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Matias Wagner

technical university of munich

37H-index
255Paper Count
4.6KCitation Count
Published Papers 122
Publication Date
Prominent Movement Disorders in RNU2-2-Related Spliceosomopathy
err2026-05-27
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errOAAI
errMagdalena Krygier; Ugo Sorrentino; Matias Wagner; Marta Zawadzka; Anna Lemska; Maria Mazurkiewicz-Bełdzińska; Michael Zech
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Bi-allelic variants in NDUFA5 cause a mitochondriopathy with complex I deficiency
err2026-03-30
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errOAAI
errNatalie B. Tan; Matthias Gautschi; Michael Raum; Daniella H. Hock; Robert Kopajtich; Jia Wang; Xiao Qian; Tanavi Sharma; Timothy E. Green; Jean-Marc Nuoffer; Katrina M. Bell; Katarzyna Pospieszny; Tegan Stait; Chloe Pike; Michelle Cao; Susan M. White; David R. Thorburn; Theresa Brunet; Matias Wagner; Wolfgang Müller-Felber
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Fibroblast Transcriptomics in Molecular Diagnostics of a Comprehensive Dystonia Cohort
err2026-02-02
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errAlice Saparov MSc; Ivana Dzinovic PhD; Theresa Brunet MD; Vicente A. Yépez PhD; Florian Hölzlwimmer PhD; Elisabetta Indelicato MD; Birgit Assmann MD; Susann Badmann MD; Diana Ballhausen MD; Steffen Berweck MD; Felix Brechtmann PhD; Melanie Brugger MD; Kevork Derderian MSc; Felix Distelmaier MD; Philip Harrer MD, PhD; Denisa Harvanova PhD; Petra Havrankova MD, PhD; Ann-Kathrin Jaroszynski; Miriam Kolnikova MD; Robert Kopajtich MSc; Anne Koy MD; Magdalena Krygier MD; Lukas Kunc MD; Katarina Kusikova MD; Oliver Maier MD; Maria Mazurkiewicz-Bełdzińska MD; Christian Mertes PhD; Ava Oberlack MD; Timo Roser MD; Alexandra Sitzberger MD; Ugo Sorrentino MD; Antonia M. Stehr MD; Katharina Vill MD; Matias Wagner MD; Holger Prokisch PhD; Sylvia Boesch MD, PhD; Jan Necpal MD, PhD; Robert Jech MD, PhD; Juliane Winkelmann MD; Elisabeth Graf PhD; Julien Gagneur PhD; Matej Skorvanek MD, PhD; Michael Zech MD
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Dermatomyositis masking late onset Pompe disease in a patient with proximal muscle weakness
err2025-10-22
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errOmar Keritam; Philipp Haas; Sigrid Klotz; Kastriot Kastrati; Martin Krenn; Matias Wagner; Timothy Hasenoehrl; Rosa Weng; Gudrun Zulehner; Gregor Kasprian; Günther Regelsberger; Hans Kiener; Ellen Gelpi; Fritz Zimprich; Hakan Cetin; Thomas Scherer; Suren Jengojan
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The clinical and molecular spectrum of the KDM6B-related neurodevelopmental disorder
err2025-10-18
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PREAI
errDmitrijs Rots; Taryn E. Jakub; Crystal Keung; Adam Jackson; Siddharth Banka; Rolph Pfundt; Bert B.A. de Vries; Richard H. van Jaarsveld; Saskia M.J. Hopman; Ellen van Binsbergen; Irene Valenzuela; Maja Hempel; Tatjana Bierhals; Fanny Kortüm; Francois Lecoquierre; Alice Goldenberg; Jens Michael Hertz; Charlotte Brasch Andersen; Maria Kibæk; Eloise J. Prijoles; Roger E. Stevenson; David B. Everman; Wesley G. Patterson; Linyan Meng; Charul Gijavanekar; Karl De Dios; Shenela Lakhani; Tess Levy; Matias Wagner; Dagmar Wieczorek; Paul J. Benke; María Soledad Lopez Garcia; Renee Perrier; Sergio B. Sousa; Pedro M. Almeida; Maria José Simões; Bertrand Isidor; Wallid Deb; Andrew A. Schmanski; Omar Abdul-Rahman; Christophe Philippe; Ange-Line Bruel; Laurence Faivre; Antonio Vitobello; Christel Thauvin; Jeroen J. Smits; Livia Garavelli; Stefano G. Caraffi; Francesca Peluso; Laura Davis-Keppen; Dylan Platt; Erin Royer; Lisette Leeuwen; Margje Sinnema; Alexander P.A. Stegmann; Constance T.R.M. Stumpel; George E. Tiller; Daniëlle G.M. Bosch; Stephanus T. Potgieter; Shelagh Joss; Miranda Splitt; Simon Holden; Matina Prapa; Nicola Foulds; Sofia Douzgou; Kaija Puura; Regina Waltes; Andreas G. Chiocchetti; Christine M. Freitag; F. Kyle Satterstrom; Silvia De Rubeis; Joseph Buxbaum; Bruce D. Gelb; Aleksic Branko; Itaru Kushima; Jennifer Howe; Stephen W. Scherer; Alessia Arado; Chiara Baldo; Olivier Patat; Demeer Bénédicte; Diego Lopergolo; Filippo M. Santorelli; Tobias B. Haack; Andreas Dufke; Miriam Bertrand; Ruth J. Falb; Angelika Rieß; Peter Krieg; Stephanie Spranger; Maria Francesca Bedeschi; Maria Iascone; Sarah Josephi-Taylor; Tony Roscioli; Michael F. Buckley; Jan Liebelt; Aditi I. Dagli; Emmelien Aten; Anna C.E. Hurst; Alesha Hicks; Mohnish Suri; Ermal Aliu; Sunil Naik; Richard Sidlow; Juliette Coursimault; Gaël Nicolas; Hanna Küpper; Florence Petit; Veyan Ibrahim; Deniz Top; Francesca Di Cara; Raymond J. Louie; Elliot Stolerman; Han G. Brunner; Lisenka E.L.M. Vissers; Jamie M. Kramer; Tjitske Kleefstra
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De Novo Variants in PPFIA2 in Individuals With Neurodevelopmental Disorders
err2025-10-01
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errOAAI
errBrunet, Theresa; Zech, Michael; Schatz, Ulrich A.; Adamovicova, Miriam; Wagner, Matias; Graf, Elisabeth; Berutti, Riccardo; Weigand, Heike; Jech, Robert; Meitinger, Thomas; Winkelmann, Juliane; Brugger, Melanie
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AlphaMissense prediction for the evaluation of missense variants in the diagnostic setting of neuromuscular disorders
err2025-09-05
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errOAAI
errMartin Krenn; Axel Schmidt; Matias Wagner; Margot Ernst; Elisabeth Graf; Gudrun Zulehner; Hakan Cetin; Fritz Zimprich; Jakob Rath
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Integrating Long-Read Nanopore Sequencing for Precision Resolution of Genomic Variants in Dystonia
err2025-09-01
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errOAAI
errSorrentino, Ugo; Pavlov, Martin; Mirza-Schreiber, Nazanin; Brugger, Melanie; Brunet, Theresa; Tsoma, Eugenia; Saparov, Alice; Dzinovic, Ivana; Harrer, Philip; Stehr, Antonia M.; Wagner, Matias; Tilch, Erik; Wallacher, Barbara; Alhasan, Shiraz; Koy, Anne; Di Fonzo, Alessio; Kolnikova, Miriam; Kusikova, Katarina; Havrankova, Petra; Tautanova, Raushana; Losecke, Sandy; Eck, Sebastian; Boesch, Sylvia; Necpal, Jan; Skorvanek, Matej; Jech, Robert; Prokisch, Holger; Winkelmann, Juliane; Oexle, Konrad; Graf, Elisabeth; Zech, Michael
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ADAM23 haploinsufficiency as a putative oligogenic contributor in an individual with focal epilepsy
err2025-08-23
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PREAI
errMartin Krenn; Karl-Heinz Nenning; Susanne Aull-Watschinger; Ekaterina Pataraia; Matias Wagner; Fritz Zimprich
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Author Correction: Next-generation phenotyping integrated in a national framework for patients with ultrarare disorders improves genetic diagnostics and yields new molecular findings
err2025-06-24
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errOAAI
errAxel Schmidt; Magdalena Danyel; Kathrin Grundmann; Theresa Brunet; Hannah Klinkhammer; Tzung-Chien Hsieh; Hartmut Engels; Sophia Peters; Alexej Knaus; Shahida Moosa; Luisa Averdunk; Felix Boschann; Henrike Lisa Sczakiel; Sarina Schwartzmann; Martin Atta Mensah; Jean Tori Pantel; Manuel Holtgrewe; Annemarie Bösch; Claudia Weiß; Natalie Weinhold; Aude-Annick Suter; Corinna Stoltenburg; Julia Neugebauer; Tillmann Kallinich; Angela M. Kaindl; Susanne Holzhauer; Christoph Bührer; Philip Bufler; Uwe Kornak; Claus-Eric Ott; Markus Schülke; Hoa Huu Phuc Nguyen; Sabine Hoffjan; Corinna Grasemann; Tobias Rothoeft; Folke Brinkmann; Nora Matar; Sugirthan Sivalingam; Claudia Perne; Elisabeth Mangold; Martina Kreiss; Kirsten Cremer; Regina C. Betz; Martin Mücke; Lorenz Grigull; Thomas Klockgether; Isabel Spier; André Heimbach; Tim Bender; Fabian Brand; Christiane Stieber; Alexandra Marzena Morawiec; Pantelis Karakostas; Valentin S. Schäfer; Sarah Bernsen; Patrick Weydt; Sergio Castro-Gomez; Ahmad Aziz; Marcus Grobe-Einsler; Okka Kimmich; Xenia Kobeleva; Demet Önder; Hellen Lesmann; Sheetal Kumar; Pawel Tacik; Meghna Ahuja Bhasin; Pietro Incardona; Min Ae Lee-Kirsch; Reinhard Berner; Catharina Schuetz; Julia Körholz; Tanita Kretschmer; Nataliya Di Donato; Evelin Schröck; André Heinen; Ulrike Reuner; Amalia-Mihaela Hanßke; Frank J. Kaiser; Eva Manka; Martin Munteanu; Alma Kuechler; Kiewert Cordula; Raphael Hirtz; Elena Schlapakow; Christian Schlein; Jasmin Lisfeld; Christian Kubisch; Theresia Herget; Maja Hempel; Christina Weiler-Normann; Kurt Ullrich; Christoph Schramm; Cornelia Rudolph; Franziska Rillig; Maximilian Groffmann; Ania Muntau; Alexandra Tibelius; Eva M. C. Schwaibold; Christian P. Schaaf; Michal Zawada; Lilian Kaufmann; Katrin Hinderhofer; Pamela M. Okun; Urania Kotzaeridou; Georg F. Hoffmann; Daniela Choukair; Markus Bettendorf; Malte Spielmann; Annekatrin Ripke; Martje Pauly; Alexander Münchau; Katja Lohmann; Irina Hüning; Britta Hanker; Tobias Bäumer; Rebecca Herzog; Yorck Hellenbroich; Dominik S. Westphal; Tim Strom; Reka Kovacs; Korbinian M. Riedhammer; Katharina Mayerhanser; Elisabeth Graf; Melanie Brugger; Julia Hoefele; Konrad Oexle; Nazanin Mirza-Schreiber; Riccardo Berutti; Ulrich Schatz; Martin Krenn; Christine Makowski; Heike Weigand; Sebastian Schröder; Meino Rohlfs; Katharina Vill; Fabian Hauck; Ingo Borggraefe; Wolfgang Müller-Felber; Ingo Kurth; Miriam Elbracht; Cordula Knopp; Matthias Begemann; Florian Kraft; Johannes R. Lemke; Julia Hentschel; Konrad Platzer; Vincent Strehlow; Rami Abou Jamra; Martin Kehrer; German Demidov; Stefanie Beck-Wödl; Holm Graessner; Marc Sturm; Lena Zeltner; Ludger J. Schöls; Janine Magg; Andrea Bevot; Christiane Kehrer; Nadja Kaiser; Ernest Turro; Denise Horn; Annette Grüters-Kieslich; Christoph Klein; Stefan Mundlos; Markus Nöthen; Olaf Riess; Thomas Meitinger; Heiko Krude; Peter M. Krawitz; Tobias Haack; Nadja Ehmke; Matias Wagner
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Deciphering DST-associated disorders: biallelic variants affecting DST-b cause a congenital myopathy
errBrain
IF11.7
err2025-06-11
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PREAI
errMaureen Jacob; Heike Kölbel; Philip Harrer; Robert Kopajtich; Pinki Munot; Melanie T Achleitner; Susann Badmann; Melanie Brugger; Theresa Brunet; Gisèle Bonne; Marta Codina; Laura Ebner; Peyman Eshraghi; Katharina Eyring; Ahmad Shah Farhat; René G Feichtinger; Elisabeth Graf; Anna Marcé-Grau; Andreas Hahn; Henry Houlden; Ehsan Ghayoor Karimiani; Véronique Manel; Katharina Mayerhanser; Juliette Nectoux; Isabelle Nelson; Rahul Phadke; Holger Prokisch; Saeid Sadeghian; Alice Saparov; Anne Schänzer; Ulrike Schara-Schmidt; Julia Schmidt; Rahel Schuler; Caroline Sewry; Gholamreza Shariati; Silke Slanz; Dmitrii Smirnov; Rivka Sukenik-Halevy; Homa Tajsharghi; Mehran Beiraghi Toosi; Laura Trujillano; Joachim Weis; Louise C Wilson; Rabah Ben Yaou; Mina Zamani; Michael Zech; Jana Zschüntzsch; Uwe Kornak; David Goméz-Andrés; Reza Maroofian; Juliane Winkelmann; Andreas Roos; Felix Distelmaier; Johannes A Mayr; Matias Wagner
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Estimating Lifetime Risk of Autosomal Recessive Kidney Diseases Using Population-Based Genotypic Data
err2025-04-21
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errOAAI
errMatthias Christoph Braunisch; Clara M. Großewinkelmann; Martin Menke; Nora Hannane; Riccardo Berutti; Jasmina Ćomić; Roman Günthner; Lutz Renders; Christoph Schmaderer; Uwe Heemann; Korbinian M. Riedhammer; Matias Wagner; Julia Hoefele
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DNA-binding affinity and specificity determine the phenotypic diversity in BCL11B-related disorders
err2025-02-01
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errOAAI
errLessel, Ivana; Baresic, Anja; Chinn, Ivan K.; May, Jonathan; Goenka, Anu; Chandler, Kate E.; Posey, Jennifer E.; Afenjar, Alexandra; Averdunk, Luisa; Bedeschi, Maria Francesca; Besnard, Thomas; Brager, Rae; Brick, Lauren; Brugger, Melanie; Brunet, Theresa; Byrne, Susan; de la Calle-Martin, Oscar; Capra, Valeria; Cardenas, Paul; Chappe, Celine; Chong, Hey J.; Cogne, Benjamin; Conboy, Erin; Cope, Heidi; Courtin, Thomas; Deb, Wallid; Dilena, Robertino; Dubourg, Christele; Elgizouli, Magdeldin; Fernandes, Erica; Fitzgerald, Kristi K.; Gangi, Silvana; George-Abraham, Jaya K.; Gucsavas-Calikoglu, Muge; Haack, Tobias B.; Hadonou, Medard; Hanker, Britta; Huning, Irina; Iascone, Maria; Isidor, Bertrand; Jarvela, Irma; Jin, Jay J.; Jorge, Alexander A. L.; Josifova, Dragana; Kalinauskiene, Ruta; Kamsteeg, Erik-Jan; Keren, Boris; Kessler, Elena; Koelbel, Heike; Kozenko, Mariya; Kubisch, Christian; Kuechler, Alma; Leal, Suzanne M.; Leppala, Juha; Luu, Sharon M.; Lyon, Gholson J.; Madan-Khetarpal, Suneeta; Mancardi, Margherita; Marchi, Elaine; Mehta, Lakshmi; Menendez, Beatriz; Morel, Chantal F.; Harasink, Sue Moyer; Nevay, Dayna-Lynn; Nigro, Vincenzo; Odent, Sylvie; Oegema, Renske; Pappas, John; Pastore, Matthew T.; Perilla-Young, Yezmin; Platzer, Konrad; Powell-Hamilton, Nina; Rabin, Rachel; Rekab, Aisha; Rezende, Raissa C.; Robert, Leema; Romano, Ferruccio; Scala, Marcello; Poths, Karin; Schrauwen, Isabelle; Sebastian, Jessica; Short, John; Sidlow, Richard; Sullivan, Jennifer; Szakszon, Katalin; Tan, Queenie K. G.; Wagner, Matias; Wieczorek, Dagmar; Yuan, Bo; Maeding, Nicole; Strunk, Dirk; Begtrup, Amber; Banka, Siddharth; Lupski, James R.; Tolosa, Eva; Lessel, Davor
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RICTOR variants are associated with neurodevelopmental disorders
err2024-12-30
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PREAI
errCarapito, Raphael; Molitor, Anne; Pavinato, Lisa; Skeyni, Alaa; Lambert, Magalie; Pichot, Angelique; Jiang, Jiuhong; Spinnhirny, Perrine; Zimmermann, Lucie; Boucher, Philippe; Chung, Clara W. T.; Elserafy, Noha; Blair, Edward M.; Li, Dong; Elisabeth, Bhoj; Kotzaeridou, Urania; Karch, Stephanie; Wagner, Matias; Lunsing, Roelineke J.; Pfundt, Rolph; Boycott, Kym M.; Bruel, Ange-Line; Mau-Them, Frederic Tran; Moutton, Sebastien; Conti, Valerio; Mei, Davide; Cetica, Valentina; Guerrini, Renzo; Brunet, Theresa; Rump, Patrick; Mussa, Alessandro; Brusco, Alfredo; Lemire, Gabrielle; de Vries, Bert B. A.; Miao, Zhichao; Isidor, Bertrand; Bahram, Seiamak
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Biallelic Loss of Function Variants in SENP7 Cause Immunodeficiency fi ciency with Neurologic and Muscular Phenotypes
err2024-11-01
err2
PREAI
errKobayashi, Erica Sanford; Lotan, Nava Shaul; Schejter, Yael Dinur; Makowski, Christine; Kraus, Verena; Ramchandar, Nanda; Meiner, Vardiella; Thiffault, Isabelle; Farrow, Emily; Cakici, Julie; Kingsmore, Stephen; Wagner, Matias; Rieber, Nikolaus; Bainbridge, Matthew
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Biallelic loss-of-function variants of ZFTRAF1 cause neurodevelopmental disorder with microcephaly and hypotonia
err2024-07-01
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errOAAI
errAsif, Maria; Khayyat, Arwa Ishaq A.; Alawbathani, Salem; Abdullah, Uzma; Sanner, Anne; Georgomanolis, Theodoros; Haasters, Judith; Becker, Kerstin; Budde, Birgit; Becker, Christian; Thiele, Holger; Baig, Shahid M.; Isidoro-Garcia, Maria; Winter, Dominic; Pogoda, Hans -Martin; Muhammad, Sajjad; Hammerschmidt, Matthias; Kraft, Florian; Kurth, Ingo; Martin, Hilario Gomez; Wagner, Matias; Nuernberg, Peter; Hussain, Muhammad Sajid
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Neurofilaments and progranulin are related to atrophy in frontotemporal lobar degeneration - A transdiagnostic study cross-validating atrophy and fluid biomarkers
err2024-06-12
err2
errOAAI
errHueper, Lea; Steinacker, Petra; Polyakova, Maryna; Mueller, Karsten; Godulla, Jannis; Herzig, Sabine; Danek, Adrian; Engel, Annerose; Diehl-Schmid, Janine; Classen, Joseph; Fassbender, Klaus; Fliessbach, Klaus; Jahn, Holger; Kassubek, Jan; Kornhuber, Johannes; Landwehrmeyer, Bernhard; Lauer, Martin; Obrig, Hellmuth; Oeckl, Patrick; Prudlo, Johannes; Saur, Dorothee; Anderl-Straub, Sarah; Synofzik, Matthis; Wagner, Matias; Wiltfang, Jens; Winkelmann, Juliane; Volk, Alexander E.; Huppertz, Hans-Juergen; Otto, Markus; Schroeter, Matthias L.
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A syndromic neurodevelopmental disorder caused by rare variants in PPFIA3 (vol 111, pg 96, 2024)
err2024-06-01
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errOAAI
errPaul, Maimuna S.; Michener, Sydney L.; Pan, Hongling; Chan, Hiuling; Pfliger, Jessica M.; Rosenfeld, Jill A.; Lerma, Vanesa C.; Tran, Alyssa; Longley, Megan A.; Lewis, Richard A.; Weisz-Hubshman, Monika; Bekheirnia, Mir Reza; Bekheirnia, Nasim; Massingham, Lauren; Zech, Michael; Wagner, Matias; Engels, Hartmut; Cremer, Kirsten; Mangold, Elisabeth; Peters, Sophia; Trautmann, Jessica; Perne, Claudia; Mester, Jessica L.; Sacoto, Maria J. Guillen; Person, Richard; McDonnell, Pamela P.; Cohen, Stacey R.; Lusk, Laina; Cohen, Ana S. A.; Pichon, Jean -Baptiste Le; Pastinen, Tomi; Zhou, Dihong; Engleman, Kendra; Racine, Caroline; Faivre, Laurence; Moutton, Sebastien; Denomme-Pichon, Anne -Sophie; Koh, Hyun Yong; Poduri, Annapurna; Bolton, Jeffrey; Knopp, Cordula; Suh, Dong Sun Julia; Maier, Andrea; Toosi, Mehran Beiraghi; Karimiani, Ehsan Ghayoor; Maroofian, Reza; Schaefer, Gerald Bradley; Ramakumaran, Vijayalakshmi; Vasudevan, Pradeep; Banos-Pinero, Benito; Pagnamenta, Alistair T.; Prasad, Chitra; Osmond, Matthew; Schuhmann, Sarah; Vasileiou, Georgia; Russ-Hall, Sophie; Scheffer, Ingrid E.; Carvill, Gemma L.; Mefford, Heather; Bacino, Carlos A.; Lee, Brendan H.; Chao, Hsiao-Tuan
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Clinical heterogeneity within the ALS-FTD spectrum in a family with a homozygous optineurin mutation
err2024-04-30
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errOAAI
errParvizi, Tandis; Klotz, Sigrid; Keritam, Omar; Caliskan, Haluk; Imhof, Sophie; Koenig, Theresa; Haider, Lukas; Traub-Weidinger, Tatjana; Wagner, Matias; Brunet, Theresa; Brugger, Melanie; Zimprich, Alexander; Rath, Jakob; Stoegmann, Elisabeth; Gelpi, Ellen; Cetin, Hakan
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De novo variants in GABRA4 are associated with a neurological phenotype including developmental delay, behavioral abnormalities and epilepsy
err2024-04-02
err4
errOAAI
errSajan, Samin A.; Gradisch, Ralph; Vogel, Florian D.; Coffey, Alison J.; Salyakina, Daria; Soler, Diana; Jayakar, Parul; Jayakar, Anuj; Bianconi, Simona E.; Cooper, Annina H.; Liu, Shuxi; William, Nancy; Benkel-Herrenbrueck, Ira; Maiwald, Robert; Heller, Corina; Biskup, Saskia; Leiz, Steffen; Westphal, Dominik S.; Wagner, Matias; Clarke, Amy; Stockner, Thomas; Ernst, Margot; Kesari, Akanchha; Krenn, Martin
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