Matias Wagner (M Wagner)

ORCID

Publication Activity (10 Years)

Years Active: 2018-2024
Publications (10 Years): 58

Top Venues

European journal of human genetics : EJHG

Annals of clinical and translational neurology

Clinical genetics

Neurology. Genetics

This page only lists publications with an associated author ORCID identifier.

Publications

Hyoungjun Ham, Huie Jing, Ian T Lamborn, Megan M Kober, Alexey Koval, Yamina A Berchiche, D Eric Anderson, Kirk M Druey, Judith N Mandl, Bertrand Isidor, Carlos R Ferreira, Alexandra F Freeman, Sundar Ganesan, Meliha Karsak, Peter J Mustillo, Juliana Teo, Zarazuela Zolkipli-Cunningham, Nicolas Chatron, Francois Lecoquierre, Andrew J Oler, Jana Pachlopnik Schmid, Douglas B Kuhns, Xuehua Xu, Fabian H Hauck, Waleed Al Herz, Matias Wagner, Paulien Anna Terhal, Mari Muurinen, Vincent Barlogis, Phillip Cruz, Jeffrey Danielson, Helen Stewart, Petra Loid, Sebastian Rading, Boris Keren, Rolph Pfundt, Kol A Zarember, Katharina Vill, Lorraine Potocki, Kenneth N Olivier, Gaëtan Lesca, Laurence Olivier-Faivre, Melanie Wong, Anne Puel, Janet Chou, Maud Tusseau, Niki M Moutsopoulos, Helen F Matthews, Cas Simons, Ryan J Taft, Ariane G Soldatos, Etienne Masle-Farquhar, Stefania Pittaluga, Robert Brink, Danielle L Fink, Heidi H Kong, Juraj Kabat, Woo Sung Kim, Tatjana Bierhals, Kazuyuki Meguro, Amy P Hsu, Jingwen Gu, Jennifer Stoddard, Benito Banos-Pinero, Maria Slack, Giampaolo Trivellin, Benoit Mazel, Maarja Soomann, Samuel Li, Val J Watts, Constantine A Stratakis, Maria F Rodriguez-Quevedo, Ange-Line Bruel, Marita Lipsanen-Nyman, Paul Saultier, Rashmi Jain, Daphne Lehalle, Daniel Torres, Kathleen E Sullivan, Sébastien Barbarot, Axel Neu, Yannis Duffourd, Morgan N Similuk, Kirsty McWalter, Pierre Blanc, Stephane Bezieau, Tian Jin, Raif S Geha, Jean Laurent Casanova, Outimaija Mäkitie, Christian Kubisch, Patrick Edery, John Chrisodoulou, Ronald N Germain, Christopher C Goodnow, Thomas P Sakmar, Daniel D Billadeau, Sébastien Küry, Vladimir L Katanaev, Yu Zhang, Michael J Lenardo, Helen C Su
Germline mutations in a G protein identify signaling cross-talk in T cells. Science (New York, N.Y.) 385 (6715) (2024)
Tandis Parvizi, Sigrid Klotz, Omar Keritam, Haluk Caliskan, Sophie Imhof, Theresa König, Lukas Haider, Tatjana Traub-Weidinger, Matias Wagner, Theresa Brunet, Melanie Brugger, Alexander Zimprich, Jakob Rath, Elisabeth Stögmann, Ellen Gelpí, Hakan Cetin
Clinical heterogeneity within the ALS-FTD spectrum in a family with a homozygous optineurin mutation. Annals of clinical and translational neurology 11 (6) (2024)
Tandis Parvizi, Sigrid Klotz, Omar Keritam, Haluk Caliskan, Sophie Imhof, Theresa König, Lukas Haider, Tatjana Traub-Weidinger, Matias Wagner, Theresa Brunet, Melanie Brugger, Alexander Zimprich, Jakob Rath, Elisabeth Stögmann, Ellen Gelpí, Hakan Cetin
Clinical heterogeneity within the ALS-FTD spectrum in a family with a homozygous optineurin mutation. Annals of clinical and translational neurology 11 (6) (2024)
Samin A Sajan, Ralph Gradisch, Florian D Vogel, Alison J Coffey, Daria Salyakina, Diana Soler, Parul Jayakar, Anuj Jayakar, Simona E Bianconi, Annina H Cooper, Shuxi Liu, Nancy William, Ira Benkel-Herrenbrück, Robert Maiwald, Corina Heller, Saskia Biskup, Steffen Leiz, Dominik Sebastian Westphal, Matias Wagner, Amy Clarke, Thomas Stockner, Margot Ernst, Akanchha Kesari, Martin Krenn
De novo variants in GABRA4 are associated with a neurological phenotype including developmental delay, behavioral abnormalities and epilepsy. European journal of human genetics : EJHG 32 (8) (2024)
Tandis Parvizi, Sigrid Klotz, Omar Keritam, Haluk Caliskan, Sophie Imhof, Theresa König, Lukas Haider, Tatjana Traub-Weidinger, Matias Wagner, Theresa Brunet, Melanie Brugger, Alexander Zimprich, Jakob Rath, Elisabeth Stögmann, Ellen Gelpí, Hakan Cetin
Clinical heterogeneity within the ALS-FTD spectrum in a family with a homozygous optineurin mutation. Annals of clinical and translational neurology 11 (6) (2024)
Samin A Sajan, Ralph Gradisch, Florian D Vogel, Alison J Coffey, Daria Salyakina, Diana Soler, Parul Jayakar, Anuj Jayakar, Simona E Bianconi, Annina H Cooper, Shuxi Liu, Nancy William, Ira Benkel-Herrenbrück, Robert Maiwald, Corina Heller, Saskia Biskup, Steffen Leiz, Dominik Sebastian Westphal, Matias Wagner, Amy Clarke, Thomas Stockner, Margot Ernst, Akanchha Kesari, Martin Krenn
De novo variants in GABRA4 are associated with a neurological phenotype including developmental delay, behavioral abnormalities and epilepsy. European journal of human genetics : EJHG 32 (8) (2024)
Samin A Sajan, Ralph Gradisch, Florian D Vogel, Alison J Coffey, Daria Salyakina, Diana Soler, Parul Jayakar, Anuj Jayakar, Simona E Bianconi, Annina H Cooper, Shuxi Liu, Nancy William, Ira Benkel-Herrenbrück, Robert Maiwald, Corina Heller, Saskia Biskup, Steffen Leiz, Dominik Sebastian Westphal, Matias Wagner, Amy Clarke, Thomas Stockner, Margot Ernst, Akanchha Kesari, Martin Krenn
De novo variants in GABRA4 are associated with a neurological phenotype including developmental delay, behavioral abnormalities and epilepsy. European journal of human genetics : EJHG 32 (8) (2024)
Samin A Sajan, Ralph Gradisch, Florian D Vogel, Alison J Coffey, Daria Salyakina, Diana Soler, Parul Jayakar, Anuj Jayakar, Simona E Bianconi, Annina H Cooper, Shuxi Liu, Nancy William, Ira Benkel-Herrenbrück, Robert Maiwald, Corina Heller, Saskia Biskup, Steffen Leiz, Dominik Sebastian Westphal, Matias Wagner, Amy Clarke, Thomas Stockner, Margot Ernst, Akanchha Kesari, Martin Krenn
De novo variants in GABRA4 are associated with a neurological phenotype including developmental delay, behavioral abnormalities and epilepsy. European journal of human genetics : EJHG (2024)
Saskia B Wortmann, Rene G Feichtinger, Lucia Abela, Loes Annet van Gemert, Mélodie Aubart, Claire-Marine Dufeu-Berat, Nathalie Boddaert, Rene de Coo, Lara Stühn, Jasmijn Hebbink, Wolfram Heinritz, Julia Hildebrandt, Nastassja Himmelreich, Christoph Korenke, Anna Lehman, Thomas Leyland, Christine Makowski, Rafael Jenaro Martinez Marin, Pauline Marzin, Chris Mühlhausen, Marlène Rio, Agnes Rotig, Charles-Joris Roux, Manuel Schiff, Tobias B Haack, Steffen Syrbe, Stas A Zylicz, Christian Thiel, Maria Veiga da Cunha, Emile van Schaftingen, Matias Wagner, Johannes Adalbert Mayr, Ron A Wevers, Eugen Boltshauser, Michel A A P Willemsen
Clinical, Neuroimaging, and Metabolic Footprint of the Neurodevelopmental Disorder Caused by Monoallelic HK1 Variants. Neurology. Genetics 10 (2) (2024)
Saskia B Wortmann, Rene G Feichtinger, Lucia Abela, Loes Annet van Gemert, Mélodie Aubart, Claire-Marine Dufeu-Berat, Nathalie Boddaert, Rene de Coo, Lara Stühn, Jasmijn Hebbink, Wolfram Heinritz, Julia Hildebrandt, Nastassja Himmelreich, Christoph Korenke, Anna Lehman, Thomas Leyland, Christine Makowski, Rafael Jenaro Martinez Marin, Pauline Marzin, Chris Mühlhausen, Marlène Rio, Agnes Rotig, Charles-Joris Roux, Manuel Schiff, Tobias B Haack, Steffen Syrbe, Stas A Zylicz, Christian Thiel, Maria Veiga da Cunha, Emile van Schaftingen, Matias Wagner, Johannes Adalbert Mayr, Ron A Wevers, Eugen Boltshauser, Michel A A P Willemsen
Clinical, Neuroimaging, and Metabolic Footprint of the Neurodevelopmental Disorder Caused by Monoallelic HK1 Variants. Neurology. Genetics 10 (2) (2024)
Tandis Parvizi, Sigrid Klotz, Omar Keritam, Haluk Caliskan, Sophie Imhof, Theresa König, Lukas Haider, Tatjana Traub-Weidinger, Matias Wagner, Theresa Brunet, Melanie Brugger, Alexander Zimprich, Jakob Rath, Elisabeth Stögmann, Ellen Gelpí, Hakan Cetin
Clinical heterogeneity within the ALS-FTD spectrum in a family with a homozygous optineurin mutation. Annals of clinical and translational neurology 11 (6) (2024)
Samin A Sajan, Ralph Gradisch, Florian D Vogel, Alison J Coffey, Daria Salyakina, Diana Soler, Parul Jayakar, Anuj Jayakar, Simona E Bianconi, Annina H Cooper, Shuxi Liu, Nancy William, Ira Benkel-Herrenbrück, Robert Maiwald, Corina Heller, Saskia Biskup, Steffen Leiz, Dominik Sebastian Westphal, Matias Wagner, Amy Clarke, Thomas Stockner, Margot Ernst, Akanchha Kesari, Martin Krenn
De novo variants in GABRA4 are associated with a neurological phenotype including developmental delay, behavioral abnormalities and epilepsy. European journal of human genetics : EJHG 32 (8) (2024)
Tandis Parvizi, Sigrid Klotz, Omar Keritam, Haluk Caliskan, Sophie Imhof, Theresa König, Lukas Haider, Tatjana Traub-Weidinger, Matias Wagner, Theresa Brunet, Melanie Brugger, Alexander Zimprich, Jakob Rath, Elisabeth Stögmann, Ellen Gelpí, Hakan Cetin
Clinical heterogeneity within the ALS-FTD spectrum in a family with a homozygous optineurin mutation. Annals of clinical and translational neurology (2024)
Saskia B Wortmann, Rene G Feichtinger, Lucia Abela, Loes Annet van Gemert, Mélodie Aubart, Claire-Marine Dufeu-Berat, Nathalie Boddaert, Rene de Coo, Lara Stühn, Jasmijn Hebbink, Wolfram Heinritz, Julia Hildebrandt, Nastassja Himmelreich, Christoph Korenke, Anna Lehman, Thomas Leyland, Christine Makowski, Rafael Jenaro Martinez Marin, Pauline Marzin, Chris Mühlhausen, Marlène Rio, Agnes Rotig, Charles-Joris Roux, Manuel Schiff, Tobias B Haack, Steffen Syrbe, Stas A Zylicz, Christian Thiel, Maria Veiga da Cunha, Emile van Schaftingen, Matias Wagner, Johannes Adalbert Mayr, Ron A Wevers, Eugen Boltshauser, Michel A A P Willemsen
Clinical, Neuroimaging, and Metabolic Footprint of the Neurodevelopmental Disorder Caused by Monoallelic HK1 Variants. Neurology. Genetics 10 (2) (2024)
Samin A Sajan, Ralph Gradisch, Florian D Vogel, Alison J Coffey, Daria Salyakina, Diana Soler, Parul Jayakar, Anuj Jayakar, Simona E Bianconi, Annina H Cooper, Shuxi Liu, Nancy William, Ira Benkel-Herrenbrück, Robert Maiwald, Corina Heller, Saskia Biskup, Steffen Leiz, Dominik Sebastian Westphal, Matias Wagner, Amy Clarke, Thomas Stockner, Margot Ernst, Akanchha Kesari, Martin Krenn
De novo variants in GABRA4 are associated with a neurological phenotype including developmental delay, behavioral abnormalities and epilepsy. European journal of human genetics : EJHG (2024)
Victoria Patterson, Farid Ullah, Laura Bryant, John N Griffin, Alpa Sidhu, Sheila Saliganan, Mackenzie Blaile, Margarita Sifuentes Saenz, Rosemarie Smith, Sara Ellingwood, Dorothy K Grange, Xuyun Hu, Maimaiti Mireguli, Yanfei Luo, Yiping Shen, Maureen S Mulhern, Elaine Zackai, Alyssa L Ritter, Kosaki Izumi, Julia Hoefele, Matias Wagner, Korbinian Maria Riedhammer, Barbara Seitz, Nathaniel H Robin, Dana Goodloe, Cyril Mignot, Boris Keren, Helen Cox, Joanna Jarvis, Maja Hempel, Cynthia Forster Gibson, Frédéric Tran Mau Them, Antonio Vitobello, Ange-Line Bruel, Arthur Sorlin, Sarju G Mehta, F Lucy Raymond, Kelly Gilmore, Bradford C Powell, Karen E Weck, Chumei Li, Anneke T Vulto-van Silfhout, Thea Giacomini, Maria Margherita Mancardi, Andrea Accogli, Vincenzo Salpietro, Federico Zara, Neeta L Vora, Erica E Davis, Rebecca D Burdine, Elizabeth Joyce Bhoj
Abrogation of MAP4K4 protein function causes congenital anomalies in humans and zebrafish. Science advances 9 (17) (2023)
Jean-Madeleine de Sainte Agathe, Ben Pode-Shakked, Sophie Naudion, Vincent Michaud, Benoit Arveiler, Patricia Fergelot, Jean Delmas, Boris Keren, Céline Poirsier, Fowzan Sami Alkuraya, Brahim Tabarki, Eric Bend, Kellie Davis, E Martina Bebin, Michelle L Thompson, Emily M Bryant, Matias Wagner, Iris Hannibal, Jerica Lenberg, Martin Krenn, Kristen M Wigby, Jennifer R Friedman, Maria Iascone, Anna Cereda, Térence Miao, Eric Le Guern, Emanuela Argilli, Elliott Sherr, Oana Caluseriu, Timothy Tidwell, Pinar Bayrak-Toydemir, Caroline Hagedorn, Melanie Brugger, Katharina Vill, Francois-Dominique Morneau-Jacob, Wendy K Chung, Kathryn Nicole Weaver, Joshua W Owens, Ammar Husami, Bimal P Chaudhari, Brandon S Stone, Katie Burns, Rachel Li, Iris M de Lange, Margaux Biehler, Emmanuelle Ginglinger, Bénédicte Gérard, Rolf W Stottmann, Aurélien Trimouille
ARF1 -related disorder: phenotypic and molecular spectrum. Journal of medical genetics (2023)
Sebastian Gippert, Matias Wagner, Theresa Brunet, Riccardo Berruti, Melanie Brugger, Eva Maria Christina Schwaibold, Tobias B Haack, Georg Friedrich Hoffmann, Markus Bettendorf, Daniela Choukair
Exome sequencing (ES) of a pediatric cohort with chronic endocrine diseases: a single-center study (within the framework of the TRANSLATE-NAMSE project). Endocrine (2023)
Victoria Patterson, Farid Ullah, Laura Bryant, John N Griffin, Alpa Sidhu, Sheila Saliganan, Mackenzie Blaile, Margarita Sifuentes Saenz, Rosemarie Smith, Sara Ellingwood, Dorothy K Grange, Xuyun Hu, Maimaiti Mireguli, Yanfei Luo, Yiping Shen, Maureen S Mulhern, Elaine Zackai, Alyssa L Ritter, Kosaki Izumi, Julia Hoefele, Matias Wagner, Korbinian Maria Riedhammer, Barbara Seitz, Nathaniel H Robin, Dana Goodloe, Cyril Mignot, Boris Keren, Helen Cox, Joanna Jarvis, Maja Hempel, Cynthia Forster Gibson, Frédéric Tran Mau Them, Antonio Vitobello, Ange-Line Bruel, Arthur Sorlin, Sarju G Mehta, F Lucy Raymond, Kelly Gilmore, Bradford C Powell, Karen E Weck, Chumei Li, Anneke T Vulto-van Silfhout, Thea Giacomini, Maria Margherita Mancardi, Andrea Accogli, Vincenzo Salpietro, Federico Zara, Neeta L Vora, Erica E Davis, Rebecca D Burdine, Elizabeth Joyce Bhoj
Abrogation of MAP4K4 protein function causes congenital anomalies in humans and zebrafish. Science advances 9 (17) (2023)
Konrad Oexle, Michael Zech, Lara G Stühn, Sandy Siegert, Theresa Brunet, Wolfgang M Schmidt, Matias Wagner, Axel Schmidt, Hartmut Engels, Erik Tilch, Olivier Monestier, Anne Destrėe, Britta Hanker, Sylvia Boesch, Robert Jech, Riccardo Berutti, Frank Kaiser, Bernhard Haslinger, Tobias B Haack, Barbara Garavaglia, Peter Krawitz, Juliane Winkelmann, Nazanin Mirza-Schreiber
Episignature analysis of moderate effects and mosaics. European journal of human genetics : EJHG (2023)
Camille Engel, Stéphanie Valence, Geoffroy Delplancq, Reza Maroofian, Andrea Accogli, Emanuele Agolini, Fowzan Sami Alkuraya, Valentina Baglioni, Irene Bagnasco, Mathilde Becmeur-Lefebvre, Enrico Silvio Bertini, Ingo Borggraefe, Elise Brischoux-Boucher, Ange-Line Bruel, Alfredo Brusco, Dalal K Bubshait, Christelle Cabrol, Maria Roberta Cilio, Marie-Coralie Cornet, Christine Coubes, Olivier Danhaive, Valérie Delague, Anne Sophie Denommé-Pichon, Marilena Carmela Di Giacomo, Martine Doco-Fenzy, Hartmut Engels, Kirsten Cremer, Marion Gérard, Joseph G Gleeson, Delphine Heron, Joanna Goffeney, Anne Guimier, Frederike L Harms, Henry Houlden, Michele Iacomino, Rauan Kaiyrzhanov, Benjamin Kamien, Ehsan Ghayoor Karimiani, Dror Kraus, Paul Kuentz, Kerstin Kutsche, Damien Lederer, Lauren Massingham, Cyril Mignot, Deborah J Morris-Rosendahl, Lakshmi Nagarajan, Sylvie Odent, Clothilde Ormières, Jennifer Neil Partlow, Laurent Pasquier, Lynette Penney, Christophe Philippe, Gianluca Piccolo, Cathryn Poulton, Audrey Putoux, Marlène Rio, Christelle Rougeot, Vincenzo Salpietro, Ingrid Scheffer, Amy L Schneider, Siddharth Srivastava, Rachel Straussberg, Pasquale Striano, Enza Maria Valente, Perrine Venot, Laurent Villard, Antonio Vitobello, Johanna Wagner, Matias Wagner, Maha Saad Zaki, Federizo Zara, Gaëtan Lesca, Vahid Reza Yassaee, Mohammad Miryounesi, Feyzollah Hashemi-Gorji, Mehran Beiraghi, Farah Ashrafzadeh, Hamid Galehdari, Christopher A Walsh, Antonio Novelli, Moritz Tacke, Dinara Sadykova, Yerdan Maidyrov, Kairgali Koneev, Chingiz Shashkin, Valeria Capra, Mina Zamani, Lionel Van Maldergem, Lydie Burglen, Juliette Piard
BRAT1-related disorders: phenotypic spectrum and phenotype-genotype correlations from 97 patients. European journal of human genetics : EJHG (2023)
Philip Harrer, Nazanin Mirza-Schreiber, Vanessa Mandel, Sigrun Roeber, Ambra Stefani, Shamsun Naher, Matias Wagner, Christian Gieger, Melanie Waldenberger, Annette Peters, Birgit Högl, Jochen Herms, Barbara Schormair, Chen Zhao, Juliane Winkelmann, Konrad Oexle
Epigenetic Association Analyses and Risk Prediction of RLS. Movement disorders : official journal of the Movement Disorder Society (2023)
Bernt Popp, Melanie Brugger, Sibylle Poschmann, Bartolomaeus Tobias, Maximilian Radtke, Julia Hentschel, Nataliya Di Donato, Andreas Rump, Janina Gburek-Augustat, Elisabeth Graf, Matias Wagner, Ina Sorge, Johannes R Lemke, Thomas Meitinger, Rami Abou Jamra, Vincent Strehlow, Theresa Brunet
The constitutional gain-of-function variant p.Glu1099Lys in NSD2 is associated with a novel syndrome. Clinical genetics (2022)
Martin Krenn, Matthias Tomschik, Matias Wagner, Gudrun Zulehner, Rosa Weng, Jakob Rath, Sigrid Klotz, Ellen Gelpi, Gabriel Bsteh, Omar Keritam, Isabella Colonna, Chiara Paternostro, Fiona Jäger, Elisabeth Lindeck-Pozza, Stephan Iglseder, Susanne Grinzinger, Martina Schönfelder, Christina Hohenwarter, Manfred Freimüller, Norbert Embacher, Julia V Wanschitz, Raffi Topakian, Ana Töpf, Volker Straub, Stefan Quasthoff, Fritz Zimprich, Wolfgang N Löscher, Hakan Cetin
Clinico-genetic spectrum of limb-girdle muscular weakness in Austria: A multicentre cohort study. European journal of neurology 29 (6) (2022)
Nadine Spielmann, Gregor Miller, Tudor I Oprea, Chih-Wei Hsu, Gisela Fobo, Goar Frishman, Corinna Montrone, Hamed Haseli Mashhadi, Jeremy C Mason, Violeta Munoz Fuentes, Stefanie Leuchtenberger, Andreas Ruepp, Matias Wagner, Dominik Sebastian Westphal, Cordula M Wolf, Agnes Görlach, Adrián Sanz-Moreno, Yi-Li Cho, Raffaele Teperino, Stefan Brandmaier, Sapna Sharma, Isabella Rikarda Galter, Manuela A Östereicher, Lilly Zapf, Philipp Mayer-Kuckuk, Jan Rozman, Lydia Teboul, Rosie K A Bunton-Stasyshyn, Heather L Cater, Michelle Stewart, Skevoulla Christou, Henrik Westerberg, Amelia M Willett, Janine M Wotton, Willson B Roper, Audrey E Christiansen, Christopher S Ward, Jason D Heaney, Corey L Reynolds, Jan Prochazka, Lynette Bower, Dave A Clary, Mohammed Selloum, Ghina Bou About, Olivia Wendling, Hugues Jacobs, Sophie Leblanc, Hamid Meziane, Tania Sorg, Enrique Audain, Arthur Gilly, Nigel William Rayner, null null, null null, Marc-Phillip Hitz, Eleftheria Zeggini, Eckhard Wolf, Radislav Sedlacek, Stephen A Murray, Karen L Svenson, Robert E Braun, Jaqueline K White, Lois Kelsey, Xiang Gao, Toshihiko Shiroishi, Ying Xu, Je-Kyung Seong, Fabio Mammano, Glauco P Tocchini-Valentini, Arthur L Beaudet, Terrence F Meehan, Helen Parkinson, Damian Smedley, Ann-Marie Mallon, Sara E Wells, Harald Grallert, Wolfgang Wurst, Susan Marschall, Helmut Fuchs, Steve D M Brown, Ann M Flenniken, Lauryl M J Nutter, Colin McKerlie, Yann Hérault, K C Kent Lloyd, Mary E Dickinson, Valérie Gailus-Durner, Martin Hrabě de Angelis
Extensive identification of genes involved in congenital and structural heart disorders and cardiomyopathy. Nature cardiovascular research 1 (2) (2022)
Theresa Brunet, Riccardo Berutti, Veronika Dill, Judith S Hecker, Daniela Choukair, Stephanie Andres, Marcus Deschauer, Janine Diehl-Schmid, Martin Krenn, Gertrud Eckstein, Elisabeth Graf, Thomas Gasser, Tim M Strom, Julia Hoefele, Katharina S Götze, Thomas Meitinger, Matias Wagner
Clonal hematopoiesis as a pitfall in germline variant interpretation in the context of Mendelian disorders. Human molecular genetics 31 (14) (2022)
Bigna Katrin Bölsterli, Eugen Boltshauser, Luigi Palmieri, Johannes Spenger, Michaela Brunner-Krainz, Felix Distelmaier, Peter Freisinger, Tobias Geis, Andrea L Gropman, Johannes Häberle, Julia Hentschel, Bruno Jeandidier, Daniela Karall, Boris Keren, Annick Klabunde-Cherwon, Vassiliki Konstantopoulou, Raimund Kottke, Francesco M Lasorsa, Christine Makowski, Cyril Mignot, Ruth Tuura O'Gorman, Vito Porcelli, René Santer, Kuntal Sen, Katja Steinbrücker, Steffen Syrbe, Matias Wagner, Andreas Ziegler, Thomas Zöggeler, Johannes Adalbert Mayr, Holger Prokisch, Saskia B Wortmann
Ketogenic Diet Treatment of Defects in the Mitochondrial Malate Aspartate Shuttle and Pyruvate Carrier. Nutrients 14 (17) (2022)
Michael Zech, Matthias Elstner, Katja Steinbrücker, Céline Bris, Naig Gueguen, René Günther Feichtinger, Melanie T Achleitner, Neslihan Duzkale, Maximilien Périvier, Johannes Koch, Harald Engelhardt, Peter Freisinger, Matias Wagner, Theresa Brunet, Riccardo Berutti, Dmitrii Smirnov, Tharsini Navaratnarajah, Richard J T Rodenburg, Lynn S Pais, Christina Austin-Tse, Melanie O'Leary, Sylvia Boesch, Robert Jech, Somayeh Bakhtiari, Sheng Chih Jin, Friederike Wilbert, Michael C Kruer, Saskia B Wortmann, Matthias Eckenweiler, Johannes A Mayr, Felix Distelmaier, Robert Steinfeld, Juliane Winkelmann, Holger Prokisch
Variants in Mitochondrial ATP Synthase Cause Variable Neurologic Phenotypes. Annals of neurology 91 (2) (2022)
Philip Harrer, Audrey Schalk, Masaru Shimura, Sarah Baer, Nadège Calmels, Marie Aude Spitz, Marie-Thérèse Abi Warde, Elise Schaefer, Volker M Sc Kittke, Yasemin Dincer, Matias Wagner, Ivana Dzinovic, Riccardo Berutti, Tatsuharu Sato, Toshihiko Shirakawa, Yasushi Okazaki, Kei Murayama, Konrad Oexle, Holger Prokisch, Volker Mall, Ivo Melčák, Juliane Winkelmann, Michael Zech
Recessive NUP54 Variants Underlie Early-Onset Dystonia with Striatal Lesions. Annals of neurology (2022)
Nadine Spielmann, Gregor Miller, Tudor I Oprea, Chih-Wei Hsu, Gisela Fobo, Goar Frishman, Corinna Montrone, Hamed Haseli Mashhadi, Jeremy C Mason, Violeta Munoz Fuentes, Stefanie Leuchtenberger, Andreas Ruepp, Matias Wagner, Dominik Sebastian Westphal, Cordula M Wolf, Agnes Görlach, Adrián Sanz-Moreno, Yi-Li Cho, Raffaele Teperino, Stefan Brandmaier, Sapna Sharma, Isabella Rikarda Galter, Manuela A Östereicher, Lilly Zapf, Philipp Mayer-Kuckuk, Jan Rozman, Lydia Teboul, Rosie K A Bunton-Stasyshyn, Heather L Cater, Michelle Stewart, Skevoulla Christou, Henrik Westerberg, Amelia M Willett, Janine M Wotton, Willson B Roper, Audrey E Christiansen, Christopher S Ward, Jason D Heaney, Corey L Reynolds, Jan Prochazka, Lynette Bower, Dave A Clary, Mohammed Selloum, Ghina Bou About, Olivia Wendling, Hugues Jacobs, Sophie Leblanc, Hamid Meziane, Tania Sorg, Enrique Audain, Arthur Gilly, Nigel William Rayner, null null, null null, Marc-Phillip Hitz, Eleftheria Zeggini, Eckhard Wolf, Radislav Sedlacek, Stephen A Murray, Karen L Svenson, Robert E Braun, Jaqueline K White, Lois Kelsey, Xiang Gao, Toshihiko Shiroishi, Ying Xu, Je-Kyung Seong, Fabio Mammano, Glauco P Tocchini-Valentini, Arthur L Beaudet, Terrence F Meehan, Helen Parkinson, Damian Smedley, Ann-Marie Mallon, Sara E Wells, Harald Grallert, Wolfgang Wurst, Susan Marschall, Helmut Fuchs, Steve D M Brown, Ann M Flenniken, Lauryl M J Nutter, Colin McKerlie, Yann Hérault, K C Kent Lloyd, Mary E Dickinson, Valérie Gailus-Durner, Martin Hrabě de Angelis
Extensive identification of genes involved in congenital and structural heart disorders and cardiomyopathy. Nature cardiovascular research 1 (2) (2022)
Tzung-Chien Hsieh, Aviram Bar-Haim, Shahida Moosa, Nadja Ehmke, Karen W Gripp, Jean Tori Pantel, Magdalena Danyel, Martin Atta Mensah, Denise Horn, Stanislav Rosnev, Nicole Fleischer, Guilherme Bonini, Alexander Hustinx, Alexander Schmid, Alexej Knaus, Behnam Javanmardi, Hannah Klinkhammer, Hellen Lesmann, Sugirthan Sivalingam, Tom Kamphans, Wolfgang Meiswinkel, Frédéric Ebstein, Elke Krüger, Sébastien Küry, Stephane Bezieau, Axel Schmidt, Sophia Peters, Hartmut Engels, Elisabeth Mangold, Martina Kreiß, Kirsten Cremer, Claudia Perne, Regina C Betz, Tim Bender, Kathrin Grundmann-Hauser, Tobias B Haack, Matias Wagner, Theresa Brunet, Heidi Beate Bentzen, Luisa Averdunk, Kimberly Christine Coetzer, Gholson J Lyon, Malte Spielmann, Christian P Schaaf, Stefan Mundlos, Markus Maria Nöthen, Peter M Krawitz
GestaltMatcher facilitates rare disease matching using facial phenotype descriptors. Nature genetics 54 (3) (2022)
Florian D Vogel, Martin Krenn, Dominik Sebastian Westphal, Elisabeth Graf, Matias Wagner, Steffen Leiz, Filip Koniuszewski, Maximilian Augé-Stock, Georg Kramer, Petra Scholze, Margot Ernst
A de novo missense variant in GABRA4 alters receptor function in an epileptic and neurodevelopmental phenotype. Epilepsia 63 (4) (2022)
Nadine Spielmann, Gregor Miller, Tudor I Oprea, Chih-Wei Hsu, Gisela Fobo, Goar Frishman, Corinna Montrone, Hamed Haseli Mashhadi, Jeremy C Mason, Violeta Munoz Fuentes, Stefanie Leuchtenberger, Andreas Ruepp, Matias Wagner, Dominik Sebastian Westphal, Cordula M Wolf, Agnes Görlach, Adrián Sanz-Moreno, Yi-Li Cho, Raffaele Teperino, Stefan Brandmaier, Sapna Sharma, Isabella Rikarda Galter, Manuela A Östereicher, Lilly Zapf, Philipp Mayer-Kuckuk, Jan Rozman, Lydia Teboul, Rosie K A Bunton-Stasyshyn, Heather L Cater, Michelle Stewart, Skevoulla Christou, Henrik Westerberg, Amelia M Willett, Janine M Wotton, Willson B Roper, Audrey E Christiansen, Christopher S Ward, Jason D Heaney, Corey L Reynolds, Jan Prochazka, Lynette Bower, Dave A Clary, Mohammed Selloum, Ghina Bou About, Olivia Wendling, Hugues Jacobs, Sophie Leblanc, Hamid Meziane, Tania Sorg, Enrique Audain, Arthur Gilly, Nigel William Rayner, null null, null null, Marc-Phillip Hitz, Eleftheria Zeggini, Eckhard Wolf, Radislav Sedlacek, Stephen A Murray, Karen L Svenson, Robert E Braun, Jaqueline K White, Lois Kelsey, Xiang Gao, Toshihiko Shiroishi, Ying Xu, Je-Kyung Seong, Fabio Mammano, Glauco P Tocchini-Valentini, Arthur L Beaudet, Terrence F Meehan, Helen Parkinson, Damian Smedley, Ann-Marie Mallon, Sara E Wells, Harald Grallert, Wolfgang Wurst, Susan Marschall, Helmut Fuchs, Steve D M Brown, Ann M Flenniken, Lauryl M J Nutter, Colin McKerlie, Yann Hérault, K C Kent Lloyd, Mary E Dickinson, Valérie Gailus-Durner, Martin Hrabě de Angelis
Extensive identification of genes involved in congenital and structural heart disorders and cardiomyopathy. Nature cardiovascular research 1 (2) (2022)
Chengyao Peng, Simon Dieck, Alexander Schmid, Ashar Ahmad, Alexej Knaus, Maren Wenzel, Laura Mehnert, Birgit Zirn, Tobias Haack, Stephan Ossowski, Matias Wagner, Theresa Brunet, Nadja Ehmke, Magdalena Danyel, Stanislav Rosnev, Tom Kamphans, Guy Nadav, Nicole Fleischer, Holger Fröhlich, Peter M Krawitz
CADA: phenotype-driven gene prioritization based on a case-enriched knowledge graph. NAR genomics and bioinformatics 3 (3) (2021)
Audrey Schalk, Margot A Cousin, Nikita R Dsouza, Thomas D Challman, Karen E Wain, Zoe Powis, Kelly Minks, Aurélien Trimouille, Eulalie Lasseaux, Didier Lacombe, Chloé Angelini, Vincent Michaud, Julien Van-Gils, Nino Spataro, Anna Ruiz, Elizabeth Gabau, Elliot S Stolerman, Camerun Washington, Ray Louie, Brendan C Lanpher, Jennifer L Kemppainen, Micheil Innes, R Frank Kooy, Marije Meuwissen, Alice Goldenberg, Francois Lecoquierre, Gabriella Vera, Karin E M Diderich, Beth Sheidley, Christelle Moufawad El Achkar, Meredith Park, Fadi F Hamdan, Jacques L Michaud, Ann J Lewis, Christiane Zweier, André Reis, Matias Wagner, Heike Weigand, Hubert Journel, Boris Keren, Sandrine Passemard, Cyril Mignot, Koen van Gassen, Eva H Brilstra, Gina Itzikowitz, Emily O'Heir, Jake Allen, Kirsten A Donald, Bruce Richard Korf, Tammi Skelton, Michelle Thompson, Nathaniel H Robin, Natasha L Rudy, William B Dobyns, Kimberly Foss, Yuri Alexander Zarate, Katherine A Bosanko, Yves Alembik, Benjamin Durand, Frédéric Tran Mau Them, Emmanuelle Ranza, Xavier Blanc, Stylianos E Antonarakis, Kirsty McWalter, Erin Torti, Francisca Millan, Amy Dameron, Mari Tokita, Michael T Zimmermann, Eric W Klee, Amelie Piton, Benedicte Gerard
<i>De novo</i> coding variants in the <i>AGO1</i> gene cause a neurodevelopmental disorder with intellectual disability. Journal of medical genetics 59 (10) (2021)
Michael Zech, Robert Jech, Sylvia Boesch, Matej Škorvánek, Ján Necpál, Jana Švantnerová, Matias Wagner, Ariane Sadr-Nabavi, Felix Distelmaier, Martin Krenn, Tereza Serranová, Irena Rektorová, Petra Havránková, Alexandra Mosejová, Iva Příhodová, Jana Šarláková, Kristína Kulcsarová, Olga Ulmanová, Karel Bechyně, Miriam Ostrozovičová, Vladimír Haň, Joaquim Ribeiro Ventosa, Theresa Brunet, Riccardo Berutti, Mohammad Shariati, Ali Shoeibi, Susanne A Schneider, Alice Kuster, Matthias Baumann, David Weise, Friederike Wilbert, Wibke G Janzarik, Matthias Eckenweiler, Volker Mall, Bernhard Haslinger, Steffen Berweck, Juliane Winkelmann, Konrad Oexle
Scoring Algorithm-Based Genomic Testing in Dystonia: A Prospective Validation Study. Movement disorders : official journal of the Movement Disorder Society 36 (8) (2021)
Sukhleen Kour, Deepa S Rajan, Tyler R Fortuna, Eric N Anderson, Caroline Ward, Youngha Lee, Sangmoon Lee, Yong Beom Shin, Jong-Hee Chae, Murim Choi, Karine Siquier, Vincent Cantagrel, Jeanne Amiel, Elliot S Stolerman, Sarah S Barnett, Margot A Cousin, Diana Castro, Kimberly McDonald, Brian Kirmse, Andrea H Nemeth, Dhivyaa Rajasundaram, A Micheil Innes, Danielle Lynch, Patrick Frosk, Abigail Collins, Melissa Gibbons, Michele Yang, Isabelle Desguerre, Nathalie Boddaert, Cyril Gitiaux, Siri Lynne Rydning, Kaja K Selmer, Roser Urreizti, Alberto Garcia-Oguiza, Andrés Nascimento Osorio, Edgard Verdura, Aurora Pujol, Hannah R McCurry, John E Landers, Sameer Agnihotri, E Corina Andriescu, Shade B Moody, Chanika Phornphutkul, Maria J Guillen Sacoto, Amber Begtrup, Henry Houlden, Janbernd Kirschner, David Schorling, Sabine Rudnik-Schöneborn, Tim M Strom, Steffen Leiz, Kali Juliette, Randal Richardson, Ying Yang, Yuehua Zhang, Minghui Wang, Jia Wang, Xiaodong Wang, Konrad Platzer, Sandra Donkervoort, Carsten G Bönnemann, Matias Wagner, Mahmoud Y Issa, Hasnaa M Elbendary, Valentina Stanley, Reza Maroofian, Joseph G Gleeson, Maha Saad Zaki, Jan Senderek, Udai Bhan Pandey
Loss of function mutations in GEMIN5 cause a neurodevelopmental disorder. Nature communications 12 (1) (2021)
Friedhelm Hildebrandt, Jessika Johannsen, Fanny Kortüm, Matias Wagner, Konstantinos Tsiakas, Tatjana Bierhals, Davor Lessel, Theresia Herget, Katja Kloth, Jasmin Lisfeld, Tasja Scholz, Nadia Obi, Saskia Wortmann, Holger Prokisch, Christian Kubisch, Jonas Denecke, René Santer, Maja Hempel
Prevalence and clinical prediction of mitochondrial disorders in a large neuropediatric cohort. Clinical genetics 100 (6) (2021)
Michael Zech, Annette Seibt, Barbara Zumbaum, Dirk Klee, Thomas Meitinger, Juliane Winkelmann, Ertan Mayatepek, Matias Wagner, Felix Distelmaier
MATR3 haploinsufficiency and early-onset neurodegeneration. Brain : a journal of neurology 144 (9) (2021)
Matias Wagner, Georg Lorenz, Alexander E Volk, Theresa Brunet, Dieter Edbauer, Riccardo Berutti, Chen Zhao, Sarah Anderl-Straub, Lars Bertram, Adrian Danek, Marcus Deschauer, Veronika Dill, Klaus Faßbender, Klaus Fliessbach, Katharina S Götze, Holger Jahn, Kornhuber Johannes, Bernhard Landwehrmeyer, Martin Lauer, Hellmuth Obrig, Johannes Prudlo, Anja Schneider, Matthias L Schroeter, Ingo Uttner, Ruth Vukovich, Jens Wiltfang, Andrea S Winkler, Qihui Zhou, Albert C Ludolph, null null, Konrad Oexle, Markus Otto, Janine Diehl-Schmid, Juliane Winkelmann
Clinico-genetic findings in 509 frontotemporal dementia patients. Molecular psychiatry (2021)
Eva Maria Christina Schwaibold, Melanie Brugger, Matias Wagner
A C-terminal BCOR nonsense variant in a male patient expands the phenotypic spectrum of BCOR-associated syndromic microphthalmia. Clinical genetics 100 (4) (2021)
Theresa Brunet, Robert Jech, Melanie Brugger, Reka Kovacs, Bader Alhaddad, Gloria S Leszinski, Korbinian M Riedhammer, Dominik Sebastian Westphal, Isabella Mahle, Katharina Mayerhanser, Matej Skorvanek, Sandrina Weber, Elisabeth Graf, Riccardo Berutti, Ján Necpál, Petra Havránková, Petra Pavelekova, Maja Hempel, Urania Kotzaeridou, Georg F Hoffmann, Steffen Leiz, Christine Makowski, Timo Roser, Sebastian A Schroeder, Robert Steinfeld, Gertrud Strobl-Wildemann, Julia Hoefele, Ingo Borggraefe, Felix Distelmaier, Tim M Strom, Juliane Winkelmann, Thomas Meitinger, Michael Zech, Matias Wagner
De novo variants in neurodevelopmental disorders-experiences from a tertiary care center. Clinical genetics 100 (1) (2021)
Melanie Brugger, Fiona Becker-Dettling, Theresa Brunet, Tim Strom, Thomas Meitinger, Eberhard Lurz, Ingo Borggraefe, Matias Wagner
A homozygous truncating variant in CCDC186 in an individual with epileptic encephalopathy. Annals of clinical and translational neurology 8 (1) (2020)
Matias Wagner, Jonathan Lévy, Sabine Jung-Klawitter, Somayeh Bakhtiari, Fabiola Monteiro, Reza Maroofian, Tatjana Bierhals, Maja Hempel, Monique Elmaleh-Bergès, Joao P Kitajima, Chong A Kim, Julia G Salomao, David J Amor, Monica S Cooper, Laurence Perrin, Eva Pipiras, Axel Neu, Mohammad Doosti, Ehsan G Karimiani, Mehran B Toosi, Henry Houlden, Sheng Chih Jin, Yue C Si, Lance H Rodan, Hanka Venselaar, Michael C Kruer, Fernando Kok, Georg F Hoffmann, Tim M Strom, Saskia B Wortmann, Anne-Claude Tabet, Thomas Opladen
Loss of TNR causes a nonprogressive neurodevelopmental disorder with spasticity and transient opisthotonus. Genetics in medicine : official journal of the American College of Medical Genetics 22 (6) (2020)
Bart Appelhof, Matias Wagner, Julia Hoefele, Anja Heinze, Timo Roser, Margarete Koch-Hogrebe, Stefan D Roosendaal, Mohammadreza Dehghani, Mohammad Yahya Vahidi Mehrjardi, Erin Torti, Henry Houlden, Reza Maroofian, Farrah Rajabi, Heinrich Sticht, Frank Baas, Dagmar Wieczorek, Rami Abou Jamra
Pontocerebellar hypoplasia due to bi-allelic variants in MINPP1. European journal of human genetics : EJHG 29 (3) (2020)
Frederik Jan Moorhouse, Sonia Cornell, Lucia Gerstl, Moritz Tacke, Timo Roser, Florian Heinen, Michaela Bonfert, Celina von Stülpnagel, Matias Wagner, Ingo Borggraefe
Cognitive performance and behavior across idiopathic/genetic epilepsies in children and adolescents. Scientific reports 10 (1) (2020)
Matthias Christoph Braunisch, Korbinian Maria Riedhammer, Pierre-Maurice Herr, Sarah Draut, Roman Günthner, Matias Wagner, Marc Weidenbusch, Adrian Lungu, Bader Alhaddad, Lutz Renders, Tim M Strom, Uwe Heemann, Thomas Meitinger, Christoph Schmaderer, Julia Hoefele
Identification of disease-causing variants by comprehensive genetic testing with exome sequencing in adults with suspicion of hereditary FSGS. European journal of human genetics : EJHG 29 (2) (2020)
Urania Kotzaeridou, Sara K Young-Baird, Vanessa Suckow, Alexis G Thornburg, Matias Wagner, Inga Harting, Stine Christ, Tim Strom, Thomas E Dever, Vera M Kalscheuer
Novel pathogenic EIF2S3 missense variants causing clinically variable MEHMO syndrome with impaired eIF2γ translational function, and literature review. Clinical genetics 98 (5) (2020)
Giulia Ascari, Frank Peelman, Pietro Farinelli, Toon Rosseel, Nina Lambrechts, Kirsten A Wunderlich, Matias Wagner, Konstantinos Nikopoulos, Pernille Martens, Irina Balikova, Lara Derycke, Gabriële Holtappels, Olga Krysko, Thalia Van Laethem, Sarah De Jaegere, Brecht Guillemyn, Teddy Jégu, Jan De Bleecker, David Creytens, Jo Van Dorpe, Jan Gerris, Claus Bachert, Christiane M Neuhofer, Sophie Walraedt, Almut Bischoff, Lotte Bang Pedersen, Florentine Radelfahr, Carlo Rivolta, Bart Peter Leroy, Elfriede De Baere, Frauke Coppieters
Functional characterization of the first missense variant in CEP78, a founder allele associated with cone-rod dystrophy, hearing loss, and reduced male fertility. Human mutation 41 (5) (2020)
Florentine Radelfahr, Korbinian Maria Riedhammer, Leonie F Keidel, Gwendolyn Gramer, Thomas Meitinger, Thomas Klopstock, Matias Wagner
Biotinidase deficiency: A treatable cause of hereditary spastic paraparesis. Neurology. Genetics 6 (6) (2020)
Toshiyuki Itai, Kohei Hamanaka, Kazunori Sasaki, Matias Wagner, Urania Kotzaeridou, Ines Brösse, Markus Ries, Yu Kobayashi, Jun Tohyama, Mitsuhiro Kato, Winnie P Ong, Hui Bein Chew, Kavitha Rethanavelu, Emmanuelle Ranza, Xavier Blanc, Yuri Uchiyama, Naomi Tsuchida, Atsushi Fujita, Yoshiteru Azuma, Eriko Koshimizu, Takeshi Mizuguchi, Atsushi Takata, Noriko Miyake, Hidehisa Takahashi, Etsuko Miyagi, Yoshinori Tsurusaki, Hiroshi Doi, Masataka Taguri, Stylianos E Antonarakis, Mitsuko Nakashima, Hirotomo Saitsu, Satoko Miyatake, Naomichi Matsumoto
De novo variants in CELF2 that disrupt the nuclear localization signal cause developmental and epileptic encephalopathy. Human mutation 42 (1) (2020)
Kamal Khan, Michael Zech, Angela T Morgan, David J Amor, Matej Skorvanek, Tahir N Khan, Michael S Hildebrand, Victoria E Jackson, Thomas S Scerri, Matthew Coleman, Kristin A Rigbye, Ingrid Eileen Scheffer, Melanie Bahlo, Matias Wagner, Daniel D Lam, Riccardo Berutti, Petra Havránková, Anna Fečíková, Tim M Strom, Vladimir Han, Petra Dosekova, Zuzana Gdovinova, Franco Laccone, Muhammad Jameel, Marie R Mooney, Shahid Mahmood Baig, Robert Jech, Erica E Davis, Nicholas Katsanis, Juliane Winkelmann
Recessive variants in ZNF142 cause a complex neurodevelopmental disorder with intellectual disability, speech impairment, seizures, and dystonia. Genetics in medicine : official journal of the American College of Medical Genetics 21 (11) (2019)
Martin Krenn, Matthias Tomschik, J Rath, H Cetin, A Grisold, G Zulehner, Ivan Milenkovic, E Stogmann, A Zimprich, T M Strom, T Meitinger, Matias Wagner, F Zimprich
Genotype-guided diagnostic reassessment after exome sequencing in neuromuscular disorders: experiences with a two-step approach. European journal of neurology 27 (1) (2019)
Matias Wagner, Daniel P S Osborn, Ina Gehweiler, Maike Nagel, Ulrike Ulmer, Somayeh Bakhtiari, Rim Amouri, Reza Boostani, Faycal Hentati, Maryam M Hockley, Benedikt Hölbling, Thomas Schwarzmayr, Ehsan Ghayoor Karimiani, Christoph Kernstock, Reza Maroofian, Wolfgang Müller-Felber, Ege Ozkan, Sergio Padilla-Lopez, Selina Reich, Jennifer Reichbauer, Hossein Darvish, Neda Shahmohammadibeni, Abbas Tafakhori, Katharina Vill, Stephan Zuchner, Michael C Kruer, Juliane Winkelmann, Yalda Jamshidi, Rebecca Schüle
Bi-allelic variants in RNF170 are associated with hereditary spastic paraplegia. Nature communications 10 (1) (2019)
Fabian Baertling, Matias Wagner, Theresa Brunet, Hemmen Sabir, Dagmar Wieczorek, Thomas Meitinger, Thomas Meissner, Felix Distelmaier
Fatal metabolic decompensation in carbonic anhydrase VA deficiency despite early treatment and control of hyperammonemia. Genetics in medicine : official journal of the American College of Medical Genetics 22 (3) (2019)
Dominik Sebastian Westphal, Gloria S Leszinski, Esther Rieger-Fackeldey, Elisabeth Graf, Gregor Weirich, Thomas Meitinger, Eva Ostermayer, Renate Oberhoffer, Matias Wagner
Lessons from exome sequencing in prenatally diagnosed heart defects: A basis for prenatal testing. Clinical genetics 95 (5) (2019)
Martin Krenn, Ivan Milenkovic, Gertrud Eckstein, Fritz Zimprich, Thomas Meitinger, Thomas Foki, Matias Wagner
Adult-onset variant ataxia-telangiectasia diagnosed by exome and cDNA sequencing. Neurology. Genetics 5 (4) (2019)
Korbinian Maria Riedhammer, Gloria Sarah Leszinski, Stephanie Andres, Gertrud Strobl-Wildemann, Matias Wagner
First replication that biallelic variants in FITM2 cause a complex deafness-dystonia syndrome. Movement disorders : official journal of the Movement Disorder Society 33 (10) (2018)

Matias Wagner.css-eqlu8i{font-size:small;padding-left:4px;} (M Wagner)

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Matias Wagner (M Wagner)