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SOUND

Statistical multi-Omics UNDerstanding of Patient Samples

Total Cost €

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EC-Contrib. €

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Partnership

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 SOUND project word cloud

Explore the words cloud of the SOUND project. It provides you a very rough idea of what is the project "SOUND" about.

technologies    stage    tools    create    soon    interventions    biology    lab    reducing    patient    publication    seamless    options    genetics    visual    innovation    breaking    sound    sectors    omic    000s    translating    transdisciplinary    community    interfaces    clinical    modular    barriers    treatment    reporting    developer    informed    commercial    lower    multiple    computationally    ground    entry    international    statistical    combination    medical    oncology    personalizing    rapid    manner    physician    statistically    inference    integration    healthcare    interdisciplinary    presentation    data    discovery    medicine    bioinformatic    genomic    quality    vii    industry    disease    academic    samples    analytical    omics    types    reusable    source    solutions    tutorials    biostatisticians    developers    regular    toolkit    team    biggest    de    standard    efficient    scientists    training    structures    introduce    facto    software    dramatically    vi    online    interoperable    bioinformaticians    collaborative    personal    courses    excellent    barrier    bottleneck    innovative   

Project "SOUND" data sheet

The following table provides information about the project.

Coordinator
EUROPEAN MOLECULAR BIOLOGY LABORATORY 

Organization address
address: Meyerhofstrasse 1
city: HEIDELBERG
postcode: 69117
website: http://www.embl.de

contact info
title: n.a.
name: n.a.
surname: n.a.
function: n.a.
email: n.a.
telephone: n.a.
fax: n.a.

 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

 Partnership

Take a look of project's partnership.

# participants  country  role  EC contrib. [€] 
1    EUROPEAN MOLECULAR BIOLOGY LABORATORY DE (HEIDELBERG) coordinator 650˙403.00
2    HEALTH RESEARCH INC US (BUFFALO) participant 399˙593.00
3    KLINIKUM RECHTS DER ISAR DER TECHNISCHEN UNIVERSITAT MUNCHEN DE (MUENCHEN) participant 331˙000.00
4    THE CHANCELLOR MASTERS AND SCHOLARSOF THE UNIVERSITY OF CAMBRIDGE UK (CAMBRIDGE) participant 323˙261.00
5    BEDATADRIVEN BV NL (S GRAVENHAGE) participant 318˙750.00
6    INSTITUTO DE ENGENHARIA MECANICA PT (LISBOA) participant 315˙928.00
7    DEUTSCHES KREBSFORSCHUNGSZENTRUM HEIDELBERG DE (HEIDELBERG) participant 301˙375.00
8    TECHNISCHE UNIVERSITAET MUENCHEN DE (MUENCHEN) participant 274˙570.00
9    LUDWIG-MAXIMILIANS-UNIVERSITAET MUENCHEN DE (MUENCHEN) participant 38˙179.00
10    EIDGENOESSISCHE TECHNISCHE HOCHSCHULE ZUERICH CH (ZUERICH) participant 0.00
11    FRED HUTCHINSON CANCER RESEARCH CENTER NON PROFIT CORPORATION US (SEATTLE WA) participant 0.00
12    UNIVERSITAT ZURICH CH (ZURICH) participant 0.00
13    UNIVERSITATSKLINIKUM HEIDELBERG DE (HEIDELBERG) participant 0.00

Map

 Project objective

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.

 Deliverables

List of deliverables.
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.

 Publications

year authors and title journal last update
List of publications.
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, Eliška Koňaříková, 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
Multi‐Omics Factor Analysis—a framework for unsupervised integration of multi‐omics data sets
published pages: e8124, ISSN: 1744-4292, DOI: 10.15252/msb.20178124
Molecular Systems Biology 14/6 2019-10-10
2018 André Veríssimo, 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 Veríssimo, 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, Eliška Koňaříková, 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 Veríssimo, 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 Veríssimo, 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
“Transcriptomics”: 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 Veríssimo, 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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