Ausgabe 3/2018
IEMomics - a crosstalk of omics
Inhalt (26 Artikel)
Inborn errors of metabolism and the human interactome: a systems medicine approach
Mathias Woidy, Ania C. Muntau, Søren W. Gersting
The functional genomics laboratory: functional validation of genetic variants
Richard J. Rodenburg
The role of the Human Metabolome Database in inborn errors of metabolism
Rupasri Mandal, Danuta Chamot, David S. Wishart
Next-generation metabolic screening: targeted and untargeted metabolomics for the diagnosis of inborn errors of metabolism in individual patients
Karlien L. M. Coene, Leo A. J. Kluijtmans, Ed van der Heeft, Udo F. H. Engelke, Siebolt de Boer, Brechtje Hoegen, Hanneke J. T. Kwast, Maartje van de Vorst, Marleen C. D. G. Huigen, Irene M. L. W. Keularts, Michiel F. Schreuder, Clara D. M. van Karnebeek, Saskia B. Wortmann, Maaike C. de Vries, Mirian C. H. Janssen, Christian Gilissen, Jasper Engel, Ron A. Wevers
Unraveling the unknown areas of the human metabolome: the role of infrared ion spectroscopy
Jonathan Martens, Giel Berden, Herman Bentlage, Karlien L. M. Coene, Udo F. Engelke, David Wishart, Monique van Scherpenzeel, Leo A. J. Kluijtmans, Ron A. Wevers, Jos Oomens
Advances in metabolome information retrieval: turning chemistry into biology. Part I: analytical chemistry of the metabolome
Abdellah Tebani, Carlos Afonso, Soumeya Bekri
Advances in metabolome information retrieval: turning chemistry into biology. Part II: biological information recovery
Abdellah Tebani, Carlos Afonso, Soumeya Bekri
Structural elucidation of novel biomarkers of known metabolic disorders based on multistage fragmentation mass spectra
Jan Václavík, Karlien L. M. Coene, Ivo Vrobel, Lukáš Najdekr, David Friedecký, Radana Karlíková, Lucie Mádrová, Aleksanteri Petsalo, Udo F. H. Engelke, Annemiek van Wegberg, Leo A. J. Kluijtmans, Tomáš Adam, Ron A. Wevers
Fast and accurate quantitative organic acid analysis with LC-QTOF/MS facilitates screening of patients for inborn errors of metabolism
Irene M. L. W. Körver-Keularts, Ping Wang, Huub W. A. H. Waterval, Leo A. J. Kluijtmans, Ron A. Wevers, Claus-Dieter Langhans, Camilla Scott, Daphna D. J. Habets, Jörgen Bierau
Multiomics tools for the diagnosis and treatment of rare neurological disease
L. M. Crowther, M. Poms, Barbara Plecko
Integration of genomics and metabolomics for prioritization of rare disease variants: a 2018 literature review
Emma Graham, Jessica Lee, Magda Price, Maja Tarailo-Graovac, Allison Matthews, Udo Engelke, Jeffrey Tang, Leo A. J. Kluijtmans, Ron A. Wevers, Wyeth W. Wasserman, Clara D. M. van Karnebeek, Sara Mostafavi
Targeted versus untargeted omics — the CAFSA story
Maria del Mar Amador, Benoit Colsch, Foudil Lamari, Claude Jardel, Farid Ichou, Agnès Rastetter, Frédéric Sedel, Fabien Jourdan, Clément Frainay, Ronald A. Wevers, Emmanuel Roze, Christel Depienne, Christophe Junot, Fanny Mochel
Contribution of tandem mass spectrometry to the diagnosis of lysosomal storage disorders
Monique Piraud, Magali Pettazzoni, Pamela Lavoie, Séverine Ruet, Cécile Pagan, David Cheillan, Philippe Latour, Christine Vianey-Saban, Christiane Auray-Blais, Roseline Froissart
Functional characterisation of peroxisomal β-oxidation disorders in fibroblasts using lipidomics
Katharina Herzog, Mia L. Pras-Raves, Sacha Ferdinandusse, Martin A. T. Vervaart, Angela C. M. Luyf, Antoine H. C. van Kampen, Ronald J. A. Wanders, Hans R. Waterham, Frédéric M. Vaz
Plasma lipidomics as a diagnostic tool for peroxisomal disorders
Katharina Herzog, Mia L. Pras-Raves, Sacha Ferdinandusse, Martin A. T. Vervaart, Angela C. M. Luyf, Antoine H. C. van Kampen, Ronald J. A. Wanders, Hans R. Waterham, Frédéric M. Vaz
Clinical glycomics for the diagnosis of congenital disorders of glycosylation
Nurulamin Abu Bakar, Dirk J. Lefeber, Monique van Scherpenzeel
Chemical glycomics enrichment: imaging the recycling of sialic acid in living cells
Pierre André Gilormini, Cédric Lion, Dorothée Vicogne, Yann Guérardel, François Foulquier, Christophe Biot
“Transcriptomics”: molecular diagnosis of inborn errors of metabolism via RNA-sequencing
Laura S. Kremer, Saskia B. Wortmann, Holger Prokisch
Advances in computer-assisted syndrome recognition by the example of inborn errors of metabolism
Jean T. Pantel, Max Zhao, Martin A. Mensah, Nurulhuda Hajjir, Tzung-Chien Hsieh, Yair Hanani, Nicole Fleischer, Tom Kamphans, Stefan Mundlos, Yaron Gurovich, Peter M. Krawitz
Recognizable phenotypes in CDG
Carlos R. Ferreira, Ruqaia Altassan, Dorinda Marques-Da-Silva, Rita Francisco, Jaak Jaeken, Eva Morava
Text-based phenotypic profiles incorporating biochemical phenotypes of inborn errors of metabolism improve phenomics-based diagnosis
Jessica J. Y. Lee, Michael M. Gottlieb, Jake Lever, Steven J. M. Jones, Nenad Blau, Clara D. M. van Karnebeek, Wyeth W. Wasserman
The rendering of human phenotype and rare diseases in ICD-11
Christopher G. Chute
The role of the clinician in the multi-omics era: are you ready?
Clara D. M. van Karnebeek, Saskia B. Wortmann, Maja Tarailo-Graovac, Mirjam Langeveld, Carlos R. Ferreira, Jiddeke M. van de Kamp, Carla E. Hollak, Wyeth W. Wasserman, Hans R. Waterham, Ron A. Wevers, Tobias B. Haack, Ronald J.A. Wanders, Kym M. Boycott