Explore the words cloud of the SOUND project. It provides you a very rough idea of what is the project "SOUND" about.
The following table provides information about the project.
Coordinator |
EUROPEAN MOLECULAR BIOLOGY LABORATORY
Organization address contact info |
Coordinator Country | Germany [DE] |
Project website | http://www.sound-biomed.eu |
Total cost | 3˙656˙977 € |
EC max contribution | 2˙953˙062 € (81%) |
Programme |
1. H2020-EU.3.1.6. (Health care provision and integrated care) |
Code Call | H2020-PHC-2014-two-stage |
Funding Scheme | RIA |
Starting year | 2015 |
Duration (year-month-day) | from 2015-09-01 to 2018-08-31 |
Take a look of project's partnership.
Bioinformatic analysis is the biggest bottleneck in many genomic medicine projects. Our objective is to enable researchers to dramatically increase statistically informed use of personal multi-omic data in medicine. Soon, multiple types of omic technologies will be applied to 100,000s of patient-derived samples, with the three-stage goal of better understanding disease biology, discovery of new interventions, and personalizing the choice of treatment options. Our interdisciplinary team of biostatisticians, bioinformaticians, software developers and physician-scientists will address the analysis bottleneck with statistically and computationally sound methods. The SOUND consortium will (i) develop widely used and excellent bioinformatic and statistical methods and open source software for common but challenging tasks, including data pre-processing, data integration, statistical inference, visual presentation, and publication-quality reporting; (ii) introduce novel approaches to ground breaking multi-omics applications in oncology and medical genetics; (iii) develop interoperable data structures and software interfaces that enable seamless combination of tools; (iv) support a collaborative international academic and industry developer community; (v) enable rapid development and execution of high-quality software; (vi) lower the barrier to entry into this transdisciplinary field by providing simple, robust, easy-to-use solutions; and (vii) develop a training programme with regular courses and comprehensive online tutorials. Our aim is to create the de facto standard toolkit used in every clinical research lab for statistically informed analysis of personal multi-omic data. SOUND will increase research and innovation opportunities by reducing barriers of entry to genomic medicine across academic, healthcare and commercial sectors by translating in a rapid and efficient manner complex and innovative analytical approaches into modular, interoperable, reusable applications.
Technical report on existing and novel methods | Documents, reports | 2019-10-10 13:00:29 |
Technical report describing the design of re-capture platform for deep sequencing and validation | Documents, reports | 2019-10-10 13:00:28 |
Technical report and software for predictive modelling of drug response and detection of outlier samples | Other | 2019-10-10 13:00:28 |
Technical report on biomarkers analysed with transcriptome and metabolome data and technical report on novel pathomechanisms | Documents, reports | 2019-10-10 13:00:28 |
Open-source software to estimate structured sparse models from multi-omics data | Other | 2019-10-10 13:00:29 |
Website of InteractiveReports for select outcomes of WP2, 5-7. | Websites, patent fillings, videos etc. | 2019-10-10 13:00:28 |
Technical report on disease classification based on multilevel data integration | Documents, reports | 2019-10-10 13:00:28 |
Open-source software CAUSAMET and BIOMARK | Other | 2019-10-10 13:00:29 |
Open-source software implementing InteractiveReports and catalogue of standard templates. | Other | 2019-10-10 13:00:28 |
Open-source software that implements tumour diversity time series analysis | Other | 2019-10-10 13:00:28 |
Open-source software implementing end-to-end analysis and integrating the results from T1.1-1.5 | Other | 2019-10-10 13:00:29 |
Technical report with evaluation of performance improvement or regression from D9.2 | Documents, reports | 2019-10-10 13:00:28 |
SOUNDData and SOUNDHub public data resources | Websites, patent fillings, videos etc. | 2019-10-10 13:00:28 |
White paper description software design principles and open-source software implementation of SOUNDHub and SOUNDData. | Documents, reports | 2019-10-10 13:00:28 |
Open-source software to implement causal stability ranking for high-dimensional genotype data | Other | 2019-10-10 13:00:28 |
Open-source software CAUSEXPR, to prioritize likely causal mutations from genotype and gene expression | Other | 2019-10-10 13:00:28 |
Technical report on approaches to outlier detection in patient ’omics data | Documents, reports | 2019-10-10 13:00:28 |
Technical report with best practice guidelines and software package | Documents, reports | 2019-10-10 13:00:28 |
Technical report describing the data structure and methods for operating on screening data, as described in T1.1 | Documents, reports | 2019-10-10 13:00:28 |
Technical report on new disease entities that were identified using novel statistical methods | Documents, reports | 2019-10-10 13:00:27 |
Software supporting the molecular tumour characterization pipeline and predicting perturbed pathways | Other | 2019-10-10 13:00:27 |
Open-source software with updated Renjin and code library of benchmarks and technical report describing most significant performance bottlenecks | Other | 2019-10-10 13:00:27 |
Open-source software for the standardized application of existing methods in liquid biopsy data analysis | Other | 2019-10-10 13:00:28 |
Software package for automated benchmarking | Other | 2019-10-10 13:00:28 |
Take a look to the deliverables list in detail: detailed list of SOUND deliverables.
year | authors and title | journal | last update |
---|---|---|---|
2018 |
Zhiwen Xu, Wing-Sze Lo, David B. Beck, Luise A. Schuch, Monika Oláhová, Robert Kopajtich, Yeeting E. Chong, Charlotte L. Alston, Elias Seidl, Liting Zhai, Ching-Fun Lau, Donna Timchak, Charles A. LeDuc, Alain C. Borczuk, Andrew F. Teich, Jane Juusola, Christina Sofeso, Christoph Müller, Germaine Pierre, Tom Hilliard, Peter D. Turnpenny, Matias Wagner, Matthias Kappler, Frank Brasch, John Paul Bouffard, Leslie A. Nangle, Xiang-Lei Yang, Mingjie Zhang, Robert W. Taylor, Holger Prokisch, Matthias Griese, Wendy K. Chung, Paul Schimmel Bi-allelic Mutations in Phe-tRNA Synthetase Associated with a Multi-system Pulmonary Disease Support Non-translational Function published pages: 100-114, ISSN: 0002-9297, DOI: 10.1016/j.ajhg.2018.06.006 |
The American Journal of Human Genetics 103/1 | 2019-10-10 |
2017 |
Laura S. Kremer, Daniel M. Bader, Christian Mertes, Robert Kopajtich, Garwin Pichler, Arcangela Iuso, Tobias B. Haack, Elisabeth Graf, Thomas Schwarzmayr, Caterina Terrile, EliÅ¡ka KoňaÅ™Ãková, Birgit Repp, Gabi Kastenmüller, Jerzy Adamski, Peter Lichtner, Christoph Leonhardt, Benoit Funalot, Alice Donati, Valeria Tiranti, Anne Lombes, Claude Jardel, Dieter Gläser, Robert W. Taylor, Daniele Ghezzi, Johannes A. Mayr, Agnes Rötig, Peter Freisinger, Felix Distelmaier, Tim M. Strom, Thomas Meitinger, Julien Gagneur, Holger Prokisch Genetic diagnosis of Mendelian disorders via RNA sequencing published pages: 15824, ISSN: 2041-1723, DOI: 10.1038/ncomms15824 |
Nature Communications 8 | 2019-10-10 |
2018 |
Georg Stricker, Mathilde Galinier, Julien Gagneur GenoGAM 2.0: scalable and efficient implementation of genome-wide generalized additive models for gigabase-scale genomes published pages: , ISSN: 1471-2105, DOI: 10.1186/s12859-018-2238-7 |
BMC Bioinformatics 19/1 | 2019-10-10 |
2018 |
Ricard Argelaguet, Britta Velten, Damien Arnol, Sascha Dietrich, Thorsten Zenz, John C Marioni, Florian Buettner, Wolfgang Huber, Oliver Stegle Multiâ€Omics Factor Analysis—a framework for unsupervised integration of multiâ€omics data sets published pages: e8124, ISSN: 1744-4292, DOI: 10.15252/msb.20178124 |
Molecular Systems Biology 14/6 | 2019-10-10 |
2018 |
André VerÃssimo, Eunice Carrasquinha, Marta B. Lopes, Arlindo L. Oliveira, Marie-France Sagot, Susana Vinga Sparse network-based regularization for the analysis of patientomics high-dimensional survival data published pages: , ISSN: , DOI: |
2019-10-10 | |
2018 |
Birgit M. Repp, Elisa Mastantuono, Charlotte L. Alston, Manuel Schiff, Tobias B. Haack, Agnes Rötig, Anna Ardissone, Anne Lombès, Claudia B. Catarino, Daria Diodato, Gudrun Schottmann, Joanna Poulton, Alberto Burlina, An Jonckheere, Arnold Munnich, Boris Rolinski, Daniele Ghezzi, Dariusz Rokicki, Diana Wellesley, Diego Martinelli, Ding Wenhong, Eleonora Lamantea, Elsebet Ostergaard, Ewa Pronicka, Germaine Pierre, Hubert J. M. Smeets, Ilka Wittig, Ingrid Scurr, Irenaeus F. M. de Coo, Isabella Moroni, Joél Smet, Johannes A. Mayr, Lifang Dai, Linda de Meirleir, Markus Schuelke, Massimo Zeviani, Raphael J. Morscher, Robert McFarland, Sara Seneca, Thomas Klopstock, Thomas Meitinger, Thomas Wieland, Tim M. Strom, Ulrike Herberg, Uwe Ahting, Wolfgang Sperl, Marie-Cecile Nassogne, Han Ling, Fang Fang, Peter Freisinger, Rudy Van Coster, Valentina Strecker, Robert W. Taylor, Johannes Häberle, Jerry Vockley, Holger Prokisch, Saskia Wortmann Clinical, biochemical and genetic spectrum of 70 patients with ACAD9 deficiency: is riboflavin supplementation effective? published pages: , ISSN: 1750-1172, DOI: 10.1186/s13023-018-0784-8 |
Orphanet Journal of Rare Diseases 13/1 | 2019-10-10 |
2018 |
Felix Brechtmann, Agne Matuseviciute, Christian Mertes, Vicente A Yepez, Ziga Avsec, Maximilian Herzog, Daniel Magnus Bader, Holger Prokisch, Julien Gagneur OUTRIDER: A statistical method for detecting aberrantly expressed genes in RNA sequencing data published pages: , ISSN: , DOI: 10.1101/322149 |
bioRxiv | 2019-10-10 |
2018 |
Sarah Louise Stenton, Holger Prokisch Advancing genomic approaches to the molecular diagnosis of mitochondrial disease published pages: 399-408, ISSN: 0071-1365, DOI: 10.1042/EBC20170110 |
Essays In Biochemistry 62/3 | 2019-10-10 |
2018 |
Marta B. Lopes, André VerÃssimo, Eunice Carrasquinha, Sandra Casimiro, Niko Beerenwinkel, Susana Vinga Ensemble outlier detection and gene selection in triple-negative breast cancer data published pages: , ISSN: 1471-2105, DOI: 10.1186/s12859-018-2149-7 |
BMC Bioinformatics 19/1 | 2019-10-10 |
2018 |
Pieter Segaert, Marta B Lopes, Sandra Casimiro, Susana Vinga, Peter J Rousseeuw Robust identification of target genes and outliers in triple-negative breast cancer data published pages: 96228021879472, ISSN: 0962-2802, DOI: 10.1177/0962280218794722 |
Statistical Methods in Medical Research | 2019-10-10 |
2018 |
Vicente A. Yépez, Laura S. Kremer, Arcangela Iuso, Mirjana Gusic, Robert Kopajtich, EliÅ¡ka KoňaÅ™Ãková, Agnieszka Nadel, Leonhard Wachutka, Holger Prokisch, Julien Gagneur OCR-Stats: Robust estimation and statistical testing of mitochondrial respiration activities using Seahorse XF Analyzer published pages: e0199938, ISSN: 1932-6203, DOI: 10.1371/journal.pone.0199938 |
PLOS ONE 13/7 | 2019-10-10 |
2017 |
René G. Feichtinger, Monika Oláhová, Yoshihito Kishita, Caterina Garone, Laura S. Kremer, Mikako Yagi, Takeshi Uchiumi, Alexis A. Jourdain, Kyle Thompson, Aaron R. D’Souza, Robert Kopajtich, Charlotte L. Alston, Johannes Koch, Wolfgang Sperl, Elisa Mastantuono, Tim M. Strom, Saskia B. Wortmann, Thomas Meitinger, Germaine Pierre, Patrick F. Chinnery, Zofia M. Chrzanowska-Lightowlers, Robert N. Lightowlers, Salvatore DiMauro, Sarah E. Calvo, Vamsi K. Mootha, Maurizio Moggio, Monica Sciacco, Giacomo P. Comi, Dario Ronchi, Kei Murayama, Akira Ohtake, Pedro Rebelo-Guiomar, Masakazu Kohda, Dongchon Kang, Johannes A. Mayr, Robert W. Taylor, Yasushi Okazaki, Michal Minczuk, Holger Prokisch Biallelic C1QBP Mutations Cause Severe Neonatal-, Childhood-, or Later-Onset Cardiomyopathy Associated with Combined Respiratory-Chain Deficiencies published pages: 525-538, ISSN: 0002-9297, DOI: 10.1016/j.ajhg.2017.08.015 |
The American Journal of Human Genetics 101/4 | 2019-10-10 |
2018 |
Eunice Carrasquinha, André VerÃssimo, Susana Vinga Consensus outlier detection in survival analysis using the rank product test published pages: , ISSN: , DOI: 10.1101/421917 |
2019-10-10 | |
2018 |
Miroslav P Milev, Claudio Graziano, Daniela Karall, Willemijn F E Kuper, Noraldin Al-Deri, Duccio Maria Cordelli, Tobias B Haack, Katharina Danhauser, Arcangela Iuso, Flavia Palombo, Tommaso Pippucci, Holger Prokisch, Djenann Saint-Dic, Marco Seri, Daniela Stanga, Giovanna Cenacchi, Koen L I van Gassen, Johannes Zschocke, Christine Fauth, Johannes A Mayr, Michael Sacher, Peter M van Hasselt Bi-allelic mutations in TRAPPC2L result in a neurodevelopmental disorder and have an impact on RAB11 in fibroblasts published pages: jmedgenet-2018-1, ISSN: 0022-2593, DOI: 10.1136/jmedgenet-2018-105441 |
Journal of Medical Genetics | 2019-10-10 |
2018 |
Arcangela Iuso, Marit Wiersma, Hans-Joachim Schüller, Ben Pode-Shakked, Dina Marek-Yagel, Mathias Grigat, Thomas Schwarzmayr, Riccardo Berutti, Bader Alhaddad, Bart Kanon, Nicola A. Grzeschik, Jürgen G. Okun, Zeev Perles, Yishay Salem, Ortal Barel, Amir Vardi, Marina Rubinshtein, Tal Tirosh, Gal Dubnov-Raz, Ana C. Messias, Caterina Terrile, Iris Barshack, Alex Volkov, Camilla Avivi, Eran Eyal, Elisa Mastantuono, Muhamad Kumbar, Shachar Abudi, Matthias Braunisch, Tim M. Strom, Thomas Meitinger, Georg F. Hoffmann, Holger Prokisch, Tobias B. Haack, Bianca J.J.M. Brundel, Dorothea Haas, Ody C.M. Sibon, Yair Anikster Mutations in PPCS , Encoding Phosphopantothenoylcysteine Synthetase, Cause Autosomal-Recessive Dilated Cardiomyopathy published pages: 1018-1030, ISSN: 0002-9297, DOI: 10.1016/j.ajhg.2018.03.022 |
The American Journal of Human Genetics 102/6 | 2019-10-10 |
2018 |
Dongxue Wang, Basak Eraslan, Thomas Wieland, Bjorn M Hallstrom, Thomas Hopf, Daniel Paul Zolg, Jana Zecha, Anna Asplund, Li-hua Li, Chen Meng, Martin Frejno, Tobias Schmidt, Karsten Schnatbaum, Mathias Wilhelm, Fredrik Ponten, Mathias Uhlen, Julien Gagneur, Hannes Hahne, Bernhard Kuster A deep proteome and transcriptome abundance atlas of 29 healthy human tissues published pages: , ISSN: , DOI: 10.1101/357137 |
bioRxiv | 2019-10-10 |
2018 |
Eunice Carrasquinha, André VerÃssimo, Marta B. Lopes, Susana Vinga Identification of influential observations in high-dimensional cancer survival data through the rank product test published pages: , ISSN: 1756-0381, DOI: 10.1186/s13040-018-0162-z |
BioData Mining 11/1 | 2019-10-10 |
2018 |
Sascha Dietrich, Małgorzata Oleś, Junyan Lu, Leopold Sellner, Simon Anders, Britta Velten, Bian Wu, Jennifer Hüllein, Michelle da Silva Liberio, Tatjana Walther, Lena Wagner, Sophie Rabe, Sonja Ghidelli-Disse, Marcus Bantscheff, Andrzej K. Oleś, Mikołaj Słabicki, Andreas Mock, Christopher C. Oakes, Shihui Wang, Sina Oppermann, Marina Lukas, Vladislav Kim, Martin Sill, Axel Benner, Anna Jauch, Lesley Ann Sutton, Emma Young, Richard Rosenquist, Xiyang Liu, Alexander Jethwa, Kwang Seok Lee, Joe Lewis, Kerstin Putzker, Christoph Lutz, Davide Rossi, Andriy Mokhir, Thomas Oellerich, Katja Zirlik, Marco Herling, Florence Nguyen-Khac, Christoph Plass, Emma Andersson, Satu Mustjoki, Christof von Kalle, Anthony D. Ho, Manfred Hensel, Jan Dürig, Ingo Ringshausen, Marc Zapatka, Wolfgang Huber, Thorsten Zenz Drug-perturbation-based stratification of blood cancer published pages: 427-445, ISSN: 0021-9738, DOI: 10.1172/JCI93801 |
Journal of Clinical Investigation 128/1 | 2019-10-10 |
2018 |
Laura S. Kremer, Saskia B. Wortmann, Holger Prokisch “Transcriptomicsâ€: molecular diagnosis of inborn errors of metabolism via RNA-sequencing published pages: 525-532, ISSN: 0141-8955, DOI: 10.1007/s10545-017-0133-4 |
Journal of Inherited Metabolic Disease 41/3 | 2019-10-10 |
2017 |
Ruth I. C. Glasgow, Kyle Thompson, Inês A. Barbosa, Langping He, Charlotte L. Alston, Charu Deshpande, Michael A. Simpson, Andrew A. M. Morris, Axel Neu, Ulrike Löbel, Julie Hall, Holger Prokisch, Tobias B. Haack, Maja Hempel, Robert McFarland, Robert W. Taylor Novel GFM2 variants associated with early-onset neurological presentations of mitochondrial disease and impaired expression of OXPHOS subunits published pages: 227-235, ISSN: 1364-6745, DOI: 10.1007/s10048-017-0526-4 |
neurogenetics 18/4 | 2019-10-10 |
2018 |
Basak Eraslan, Dongxue Wang, Mirjana Gusic, Holger Prokisch, Bjorn M Hallstrom, Mathias Uhlen, Anna Asplund, Fredrik Ponten, Thomas Wieland, Thomas Hopf, Hannes Hahne, Bernhard Kuster, Julien Gagneur Quantification and discovery of sequence determinants of protein per mRNA amount in 29 human tissues published pages: , ISSN: , DOI: 10.1101/353763 |
bioRxiv | 2019-10-10 |
2018 |
Christos Dimitrakopoulos, Sravanth Kumar Hindupur, Luca Häfliger, Jonas Behr, Hesam Montazeri, Michael N Hall, Niko Beerenwinkel Network-based integration of multi-omics data for prioritizing cancer genes published pages: 2441-2448, ISSN: 1367-4803, DOI: 10.1093/bioinformatics/bty148 |
Bioinformatics 34/14 | 2019-10-10 |
2016 |
Solaimani P., Kallen M., Bertram A. Using R language based bioinformatic workflows as PaaS published pages: , ISSN: , DOI: 10.7490/f1000research.1113288.1 |
F1000Research | 2019-10-10 |
2016 |
Thomas Thurnherr, Franziska Singer, Daniel J. Stekhoven, Niko Beerenwinkel Genomic variant annotation workflow for clinical applications published pages: 1963, ISSN: 2046-1402, DOI: 10.12688/f1000research.9357.2 |
F1000Research 5 | 2019-10-10 |
2016 |
Lindsey Van Haute, Sabine Dietmann, Laura Kremer, Shobbir Hussain, Sarah F. Pearce, Christopher A. Powell, Joanna Rorbach, Rebecca Lantaff, Sandra Blanco, Sascha Sauer, Urania Kotzaeridou, Georg F. Hoffmann, Yasin Memari, Anja Kolb-Kokocinski, Richard Durbin, Johannes A. Mayr, Michaela Frye, Holger Prokisch, Michal Minczuk Deficient methylation and formylation of mt-tRNAMet wobble cytosine in a patient carrying mutations in NSUN3 published pages: 12039, ISSN: 2041-1723, DOI: 10.1038/ncomms12039 |
Nature Communications 7 | 2019-10-10 |
2017 |
Ariane L. Hofmann, Jonas Behr, Jochen Singer, Jack Kuipers, Christian Beisel, Peter Schraml, Holger Moch, Niko Beerenwinkel Detailed simulation of cancer exome sequencing data reveals differences and common limitations of variant callers published pages: , ISSN: 1471-2105, DOI: 10.1186/s12859-016-1417-7 |
BMC Bioinformatics 18/1 | 2019-10-10 |
2017 |
Georg Stricker, Alexander Engelhardt, Daniel Schulz, Matthias Schmid, Achim Tresch, Julien Gagneur GenoGAM: genome-wide generalized additive models for ChIP-Seq analysis published pages: , ISSN: 1367-4803, DOI: 10.1093/bioinformatics/btx150 |
Bioinformatics | 2019-10-10 |
2016 |
André VerÃssimo, Arlindo Limede Oliveira, Marie-France Sagot, Susana Vinga DegreeCox – a network-based regularization method for survival analysis published pages: , ISSN: 1471-2105, DOI: 10.1186/s12859-016-1310-4 |
BMC Bioinformatics 17/S16 | 2019-10-10 |
2016 |
Laura S Kremer, View ORCID ProfileDaniel M Bader, Christian Mertes, Robert Kopajtich, Garwin Pichler, Arcangela Iuso, Tobias B Haack, Elisabeth Graf, Thomas Schwarzmayr, Caterina Terrile, Eliska Konafikova, Birgit Repp, Gabi Kastenmüller, Jerzy Adamski, Peter Lichtner, Christoph Leonhardt, Benoit Funalot, Alice Donati, Valeria Tiranti, Anne Lombes, Claude Jardel, Dieter Gläser, Robert W Taylor, Daniele Ghezzi, Johannes A Mayr, Agnes Rötig, Peter Freisinger, Felix Distelmaier, Tim M Strom, Thomas Meitinger, Julien Gagneur, Holger Prokisch Genetic diagnosis of Mendelian disorders via RNA sequencing published pages: , ISSN: , DOI: 10.1101/066738 |
2019-10-10 | |
2016 |
Robert Kopajtich, Kei Murayama, Andreas R. Janecke, Tobias B. Haack, Maximilian Breuer, A.S. Knisely, Inga Harting, Toya Ohashi, Yasushi Okazaki, Daisaku Watanabe, Yoshimi Tokuzawa, Urania Kotzaeridou, Stefan Kölker, Sven Sauer, Matthias Carl, Simon Straub, Andreas Entenmann, Elke Gizewski, René G. Feichtinger, Johannes A. Mayr, Karoline Lackner, Tim M. Strom, Thomas Meitinger, Thomas Müller, Akira Ohtake, Georg F. Hoffmann, Holger Prokisch, Christian Staufner Biallelic IARS Mutations Cause Growth Retardation with Prenatal Onset, Intellectual Disability, Muscular Hypotonia, and Infantile Hepatopathy published pages: 414-422, ISSN: 0002-9297, DOI: 10.1016/j.ajhg.2016.05.027 |
The American Journal of Human Genetics 99/2 | 2019-10-10 |
2017 |
Elson Tomás, Susana Vinga, Alexandra M. Carvalho Unsupervised learning of pharmacokinetic responses published pages: , ISSN: 0943-4062, DOI: 10.1007/s00180-016-0707-x |
Computational Statistics | 2019-10-10 |
2017 |
Samira Ait-El-Mkadem, Manal Dayem-Quere, Mirjana Gusic, Annabelle Chaussenot, Sylvie Bannwarth, Bérengère François, Emmanuelle C. Genin, Konstantina Fragaki, Catharina L.M. Volker-Touw, Christelle Vasnier, Valérie Serre, Koen L.I. van Gassen, Françoise Lespinasse, Susan Richter, Graeme Eisenhofer, Cécile Rouzier, Fanny Mochel, Anne De Saint-Martin, Marie-Thérèse Abi Warde, Monique G.M. de Sain-van der Velde, Judith J.M. Jans, Jeanne Amiel, Ziga Avsec, Christian Mertes, Tobias B. Haack, Tim Strom, Thomas Meitinger, Penelope E. Bonnen, Robert W. Taylor, Julien Gagneur, Peter M. van Hasselt, Agnès Rötig, Agnès Delahodde, Holger Prokisch, Sabine A. Fuchs, Véronique Paquis-Flucklinger Mutations in MDH2, Encoding a Krebs Cycle Enzyme, Cause Early-Onset Severe Encephalopathy published pages: 151-159, ISSN: 0002-9297, DOI: 10.1016/j.ajhg.2016.11.014 |
The American Journal of Human Genetics 100/1 | 2019-10-10 |
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The information about "SOUND" are provided by the European Opendata Portal: CORDIS opendata.