Matthias R Baumgartner (Matthias Baumgartner)

ResearcherID ORCID

Publication Activity (10 Years)

Years Active: 2014-2023
Publications (10 Years): 17

Top Venues

Journal of inherited metabolic disease

Nature metabolism

Nature communications

Genetics in medicine : official journal of the American College of Medical Genetics

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

Publications

Patrick Forny, Friederike Hörster, Matthias R Baumgartner, Stefan Kölker, Nikolas Boy
How guideline development has informed clinical research for organic acidurias (et vice versa). Journal of inherited metabolic disease (2023)
Patrick Forny, Ximena Bonilla, David Lamparter, Wenguang Shao, Tanja Plessl, Caroline Frei, Anna Bingisser, Sandra Goetze, Audrey van Drogen, Keith Harshman, Patrick G A Pedrioli, Cedric Howald, Martin Poms, Florian Traversi, Céline Bürer, Sarah Cherkaoui, Raphael J Morscher, Luke Simmons, Merima Forny, Ioannis Xenarios, Ruedi Aebersold, Nicola Zamboni, Gunnar Rätsch, Emmanouil T Dermitzakis, Bernd Wollscheid, Matthias R Baumgartner, D Sean Froese
Integrated multi-omics reveals anaplerotic rewiring in methylmalonyl-CoA mutase deficiency. Nature metabolism 5 (1) (2023)
Patrick Forny, Ximena Bonilla, David Lamparter, Wenguang Shao, Tanja Plessl, Caroline Frei, Anna Bingisser, Sandra Goetze, Audrey van Drogen, Keith Harshman, Patrick G A Pedrioli, Cedric Howald, Martin Poms, Florian Traversi, Céline Bürer, Sarah Cherkaoui, Raphael J Morscher, Luke Simmons, Merima Forny, Ioannis Xenarios, Ruedi Aebersold, Nicola Zamboni, Gunnar Rätsch, Emmanouil T Dermitzakis, Bernd Wollscheid, Matthias R Baumgartner, D Sean Froese
Integrated multi-omics reveals anaplerotic rewiring in methylmalonyl-CoA mutase deficiency. Nature metabolism 5 (1) (2023)
Shamima Rahman, Marc C Patterson, Verena Peters, Eva Morava, Johannes Zschocke, Matthias R Baumgartner
Guidelines in the JIMD: Evidence-based practice for inherited metabolic disease. Journal of inherited metabolic disease (2023)
Patrick Forny, Friederike Hörster, Matthias R Baumgartner, Stefan Kölker, Nikolas Boy
How guideline development has informed clinical research for organic acidurias (et vice versa). Journal of inherited metabolic disease (2023)
Patrick Forny, Ximena Bonilla, David Lamparter, Wenguang Shao, Tanja Plessl, Caroline Frei, Anna Bingisser, Sandra Goetze, Audrey van Drogen, Keith Harshman, Patrick G A Pedrioli, Cedric Howald, Martin Poms, Florian Traversi, Céline Bürer, Sarah Cherkaoui, Raphael J Morscher, Luke Simmons, Merima Forny, Ioannis Xenarios, Ruedi Aebersold, Nicola Zamboni, Gunnar Rätsch, Emmanouil T Dermitzakis, Bernd Wollscheid, Matthias R Baumgartner, D Sean Froese
Integrated multi-omics reveals anaplerotic rewiring in methylmalonyl-CoA mutase deficiency. Nature metabolism 5 (1) (2023)
Patrick Forny, Friederike Hörster, Matthias R Baumgartner, Stefan Kölker, Nikolas Boy
How guideline development has informed clinical research for organic acidurias (et vice versa). Journal of inherited metabolic disease (2023)
Patrick Forny, Ximena Bonilla, David Lamparter, Wenguang Shao, Tanja Plessl, Caroline Frei, Anna Bingisser, Sandra Goetze, Audrey van Drogen, Keith Harshman, Patrick G A Pedrioli, Cedric Howald, Martin Poms, Florian Traversi, Céline Bürer, Sarah Cherkaoui, Raphael J Morscher, Luke Simmons, Merima Forny, Ioannis Xenarios, Ruedi Aebersold, Nicola Zamboni, Gunnar Rätsch, Emmanouil T Dermitzakis, Bernd Wollscheid, Matthias R Baumgartner, D Sean Froese
Integrated multi-omics reveals anaplerotic rewiring in methylmalonyl-CoA mutase deficiency. Nature metabolism 5 (1) (2023)
Patrick Forny, Ximena Bonilla, David Lamparter, Wenguang Shao, Tanja Plessl, Caroline Frei, Anna Bingisser, Sandra Goetze, Audrey van Drogen, Keith Harshman, Patrick G A Pedrioli, Cedric Howald, Martin Poms, Florian Traversi, Céline Bürer, Sarah Cherkaoui, Raphael J Morscher, Luke Simmons, Merima Forny, Ioannis Xenarios, Ruedi Aebersold, Nicola Zamboni, Gunnar Rätsch, Emmanouil T Dermitzakis, Bernd Wollscheid, Matthias R Baumgartner, D Sean Froese
Integrated multi-omics reveals anaplerotic rewiring in methylmalonyl-CoA mutase deficiency. Nature metabolism 5 (1) (2023)
Ulrike Mütze, Florian Gleich, Sven F Garbade, Céline Plisson, Luis Aldámiz-Echevarría, Francisco Arrieta, Diana Ballhausen, Matthias Zielonka, Danijela Petković Ramadža, Matthias R Baumgartner, Aline Cano, María Concepción García Jiménez, Carlo Dionisi-Vici, Pavel Ješina, Henk J Blom, Maria Luz Couce, Silvia Meavilla Olivas, Karine Mention, Fanny Mochel, Andrew A M Morris, Helen Mundy, Redonnet-Vernhet Isabelle, Saikat Santra, Manuel Schiff, Aude Servais, Isidro Vitoria, Martina Huemer, Viktor Kožich, Stefan Kölker
Postauthorization safety study of betaine anhydrous. Journal of inherited metabolic disease 45 (4) (2022)
Patrick Forny, Tanja Plessl, Caroline Frei, Celine Bürer, D Sean Froese, Matthias R Baumgartner
Spectrum and characterization of bi-allelic variants in MMAB causing cblB-type methylmalonic aciduria. Human genetics (2021)
Alessandro Luciani, Anke Schumann, Marine Berquez, Zhiyong Chen, Daniela Nieri, Mario Failli, Huguette Debaix, Beatrice Paola Festa, Natsuko Tokonami, Andrea Raimondi, Alessio Cremonesi, Diego Carrella, Patrick Forny, Stefan Kölker, Francesca Diomedi Camassei, Francisca Diaz, Carlos T Moraes, Diego Di Bernardo, Matthias R Baumgartner, Olivier Devuyst
Author Correction: Impaired mitophagy links mitochondrial disease to epithelial stress in methylmalonyl-CoA mutase deficiency. Nature communications 11 (1) (2020)
Florin Bösch, Markus Andreas Landolt, Matthias R Baumgartner, Nina A Zeltner, Stefan Kölker, Florian Gleich, Alberto B Burlina, Chiara Cazzorla, Wendy Packman, Ida Vanessa Döederlein Schwartz, Eduardo Vieira Neto, Márcia G Ribeiro, Diego Martinelli, Giorgia Olivieri, Martina Huemer
Health-related quality of life in paediatric patients with intoxication-type inborn errors of metabolism: Analysis of an international data set. Journal of inherited metabolic disease 44 (1) (2020)
Viktor Kožich, Jitka Sokolová, Andrew A M Morris, Markéta Pavlíková, Florian Gleich, Stefan Kölker, Jakub Krijt, Carlo Dionisi-Vici, Matthias R Baumgartner, Henk J Blom, Martina Huemer, null null
Cystathionine β-synthase deficiency in the E-HOD registry-part I: pyridoxine responsiveness as a determinant of biochemical and clinical phenotype at diagnosis. Journal of inherited metabolic disease 44 (3) (2020)
Alessandro Luciani, Anke Schumann, Marine Berquez, Zhiyong Chen, Daniela Nieri, Mario Failli, Huguette Debaix, Beatrice Paola Festa, Natsuko Tokonami, Andrea Raimondi, Alessio Cremonesi, Diego Carrella, Patrick Forny, Stefan Kölker, Francesca Diomedi Camassei, Francisca Diaz, Carlos T Moraes, Diego Di Bernardo, Matthias R Baumgartner, Olivier Devuyst
Impaired mitophagy links mitochondrial disease to epithelial stress in methylmalonyl-CoA mutase deficiency. Nature communications 11 (1) (2020)
Arnaud Wiedemann, Céline Chery, David Coelho, Justine Flayac, Naïg Gueguen, Valérie Desquiret-Dumas, François Feillet, Christian Lavigne, Jean-Philippe Neau, Brian Fowler, Matthias R Baumgartner, Pascal Reynier, Jean-Louis Guéant, Abderrahim Oussalah
Mutations in MTHFR and POLG impaired activity of the mitochondrial respiratory chain in 46-year-old twins with spastic paraparesis. Journal of human genetics 65 (2) (2019)
D Sean Froese, Jolanta Kopec, Elzbieta Rembeza, Gustavo Arruda Bezerra, Anselm Erich Oberholzer, Terttu Suormala, Seraina Lutz, Rod Chalk, Oktawia Borkowska, Matthias R Baumgartner, Wyatt W Yue
Structural basis for the regulation of human 5,10-methylenetetrahydrofolate reductase by phosphorylation and S-adenosylmethionine inhibition. Nature communications 9 (1) (2018)
Peter J Shepard, Bruce A Barshop, Matthias R Baumgartner, John-Bjarne Hansen, Kristen Jepsen, Erin N Smith, Kelly A Frazer
Consanguinity and rare mutations outside of MCCC genes underlie nonspecific phenotypes of MCCD. Genetics in medicine : official journal of the American College of Medical Genetics 17 (8) (2014)

Matthias R Baumgartner.css-eqlu8i{font-size:small;padding-left:4px;} (Matthias Baumgartner)

Publication Activity (10 Years)

Top Topics

Top Venues

Matthias R Baumgartner (Matthias Baumgartner)