Uveal Melanoma Patients Have a Distinct Metabolic Phenotype in Peripheral Blood
de Bruyn, Daniël P, Bongaerts, Michiel, Bonte, Ramon, Vaarwater, Jolanda, Meester-Smoor, Magda A, Verdijk, Robert M, Paridaens, Dion, Naus, Nicole C, de Klein, Annelies, Ruijter, George J G, Kiliç, Emine, Brosens, Erwin
Published in International journal of molecular sciences (01.03.2023)
Published in International journal of molecular sciences (01.03.2023)
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Journal Article
Benchmarking Outlier Detection Methods for Detecting IEM Patients in Untargeted Metabolomics Data
Bongaerts, Michiel, Kulkarni, Purva, Zammit, Alan, Bonte, Ramon, Kluijtmans, Leo A J, Blom, Henk J, Engelke, Udo F H, Tax, David M J, Ruijter, George J G, Reinders, Marcel J T
Published in Metabolites (07.01.2023)
Published in Metabolites (07.01.2023)
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Journal Article
Using Out-of-Batch Reference Populations to Improve Untargeted Metabolomics for Screening Inborn Errors of Metabolism
Bongaerts, Michiel, Bonte, Ramon, Demirdas, Serwet, Jacobs, Edwin H, Oussoren, Esmee, van der Ploeg, Ans T, Wagenmakers, Margreet A E M, Hofstra, Robert M W, Blom, Henk J, Reinders, Marcel J T, Ruijter, George J G
Published in Metabolites (25.12.2020)
Published in Metabolites (25.12.2020)
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Journal Article
Integration of metabolomics with genomics: Metabolic gene prioritization using metabolomics data and genomic variant (CADD) scores
Bongaerts, Michiel, Bonte, Ramon, Demirdas, Serwet, Huidekoper, Hidde H., Langendonk, Janneke, Wilke, Martina, de Valk, Walter, Blom, Henk J., Reinders, Marcel J.T., Ruijter, George J.G.
Published in Molecular genetics and metabolism (01.07.2022)
Published in Molecular genetics and metabolism (01.07.2022)
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Journal Article
Paroxysmal exercise-induced dystonia within the phenotypic spectrum of ECHS1 deficiency
Olgiati, Simone, Skorvanek, Matej, Quadri, Marialuisa, Minneboo, Michelle, Graafland, Josja, Breedveld, Guido J., Bonte, Ramon, Ozgur, Zeliha, van den Hout, Mirjam C.G.N., Schoonderwoerd, Kees, Verheijen, Frans W., van IJcken, Wilfred F.J., Chien, Hsin Fen, Barbosa, Egberto Reis, Chang, Hsiu-Chen, Lai, Szu-Chia, Yeh, Tu-Hsueh, Lu, Chin-Song, Wu-Chou, Yah-Huei, Kievit, Anneke J.A., Han, Vladimir, Gdovinova, Zuzana, Jech, Robert, Hofstra, Robert M.W., Ruijter, George J.G., Mandemakers, Wim, Bonifati, Vincenzo
Published in Movement disorders (01.07.2016)
Published in Movement disorders (01.07.2016)
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Journal Article
Untargeted Metabolomics-Based Screening Method for Inborn Errors of Metabolism using Semi-Automatic Sample Preparation with an UHPLC- Orbitrap-MS Platform
Bonte, Ramon, Bongaerts, Michiel, Demirdas, Serwet, Langendonk, Janneke G, Huidekoper, Hidde H, Williams, Monique, Onkenhout, Willem, Jacobs, Edwin H, Blom, Henk J, Ruijter, George J G
Published in Metabolites (26.11.2019)
Published in Metabolites (26.11.2019)
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Journal Article
Paroxysmal exercise-induced dystonia within the phenotypic spectrum of ECHS1 deficiency: ECHS1 Mutations, Dystonia, and PED
Olgiati, Simone, Skorvanek, Matej, Quadri, Marialuisa, Minneboo, Michelle, Graafland, Josja, Breedveld, Guido J., Bonte, Ramon, Ozgur, Zeliha, van den Hout, Mirjam C.G.N., Schoonderwoerd, Kees, Verheijen, Frans W., van IJcken, Wilfred F.J., Chien, Hsin Fen, Barbosa, Egberto Reis, Chang, Hsiu-Chen, Lai, Szu-Chia, Yeh, Tu-Hsueh, Lu, Chin-Song, Wu-Chou, Yah-Huei, Kievit, Anneke J.A., Han, Vladimir, Gdovinova, Zuzana, Jech, Robert, Hofstra, Robert M.W., Ruijter, George J.G., Mandemakers, Wim, Bonifati, Vincenzo
Published in Movement disorders (01.07.2016)
Published in Movement disorders (01.07.2016)
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Journal Article
First two unrelated cases of isolated sedoheptulokinase deficiency: A benign disorder?
Wamelink, Mirjam M. C., Ramos, Ruben J. J. F., van den Elzen, Annette P. M., Ruijter, George J. G., Bonte, Ramon, Diogo, Luisa, Garcia, Paula, Neves, Nelson, Nota, Benjamin, Haschemi, Arvand, Tavares de Almeida, Isabel, Salomons, Gajja S.
Published in Journal of inherited metabolic disease (01.09.2015)
Published in Journal of inherited metabolic disease (01.09.2015)
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Journal Article
Screening for inborn errors of metabolism using untargeted metabolomics and out-of-batch controls
Bongaerts, Michiel, Bonte, Ramon, Demirdas, Serwet, Jacobs, Ed, Oussoren, Esmee, Ans Van Der Ploeg, Wagenmakers, Margreet, Hofstra, Robert, Blom, Henk, Reinders, Marcel, Ruijter, George
Published in bioRxiv (16.04.2020)
Published in bioRxiv (16.04.2020)
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