Auflistung Universitätsbibliographie nach Autor "Haack, Tobias"

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Auflistung Universitätsbibliographie nach Autor "Haack, Tobias"

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  • De novo stop-loss variants in CLDN11 cause hypomyelinating leukodystrophy
    Riedhammer, Korbinian M.; Stockler, Sylvia; Ploski, Rafal; Wenzel, Maren; Adis-Dutschmann, Burkhard; Ahting, Uwe; Alhaddad, Bader; Blaschek, Astrid; Haack, Tobias B.; Kopajtich, Robert; Lee, Jessica; Pienkowski, Victor Murcia; Pollak, Agnieszka; Szymanska, Krystyna; Tarailo-Graovac, Maja; van der Lee, Robin; van Karnebeek, Clara D.; Meitinger, Thomas; Krageloh-Mann, Ingeborg; Vill, Katharina (2021)
  • De novo variants in SLC12A6 cause sporadic early-onset progressive sensorimotor neuropathy
    Park, Joohyun; Flores, Bianca R.; Scherer, Katalin; Kuepper, Hanna; Rossi, Mari; Rupprich, Katrin; Rautenberg, Maren; Deininger, Natalie; Weichselbaum, Annette; Grimm, Alexander; Sturm, Marc; Grasshoff, Ute; Delpire, Eric; Haack, Tobias B. (2020)
  • De Novo Variants in the F-Box Protein FBXO11 in 20 Individuals with a Variable Neurodevelopmental Disorder
    Gregor, Anne; Sadleir, Lynette G.; Asadollahi, Reza; Azzarello-Burri, Silvia; Battaglia, Agatino; Ousager, Lilian Bomme; Boonsawat, Paranchai; Bruel, Ange-Line; Buchert, Rebecca; Calpena, Eduardo; Cogne, Benjamin; Dallapiccola, Bruno; Distelmaier, Felix; Elmslie, Frances; Faivre, Laurence; Haack, Tobias B.; Harrison, Victoria; Henderson, Alex; Hunt, David; Isidor, Bertrand; Joset, Pascal; Kumada, Satoko; Lachmeijer, Augusta M. A.; Lees, Melissa; Lynch, Sally Ann; Martinez, Francisco; Matsumoto, Naomichi; McDougall, Carey; Mefford, Heather C.; Miyake, Noriko; Myers, Candace T.; Moutton, Sebastien; Nesbitt, Addie; Novelli, Antonio; Orellana, Carmen; Rauch, Anita; Rosello, Monica; Saida, Ken; Santani, Avni B.; Sarkar, Ajoy; Scheffer, Ingrid E.; Shinawi, Marwan; Steindl, Katharina; Symonds, Joseph D.; Zackai, Elaine H.; Univ, Washington Ctr Mendelian Genomics D. D. D.; Reis, Andre; Sticht, Heinrich; Zweier, Christiane (2018)
  • Defining diagnostic cutoffs in neurological patients for serum very long chain fatty acids (VLCFA) in genetically confirmed X-Adrenoleukodystrophy
    Rattay, Tim W.; Rautenberg, Maren; Soehn, Anne S.; Hengel, Holger; Traschuetz, Andreas; Roeben, Benjamin; Hayer, Stefanie N.; Schuele, Rebecca; Wiethoff, Sarah; Zeltner, Lena; Haack, Tobias B.; Cegan, Alexander; Schoels, Ludger; Schleicher, Erwin; Peter, Andreas (2020)
  • Defining the phenotypical spectrum associated with variants in TUBB2A
    Brock, Stefanie; Vanderhasselt, Tim; Vermaning, Sietske; Keymolen, Kathelijn; Regal, Luc; Romaniello, Romina; Wieczorek, Dagmar; Storm, Tim Matthias; Schaeferhoff, Karin; Hehr, Ute; Kuechler, Alma; Kraegeloh-Mann, Ingeborg; Haack, Tobias B.; Kasteleijn, Esmee; Schot, Rachel; Mancini, Grazia Maria Simonetta; Webster, Richard; Mohammad, Shekeeb; Leventer, Richard J.; Mirzaa, Ghayda; Dobyns, William B.; Bahi-Buisson, Nadia; Meuwissen, Marije; Jansen, Anna C.; Stouffs, Katrien (2021)
  • Delineating MT-ATP6-associated disease
    Stendel, Claudia; Neuhofer, Christiane; Floride, Elisa; Shi Yuqing; Ganetzky, Rebecca D.; Park, Joohyun; Freisinger, Peter; Kornblum, Cornelia; Kleinle, Stephanie; Schoels, Ludger; Distelmaier, Felix; Stettner, Georg M.; Buechner, Boriana; Falk, Marni J.; Mayr, Johannes A.; Synofzik, Matthis; Abicht, Angela; Haack, Tobias B.; Prokisch, Holger; Wortmann, Saskia B.; Murayama, Kei; Fang, Fang; Klopstock, Thomas (2020)
  • Diagnostic genome sequencing improves diagnostic yield: a prospective single-centre study in 1000 patients with inherited eye diseases
    Weisschuh, Nicole; Mazzola, Pascale; Zuleger, Theresia; Schaeferhoff, Karin; Kuehlewein, Laura; Kortuem, Friederike; Witt, Dennis; Liebmann, Alexandra; Falb, Ruth; Pohl, Lisa; Reith, Milda; Stuehn, Lara G.; Bertrand, Miriam; Mueller, Amelie; Casadei, Nicolas; Kelemen, Olga; Kelbsch, Carina; Kernstock, Christoph; Richter, Paul; Sadler, Francoise; Demidov, German; Schuetz, Leon; Admard, Jakob; Sturm, Marc; Grasshoff, Ute; Tonagel, Felix; Heinrich, Tilman; Nasser, Fadi; Wissinger, Bernd; Ossowski, Stephan; Kohl, Susanne; Riess, Olaf; Stingl, Katarina; Haack, Tobias B. (2024)
  • Disruption of MeCP2-TCF20 complex underlies distinct neurodevelopmental disorders
    Zhou, Jian; Hamdan, Hamdan; Yalamanchili, Hari Krishna; Pang, Kaifang; Pohodich, Amy E.; Lopez, Joanna; Shao, Yingyao; Oses-Prieto, Juan A.; Li, Lifang; Kim, Wonho; Durham, Mark A.; Bajikar, Sameer S.; Palmer, Donna J.; Ng, Philip; Thompson, Michelle L.; Bebin, E. Martina; Mueller, Amelie J.; Kuechler, Alma; Kampmeier, Antje; Haack, Tobias B.; Burlingame, Alma L.; Liu, Zhandong; Rasband, Matthew N.; Zoghbi, Huda Y. (2022)
  • Diverse phenotype in patients with complex I deficiency due to mutations in NDUFB11
    Reinson, Karit; Kovacs-Nagy, Reka; Oiglane-Shlik, Eve; Pajusalu, Sander; Noukas, Margit; Wintjes, Liesbeth T.; van den Brandt, Frans C. A.; Brink, Maaike; Acker, Till; Ahting, Uwe; Hahn, Andreas; Schanzer, Anne; Haack, Tobias B.; Rodenburg, Richard J.; Ounapa, Katrin (2019)
  • DLG4-related synaptopathy: a new rare brain disorder
    Rodriguez-Palmero, Agusti; Boerrigter, Melissa Maria; Gomez-Andres, David; Aldinger, Kimberly A.; Marcos-Alcalde, Inigo; Popp, Bernt; Everman, David B.; Lovgren, Alysia Kern; Arpin, Stephanie; Bahrambeigi, Vahid; Beunders, Gea; Bisgaard, Anne-Marie; Bjerregaard, V. A.; Bruel, Ange-Line; Challman, Thomas D.; Cogne, Benjamin; Coubes, Christine; de Man, Stella A.; Denomme-Pichon, Anne-Sophie; Dye, Thomas J.; Elmslie, Frances; Feuk, Lars; Garcia-Minaur, Sixto; Gertler, Tracy; Giorgio, Elisa; Gruchy, Nicolas; Haack, Tobias B.; Haldeman-Englert, Chad R.; Haukanes, Bjorn Ivar; Hoyer, Juliane; Hurst, Anna C. E.; Isidor, Bertrand; Soller, Maria Johansson; Kushary, Sulagna; Kvarnung, Malin; Landau, Yuval E.; Leppig, Kathleen A.; Lindstrand, Anna; Kleinendorst, Lotte; MacKenzie, Alex; Mandrile, Giorgia; Mendelsohn, Bryce A.; Moghadasi, Setareh; Morton, Jenny E.; Moutton, Sebastien; Mueller, Amelie J.; O'Leary, Melanie; Pacio-Miguez, Marta; Palomares-Bralo, Maria; Parikh, Sumit; Pfundt, Rolph; Pode-Shakked, Ben; Rauch, Anita; Repnikova, Elena; Revah-Politi, Anya; Ross, Meredith J.; Ruivenkamp, Claudia A. L.; Sarrazin, Elisabeth; Savatt, Juliann M.; Schlueter, Agatha; Schoenewolf-Greulich, Bitten; Shad, Zohra; Shaw-Smith, Charles; Shieh, Joseph T.; Shohat, Motti; Spranger, Stephanie; Thiese, Heidi; Mau-Them, Frederic Tran; van Bon, Bregje; van de Burgt, Ineke; van de Laar, Ingrid M. B. H.; van Drie, Esmee; van Haelst, Mieke M.; van Ravenswaaij-Arts, Conny M.; Verdura, Edgard; Vitobello, Antonio; Waldmueller, Stephan; Whiting, Sharon; Zweier, Christiane; Prada, Carlos E.; de Vries, Bert B. A.; Dobyns, William B.; Reiter, Simone F.; Gomez-Puertas, Paulino; Pujol, Aurora; Tumer, Zeynep (2021)
  • Episignature analysis of moderate effects and mosaics
    Oexle, Konrad; Zech, Michael; Stuehn, Lara G.; Siegert, Sandy; Brunet, Theresa; Schmidt, Wolfgang M.; Wagner, Matias; Schmidt, Axel; Engels, Hartmut; Tilch, Erik; Monestier, Olivier; Destree, 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 (2023)
  • Exome sequencing (ES) of a pediatric cohort with chronic endocrine diseases: a single-center study (within the framework of the TRANSLATE-NAMSE project)
    Gippert, Sebastian; Wagner, Matias; Brunet, Theresa; Berruti, Riccardo; Brugger, Melanie; Schwaibold, Eva M. C.; Haack, Tobias B.; Hoffmann, Georg F.; Bettendorf, Markus; Choukair, Daniela (2024)
  • Exome sequencing identifies homozygous variants in MBOAT7 associated with neurodevelopmental disorder
    Nazmina, Gul; Khan, Amjad; Jiang, Jiuhong; Miao, Zhichao; Khan, Shahid Niaz; Khan, Muhammad Ismail; Shah, Abdul Haleem; Shah, Aysha Haleem; Khisroon, Muhammad; Haack, Tobias B. (2024)
  • Exome Sequencing in Children Undiagnosed Developmental Delay and Neurological Illness
    Mahler, Elisa A.; Johannsen, Jessika; Tsiakas, Konstantinos; Kloth, Katja; Luettgen, Sabine; Muehlhausen, Chris; Alhaddad, Bader; Haack, Tobias B.; Strom, Tim M.; Kortuem, Fanny; Meitinger, Thomas; Muntau, Ania C.; Santer, Rene; Kubisch, Christian; Lessel, Davor; Denecke, Jonas; Hempel, Maja (2019)
  • Exome Sequencing of Consanguineous Pashtun Families With Familial Epilepsy Reveals Causative and Candidate Variants in TSEN54, MOCS2, and OPHN1
    Khan, Afrasiab; Muhammad, Anees; Ullah, Hidayat; Ambreen, Hina; Ullah, Abeed; May, Patrick; Lerche, Holger; Haack, Tobias B.; Rehman, Shoaib ur; Kegele, Josua (2025)
  • Exome-based gene panel analysis in a cohort of acute juvenile ischemic stroke patients:relevance of NOTCH3 and GLA variants
    Haertl, Johanna; Hartberger, Julia; Wunderlich, Silke; Cordts, Isabell; Bafligil, Cemsel; Sturm, Marc; Westphal, Dominik; Haack, Tobias; Hemmer, Bernhard; Ikenberg, Benno David; Deschauer, Marcus (2023)
  • Exomsequenzierung bei Kindern und Jugendlichen mit seltenen Erkrankungen : Aktueller Stand, Herausforderungen, Perspektiven
    Scholz, Tasja; Dufke, Andreas; Haack, Tobias; Elbracht, Miriam; Eggermann, Thomas; Roggia, Cristiana; Riess, Olaf; Kurth, Ingo; Hempel, Maja (2022)
  • Expanding the phenotypic and molecular spectrum of RNA polymerase III-related leukodystrophy
    Perrier, Stefanie; Gauquelin, Laurence; Fallet-Bianco, Catherine; Dishop, Megan K.; Michell-Robinson, Mackenzie A.; Tran, Luan T.; Guerrero, Kether; Darbelli, Lama; Srour, Myriam; Petrecca, Kevin; Renaud, Deborah L.; Saito, Michael; Cohen, Seth; Leiz, Steffen; Alhaddad, Bader; Haack, Tobias B.; Tejera-Martin, Ingrid; Monton, Fernando I.; Rodriguez-Espinosa, Norberto; Pohl, Daniela; Nageswaran, Savithri; Grefe, Annette; Glamuzina, Emma; Bernard, Genevieve (2020)
  • Expansion of the phenotypic and molecular spectrum of CWF19L1-related disorder
    Alvarez, Carolina; Grimmel, Mona; Ebrahimi-Fakhari, Darius; Paul, Victoria G. G.; Deininger, Natalie; Riess, Angelika; Haack, Tobias; Gardella, Elena; Moller, Rikke S. S.; Bayat, Allan (2023)
  • Extension of the phenotype of biallelic loss-of-function mutations in SLC25A46 to the severe form of pontocerebellar hypoplasia type I
    Braunisch, M. C.; Gallwitz, H.; Abicht, A.; Diebold, I.; Holinski-Feder, E.; Van Maldergem, L.; Lammens, M.; Kovacs-Nagy, R.; Alhaddad, B.; Strom, T. M.; Meitinger, T.; Senderek, J.; Rudnik-Schoeneborn, S.; Haack, T. B. (2018)