Browsing 4 Medizinische Fakultät by Author "Haack, Tobias"

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Browsing 4 Medizinische Fakultät by Author "Haack, Tobias"

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  • 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)
  • Genomes in clinical care
    Riess, Olaf; Sturm, Marc; Menden, Benita; Liebmann, Alexandra; Demidov, German; Witt, Dennis; Casadei, Nicolas; Admard, Jakob; Schuetz, Leon; Ossowski, Stephan; Taylor, Stacie; Schaffer, Sven; Schroeder, Christopher; Dufke, Andreas; Haack, Tobias (2024)
  • Genotypic diversity and phenotypic spectrum of infantile liver failure syndrome type 1 due to variants inLARS1
    Lenz, Dominic; Smith, Desiree E. C.; Crushell, Ellen; Husain, Ralf A.; Salomons, Gajja S.; Alhaddad, Bader; Bernstein, Jonathan A.; Bianzano, Alyssa; Biskup, Saskia; Brennenstuhl, Heiko; Caldari, Dominique; Dikow, Nicola; Haack, Tobias B.; Hanson-Kahn, Andrea; Harting, Inga; Horn, Denise; Hughes, Joanne; Huijberts, Maya; Isidor, Bertrand; Kathemann, Simone; Kopajtich, Robert; Kotzaeridou, Urania; Kuery, Sebastien; Lainka, Elke; Laugwitz, Lucia; Lupski, James R.; Posey, Jennifer E.; Reynolds, Claire; Rosenfeld, Jill A.; Schroeter, Julian; Vansenne, Fleur; Wagner, Matias; Weiss, Claudia; Wolffenbuttel, Bruce H. R.; Wortmann, Saskia B.; Koelker, Stefan; Hoffmann, Georg F.; Prokisch, Holger; Mendes, Marisa, I; Staufner, Christian (2020)
  • Germline findings in patients with advanced malignancies screened with paired blood-tumour testing for personalised treatment approaches
    Roggia, Cristiana; Armeanu-Ebinger, Sorin; Gschwind, Axel; Seibel-Kelemen, Olga; Hertler, Sonja; Faust, Ulrike; Liebmann, Alexandra; Haack, Tobias B.; Neumann, Manuela; Bonzheim, Irina; Forschner, Andrea; Kopp, Hans-Georg; Herster, Franziska; Hartkopf, Andreas; Bitzer, Michael; Malek, Nisar P.; Brecht, Ines B.; Ruhm, Kristina; Moeller, Yvonne; Loewenheim, Hubert; Ossowski, Stephan; Riess, Olaf H.; Schroeder, Christopher (2023)
  • GestaltMatcher facilitates rare disease matching using facial phenotype descriptors
    Hsieh, Tzung-Chien; Bar-Haim, Aviram; Moosa, Shahida; Ehmke, Nadja; Gripp, Karen W.; Pantel, Jean Tori; Danyel, Magdalena; Mensah, Martin Atta; Horn, Denise; Rosnev, Stanislav; Fleischer, Nicole; Bonini, Guilherme; Hustinx, Alexander; Schmid, Alexander; Knaus, Alexej; Javanmardi, Behnam; Klinkhammer, Hannah; Lesmann, Hellen; Sivalingam, Sugirthan; Kamphans, Tom; Meiswinkel, Wolfgang; Ebstein, Frederic; Krueger, Elke; Kuery, Sebastien; Bezieau, Stephane; Schmidt, Axel; Peters, Sophia; Engels, Hartmut; Mangold, Elisabeth; Kreiss, Martina; Cremer, Kirsten; Perne, Claudia; Betz, Regina C.; Bender, Tim; Grundmann-Hauser, Kathrin; Haack, Tobias B.; Wagner, Matias; Brunet, Theresa; Bentzen, Heidi Beate; Averdunk, Luisa; Coetzer, Kimberly Christine; Lyon, Gholson J.; Spielmann, Malte; Schaaf, Christian P.; Mundlos, Stefan; Noethen, Markus M.; Krawitz, Peter M. (2022)
  • GFPT1-Associated Congenital Myasthenic Syndrome Mimicking a Glycogen Storage Disease - Diagnostic Pitfalls in Myopathology Solved by Next-Generation-Sequencing
    Mensch, Alexander; Cordts, Isabell; Scholle, Leila; Joshi, Pushpa Raj; Kleeberg, Kathleen; Emmer, Alexander; Beck-Woedl, Stefanie; Park, Joohyun; Haack, Tobias B.; Stoltenburg-Didinger, Gisela; Zierz, Stephan; Deschauer, Marcus (2022)
  • Haploinsufficiency of KMT2B, Encoding the Lysine-Specific Histone Methyltransferase 2B, Results in Early-Onset Generalized Dystonia
    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 (2016)
  • Hemodialysis in MNGIE transiently reduces serum and urine levels of thymidine and deoxyuridine, but not CSF levels and neurological function
    Marquetand, Justus; Bender, Benjamin; Billing, Heiko; Haack, Tobias B.; Sanchez-Albisua, Iciar; Schoels, Ludger; Blom, Henk J.; Synofzik, Matthis; Roeben, Benjamin (2017)
  • Heterozygous frameshift variants in HNRNPA2B1 cause early-onset oculopharyngeal muscular dystrophy
    Kim, Hong Joo; Mohassel, Payam; Donkervoort, Sandra; Guo, Lin; O'Donovan, Kevin; Coughlin, Maura; Lornage, Xaviere; Foulds, Nicola; Hammans, Simon R.; Foley, A. Reghan; Fare, Charlotte M.; Ford, Alice F.; Ogasawara, Masashi; Sato, Aki; Iida, Aritoshi; Munot, Pinki; Ambegaonkar, Gautam; Phadke, Rahul; O'Donovan, Dominic G.; Buchert, Rebecca; Grimmel, Mona; Topf, Ana; Zaharieva, Irina T.; Brady, Lauren; Hu, Ying; Lloyd, Thomas E.; Klein, Andrea; Steinlin, Maja; Kuster, Alice; Mercier, Sandra; Marcorelles, Pascale; Pereon, Yann; Fleurence, Emmanuelle; Manzur, Adnan; Ennis, Sarah; Upstill-Goddard, Rosanna; Bello, Luca; Bertolin, Cinzia; Pegoraro, Elena; Salviati, Leonardo; French, Courtney E.; Shatillo, Andriy; Raymond, F. Lucy; Haack, Tobias; Quijano-Roy, Susana; Bohm, Johann; Nelson, Isabelle; Stojkovic, Tanya; Evangelista, Teresinha; Straub, Volker; Romero, Norma B.; Laporte, Jocelyn; Muntoni, Francesco; Nishino, Ichizo; Tarnopolsky, Mark A.; Shorter, James; Bonnemann, Carsten G.; Taylor, J. Paul (2022)
  • Heterozygous pathogenic variants involving CBFB cause a new skeletal disorder resembling cleidocranial dysplasia
    Beyltjens, Tessi; Boudin, Eveline; Revencu, Nicole; Boeckx, Nele; Bertrand, Miriam; Schuetz, Leon; Haack, Tobias B.; Weber, Axel; Biliouri, Eleni; Vinksel, Mateja; Zagozen, Anja; Peterlin, Borut; Pai, Shashidhar; Telegrafi, Aida; Henderson, Lindsay B.; Ells, Courtney; Turner, Lesley; Wuyts, Wim; Van Hul, Wim; Hendrickx, Gretl; Mortier, Geert R. (2023)
  • 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)
  • Heterozygous Variants in KMT2E Cause a Spectrum of Neurodevelopmental Disorders and Epilepsy
    O'Donnell-Luria, Anne H.; Pais, Lynn S.; Faundes, Victor; Wood, Jordan C.; Sveden, Abigail; Luria, Victor; Abou Jamra, Rami; Accogli, Andrea; Amburgey, Kimberly; Anderlid, Britt Marie; Azzarello-Burri, Silvia; Basinger, Alice A.; Bianchini, Claudia; Bird, Lynne M.; Buchert, Rebecca; Carre, Wilfrid; Ceulemans, Sophia; Charles, Perrine; Cox, Helen; Culliton, Lisa; Curro, Aurora; Demurger, Florence; Dowling, James J.; Duban-Bedu, Benedicte; Dubourg, Christele; Eiset, Saga Elise; Escobar, Luis F.; Ferrarini, Alessandra; Haack, Tobias B.; Hashim, Mona; Heide, Solveig; Helbig, Katherine L.; Helbig, Ingo; Heredia, Raul; Heron, Delphine; Isidor, Bertrand; Jonasson, Amy R.; Joset, Pascal; Keren, Boris; Kok, Fernando; Kroes, Hester Y.; Lavillaureix, Alinoe; Lu, Xin; Maas, Saskia M.; Maegawa, Gustavo H. B.; Marcelis, Carlo L. M.; Mark, Paul R.; Masruha, Marcelo R.; McLaughlin, Heather M.; McWalter, Kirsty; Melchinger, Esther U.; Mercimek-Andrews, Saadet; Nava, Caroline; Pendziwiat, Manuela; Person, Richard; Ramelli, Gian Paolo; Ramos, Luiza L. P.; Rauch, Anita; Reavey, Caitlin; Renieri, Alessandra; Riess, Angelika; Sanchez-Valle, Amarilis; Sattar, Shifteh; Saunders, Carol; Schwarz, Niklas; Smol, Thomas; Srour, Myriam; Steindl, Katharina; Syrbe, Steffen; Taylor, Jenny C.; Telegrafi, Aida; Thiffault, Isabelle; Trauner, Doris A.; van der Linden, Helio, Jr.; van Koningsbruggen, Silvana; Villard, Laurent; Vogel, Ida; Vogt, Julie; Weber, Yvonne G.; Wentzensen, Ingrid M.; Widjaja, Elysa; Zak, Jaroslav; Baxter, Samantha; Banka, Siddharth; Rodan, Lance H.; Mcrae, Jeremy F.; Clayton, Stephen; Fitzgerald, Tomas W.; Kaplanis, Joanna; Prigmore, Elena; Rajan, Diana; Sifrim, Alejandro; Aitken, Stuart; Akawi, Nadia; Alvi, Mohsan; Ambridge, Kirsty; Barrett, Daniel M.; Bayzetinova, Tanya; Jones, Philip; Jones, Wendy D.; King, Daniel (2019)
  • 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)
  • Human COQ4 deficiency: delineating the clinical, metabolic and neuroimaging phenotypes
    Laugwitz, Lucia; Seibt, Annette; Herebian, Diran; Peralta, Susana; Kienzle, Imke; Buchert, Rebecca; Falb, Ruth; Gauck, Darja; Muller, Amelie; Grimmel, Mona; Beck-Woedel, Stefanie; Kern, Jan; Daliri, Karim; Katibeh, Pegah; Danhauser, Katharina; Leiz, Steffen; Alesi, Viola; Baertling, Fabian; Vasco, Gessica; Steinfeld, Robert; Wagner, Matias; Caglayan, Ahmet Okay; Gumus, Hakan; Burmeister, Margit; Mayatepek, Ertan; Martinelli, Diego; Tamhankar, Parag Mohan; Tamhankar, Vasundhara; Joset, Pascal; Steindl, Katharina; Rauch, Anita; Bonnen, Penelope E.; Froukh, Tawfiq; Groeschel, Samuel; Krageloh-Mann, Ingeborg; Haack, Tobias B.; Distelmaier, Felix (2022)
  • Human ultrarare genetic disorders of sulfur metabolism demonstrate redundancies in H2S homeostasis
    Kozich, Viktor; Schwahn, Bernd C.; Sokolova, Jitka; Krizkova, Michaela; Ditroi, Tamas; Krijt, Jakub; Khalil, Youssef; Krizek, Tomas; Vaculikova-Fantlova, Tereza; Stiburkova, Blanka; Mills, Philippa; Clayton, Peter; Barvikova, Kristyna; Blessing, Holger; Sykut-Cegielska, Jolanta; Dionisi-Vici, Carlo; Gasperini, Serena; Garcia-Cazorla, Angeles; Haack, Tobias B.; Honzik, Tomas; Jesina, Pavel; Kuster, Alice; Laugwitz, Lucia; Martinelli, Diego; Porta, Francesco; Santer, Rene; Schwarz, Guenter; Nagy, Peter (2022)
  • 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)
  • Identification and Characterization of a Novel Splice Site Mutation Associated with Glycogen Storage Disease Type VI in Two Unrelated Turkish Families
    Grunert, Sarah C.; Hannibal, Luciana; Schumann, Anke; Rosenbaum-Fabian, Stefanie; Beck-Wodl, Stefanie; Haack, Tobias B.; Grimmel, Mona; Bertrand, Miriam; Spiekerkoetter, Ute (2021)
  • Impaired glucose-1,6-biphosphate production due to bi-allelic PGM2L1 mutations is associated with a neurodevelopmental disorder
    Morava, Eva; Schatz, Ulrich A.; Torring, Pernille M.; Abbott, Mary-Alice; Baumann, Matthias; Brasch-Andersen, Charlotte; Chevalier, Nathalie; Dunkhase-Heinl, Ulrike; Fleger, Martin; Haack, Tobias B.; Nelson, Stephen; Potelle, Sven; Radenkovic, Silvia; Bommer, Guido T.; Van Schaftingen, Emile; Veiga-da-Cunha, Maria (2021)
  • Inherited variants in CHD3 show variable expressivity in Snijders Blok-Campeau syndrome
    van der Spek, Jet; den Hoed, Joery; Blok, Lot Snijders; Dingemans, Alexander J. M.; Schijven, Dick; Nellaker, Christoffer; Venselaar, Hanka; Astuti, Galuh D. N.; Barakat, Tahsin Stefan; Bebin, E. Martina; Beck-Wodl, Stefanie; Beunders, Gea; Brown, Natasha J.; Brunet, Theresa; Brunner, Han G.; Campeau, Philippe M.; Cuturilo, Goran; Gilissen, Christian; Haack, Tobias B.; Huning, Irina; Husain, Ralf A.; Kamien, Benjamin; Lim, Sze Chern; Lovrecic, Luca; Magg, Janine; Maver, Ales; Miranda, Valancy; Monteil, Danielle C.; Ockeloen, Charlotte W.; Pais, Lynn S.; Plaiasu, Vasilica; Raiti, Laura; Richmond, Christopher; Riess, Angelika; Schwaibold, Eva M. C.; Simon, Marleen E. H.; Spranger, Stephanie; Tan, Tiong Yang; Thompson, Michelle L.; de Vries, Bert B. A.; Wilkins, Ella J.; Willemsen, Marjolein H.; Francks, Clyde; Vissers, Lisenka E. L. M.; Fisher, Simon E.; Kleefstra, Tjitske (2022)