Markus; Neumann, Olaf; Armeanu-Ebinger, Sorin; Schroeder, Christopher; Matysiak, Uta; Goldschmid, Hannah; Schipperges, Vincent; Fuerstberger, Axel; Allgaeuer, Michael; Eberhardt, Timo; Niewoehner, Jakob; Blaumeiser, Andreas; Ploeger, Carolin; Haack, Tobias Bernd; Tay, Timothy Kwang Yong; Kelemen, Olga; Pauli, Thomas; Kirchner, Martina; Kluck, Klaus; Ott, Alexander; Renner, Marcus; Admard, Jakob; Gschwind, Axel; Lassmann, Silke; Kestler, Hans; Fend, Falko; Illert, Anna Lena; Werner, Martin; Moeller, Peter; Seufferlein, Thomas Theodor Werner; Malek, Nisar; Schirmacher, Peter; Froehling, Stefan; Kazdal, Daniel; Budczies, Jan; Stenzinger, Albrecht (2023)
  • Natural History, Phenotypic Spectrum, and Discriminative Features of Multisystemic RFC1 Disease
    Traschutz, Andreas; Cortese, Andrea; Reich, Selina; Dominik, Natalia; Faber, Jennifer; Jacobi, Heike; Hartmann, Annette M.; Rujescu, Dan; Montaut, Solveig; Echaniz-Laguna, Andoni; Erer, Sevda; Schutz, Valerie Cornelia; Tarnutzer, Alexander A.; Sturm, Marc; Haack, Tobias B.; Vaucamps-Diedhiou, Nadege; Puccio, Helene; Schols, Ludger; Klockgether, Thomas; van de Warrenburg, Bart P.; Paucar, Martin; Timmann, Dagmar; Hilgers, Ralf-Dieter; Gazulla, Jose; Strupp, Michael; Moris, German; Filla, Alessandro; Houlden, Henry; Anheim, Mathieu; Infante, Jon; Basak, A. Nazli; Synofzik, Matthis (2021)
  • Ophthalmic and Genetic Features of Bardet Biedl Syndrome in a German Cohort
    Nasser, Fadi; Kohl, Susanne; Kurtenbach, Anne; Kempf, Melanie; Biskup, Saskia; Zuleger, Theresia; Haack, Tobias B.; Weisschuh, Nicole; Stingl, Katarina; Zrenner, Eberhart (2022)
  • Pitfalls in Genetic Diagnostics: Why Phenotyping is Essential
    Gburek-Augustat, Janina; Schoene-Bake, Jan-Christoph; Bueltmann, Eva; Haack, Tobias; Buchert, Rebecca; Synofzik, Matthis; Biskup, Saskia; Feuerhake, Friedrich; Sorge, Ina; Hartmann, Hans (2021)
  • Progressive deafness-dystonia due to SERAC1 mutations: A study of 67 cases
    Maas, Roeltje R.; Iwanicka-Pronicka, Katarzyna; Ucar, Sema Kalkan; Alhaddad, Bader; AlSayed, Moeenaldeen; Al-Owain, Mohammed A.; Al-Zaidan, Hamad I.; Balasubramaniam, Shanti; Baric, Ivo; Bubshait, Dalal K.; Burlina, Alberto; Christodoulou, John; Chung, Wendy K.; Colombo, Roberto; Darin, Niklas; Freisinger, Peter; Garcia Silva, Maria Teresa; Grunewald, Stephanie; Haack, Tobias B.; van Hasselt, Peter M.; Hikmat, Omar; Hoerster, Friederike; Isohanni, Pirjo; Ramzan, Khushnooda; Kovacs-Nagy, Reka; Krumina, Zita; Martin-Hernandez, Elena; Mayr, Johannes A.; McClean, Patricia; De Meirleir, Linda; Naess, Karin; Ngu, Lock H.; Pajdowska, Magdalena; Rahman, Shamima; Riordan, Gillian; Riley, Lisa; Roeben, Benjamin; Rutsch, Frank; Santer, Rene; Schiff, Manuel; Seders, Martine; Sequeira, Silvia; Sperl, Wolfgang; Staufner, Christian; Synofzik, Matthis; Taylor, Robert W.; Trubicka, Joanna; Tsiakas, Konstantinos; Unal, Ozlem; Wassmer, Evangeline; Wedatilake, Yehani; Wolff, Toni; Prokisch, Holger; Morava, Eva; Pronicka, Ewa; Wevers, Ron A.; de Brouwer, Arjan P.; Wortmann, Saskia B. (2017)
  • SOPH syndrome in three affected individuals showing similarities with progeroid cutis laxa conditions in early infancy
    Fischer-Zirnsak, Bjoern; Koenig, Rainer; Alisch, Franz; Gunes, Nilay; Hausser, Ingrid; Saha, Namrata; Beck-Woedl, Stefanie; Haack, Tobias B.; Thiel, Christian; Kamrath, Clemens; Tuysuz, Beyhan; Henning, Stephan; Mundlos, Stefan; Hoffmann, Katrin; Horn, Denise; Kornak, Uwe (2019)
  • Systematic assessment of COVID-19 host genetics using whole genome sequencing data
    Schmidt, Axel; Casadei, Nicolas; Brand, Fabian; Demidov, German; Vojgani, Elaheh; Abolhassani, Ayda; Aldisi, Rana; Butler-Laporte, Guillaume; Alawathurage, T. Madhusankha; Augustin, Max; Bals, Robert; Bellinghausen, Carla; Berger, Marc Moritz; Bitzer, Michael; Bode, Christian; Boos, Jannik; Brenner, Thorsten; Cornely, Oliver A.; Eggermann, Thomas; Erber, Johanna; Feldt, Torsten; Fuchsberger, Christian; Gagneur, Julien; Goepel, Siri; Haack, Tobias; Haeberle, Helene; Hanses, Frank; Heggemann, Julia; Hehr, Ute; Hellmuth, Johannes C.; Herr, Christian; Hinney, Anke; Hoffmann, Per; Illig, Thomas; Jensen, Bjoern-Erik Ole; Keitel, Verena; Kim-Hellmuth, Sarah; Koehler, Philipp; Kurth, Ingo; Lanz, Anna-Lisa; Latz, Eicke; Lehmann, Clara; Luedde, Tom; Maj, Carlo; Mian, Michael; Miller, Abigail; Muenchhoff, Maximilian; Pink, Isabell; Protzer, Ulrike; Rohn, Hana; Rybniker, Jan; Scaggiante, Federica; Schaffeldt, Anna; Scherer, Clemens; Schieck, Maximilian; Schmidt, Susanne V.; Schommers, Philipp; Spinner, Christoph D.; Vehreschild, Maria J. G. T.; Velavan, Thirumalaisamy P.; Volland, Sonja; Wilfling, Sibylle; Winter, Christof; Richards, J. Brent; Heimbach, Andre; Becker, Kerstin; Ossowski, Stephan; Schultze, Joachim L.; Nuernberg, Peter; Noethen, Markus M.; Motameny, Susanne; Nothnagel, Michael; Riess, Olaf; Schulte, Eva C.; Ludwig, Kerstin U. (2024)
  • Tetraparesis and sensorimotor axonal polyneuropathy due to co-occurrence of Pompe disease and hereditary ATTR amyloidosis
    Zimmermann, Milan; Deininger, Natalie; Willikens, Sophia; Haack, Tobias B.; Grundmann-Hauser, Kathrin; Streubel, Berthold; Schreiber, Melanie; Lerche, Holger; Grimm, Alexander (2021)
  • The genetic landscape of sporadic adult-onset degenerative ataxia: a multi-modal genetic study of 377 consecutive patients from the longitudinal multi-centre SPORTAX cohort
    Beijer, Danique; Mengel, David; Onder, Demet; Wilke, Carlo; Traschuetz, Andreas; Faber, Jennifer; Timmann, Dagmar; Boesch, Sylvia; Vielhaber, Stefan; Klopstock, Thomas; Warrenburg, Bart P. van de; Silvestri, Gabriella; Kamm, Christoph; Wedding, Iselin Marie; Fleszar, Zofia; Harmuth, Florian; Dufke, Claudia; Brais, Bernard; Riess, Olaf; Schoels, Ludger; Haack, Tobias; Zuechner, Stephan; Pellerin, David; Klockgether, Thomas; Synofzik, Matthis (2025)
  • The movement disorder spectrum of SCA21 (ATX-TMEM240) : 3 novel families and systematic review of the literature
    Traschuetz, Andreas; van Gaalen, Judith; Oosterloo, Mayke; Vreeburg, Maaike; Kamsteeg, Erik-Jan; Deininger, Natalie; Riess, Olaf; Reimold, Matthias; Haack, Tobias; Schoels, Ludger; van de Warrenburg, Bart P.; Synofzik, Matthis (2019)
  • The prodromal phase of hereditary spastic paraplegia type 4: the preSPG4 cohort study
    Rattay, Tim W.; Voelker, Maximilian; Rautenberg, Maren; Kessler, Christoph; Wurster, Isabel; Winter, Natalie; Haack, Tobias B.; Lindig, Tobias; Hengel, Holger; Synofzik, Matthis; Schule, Rebecca; Martus, Peter; Schoels, Ludger (2023)
  • Truncating Mutations in UBAP1 Cause Hereditary Spastic Paraplegia
    Fard, Mohammad Ali Farazi; Rebelo, Adriana P.; Buglo, Elena; Nemati, Hamid; Dastsooz, Hassan; Gehweiler, Ina; Reich, Selina; Reichbauer, Jennifer; Quintans, Beatriz; Ordonez-Ugalde, Andres; Cortese, Andrea; Courel, Steve; Abreu, Lisa; Powell, Eric; Danzi, Matt; Martuscelli, Nicole B.; Bis-Brewer, Dana M.; Tao, Feifei; Zarei, Fariba; Habibzadeh, Parham; Yavarian, Majid; Modarresi, Farzaneh; Silawi, Mohammad; Tabatabaei, Zahra; Yousefi, Masoume; Farpour, Hamid Reza; Kessler, Christoph; Mangold, Elisabeth; Kobeleva, Xenia; Mueller, Amelie J.; Haack, Tobias B.; Tarnopolsky, Mark; Gan-Or, Ziv; Rouleau, Guy A.; Synofzik, Matthis; Sobrido, Maria-Jesus; Jordanova, Albena; Schule, Rebecca; Zuchner, Stephan; Faghihi, Mohammad Ali (2019)