Browsing Universitätsbibliographie by Author "Haack, Tobias"

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Browsing Universitätsbibliographie by Author "Haack, Tobias"

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  • 3-Methylglutaconic aciduria, a frequent but underrecognized finding in carbamoyl phosphate synthetase I deficiency
    Rokicki, Dariusz; Pajdowska, Magdalena; Trubicka, Joanna; Meow-Keong Thong; Ciara, Elzbieta; Piekutowska-Abramczuk, Dorota; Pronicki, Maciej; Sikora, Roman; Haidar, Rijad; Oltarzewski, Mariusz; Jablonska, Ewa; Muthukumarasamy, Premala; Sthaneswar, Pavai; Gan, Chin-Seng; Krajewska-Walasek, Malgorzata; Carrozzo, Rosalba; Verrigni, Daniela; Semeraro, Michela; Rizzo, Cristiano; Taurisano, Roberta; Alhaddad, Bader; Kovacs-Nagy, Reka; Haack, Tobias B.; Dionisi-Vici, Carlo; Pronicka, Ewa; Wortmann, Saskia B. (2017)
  • A de novo STUB1 variant associated with an early adult-onset multisystemic ataxia phenotype
    Mengel, David; Traschuetz, Andreas; Reich, Selina; Leyva-Gutierrez, Alejandra; Bender, Friedemann; Hauser, Stefan; Haack, Tobias B.; Synofzik, Matthis (2021)
  • A further case of AFG2B-related neurodevelopmental disorder with hearing loss and microcephaly allows further clarification of pathogenicity of the variant c.1313T>C, p.(Leu438Pro)
    Grosch, Sarah; Kehrer, Martin; Riess, Olaf; Bevot, Andrea; Haack, Tobias B. (2024)
  • A GGC-repeat expansion in ZFHX3 encoding polyglycine causes spinocerebellar ataxia type 4 and impairs autophagy
    Figueroa, Karla P.; Gross, Caspar; Buena-Atienza, Elena; Paul, Sharan; Gandelman, Mandi; Kakar, Naseebullah; Sturm, Marc; Casadei, Nicolas; Admard, Jakob; Park, Joohyun; Zuehlke, Christine; Hellenbroich, Yorck; Pozojevic, Jelena; Balachandran, Saranya; Haendler, Kristian; Zittel, Simone; Timmann, Dagmar; Erdlenbruch, Friedrich; Herrmann, Laura; Feindt, Thomas; Zenker, Martin; Klopstock, Thomas; Dufke, Claudia; Scoles, Daniel R.; Koeppen, Arnulf; Spielmann, Malte; Riess, Olaf; Ossowski, Stephan; Haack, Tobias B.; Pulst, Stefan M. (2024)
  • A Novel Missense Variant in Ultrarare SLC35A1-CDG Alters Cellular Glycosylation, Lipid, and Energy Metabolism Without Affecting CDG Serum Markers
    Falkenstein, Kristina; Hoeren, Lukas; Kikul, Frauke; Poschet, Gernot; Luechtenborg, Christian; Brecht, Ines B.; Falb, Ruth; Gauck, Darja; Haack, Tobias; Hecker, Andreas; Himmelreich, Nastassja; Okun, Juergen G.; Bruegger, Britta; Thiel, Christian (2025)
  • A Novel, Apparently Silent Variant in MFSD8 Causes Neuronal Ceroid Lipofuscinosis with Marked Intrafamilial Variability
    Reith, Milda; Zeltner, Lena; Schaeferhoff, Karin; Witt, Dennis; Zuleger, Theresia; Haack, Tobias B.; Bornemann, Antje; Alber, Michael; Ruf, Susanne; Schoels, Ludger; Stingl, Katarina; Weisschuh, Nicole (2022)
  • A PAK1 Mutational Hotspot Within the Regulatory CRIPaK Domain is Associated With Severe Neurodevelopmental Disorders in Children
    Scorrano, Giovanna; D'Onofrio, Gianluca; Accogli, Andrea; Severino, Mariasavina; Buchert, Rebecca; Kotzaeridou, Urania; Iapadre, Giulia; Farello, Giovanni; Iacomino, Michele; Dono, Fedele; Di Francesco, Ludovica; Fiorile, Maria Francesca; La Bella, Saverio; Corsello, Antonio; Cali, Elisa; Di Rosa, Gabriella; Gitto, Eloisa; Verrotti, Alberto; Fortuna, Sara; Soler, Miguel A.; Chiarelli, Francesco; Oehl-Jaschkowitz, Barbara; Haack, Tobias B.; Zara, Federico; Striano, Pasquale; Salpietro, Vincenzo (2023)
  • A single center experience of prenatal parent-fetus trio exome sequencing for pregnancies with congenital anomalies
    Dufke, Andreas; Hoopmann, Markus; Waldmuller, Stephan; Prodan, Natalia Carmen; Beck-Woedl, Stefanie; Grasshoff, Ute; Heinrich, Tilman; Riess, Angelika; Kehrer, Martin; Falb, Ruth J.; Liebmann, Alexandra; Roggia, Cristiana; Stampfer, Miriam; Schadeck, Malou; Mueller, Amelie J.; Grimmel, Mona; Stoebe, Petra; Gauck, Darja; Buchert-Lo, Rebecca; Baumann, Sarah; Schaeferhoff, Karin; Bertrand, Miriam; Menden, Benita; Sturm, Marc; Schuetz, Leon; Riess, Olaf; Ossowski, Stephan; Haack, Tobias B.; Kagan, Karl Oliver (2022)
  • A Solve-RD ClinVar-based reanalysis of 1522 index cases from ERN-ITHACA reveals common pitfalls and misinterpretations in exome sequencing
    Denomme-Pichon, Anne-Sophie; Matalonga, Leslie; de Boer, Elke; Jackson, Adam; Benetti, Elisa; Banka, Siddharth; Bruel, Ange-Line; Ciolfi, Andrea; Clayton-Smith, Jill; Dallapiccola, Bruno; Duffourd, Yannis; Ellwanger, Kornelia; Fallerini, Chiara; Gilissen, Christian; Graessner, Holm; Haack, Tobias B.; Havlovicova, Marketa; Hoischen, Alexander; Jean-Marcais, Nolwenn; Kleefstra, Tjitske; Lopez-Martin, Estrella; Jr, Milan Macek; Mencarelli, Maria Antonietta; Moutton, Sebastien; Pfundt, Rolph; Pizzi, Simone; Posada, Manuel; Radio, Francesca Clementina; Renieri, Alessandra; Rooryck, Caroline; Ryba, Lukas; Safraou, Hana; Schwarz, Martin; Tartaglia, Marco; Thauvin-Robinet, Christel; Thevenon, Julien; Mau-Them, Frederic Tran; Trimouille, Aurelien; Votypka, Pavel; Vries, Bert B. A. de; Willemsen, Marjolein H.; Zurek, Birte; Verloes, Alain; Philippe, Christophe; Vitobello, Antonio; Vissers, Lisenka E. L. M.; Faivre, Laurence (2023)
  • ACOX1 Gain-of-Function Variant in Two German Pediatric Patients, in One Case Mimicking Autoimmune Inflammatory Disease
    Thiels, C.; Luecke, T.; Rothoeft, T.; Lukas, C.; Nguyen, H. P.; von Kleist-Retzow, J. C.; Prokisch, H.; Grimmel, M.; Haack, T. B.; Hoffjan, S. (2024)
  • Acute-onset axonal neuropathy following infection in children with biallelic RCC1 variants: a case series
    Harkness, J. Robert; Mcdermott, John H.; Marsden, Shea; Jamieson, Peter; Metcalfe, Kay A.; Khan, Naz; Macken, William L.; Pitceathly, Robert D. S.; Record, Christopher J.; Maroofian, Reza; Kleopa, Kleopas; Christodoulou, Kyproula; Sabir, Ataf; Islam, Lily; Santra, Saikat; Durmusalioglu, Enise Avci; Atik, Tahir; Isik, Esra; Cogulu, Ozgur; Urquhart, Jill E.; Beaman, Glenda M.; Demain, Leigh A.; Jackson, Adam; Blakes, Alexander J. M.; Byers, Helen J.; Bennett, Hayley; Lin, Wei-Hsiang; Adamson, Antony; Patel, Sanjai; Yue, Wyatt W.; Taylor, Robert W.; Reunert, Janine; Marquardt, Thorsten; Buchert, Rebecca; Haack, Tobias; Losch, Heike; Ryba, Lukas; Lassuthova, Petra; Valkovicova, Radka; Haberlova, Jana; Lauerova, Barbora; Trusikova, Eva; Polavarapu, Kiran; Kilicarslan, Ozge Aksel; Lochmuller, Hanns; Zamani, Mina; Chamanrou, Niloofar; Shariati, Gholamreza; Sadeghian, Saeid; Azizimalamiri, Reza; Maddirevula, Sateesh; Almuhaizea, Muhammad; Alkuraya, Fowzan S.; Horvath, Rita; Gungor, Serdal; Manzur, Adnan; Munot, Pinki; Matthews, Rachael; Banka, Siddharth; Reilly, Mary M.; Bennett, Daimark; O'keefe, Raymond T.; Newman, William G. (2025)
  • Angiokeratoma corporis diffusum with severe acroparesthesia, an endothelial abnormality, and inconspicuous genetic findings
    Harzer, Klaus; Beck-Woedl, Stefanie; Haack, Tobias B. (2022)
  • BCL11B mutations in patients affected by a neurodevelopmental disorder with reduced type 2 innate lymphoid cells
    Lessel, Davor; Gehbauer, Christina; Bramswig, Nuria C.; Schluth-Bolard, Caroline; Venkataramanappa, Sathish; van Gassen, Koen L. I.; Hempel, Maja; Haack, Tobias B.; Baresic, Anja; Genetti, Casie A.; Funari, Mariana F. A.; Lessel, Ivana; Kuhlmann, Leonie; Simon, Ruth; Liu, Pentao; Denecke, Jonas; Kuechler, Alma; de Kruijff, Ineke; Shoukier, Moneef; Lek, Monkol; Mullen, Thomas; Luedecke, Hermann-Josef; Lerario, Antonio M.; Kobbe, Robin; Krieger, Thorsten; Demeer, Benedicte; Lebrun, Marine; Keren, Boris; Nava, Caroline; Buratti, Julien; Afenjar, Alexandra; Shinawi, Marwan; Sacoto, Maria J. Guillen; Gauthier, Julie; Hamdan, Fadi F.; Laberge, Anne-Marie; Campeau, Philippe M.; Louie, Raymond J.; Cathey, Sara S.; Prinz, Immo; Jorge, Alexander A. L.; Terhal, Paulien A.; Lenhard, Boris; Wieczorek, Dagmar; Strom, Tim M.; Agrawal, Pankaj B.; Britsch, Stefan; Tolosa, Eva; Kubisch, Christian (2018)
  • Benchmarking whole exome sequencing in the German network for personalized medicine
    Menzel, Michael; Martis-Thiele, Mihaela; Goldschmid, Hannah; Ott, Alexander; Romanovsky, Eva; Siemanowski-Hrach, Janna; Seillier, Lancelot; Bruechle, Nadina Ortiz; Maurer, Angela; Lehmann, Kjong-Van; Begemann, Matthias; Elbracht, Miriam; Meyer, Robert; Dintner, Sebastian; Claus, Rainer; Meier-Kolthoff, Jan P.; Blanc, Eric; Moebs, Markus; Joosten, Maria; Benary, Manuela; Basitta, Patrick; Hoelscher, Florian; Tischler, Verena; Gross, Thomas; Kutz, Oliver; Prause, Rebecca; William, Doreen; Horny, Kai; Goering, Wolfgang; Sivalingam, Sugirthan; Borkhardt, Arndt; Blank, Cornelia; Junk, Stefanie V.; Yasin, Layal; Moskalev, Evgeny A.; Carta, Maria Giulia; Ferrazzi, Fulvia; Toegel, Lars; Wolter, Steffen; Adam, Eugen; Matysiak, Uta; Rosenthal, Tessa; Doenitz, Juergen; Lehmann, Ulrich; Schmidt, Gunnar; Bartels, Stephan; Hofmann, Winfried; Hirsch, Steffen; Dikow, Nicola; Goebel, Kirsten; Banan, Rouzbeh; Hamelmann, Stefan; Fink, Annette; Ball, Markus; Neumann, Olaf; Rehker, Jan; Kloth, Michael; Murtagh, Justin; Hartmann, Nils; Jurmeister, Phillip; Mock, Andreas; Kumbrink, Joerg; Jung, Andreas; Mayr, Eva-Maria; Jacob, Anne; Trautmann, Marcel; Kirmse, Santina; Falkenberg, Kim; Ruckert, Christian; Hirsch, Daniela; Immel, Alexander; Dietmaier, Wolfgang; Haack, Tobias; Marienfeld, Ralf; Fuerstberger, Axel; Niewoehner, Jakob; Gerstenmaier, Uwe; Eberhardt, Timo; Greif, Philipp A.; Appenzeller, Silke; Maurus, Katja; Doll, Julia; Jelting, Yvonne; Jonigk, Danny; Maerkl, Bruno; Beule, Dieter; Horst, David; Wulf, Anna-Lena; Aust, Daniela; Werner, Martin; Reuter-Jessen, Kirsten; Stroebel, Philipp; Auber, Bernd; Sahm, Felix; Merkelbach-Bruse, Sabine; Siebolts, Udo; Roth, Wilfried; Lassmann, Silke; Klauschen, Frederick; Gaisa, Nadine T.; Weichert, Wilko (2024)
  • Bi-allelic ADPRHL2 Mutations Cause Neurodegeneration with Developmental Delay, Ataxia, and Axonal Neuropathy
    Danhauser, Katharina; Alhaddad, Bader; Makowski, Christine; Piekutowska-Abramczuk, Dorota; Syrbe, Steffen; Gomez-Ospina, Natalia; Manning, Melanie A.; Kostera-Pruszczyk, Anna; Krahn-Peper, Claudia; Berutti, Riccardo; Kovacs-Nagy, Reka; Gusic, Mirjana; Graf, Elisabeth; Laugwitz, Lucia; Roeblitz, Michaela; Wroblewski, Andreas; Hartmann, Hans; Das, Anibh M.; Bueltmann, Eva; Fang, Fang; Xu, Manting; Schatz, Ulrich A.; Karall, Daniela; Zellner, Herta; Haberlandt, Edda; Feichtinger, Rene G.; Mayr, Johannes A.; Meitinger, Thomas; Prokisch, Holger; Strom, Tim M.; Ploski, Rafal; Hoffmann, Georg F.; Pronicki, Maciej; Bonnen, Penelope E.; Morlot, Susanne; Haack, Tobias B. (2018)
  • Bi-Allelic COQ4 Variants Cause Adult-Onset Ataxia-Spasticity Spectrum Disease
    Cordts, Isabell; Semmler, Luisa; Prasuhn, Jannik; Seibt, Annette; Herebian, Diran; Navaratnarajah, Tharsini; Park, Joohyun; Deininger, Natalie; Laugwitz, Lucia; Goericke, Sophia L.; Lingor, Paul; Brueggemann, Norbert; Muenchau, Alexander; Synofzik, Matthis; Timmann, Dagmar; Mayr, Johannes A.; Haack, Tobias B.; Distelmaier, Felix; Deschauer, Marcus (2022)
  • Bi-allelic HPDL Variants Cause a Neurodegenerative Disease Ranging from Neonatal Encephalopathy to Adolescent-Onset Spastic Paraplegia
    Husain, Ralf A.; Grimmel, Mona; Wagner, Matias; Hennings, J. Christopher; Marx, Christian; Feichtinger, Rene G.; Saadi, Abdelkrim; Rostasy, Kevin; Radelfahr, Florentine; Bevot, Andrea; Doebler-Neumann, Marion; Hartmann, Hans; Colleaux, Laurence; Cordts, Isabell; Kobeleva, Xenia; Darvish, Hossein; Bakhtiari, Somayeh; Kruer, Michael C.; Besse, Arnaud; Ng, Andy Cheuk-Him; Chiang, Diana; Bolduc, Francois; Tafakhori, Abbas; Mane, Shrikant; Firouzabadi, Saghar Ghasemi; Huebner, Antje K.; Buchert, Rebecca; Beck-Woedl, Stefanie; Mueller, Amelie J.; Laugwitz, Lucia; Naegele, Thomas; Wang, Zhao-Qi; Strom, Tim M.; Sturm, Marc; Meitinger, Thomas; Klockgether, Thomas; Riess, Olaf; Klopstock, Thomas; Brandl, Ulrich; Huebner, Christian A.; Deschauer, Marcus; Mayr, Johannes A.; Bonnen, Penelope E.; Kraegeloh-Mann, Ingeborg; Wortmann, Saskia B.; Haack, Tobias B. (2020)
  • Bi-allelic KICS2 mutations impair KICSTOR complex-mediated mTORC1 regulation, causing intellectual disability and epilepsy
    Buchert, Rebecca; Burkhalter, Martin D.; Huridou, Chrisovalantou; Sofan, Linda; Roser, Timo; Cremer, Kirsten; Alvi, Javeria Raza; Efthymiou, Stephanie; Froukh, Tawfiq; Gulieva, Sughra; Guliyeva, Ulviyya; Hamdallah, Moath; Holder-Espinasse, Muriel; Kaiyrzhanov, Rauan; Klingler, Doreen; Koko, Mahmoud; Matthies, Lars; Park, Joohyun; Sturm, Marc; Velic, Ana; Spranger, Stephanie; Sultan, Tipu; Engels, Hartmut; Lerche, Holger; Houlden, Henry; Pagnamenta, Alistair T.; Borggraefe, Ingo; Weber, Yvonne; Bonnen, Penelope E.; Maroofian, Reza; Riess, Olaf; Weber, Jonasz J.; Philipp, Melanie; Haack, Tobias B. (2025)
  • Bi-allelic LETM1 variants perturb mitochondrial ion homeostasis leading to a clinical spectrum with predominant nervous system involvement
    Kaiyrzhanov, Rauan; Mohammed, Sami E. M.; Maroofian, Reza; Husain, Ralf A.; Catania, Alessia; Torraco, Alessandra; Alahmad, Ahmad; Dutra-Clarke, Marina; Gronborg, Sabine; Sudarsanam, Annapurna; Vogt, Julie; Arrigoni, Filippo; Baptista, Julia; Haider, Shahzad; Feichtinger, Rene G.; Bernardi, Paolo; Zulian, Alessandra; Gusic, Mirjana; Efthymiou, Stephanie; Bai, Renkui; Bibi, Farah; Horga, Alejandro; Martinez-Agosto, Julian A.; Lam, Amanda; Manole, Andreea; Rodriguez, Diego-Perez; Durigon, Romina; Pyle, Angela; Albash, Buthaina; Dionisi-Vici, Carlo; Murphy, David; Martinelli, Diego; Bugiardini, Enrico; Allis, Katrina; Lamperti, Costanza; Reipert, Siegfried; Risom, Lotte; Laugwitz, Lucia; Di Nottia, Michela; McFarland, Robert; Vilarinho, Laura; Hanna, Michael; Prokisch, Holger; Mayr, Johannes A.; Bertini, Enrico Silvio; Ghezzi, Daniele; Ostergaard, Elsebet; Wortmann, Saskia B.; Carrozzo, Rosalba; Haack, Tobias B.; Taylor, Robert W.; Spinazzola, Antonella; Nowikovsky, Karin; Houlden, Henry (2022)
  • Bi-allelic Loss-of-Function CACNA1B Mutations in Progressive Epilepsy-Dyskinesia
    Gorman, Kathleen M.; Meyer, Esther; Grozeva, Detelina; Spinelli, Egidio; McTague, Amy; Sanchis-Juan, Alba; Carss, Keren J.; Bryant, Emily; Reich, Adi; Schneider, Amy L.; Pressler, Ronit M.; Simpson, Michael A.; Debelle, Geoff D.; Wassmer, Evangeline; Morton, Jenny; Sieciechowicz, Diana; Jan-Kamsteeg, Eric; Paciorkowski, Alex R.; King, Mary D.; Cross, J. Helen; Poduri, Annapurna; Mefford, Heather C.; Scheffer, Ingrid E.; Haack, Tobias B.; McCullagh, Gary; Millichap, John J.; Carvill, Gemma L.; Clayton-Smith, Jill; Maher, Eamonn R.; Raymond, F. Lucy; Kurian, Manju A. (2019)