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Anzahl der Publikationen: 66

Zeitschriftenartikel

Brugger, Melanie; Lauri, Antonella; Zhen, Yan; Gramegna, Laura L.; Zott, Benedikt; Sekulic, Nikolina; Fasano, Giulia; Kopajtich, Robert; Cordeddu, Viviana; Radio, Francesca Clementina; Mancini, Cecilia; Pizzi, Simone; Paradisi, Graziamaria; Zanni, Ginevra; Vasco, Gessica; Carrozzo, Rosalba; Palombo, Flavia; Tonon, Caterina; Lodi, Raffaele; Morgia, Chiara La; Arelin, Maria; Blechschmidt, Cristiane; Finck, Tom; Sorensen, Vigdis; Kreiser, Kornelia; Strobl-Wildemann, Gertrud; Daum, Hagit; Michaelson-Cohen, Rachel; Ziccardi, Lucia; Zampino, Giuseppe; Prokisch, Holger; Jamra, Rami Abou; Fiorini, Claudio; Arzberger, Thomas; Winkelmann, Juliane; Caporali, Leonardo; Carelli, Valerio; Stenmark, Harald; Tartaglia, Marco und Wagner, Matias (2024): Bi-allelic variants in SNF8 cause a disease spectrum ranging from severe developmental and epileptic encephalopathy to syndromic optic atrophy. In: American Journal of Human Genetics, Bd. 111, Nr. 3 [PDF, 7MB]

Jacob, Maureen; Brugger, Melanie; Andres, Stephanie; Wagner, Matias; Graf, Elisabeth; Berutti, Riccardo; Tilch, Erik; Pavlov, Martin; Mayerhanser, Katharina; Hoefele, Julia; Meitinger, Thomas; Winkelmann, Juliane und Brunet, Theresa (2024): Genome Sequencing for Cases Unsolved by Exome Sequencing: Identifying a Single-Exon Deletion in TBCK in a Case from 30 Years Ago. In: Neuropediatrics

Harrer, Philip; Mirza‐Schreiber, Nazanin; Mandel, Vanessa; Roeber, Sigrun; Stefani, Ambra ORCID logoORCID: https://orcid.org/0000-0003-4259-8824; Naher, Shamsun; Wagner, Matias ORCID logoORCID: https://orcid.org/0000-0002-4454-8823; Gieger, Christian; Waldenberger, Melanie; Peters, Annette ORCID logoORCID: https://orcid.org/0000-0001-6645-0985; Högl, Birgit; Herms, Jochen; Schormair, Barbara ORCID logoORCID: https://orcid.org/0000-0003-0942-5243; Zhao, Chen; Winkelmann, Juliane und Oexle, Konrad ORCID logoORCID: https://orcid.org/0000-0001-7447-2252 (2023): Epigenetic Association Analyses and Risk Prediction of RLS. In: Movement Disorders, Bd. 38, Nr. 8: S. 1410-1418 [PDF, 685kB]

Harrer, Philip; Schalk, Audrey; Shimura, Masaru; Baer, Sarah; Calmels, Nadege; Spitz, Marie Aude; Warde, Marie-Therese Abi; Schaefer, Elise; Kittke, Volker M. Sc; Dincer, Yasemin; Wagner, Matias; Dzinovic, Ivana; Berutti, Riccardo; Sato, Tatsuharu; Shirakawa, Toshihiko; Okazaki, Yasushi; Murayama, Kei; Oexle, Konrad; Prokisch, Holger; Mall, Volker; Melcak, Ivo; Winkelmann, Juliane und Zech, Michael (2023): Recessive NUP54 Variants Underlie Early-Onset Dystonia with Striatal Lesions. In: Annals of Neurology, Bd. 93, Nr. 2: S. 330-335 [PDF, 1MB]

Weiß, Katharina J.; Berger, Ursula ORCID logoORCID: https://orcid.org/0000-0002-9809-4177; Haider, Maliha; Wagner, Matias; Märtner, E. M. Charlotte; Regenauer‐Vandewiele, Stephanie; Lotz‐Havla, Amelie; Schuhmann, Elfriede; Röschinger, Wulf und Maier, Esther M. (2023): Free carnitine concentrations and biochemical parameters in medium‐chain acyl‐CoA dehydrogenase deficiency: Genotype–phenotype correlation. In: Clinical Genetics, Bd. 103, Nr. 6: S. 644-654 [PDF, 1MB]

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 und Mirza-Schreiber, Nazanin (2023): Episignature analysis of moderate effects and mosaics. In: European Journal of Human Genetics, Bd. 31, Nr. 9: S. 1032-1039 [PDF, 1MB]

Lersch, Robert; Jannadi, Rawan; Grosse, Leonie; Wagner, Matias; Schneider, Marius Frederik; Stülpnagel, Celina von; Heinen, Florian; Potschka, Heidrun und Borggräfe, Ingo ORCID logoORCID: https://orcid.org/0000-0002-8484-5945 (2023): Targeted Molecular Strategies for Genetic Neurodevelopmental Disorders: Emerging Lessons from Dravet Syndrome. In: Neuroscientist, Bd. 29, Nr. 6: 732 –750 [PDF, 1MB]

Zech, Michael; Kopajtich, Robert; Steinbruecker, Katja; Bris, Celine; Gueguen, Naig; Feichtinger, Rene G.; Achleitner, Melanie T.; Duzkale, Neslihan; Perivier, Maximilien; Koch, Johannes; Engelhardt, Harald; Freisinger, Peter; Wagner, Matias; Brunet, Theresa; Berutti, Riccardo; Smirnov, Dmitrii; Navaratnarajah, Tharsini; Rodenburg, Richard J. T.; Pais, Lynn S.; Austin-Tse, Christina; O'Leary, Melanie; Boesch, Sylvia; Jech, Robert; Bakhtiari, Somayeh; Jin, Sheng Chih; Wilbert, Friederike; Kruer, Michael C.; Wortmann, Saskia B.; Eckenweiler, Matthias; Mayr, Johannes A.; Distelmaier, Felix; Steinfeld, Robert; Winkelmann, Juliane und Prokisch, Holger (2022): Variants in Mitochondrial ATP Synthase Cause Variable Neurologic Phenotypes. In: Annals of Neurology, Bd. 91, Nr. 2: S. 225-237 [PDF, 1MB]

Kreienkamp, Hans-Juergen; Wagner, Matias; Weigand, Heike; McConkie-Rossell, Allyn; McDonald, Marie; Keren, Boris; Mignot, Cyril; Gauthier, Julie; Soucy, Jean-Francois; Michaud, Jacques L.; Dumas, Meghan; Smith, Rosemarie; Löbel, Ulrike; Hempel, Maja; Kubisch, Christian; Denecke, Jonas; Campeau, Philippe M.; Bain, Jennifer M. und Lessel, Davor (2022): Variant-specific effects define the phenotypic spectrum of HNRNPH2-associated neurodevelopmental disorders in males. In: Human Genetics, Bd. 141, Nr. 2: S. 257-272

Kolarova, Hana; Tan, Jing; Strom, Tim M.; Meitinger, Thomas; Wagner, Matias und Klopstock, Thomas (2022): Lifetime risk of autosomal recessive neurodegeneration with brain iron accumulation (NBIA) disorders calculated from genetic databases. In: Ebiomedicine, Bd. 77, 103869 [PDF, 934kB]

Della Marina, Adela; Bertolini, Annikki; Wegener-Panzer, Andreas; Flotats-Bastardas, Marina; Reinhardt, Tabea; El Naggar, Ines; Distelmaier, Felix; Blaschek, Astrid; Schara-Schmidt, Ulrike; Brunet, Theresa; Wagner, Matias; Smirnov, Dimitri; Prokisch, Holger; Wortmann, Saskia B. und Rostasy, Kevin (2022): Mitochondrial diseases mimicking autoimmune diseases of the CNS and good response to steroids initially. In: European Journal of Paediatric Neurology, Bd. 41: S. 27-35

Westphal, Dominik S.; Mastantuono, Elisa; Seidel, Heide; Riedhammer, Korbinian M.; Hahn, Andreas; Vill, Katharina und Wagner, Matias (2022): There is more to it than just congenital heart defects - The phenotypic spectrum of TAB2-related syndrome. In: Gene, Bd. 814, 146167

Holtz, Alexander M.; VanCoillie, Rachel; Vansickle, Elizabeth A.; Carere, Deanna Alexis; Withrow, Kara; Torti, Erin; Juusola, Jane; Millan, Francisca; Person, Richard; Sacoto, Maria J. Guillen; Si, Yue; Wentzensen, Ingrid M.; Pugh, Jada; Vasileiou, Georgia; Rieger, Melissa; Reis, Andr Prime E.; Argilli, Emanuela; Sherr, Elliott H.; Aldinger, Kimberly A.; Dobyns, William B.; Brunet, Theresa; Hoefele, Julia; Wagner, Matias; Haber, Benjamin; Kotzaeridou, Urania; Keren, Boris; Heron, Delphine; Mignot, Cyril; Heide, Solveig; Courtin, Thomas; Buratti, Julien; Murugasen, Serini; Donald, Kirsten A.; O'Heir, Emily; Moody, Shade; Kim, Katherine H.; Burton, Barbara K.; Yoon, Grace; Del Campo, Miguel; Masser-Frye, Diane; Kozenko, Mariya; Parkinson, Christina; Sell, Susan L.; Gordon, Patricia L.; Prokop, Jeremy W.; Karaa, Amel; Bupp, Caleb und Raby, Benjamin A. (2022): Heterozygous variants in MYH10 associated with neurodevelopmental disorders and congenital anomalies with evidence for primary cilia-dependent defects in Hedgehog signaling. In: Genetics in Medicine, Bd. 24, Nr. 10: S. 2065-2078

Krenn, Martin; Tomschik, Matthias; Wagner, Matias; Zulehner, Gudrun; Weng, Rosa; Rath, Jakob; Klotz, Sigrid; Gelpi, Ellen; Bsteh, Gabriel; Keritam, Omar; Colonna, Isabella; Paternostro, Chiara; Jaeger, Fiona; Lindeck-Pozza, Elisabeth; Iglseder, Stephan; Grinzinger, Susanne; Schönfelder, Martina; Hohenwarter, Christina; Freimüller, Manfred; Embacher, Norbert; Wanschitz, Julia; Topakian, Raffi; Toepf, Ana; Straub, Volker; Quasthoff, Stefan; Zimprich, Fritz; Loescher, Wolfgang N. und Cetin, Hakan (2022): Clinico-genetic spectrum of limb-girdle muscular weakness in Austria: A multicentre cohort study. In: European Journal of Neurology, Bd. 29, Nr. 6: S. 1815-1824

Vogel, Florian D.; Krenn, Martin; Westphal, Dominik S.; Graf, Elisabeth; Wagner, Matias; Leiz, Steffen; Koniuszewski, Filip; Auge-Stock, Maximilian; Kramer, Georg; Scholze, Petra und Ernst, Margot (2022): A de novo missense variant in GABRA4 alters receptor function in an epileptic and neurodevelopmental phenotype. In: Epilepsia, Bd. 63, Nr. 4, E35-E41

Popp, Bernt; Brugger, Melanie; Poschmann, Sibylle; Bartolomaeus, Tobias; Radtke, Maximilian; Hentschel, Julia; Di Donato, Nataliya; Rump, Andreas; Gburek-Augustat, Janina; Graf, Elisabeth; Wagner, Matias; Sorge, Ina; Lemke, Johannes R.; Meitinger, Thomas; Abou Jamra, Rami; Strehlow, Vincent und Brunet, Theresa (2022): The constitutional gain-of-function variant p.Glu1099Lys in NSD2 is associated with a novel syndrome. In: Clinical Genetics, Bd. 103, Nr. 2: S. 226-230

Oeckl, Patrick; Anderl-Straub, Sarah; Danek, Adrian; Diehl-Schmid, Janine; Fassbender, Klaus; Fliessbach, Klaus; Halbgebauer, Steffen; Huppertz, Hans-Juergen; Jahn, Holger; Kassubek, Jan; Kornhuber, Johannes; Landwehrmeyer, Bernhard; Lauer, Martin; Prudlo, Johannes; Schneider, Anja; Schroeter, Matthias L.; Steinacker, Petra; Volk, Alexander E.; Wagner, Matias; Winkelmann, Juliane; Wiltfang, Jens; Ludolph, Albert C. und Otto, Markus (2022): Relationship of serum beta-synuclein with blood biomarkers and brain atrophy. In: Alzheimer'S & Dementia, Bd. 19, Nr. 4: S. 1358-1371

Bolsterli, Bigna K.; Boltshauser, Eugen; Palmieri, Luigi; Spenger, Johannes; Brunner-Krainz, Michaela; Distelmaier, Felix; Freisinger, Peter; Geis, Tobias; Gropman, Andrea L.; Haberle, Johannes; Hentschel, Julia; Jeandidier, Bruno; Karall, Daniela; Keren, Boris; Klabunde-Cherwon, Annick; Konstantopoulou, Vassiliki; Kottke, Raimund; Lasorsa, Francesco M.; Makowski, Christine; Mignot, Cyril; Tuura, Ruth O'Gorman; Porcelli, Vito; Santer, Rene; Sen, Kuntal; Steinbruecker, Katja; Syrbe, Steffen; Wagner, Matias; Ziegler, Andreas; Zoeggeler, Thomas; Mayr, Johannes A.; Prokisch, Holger und Wortmann, Saskia B. (2022): Ketogenic Diet Treatment of Defects in the Mitochondrial Malate Aspartate Shuttle and Pyruvate Carrier. In: Nutrients, Bd. 14, Nr. 17, 3605

Brunet, Theresa; Berutti, Riccardo; Dill, Veronika; Hecker, Judith S.; Choukair, Daniela; Andres, Stephanie; Deschauer, Marcus; Diehl-Schmid, Janine; Krenn, Martin; Eckstein, Gertrud; Graf, Elisabeth; Gasser, Thomas; Strom, Tim M.; Hoefele, Julia; Goetze, Katharina S.; Meitinger, Thomas und Wagner, Matias (2022): Clonal hematopoiesis as a pitfall in germline variant interpretation in the context of Mendelian disorders. In: Human Molecular Genetics, Bd. 31, Nr. 14: S. 2386-2395 [PDF, 544kB]

Yepez, Vicente A.; Gusic, Mirjana; Kopajtich, Robert; Mertes, Christian; Smith, Nicholas H.; Alston, Charlotte L.; Ban, Rui; Beblo, Skadi; Berutti, Riccardo; Blessing, Holger; Ciara, Elzbieta; Distelmaier, Felix; Freisinger, Peter; Haeberle, Johannes; Hayflick, Susan J.; Hempel, Maja; Itkis, Yulia S.; Kishita, Yoshihito; Klopstock, Thomas; Krylova, Tatiana D.; Lamperti, Costanza; Lenz, Dominic; Makowski, Christine; Mosegaard, Signe; Mueller, Michaela F.; Munoz-Pujol, Gerard; Nadel, Agnieszka; Ohtake, Akira; Okazaki, Yasushi; Procopio, Elena; Schwarzmayr, Thomas; Smet, Joel; Staufner, Christian; Stenton, Sarah L.; Strom, Tim M.; Terrile, Caterina; Tort, Frederic; Coster, Rudy van; Vanlander, Arnaud; Wagner, Matias; Xu, Manting; Fang, Fang; Ghezzi, Daniele; Mayr, Johannes A.; Piekutowska-Abramczuk, Dorota; Ribes, Antonia; Roetig, Agnes; Taylor, Robert W.; Wortmann, Saskia B.; Murayama, Kei; Meitinger, Thomas; Gagneur, Julien und Prokisch, Holger (2022): Clinical implementation of RNA sequencing for Mendelian disease diagnostics. In: Genome Medicine, Bd. 14, Nr. 1, 38 [PDF, 2MB]

Witzel, Simon; Wagner, Matias; Zhao, Chen; Kandler, Katharina; Graf, Elisabeth; Berutti, Riccardo; Oexle, Konrad; Brenner, David; Winkelmann, Juliane und Ludolph, Albert C. (2022): Fast versus slow disease progression in amyotrophic lateral sclerosis-clinical and genetic factors at the edges of the survival spectrum. In: Neurobiology of Aging, Bd. 119: S. 117-126

Skorvanek, Matej; Rektorova, Irena; Mandemakers, Wim; Wagner, Matias; Steinfeld, Robert; Orec, Laura; Han, Vladimir; Pavelekova, Petra; Lackova, Alexandra; Kulcsarova, Kristina; Ostrozovicova, Miriam; Gdovinova, Zuzana; Plecko, Barbara; Brunet, Theresa; Berutti, Riccardo; Kuipers, Demy J. S.; Boumeester, Valerie; Havrankova, Petra; Tijssen, M. A. J.; Kaiyrzhanov, Rauan; Rizig, Mie; Houlden, Henry; Winkelmann, Juliane; Bonifati, Vincenzo; Zech, Michael und Jech, Robert (2022): WARS2 mutations cause dopa-responsive early-onset parkinsonism and progressive myoclonus ataxia. In: Parkinsonism & Related Disorders, Bd. 94: S. 54-61

Mirza-Schreiber, Nazanin; Zech, Michael; Wilson, Rory; Brunet, Theresa; Wagner, Matias; Jech, Robert; Boesch, Sylvia; Skorvanek, Matej; Necpal, Jan; Weise, David; Weber, Sandrina; Mollenhauer, Brit; Trenkwalder, Claudia; Maier, Esther M.; Borggraefe, Ingo; Vill, Katharina; Hackenberg, Annette; Pilshofer, Veronika; Kotzaeridou, Urania; Schwaibold, Eva Maria Christina; Hoefele, Julia; Waldenberger, Melanie; Gieger, Christian; Peters, Annette; Meitinger, Thomas; Schormair, Barbara; Winkelmann, Juliane und Oexle, Konrad (2021): Blood DNA methylation provides an accurate biomarker of KMT2B-related dystonia and predicts onset. In: Brain, Bd. 145, Nr. 2: S. 644-654 [PDF, 1MB]

Stenton, Sarah L.; Sheremet, Natalia L.; Catarino, Claudia B.; Andreeva, Natalia A.; Assouline, Zahra; Barboni, Piero; Barel, Ortal; Berutti, Riccardo; Bychkov, Igor; Caporali, Leonardo; Capristo, Mariantonietta; Carbonelli, Michele; Cascavilla, Maria L.; Issa, Peter Charbel; Freisinger, Peter; Gerber, Sylvie; Ghezzi, Daniele; Graf, Elisabeth; Heidler, Juliana; Hempel, Maja; Heon, Elise; Itkis, Yulya S.; Javasky, Elisheva; Kaplan, Josseline; Kopajtich, Robert; Kornblum, Cornelia; Kovacs-Nagy, Reka; Krylova, Tatiana D.; Kunz, Wolfram S.; La Morgia, Chiara; Lamperti, Costanza; Ludwig, Christina; Malacarne, Pedro F.; Maresca, Alessandra; Mayr, Johannes A.; Meisterknecht, Jana; Nevinitsyna, Tatiana A.; Palombo, Flavia; Pode-Shakked, Ben; Shmelkova, Maria S.; Strom, Tim M.; Tagliavini, Francesca; Tzadok, Michal; Ven, Amelie T. van der; Vignal-Clermont, Catherine; Wagner, Matias; Zakharova, Ekaterina Y.; Zhorzholadze, Nino V.; Rozet, Jean-Michel; Carelli, Valerio; Tsygankova, Polina G.; Klopstock, Thomas ORCID logoORCID: https://orcid.org/0000-0003-2805-4652; Wittig, Ilka und Prokisch, Holger (2021): Impaired complex I repair causes recessive Leber's hereditary optic neuropathy. In: Journal of Clinical Investigation, Bd. 131, Nr. 6, e138267 [PDF, 6MB]

Vavassori, Stefano; Chou, Janet; Faletti, Laura Eva; Haunerdinger, Veronika; Opitz, Lennart; Joset, Pascal; Fraser, Christopher J.; Prader, Seraina; Gao, Xianfei; Schuch, Luise A.; Wagner, Matias; Hoefele, Julia; Maccari, Maria Elena; Zhu, Ying; Elakis, George; Gabbett, Michael T.; Forstner, Maria; Omran, Heymut; Kaiser, Thomas; Kessler, Christina; Olbrich, Heike; Frosk, Patrick; Almutairi, Abduarahman; Platt, Craig D.; Elkins, Megan; Weeks, Sabrina; Rubin, Tamar; Planas, Raquel; Marchetti, Tommaso; Koovely, Danil; Klambt, Verena; Soliman, Neveen A.; Hardenberg, Sandra von; Klemann, Christian; Baumann, Ulrich; Lenz, Dominic; Klein-Franke, Andreas; Schwemmle, Martin; Huber, Michael; Sturm, Ekkehard; Hartleif, Steffen; Haffner, Karsten; Gimpel, Charlotte; Brotschi, Barbara; Laube, Guido; Gungor, Tayfun; Buckley, Michael F.; Kottke, Raimund; Staufner, Christian; Hildebrandt, Friedhelm; Reu-Hofer, Simone; Moll, Solange; Weber, Achim; Kaur, Hundeep; Ehl, Stephan; Hiller, Sebastian; Geha, Raif; Roscioli, Tony; Griese, Matthias und Schmid, Jana Pachlopnik (2021): Multisystem inflammation and susceptibility to viral infections in human ZNFX1 deficiency. In: Journal of Allergy and Clinical Immunology, Bd. 148, Nr. 2: S. 381-393

Brunet, Theresa; Jech, Robert; Brugger, Melanie; Kovacs, Reka; Alhaddad, Bader; Leszinski, Gloria; Riedhammer, Korbinian M.; Westphal, Dominik S.; Mahle, Isabella; Mayerhanser, Katharina; Skorvanek, Matej; Weber, Sandrina; Graf, Elisabeth; Berutti, Riccardo; Necpal, Jan; Havrankova, Petra; Pavelekova, Petra; Hempel, Maja; Kotzaeridou, Urania; Hoffmann, Georg F.; Leiz, Steffen; Makowski, Christine; Roser, Timo; Schroeder, Sebastian A.; Steinfeld, Robert; Strobl-Wildemann, Gertrud; Hoefele, Julia; Borggraefe, Ingo; Distelmaier, Felix; Strom, Tim M.; Winkelmann, Juliane; Meitinger, Thomas; Zech, Michael und Wagner, Matias (2021): De novo variants in neurodevelopmental disorders-experiences from a tertiary care center. In: Clinical Genetics, Bd. 100, Nr. 1: S. 14-28 [PDF, 2MB]

Wagner, Matias; Lorenz, Georg; Volk, Alexander E.; Brunet, Theresa; Edbauer, Dieter; Berutti, Riccardo; Zhao, Chen; Anderl-Straub, Sarah; Bertram, Lars; Danek, Adrian ORCID logoORCID: https://orcid.org/0000-0001-8857-5383; Deschauer, Marcus; Dill, Veronika; Fassbender, Klaus; Fliessbach, Klaus; Goetze, Katharina S.; Jahn, Holger; Kornhuber, Johannes; Landwehrmeyer, Bernhard; Lauer, Martin; Obrig, Hellmuth; Prudlo, Johannes; Schneider, Anja; Schroeter, Matthias L.; Uttner, Ingo; Vukovich, Ruth; Wiltfang, Jens; Winkler, Andrea S.; Zhou, Qihui; Ludolph, Albert C.; Oexle, Konrad; Otto, Markus; Diehl-Schmid, Janine und Winkelmann, Juliane (2021): Clinico-genetic findings in 509 frontotemporal dementia patients. In: Molecular Psychiatry, Bd. 26, Nr. 10: S. 5824-5832 [PDF, 1MB]

Wortmann, Saskia B.; Zietkiewicz, Szymon; Guerrero-Castillo, Sergio; Feichtinger, Rene G.; Wagner, Matias; Russell, Jacqui; Ellaway, Carolyn; Mroz, Dagmara; Wyszkowski, Hubert; Weis, Denisa; Hannibal, Iris; Stuelpnagel, Celina von; Cabrera-Orefice, Alfredo; Lichter-Konecki, Uta; Gaesser, Jenna; Windreich, Randy; Myers, Kasiani C.; Lorsbach, Robert; Dale, Russell C.; Gersting, Soren; Prada, Carlos E.; Christodoulou, John; Wolf, Nicole I.; Venselaar, Hanka; Mayr, Johannes A. und Wevers, Ron A. (2021): Neutropenia and intellectual disability are hallmarks of biallelic and de novo CLPB deficiency. In: Genetics in Medicine, Bd. 23, Nr. 9: S. 1705-1714

Zech, Michael; Jech, Robert; Boesch, Sylvia; Skorvanek, Matej; Necpal, Jan; Svantnerova, Jana; Wagner, Matias; Sadr-Nabavi, Ariane; Distelmaier, Felix; Krenn, Martin; Serranova, Tereza; Rektorova, Irena; Havrankova, Petra; Mosejova, Alexandra; Prihodova, Iva; Sarlakova, Jana; Kulcsarova, Kristina; Ulmanova, Olga; Bechyne, Karel; Ostrozovicova, Miriam; Han, Vladimir; Ventosa, Joaquim Ribeiro; Brunet, Theresa; Berutti, Riccardo; Shariati, Mohammad; Shoeibi, Ali; Schneider, Susanne A.; Kuster, Alice; Baumann, Matthias; Weise, David; Wilbert, Friederike; Janzarik, Wibke G.; Eckenweiler, Matthias; Mall, Volker; Haslinger, Bernhard; Berweck, Steffen; Winkelmann, Juliane und Oexle, Konrad (2021): Scoring Algorithm-Based Genomic Testing in Dystonia: A Prospective Validation Study. In: Movement Disorders, Bd. 36, Nr. 8: S. 1959-1964 [PDF, 488kB]

Schalk, Audrey; Cousin, Margot A.; Dsouza, Nikita R.; Challman, Thomas D.; Wain, Karen E.; Powis, Zoe; Minks, Kelly; Trimouille, Aurélien ORCID logoORCID: https://orcid.org/0000-0002-3457-5684; Lasseaux, Eulalie; Lacombe, Didier; Angelini, Chloé; Michaud, Vincent; Van-Gils, Julien; Spataro, Nino; Ruiz, Anna ORCID logoORCID: https://orcid.org/0000-0001-7314-5962; Gabau, Elizabeth; Stolerman, Elliot ORCID logoORCID: https://orcid.org/0000-0001-9536-4621; Washington, Camerun; Louie, Ray; Lanpher, Brendan C.; Kemppainen, Jennifer L.; Innes, Micheil; Kooy, Frank ORCID logoORCID: https://orcid.org/0000-0003-2024-0485; Meuwissen, Marije; Goldenberg, Alice; Lecoquierre, Francois ORCID logoORCID: https://orcid.org/0000-0002-9110-1856; Vera, Gabriella; Diderich, Karin E. M.; Sheidley, Beth; El Achkar, Christelle Moufawad; Park, Meredith; Hamdan, Fadi F.; Michaud, Jacques L.; Lewis, Ann J; Zweier, Christiane; Reis, André ORCID logoORCID: https://orcid.org/0000-0002-6301-6363; Wagner, Matias ORCID logoORCID: https://orcid.org/0000-0002-4454-8823; Weigand, Heike; Journel, Hubert; Keren, Boris; Passemard, Sandrine ORCID logoORCID: https://orcid.org/0000-0002-0242-4566; Mignot, Cyril; Gassen, Koen van; Brilstra, Eva H.; Itzikowitz, Gina; O'Heir, Emily; Allen, Jake; Donald, Kirsten A.; Korf, Bruce Richard; Skelton, Tammi; Thompson, Michelle; Robin, Nathaniel H.; Rudy, Natasha L.; Dobyns, William B.; Foss, Kimberly; Zarate, Yuri Alexander; Bosanko, Katherine A.; Alembik, Yves; Durand, Benjamin; Tran Mau-them, Frederic ORCID logoORCID: https://orcid.org/0000-0002-3795-9456; Ranza, Emmanuelle; Blanc, Xavier; Antonarakis, Stylianos E.; McWalter, Kirsty; Torti, Erin; Millan, Francisca; Dameron, Amy; Tokita, Mari; Zimmermann, Michael T.; Klee, Eric W. ORCID logoORCID: https://orcid.org/0000-0003-2946-5795; Piton, Amelie ORCID logoORCID: https://orcid.org/0000-0003-0408-7468 und Gerard, Benedicte (2021): De novo coding variants in the AGO1 gene cause a neurodevelopmental disorder with intellectual disability. In: Journal of Medical Genetics, Bd. 59, Nr. 10: S. 965-975

Brunet, Theresa; McWalter, Kirsty; Mayerhanser, Katharina; Anbouba, Grace M.; Armstrong-Javors, Amy; Bader, Ingrid; Baugh, Evan; Begtrup, Amber; Bupp, Caleb P.; Callewaert, Bert L.; Cereda, Anna; Cousin, Margot A.; Jimenez, Juan C. Del Rey; Demmer, Laurie; Dsouza, Nikita R.; Fleischer, Nicole; Gavrilova, Ralitza H.; Ghate, Sumedha; Graf, Elisabeth; Green, Andrew; Green, Sarah R.; Iascone, Maria; Kdissa, Ameni; Klee, Dirk; Klee, Eric W.; Lancaster, Emily; Lindstrom, Kristin; Mayr, Johannes A.; McEntagart, Meriel; Meeks, Naomi J. L.; Mittag, Dana; Moore, Harrison; Olsen, Anne K.; Ortiz, Damara; Parsons, Gretchen; Pena, Loren D. M.; Person, Richard E.; Punj, Sumit; Ramos-Rivera, Gonzalo Alonso; Sacoto, Maria J. Guillen; Bradley Schaefer, G.; Schnur, Rhonda E.; Scott, Tiana M.; Scott, Daryl A.; Serbinski, Carolyn R.; Shashi, Vandana; Siu, Victoria M.; Stadheim, Barbro Fossoy; Sullivan, Jennifer A.; Svantnerova, Jana; Velsher, Lea; Wargowski, David S.; Wentzensen, Ingrid M.; Wieczorek, Dagmar; Winkelmann, Juliane; Yap, Patrick; Zech, Michael; Zimmermann, Michael T.; Meitinger, Thomas; Distelmaier, Felix und Wagner, Matias (2021): Defining the genotypic and phenotypic spectrum of X-linked MSL3-related disorder. In: Genetics in Medicine, Bd. 23, Nr. 2: S. 384-395 [PDF, 5MB]

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Kloeckner, Chiara; Sticht, Heinrich; Zacher, Pia; Popp, Bernt; Babcock, Holly E.; Bakker, Dewi P.; Barwick, Katy; Bonfert, Michaela; Bonnemann, Carsten G.; Brilstra, Eva H.; Chung, Wendy K.; Clarke, Angus J.; Devine, Patrick; Donkervoort, Sandra; Fraser, Jamie L.; Friedman, Jennifer; Gates, Alyssa; Ghoumid, Jamal; Hobson, Emma; Horvath, Gabriella; Keller-Ramey, Jennifer; Keren, Boris; Kurian, Manju A.; Lee, Virgina; Leppig, Kathleen A.; Lundgren, Johan; McDonald, Marie T.; McTague, Amy; Mefford, Heather C.; Mignot, Cyril; Mikati, Mohamad A.; Nava, Caroline; Raymond, F. Lucy; Sampson, Julian R.; Sanchis-Juan, Alba; Shashi, Vandana; Shieh, Joseph T. C.; Shinawi, Marwan; Slavotinek, Anne; Stodberg, Tommy; Stong, Nicholas; Sullivan, Jennifer A.; Taylor, Ashley C.; Toler, Tomi L.; Boogaard, Marie-Jose van den; Crabben, Saskia N. van der; Gassen, Koen L. I. van; Jaarsveld, Richard H. van; Ziffle, Jessica van; Wadley, Alexandrea F.; Wagner, Matias; Wigby, Kristen; Wortmann, Saskia B.; Zarate, Yuri A.; Moller, Rikke S.; Lemke, Johannes R. und Platzer, Konrad (2020): De novo variants in SNAP25 cause an early-onset developmental and epileptic encephalopathy. In: Genetics in Medicine, Bd. 23, Nr. 4: S. 653-660

Moorhouse, Frederik Jan; Cornell, Sonia; Gerstl, Lucia; Tacke, Moritz; Roser, Timo; Heinen, Florian; Bonfert, Michaela; Stülpnagel, Celina von; Wagner, Matias und Borggraefe, Ingo (2020): Cognitive performance and behavior across idiopathic/genetic epilepsies in children and adolescents. In: Scientific Reports, Bd. 10, Nr. 1, 21543 [PDF, 1MB]

Bryant, Laura; Li, Dong; Cox, Samuel G.; Marchione, Dylan; Joiner, Evan F.; Wilson, Khadija; Janssen, Kevin; Lee, Pearl; March, Michael E.; Nair, Divya; Sherr, Elliott; Fregeau, Brieana; Wierenga, Klaas J.; Wadley, Alexandrea; Mancini, Grazia M. S.; Powell-Hamilton, Nina; Kamp, Jiddeke van de; Grebe, Theresa; Dean, John; Ross, Alison; Crawford, Heather P.; Powis, Zoe; Cho, Megan T.; Willing, Marcia C.; Manwaring, Linda; Schot, Rachel; Nava, Caroline; Afenjar, Alexandra; Lessel, Davor; Wagner, Matias; Klopstock, Thomas; Winkelmann, Juliane; Catarino, Claudia B.; Retterer, Kyle; Schuette, Jane L.; Innis, Jeffrey W.; Pizzino, Amy; Luttgen, Sabine; Denecke, Jonas; Strom, Tim M.; Monaghan, Kristin G.; Yuan, Zuo-Fei; Dubbs, Holly; Bend, Renee; Lee, Jennifer A.; Lyons, Michael J.; Hoefele, Julia; Gunthner, Roman; Reutter, Heiko; Keren, Boris; Radtke, Kelly; Sherbini, Omar; Mrokse, Cameron; Helbig, Katherine L.; Odent, Sylvie; Cogne, Benjamin; Mercier, Sandra; Bezieau, Stephane; Besnard, Thomas; Kury, Sebastien; Redon, Richard; Reinson, Karit; Wojcik, Monica H.; Ounap, Katrin; Ilves, Pilvi; Innes, A. Micheil; Kernohan, Kristin D.; Costain, Gregory; Meyn, M. Stephen; Chitayat, David; Zackai, Elaine; Lehman, Anna; Kitson, Hilary; Martin, Martin G.; Martinez-Agosto, Julian A.; Nelson, Stan F.; Palmer, Christina G. S.; Papp, Jeanette C.; Parker, Neil H.; Sinsheimer, Janet S.; Vilain, Eric; Wan, Jijun; Yoon, Amanda J.; Zheng, Allison; Brimble, Elise; Ferrero, Giovanni Battista; Radio, Francesca Clementina; Carli, Diana; Barresi, Sabina; Brusco, Alfredo; Tartaglia, Marco; Thomas, Jennifer Muncy; Umana, Luis; Weiss, Marjan M.; Gotway, Garrett; Stuurman, K. E.; Thompson, Michelle L.; McWalter, Kirsty; Stumpel, Constance T. R. M.; Stevens, Servi J. C.; Stegmann, Alexander P. A.; Tveten, Kristian; Vollo, Arve; Prescott, Trine; Fagerberg, Christina; Laulund, Lone Walentin; Larsen, Martin J.; Byler, Melissa; Lebel, Robert Roger; Hurst, Anna C.; Dean, Joy; Vergano, Samantha A. Schrier; Norman, Jennifer; Mercimek-Andrews, Saadet; Neira, Juanita; Allen, Margot van; Longo, Nicola; Sellars, Elizabeth; Louie, Raymond J.; Cathey, Sara S.; Brokamp, Elly; Heron, Delphine; Snyder, Molly; Vanderver, Adeline; Simon, Celeste; de la Cruz, Xavier; Padilla, Natalia; Crump, J. Gage; Chung, Wendy; Garcia, Benjamin; Hakonarson, Hakon H. und Bhoj, Elizabeth J. (2020): Histone H3.3 beyond cancer: Germline mutations in Histone 3 Family 3A and 3B cause a previously unidentified neurodegenerative disorder in 46 patients. In: Science Advances, Bd. 6, Nr. 49, eabc9207 [PDF, 703kB]

Radelfahr, Florentine; Riedhammer, Korbinian M.; Keidel, Leonie F.; Gramer, Gwendolyn; Meitinger, Thomas; Klopstock, Thomas und Wagner, Matias (2020): Biotinidase deficiency: A treatable cause of hereditary spastic paraparesis. In: Neurology-Genetics, Bd. 6, Nr. 6, e525 [PDF, 187kB]

Riedhammer, Korbinian M.; Braunisch, Matthias C.; Guenthner, Roman; Wagner, Matias; Hemmer, Clara; Strom, Tim M.; Schmaderer, Christoph; Renders, Lutz; Tasic, Velibor; Gucev, Zoran; Nushi-Stavileci, Valbona; Putnik, Jovana; Stajic, Natasa; Weidenbusch, Marc; Uetz, Barbara; Montoya, Carmen; Strotmann, Peter; Ponsel, Sabine; Lange-Sperandio, Baerbel und Hoefele, Julia (2020): Exome Sequencing and Identification of Phenocopies in Patients With Clinically Presumed Hereditary Nephropathies. In: American Journal of Kidney Diseases, Bd. 76, Nr. 4: S. 460-470

Licata, Abigail; Grimmer, Timo; Winkelmann, Juliane; Wagner, Matias; Goldhardt, Oliver; Riedl, Lina; Rossmeier, Carola; Yakushev, Igor und Diehl-Schmid, Janine (2020): Variability of clinical syndromes and cerebral glucose metabolism in symptomatic frontotemporal lobar degeneration associated with progranulin mutations. In: Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration, Bd. 21: S. 389-395

Zech, Michael; Wagner, Matias; Schormair, Barbara; Oexle, Konrad und Winkelmann, Juliane (2019): Exomdiagnostik in der Neurologie. In: Nervenarzt, Bd. 90, Nr. 2: S. 131-137 [PDF, 401kB]

Khan, Kamal; Zech, Michael; Morgan, Angela T.; Amor, David J.; Skorvanek, Matej; Khan, Tahir N.; Hildebrand, Michael S.; Jackson, Victoria E.; Scerri, Thomas S.; Coleman, Matthew; Rigbye, Kristin A.; Scheffer, Ingrid E.; Bahlo, Melanie; Wagner, Matias; Lam, Daniel D.; Berutti, Riccardo; Havrankova, Petra; Fecikova, Anna; Strom, Tim M.; Han, Vladimir; Dosekova, Petra; Gdovinova, Zuzana; Laccone, Franco; Jameel, Muhammad; Mooney, Marie R.; Baig, Shahid M.; Jech, Robert; Davis, Erica E.; Katsanis, Nicholas und Winkelmann, Juliane (2019): Recessive variants in ZNF142 cause a complex neurodevelopmental disorder with intellectual disability, speech impairment, seizures, and dystonia. In: Genetics in Medicine, Bd. 21, Nr. 11: S. 2532-2542 [PDF, 308kB]

Diets, Illja J.; van der Donk, Roos; Baltrunaite, Kristina; Waanders, Esme; Reijnders, Margot R. F.; Dingemans, Alexander J. M.; Pfundt, Rolph; Vulto-van Silfhout, Anneke T.; Wiel, Laurens; Gilissen, Christian; Thevenon, Julien; Perrin, Laurence; Afenjar, Alexandra; Nava, Caroline; Keren, Boris; Bartz, Sarah; Peri, Bethany; Beunders, Gea; Verbeek, Nienke; van Gassen, Koen; Thiffault, Isabelle; Cadieux-Dion, Maxime; Huerta-Saenz, Lina; Wagner, Matias; Konstantopoulou, Vassiliki; Vodopiutz, Julia; Griese, Matthias; Boel, Annekatrien; Callewaert, Bert; Brunner, Han G.; Kleefstra, Tjitske; Hoogerbrugge, Nicoline; de Vries, Bert B. A.; Hwa, Vivian; Dauber, Andrew; Hehir-Kwa, Jayne Y.; Kuiper, Roland P. und Jongmans, Marjolijn C. J. (2019): De Novo and Inherited Pathogenic Variants in KDM3B Cause Intellectual Disability, Short Stature, and Facial Dysmorphism. In: American Journal of Human Genetics, Bd. 104, Nr. 4: S. 758-766

Wagner, Matias; Osborn, Daniel P. S.; Gehweiler, Ina; Nagel, Maike; Ulmer, Ulrike; Bakhtiari, Somayeh; Amouri, Rim; Boostani, Reza; Hentati, Faycal; Hockley, Maryam M.; Hoelbling, Benedikt; Schwarzmayr, Thomas; Karimiani, Ehsan Ghayoor; Kernstock, Christoph; Maroofian, Reza; Müller-Felber, Wolfgang; Ozkan, Ege; Padilla-Lopez, Sergio; Reich, Selina; Reichbauer, Jennifer; Darvish, Hossein; Shahmohammadibeni, Neda; Tafakhori, Abbas; Vill, Katharina; Zuchner, Stephan; Kruer, Michael C.; Winkelmann, Juliane; Jamshidi, Yalda und Schuele, Rebecca (2019): Bi-allelic variants in RNF170 are associated with hereditary spastic paraplegia. In: Nature Communications, Bd. 10, 4790 [PDF, 2MB]

Stendel, Claudia; Wagner, Matias; Rudolph, Guenther und Klopstock, Thomas (2019): Gillespie's Syndrome with Minor Cerebellar Involvement and No Intellectual Disability Associated with a Novel ITPR1 Mutation: Report of a Case and Literature Review. In: Neuropediatrics, Bd. 50, Nr. 6: S. 382-386

Götzl, Julia K.; Brendel, Matthias; Werner, Georg; Parhizkar, Samira; Monasor, Laura Sebastian; Kleinberger, Gernot; Colombo, Alessio‐Vittorio; Deussing, Maximilian; Wagner, Matias; Winkelmann, Juliane; Diehl‐Schmid, Janine; Levin, Johannes; Fellerer, Katrin; Reifschneider, Anika; Bultmann, Sebastian; Bartenstein, Peter; Rominger, Axel; Tahirovic, Sabina; Smith, Scott T.; Madore, Charlotte; Butovsky, Oleg; Capell, Anja und Haass, Christian (2019): Opposite microglial activation stages upon loss of PGRN or TREM2 result in reduced cerebral glucose metabolism. In: Embo Molecular Medicine, Bd. 11, Nr. 6 [PDF, 1MB]

Günthner, Roman; Wagner, Matias; Thurm, Tobias; Ponsel, Sabine; Hoefele, Julia und Lange-Sperandio, Baerbel (2018): Identification of co-occurrence in a patient with Dent's disease and ADA2-deficiency by exome sequencing. In: Gene, Bd. 649: S. 23-26

Xu, Zhiwen; Lo, Wing-Sze; Beck, David B.; Schuch, Luise A.; Olahova, Monika; Kopajtich, Robert; Chong, Yeeting E.; Alston, Charlotte L.; Seidl, Elias; Zhai, Liting; Lau, Ching-Fun; Timchak, Donna; LeDuc, Charles A.; Borczuk, Alain C.; Teich, Andrew F.; Juusola, Jane; Sofeso, Christina; Müller, Christoph; Pierre, Germaine; Hilliard, Tom; Turnpenny, Peter D.; Wagner, Matias; Kappler, Matthias; Brasch, Frank; Bouffard, John Paul; Nangle, Leslie A.; Yang, Xiang-Lei; Zhang, Mingjie; Taylor, Robert W.; Prokisch, Holger; Griese, Matthias; Chung, Wendy K. und Schimmel, Paul (2018): Bi-allelic Mutations in Phe-tRNA Synthetase Associated with a Multi-system Pulmonary Disease Support Non-translational Function. In: American Journal of Human Genetics, Bd. 103, Nr. 1: S. 100-114

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