Browsing 4 Medizinische Fakultät by Author "Haack, Tobias"

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Browsing 4 Medizinische Fakultät by Author "Haack, Tobias"

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  • EEFSEC deficiency: A selenopathy with early-onset neurodegeneration
    Laugwitz, Lucia; Buchert, Rebecca; Olguin, Patricio; Estiar, Mehrdad A.; Atanasova, Mihaela; Marques, Wilson, Jr.; Enssle, Joerg; Marsden, Brian; Aviles, Javiera; Gonzalez-Gutierrez, Andres; Candia, Noemi; Fabiano, Marietta; Morlot, Susanne; Peralta, Susana; Groh, Alisa; Schillinger, Carmen; Kuehn, Carolin; Sofan, Linda; Sturm, Marc; Bender, Benjamin; Tomaselli, Pedro J.; Diebold, Uta; Mueller, Amelie J.; Spranger, Stephanie; Fuchs, Maren; Freua, Fernando; Melo, Uira Souto; Mattas, Lauren; Ashtiani, Setareh; Suchowersky, Oksana; Groeschel, Samuel; Rouleau, Guy A.; Yosovich, Keren; Michelson, Marina; Leibovitz, Zvi; Bilal, Muhammad; Uctepe, Eyyup; Yesilyurt, Ahmet; Ozdogan, Orhan; Celik, Tamer; Kraegeloh-Mann, Ingeborg; Riess, Olaf; Rosewich, Hendrik; Umair, Muhammad; Lev, Dorit; Zuchner, Stephan; Schweizer, Ulrich; Lynch, David S.; Gan-Or, Ziv; Hack, Tobias B. (2025)
  • 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)
  • First submicroscopic inversion of the OPA1 gene identified in dominant optic atrophy - a case report
    Weisschuh, Nicole; Mazzola, Pascale; Heinrich, Tilman; Haack, Tobias; Wissinger, Bernd; Tonagel, Felix; Kelbsch, Carina (2020)
  • First-line exome sequencing in Palestinian and Israeli Arabs with neurological disorders is efficient and facilitates disease gene discovery
    Hengel, Holger; Buchert, Rebecca; Sturm, Marc; Haack, Tobias B.; Schelling, Yvonne; Mahajnah, Muhammad; Sharkia, Rajech; Azem, Abdussalam; Balousha, Ghassan; Ghanem, Zaid; Falana, Mohammed; Balousha, Osama; Ayesh, Suhail; Keimer, Reinhard; Deigendesch, Werner; Zaidan, Jimmy; Marzouqa, Hiyam; Bauer, Peter; Schoels, Ludger (2020)
  • Frequency and Phenotype of RFC1 Repeat Expansions in Bilateral Vestibulopathy
    Traschuetz, Andreas; Heindl, Felix; Bilal, Muhammad; Hartmann, Annette M.; Dufke, Claudia; Riess, Olaf; Zwergal, Andreas; Rujescu, Dan; Haack, Tobias; Synofzik, Matthis; Strupp, Michael (2023)
  • Functional and clinical studies reveal pathophysiological complexity of CLCN4-related neurodevelopmental condition
    Palmer, Elizabeth E.; Pusch, Michael; Picollo, Alessandra; Forwood, Caitlin; Nguyen, Matthew H.; Suckow, Vanessa; Gibbons, Jessica; Hoff, Alva; Sigfrid, Lisa; Megarbane, Andre; Nizon, Mathilde; Cogne, Benjamin; Beneteau, Claire; Alkuraya, Fowzan S.; Chedrawi, Aziza; Hashem, Mais O.; Stamberger, Hannah; Weckhuysen, Sarah; Vanlander, Arnaud; Ceulemans, Berten; Rajagopalan, Sulekha; Nunn, Kenneth; Arpin, Stephanie; Raynaud, Martine; Motter, Constance S.; Ward-Melver, Catherine; Janssens, Katrien; Meuwissen, Marije; Beysen, Diane; Dikow, Nicola; Grimmel, Mona; Haack, Tobias B.; Clement, Emma; McTague, Amy; Hunt, David; Townshend, Sharron; Ward, Michelle; Richards, Linda J.; Simons, Cas; Costain, Gregory; Dupuis, Lucie; Mendoza-Londono, Roberto; Dudding-Byth, Tracy; Boyle, Jackie; Saunders, Carol; Fleming, Emily; El Chehadeh, Salima; Spitz, Marie-Aude; Piton, Amelie; Gerard, Benedicte; Warde, Marie-Therese Abi; Rea, Gillian; McKenna, Caoimhe; Douzgou, Sofia; Banka, Siddharth; Akman, Cigdem; Bain, Jennifer M.; Sands, Tristan T.; Wilson, Golder N.; Silvertooth, Erin J.; Miller, Lauren; Lederer, Damien; Sachdev, Rani; Macintosh, Rebecca; Monestier, Olivier; Karadurmus, Deniz; Collins, Felicity; Carter, Melissa; Rohena, Luis; Willemsen, Marjolein H.; Ockeloen, Charlotte W.; Pfundt, Rolph; Kroft, Sanne D.; Field, Michael; Laranjeira, Francisco E. R.; Fortuna, Ana M.; Soares, Ana R.; Michaud, Vincent; Naudion, Sophie; Golla, Sailaja; Weaver, David D.; Bird, Lynne M.; Friedman, Jennifer; Clowes, Virginia; Joss, Shelagh; Polsler, Laura; Campeau, Philippe M.; Blazo, Maria; Bijlsma, Emilia K.; Rosenfeld, Jill A.; Beetz, Christian; Powis, Zoe; McWalter, Kirsty; Brandt, Tracy; Torti, Erin; Mathot, Mikael; Mohammad, Shekeeb S.; Armstrong, Ruth; Kalscheuer, Vera M. (2023)
  • Further delineation of the rare GDACCF (global developmental delay, absent or hypoplastic corpus callosum, dysmorphic facies syndrome): genotype and phenotype of 22 patients with ZNF148 mutations
    Szakszon, Katalin; Lourenco, Charles Marques; Callewaert, Bert Louis; Genevieve, David; Rouxel, Flavien; Morin, Denis; Denomme-Pichon, Anne-Sophie; Vitobello, Antonio; Patterson, Wesley; Louie, Raymond; Vairo, Filippo; Klee, Eric; Kaiwar, Charu; Gavrilova, Ralitza H.; Agre, Katherine E.; Jacquemont, Sebastien; Khadije, Jizi; Giltay, Jacques; van Gassen, Koen; Mero, Gabriella; Gerkes, Erica; Van Bon, Bregje W.; Rinne, Tuula; Pfundt, Rolph; Brunner, Han G.; Caluseriu, Oana; Grasshoff, Ute; Kehrer, Martin; Haack, Tobias B.; Khelifa, Melik Malek; Bergmann, Anke Katharina; Cueto-Gonzalez, Anna Maria; Martorell, Ariadna Campos; Ramachandrappa, Shwetha; Sawyer, Lindsey B.; Fasel, Pascale; Braun, Dominique; Isis, Atallah; Superti-Furga, Andrea; McNiven, Vanda; Chitayat, David; Ahmed, Syed Anas; Brennenstuhl, Heiko; Schwaibolf, Eva M. C.; Battisti, Gladys; Parmentier, Benoit; Stevens, Servi J. C. (2024)
  • Gain and loss of TASK3 channel function and its regulation by novel variation cause KCNK9 imprinting syndrome
    Cousin, Margot A.; Veale, Emma L.; Dsouza, Nikita R.; Tripathi, Swarnendu; Holden, Robyn G.; Arelin, Maria; Beek, Geoffrey; Bekheirnia, Mir Reza; Beygo, Jasmin; Bhambhani, Vikas; Bialer, Martin; Bigoni, Stefania; Boelman, Cyrus; Carmichael, Jenny; Courtin, Thomas; Cogne, Benjamin; Dabaj, Ivana; Doummar, Diane; Fazilleau, Laura; Ferlini, Alessandra; Gavrilova, Ralitza H.; Jr, John M. Graham; Haack, Tobias B.; Juusola, Jane; Kant, Sarina G.; Kayani, Saima; Keren, Boris; Ketteler, Petra; Kloeckner, Chiara; Koopmann, Tamara T.; Kruisselbrink, Teresa M.; Kuechler, Alma; Lambert, Laetitia; Latypova, Xenia; Lebel, Robert Roger; Leduc, Magalie S.; Leonardi, Emanuela; Lewis, Andrea M.; Liew, Wendy; Machol, Keren; Mardini, Samir; McWalter, Kirsty; Mignot, Cyril; McLaughlin, Julie; Murgia, Alessandra; Narayanan, Vinodh; Nava, Caroline; Neuser, Sonja; Nizon, Mathilde; Ognibene, Davide; Park, Joohyun; Platzer, Konrad; Poirsier, Celine; Radtke, Maximilian; Ramsey, Keri; Runke, Cassandra K.; Sacoto, Maria J. Guillen; Scaglia, Fernando; Shinawi, Marwan; Spranger, Stephanie; Tan, Ee Shien; Taylor, John; Trentesaux, Anne-Sophie; Vairo, Filippo; Willaert, Rebecca; Zadeh, Neda; Urrutia, Raul; Babovic-Vuksanovic, Dusica; Zimmermann, Michael T.; Mathie, Alistair; Klee, Eric W. (2022)
  • Genetic and functional analysis of chymotrypsin-like protease (CTRL) in chronic pancreatitis
    Eiseler, Katharina; Neppl, Lea; Schmidt, Andreas W.; Rauscher, Beate; Ewers, Maren; Masson, Emmanuelle; Chen, Jian-Min; Ferec, Claude; Rebours, Vinciane; Grammatikopoulos, Tassos; Foskett, Pierre; Greenhalf, William; Halloran, Christopher; Neoptolemos, John; Haack, Tobias B.; Ossowski, Stephan; Sturm, Marc; Rosendahl, Jonas; Laumen, Helmut; Witt, Heiko (2023)
  • Genetic basis of neurodevelopmental disorders in 103 Jordanian families
    Froukh, Tawfiq; Nafie, Omar; Al Hait, Sana' A. S.; Laugwitz, Lucia; Sommerfeld, Julia; Sturm, Marc; Baraghiti, Aya; Issa, Tala; Al-Nazer, Anis; Koch, Philipp A.; Hanselmann, Johannes; Kootz, Beate; Bauer, Peter; Al-Ameri, Wael; Abou Jamra, Rami; Alfrook, Ayman J.; Hamadallah, Moath; Sofan, Linda; Riess, Angelika; Haack, Tobias B.; Riess, Olaf; Buchert, Rebecca (2020)
  • Genetic diagnosis of Mendelian disorders via RNA sequencing
    Kremer, Laura S.; Bader, Daniel M.; Mertes, Christian; Kopajtich, Robert; Pichler, Garwin; Iuso, Arcangela; Haack, Tobias B.; Graf, Elisabeth; Schwarzmayr, Thomas; Terrile, Caterina; Konarikova, Eliska; Repp, Birgit; Kastenmueller, Gabi; Adamski, Jerzy; Lichtner, Peter; Leonhardt, Christoph; Funalot, Benoit; Donati, Alice; Tiranti, Valeria; Lombes, Anne; Jardel, Claude; Glaeser, Dieter; Taylor, Robert W.; Ghezzi, Daniele; Mayr, Johannes A.; Roetig, Agnes; Freisinger, Peter; Distelmaier, Felix; Strom, Tim M.; Meitinger, Thomas; Gagneur, Julien; Prokisch, Holger (2017)