All papers authored by Matias Wagner
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2023
Sebastian Gippert,
Matias Wagner 
,
Theresa Brunet,
Riccardo Berruti,
Melanie Brugger ,
Eva M. C. Schwaibold ,
Tobias B. Haack ,
Georg F. Hoffmann ,
Markus Bettendorf ,
Daniela Choukair
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,
Theresa Brunet,
Riccardo Berruti,
Melanie Brugger ,
Eva M. C. Schwaibold ,
Tobias B. Haack ,
Georg F. Hoffmann ,
Markus Bettendorf ,
Daniela Choukair
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Victoria Patterson ,
Farid Ullah ,
Laura Bryant ,
Dong Li,
John N. Griffin,
Alpa Sidhu ,
Sheila Saliganan,
Mackenzie Blaile,
Margarita S. Saenz ,
Rosemarie Smith,
Sara Ellingwood,
Dorothy K. Grange ,
Xuyun Hu ,
Maimaiti Mireguli,
Yanfei Luo
and 37 other authors
,
Farid Ullah ,
Laura Bryant ,
Dong Li,
John N. Griffin,
Alpa Sidhu ,
Sheila Saliganan,
Mackenzie Blaile,
Margarita S. Saenz ,
Rosemarie Smith,
Sara Ellingwood,
Dorothy K. Grange ,
Xuyun Hu ,
Maimaiti Mireguli,
Yanfei Luo
and 37 other authors
Abrogation of MAP4K4 protein function causes congenital anomalies in humans and zebrafish
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2022
Bigna K. 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
and 17 other authors
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,
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
and 17 other authors
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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
and 13 other authors
,
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
and 13 other authors
Clinico‐genetic spectrum of limb‐girdle muscular weakness in Austria: A multicentre cohort study
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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
and 32 other authors
,
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
and 32 other authors
GestaltMatcher facilitates rare disease matching using facial phenotype descriptors
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2021
Audrey Schalk,
Karen E. Wain,
Aurélien Trimouille ,
Julien Van-Gils,
Camerun Washington,
Gabriella Vera,
Christiane Zweier,
Matias Wagner ,
Heike Weigand,
Koen van Gassen,
Yuri Alexander Zarate,
Michael T. Zimmermann,
Margot A. Cousin,
Nikita R. Dsouza,
Thomas D. Challman
and 57 other authors
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,
Julien Van-Gils,
Camerun Washington,
Gabriella Vera,
Christiane Zweier,
Matias Wagner ,
Heike Weigand,
Koen van Gassen,
Yuri Alexander Zarate,
Michael T. Zimmermann,
Margot A. Cousin,
Nikita R. Dsouza,
Thomas D. Challman
and 57 other authors
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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
and 55 other authors
,
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
and 55 other authors
Loss of function mutations in GEMIN5 cause a neurodevelopmental disorder
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Theresa Brunet ,
Robert Jech,
Melanie Brugger,
Reka Kovacs,
Bader Alhaddad,
Gloria Leszinski ,
Korbinian M. Riedhammer,
Dominik S. Westphal ,
Isabella Mahle,
Katharina Mayerhanser,
Matej Skorvanek,
Sandrina Weber,
Elisabeth Graf,
Riccardo Berutti,
Ján Necpál
and 19 other authors
,
Robert Jech,
Melanie Brugger,
Reka Kovacs,
Bader Alhaddad,
Gloria Leszinski ,
Korbinian M. Riedhammer,
Dominik S. Westphal ,
Isabella Mahle,
Katharina Mayerhanser,
Matej Skorvanek,
Sandrina Weber,
Elisabeth Graf,
Riccardo Berutti,
Ján Necpál
and 19 other authors
De novo variants in neurodevelopmental disorders—experiences from a tertiary care center
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Sarah L. Stenton ,
Natalia L. Sheremet ,
Claudia B. Catarino ,
Natalia A. Andreeva,
Zahra Assouline,
Piero Barboni,
Ortal Barel,
Riccardo Berutti ,
Igor O. Bychkov ,
Leonardo Caporali ,
Mariantonietta Capristo,
P. Charbel Issa,
Michele Carbonelli,
Maria Lucia Cascavilla,
Peter Charbel Issa
and 40 other authors
,
Natalia L. Sheremet ,
Claudia B. Catarino ,
Natalia A. Andreeva,
Zahra Assouline,
Piero Barboni,
Ortal Barel,
Riccardo Berutti ,
Igor O. Bychkov ,
Leonardo Caporali ,
Mariantonietta Capristo,
P. Charbel Issa,
Michele Carbonelli,
Maria Lucia Cascavilla,
Peter Charbel Issa
and 40 other authors
Impaired complex I repair causes recessive Leber’s hereditary optic neuropathy
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Toshiyuki Itai ,
Kohei Hamanaka ,
Kazunori Sasaki,
Matias Wagner ,
Urania Kotzaeridou,
Ines Brösse,
Markus Ries ,
Yu Kobayashi,
Jun Tohyama,
Mitsuhiro Kato,
Winnie P. Ong ,
Hui B. Chew ,
Kavitha Rethanavelu ,
Emmanuelle Ranza ,
Xavier Blanc
and 18 other authors
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,
Kohei Hamanaka ,
Kazunori Sasaki,
Matias Wagner ,
Urania Kotzaeridou,
Ines Brösse,
Markus Ries ,
Yu Kobayashi,
Jun Tohyama,
Mitsuhiro Kato,
Winnie P. Ong ,
Hui B. Chew ,
Kavitha Rethanavelu ,
Emmanuelle Ranza ,
Xavier Blanc
and 18 other authors
Download from onlinelibrary.wiley.com
Florentine Radelfahr,
Korbinian M. Riedhammer ,
Leonie F. Keidel,
Gwendolyn Gramer,
Thomas Meitinger,
Thomas Klopstock,
Matias Wagner
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,
Leonie F. Keidel,
Gwendolyn Gramer,
Thomas Meitinger,
Thomas Klopstock,
Matias Wagner
Download from doi.org
Frank Peelman ,
Pietro Farinelli ,
Toon Rosseel ,
Nina Lambrechts ,
Kirsten A. Wunderlich ,
Matias Wagner ,
Konstantinos Nikopoulos ,
Giulia Ascari ,
Pernille Martens,
Irina Balikova ,
Lara Derycke ,
Gabriële Holtappels,
Olga Krysko ,
Thalia Van Laethem,
Sarah De Jaegere
and 16 other authors
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,
Pietro Farinelli ,
Toon Rosseel ,
Nina Lambrechts ,
Kirsten A. Wunderlich ,
Matias Wagner ,
Konstantinos Nikopoulos ,
Giulia Ascari ,
Pernille Martens,
Irina Balikova ,
Lara Derycke ,
Gabriële Holtappels,
Olga Krysko ,
Thalia Van Laethem,
Sarah De Jaegere
and 16 other authors
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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
and 14 other authors
,
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
and 14 other authors
Bi-allelic variants in RNF170 are associated with hereditary spastic paraplegia
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Kamal Khan ,
Michael Zech ,
Angela T. Morgan,
Matej Skorvanek ,
Tahir N. Khan,
Michael S. Hildebrand,
Victoria E. Jackson ,
Thomas S. Scerri ,
Kristin A. Rigbye,
Ingrid E. Scheffer ,
Matias Wagner ,
Daniel D. Lam ,
Petra Havránková,
Anna Fečíková ,
Tim M. Strom
and 15 other authors
Download from www.nature.com
,
Michael Zech ,
Angela T. Morgan,
Matej Skorvanek ,
Tahir N. Khan,
Michael S. Hildebrand,
Victoria E. Jackson ,
Thomas S. Scerri ,
Kristin A. Rigbye,
Ingrid E. Scheffer ,
Matias Wagner ,
Daniel D. Lam ,
Petra Havránková,
Anna Fečíková ,
Tim M. Strom
and 15 other authors
Download from www.nature.com
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