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Genetic diagnosis of Mendelian disorders via RNA sequencing
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, Eliška Koňařiková, 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
doi: https://doi.org/10.1101/066738
Laura S Kremer
1Institute of Human Genetics, Helmholtz Zentrum München, 85764 Neuherberg, Germany
2Institute of Human Genetics, Klinikum rechts der Isar, Technische Universität München, 81675 München, Germany
Daniel M Bader
3Department of Informatics, Technische Universität München, 85748 Garching, Germany
4Quantitative Biosciences Munich, Gene Center, Department of Biochemistry, Ludwig Maximilian Universität München, 81377 Munich, Germany
Christian Mertes
3Department of Informatics, Technische Universität München, 85748 Garching, Germany
Robert Kopajtich
1Institute of Human Genetics, Helmholtz Zentrum München, 85764 Neuherberg, Germany
2Institute of Human Genetics, Klinikum rechts der Isar, Technische Universität München, 81675 München, Germany
Garwin Pichler
5Department of Proteomics and Signal Transduction, Max-Planck Institute of Biochemistry, 82152 Martinsried, Germany
Arcangela Iuso
1Institute of Human Genetics, Helmholtz Zentrum München, 85764 Neuherberg, Germany
2Institute of Human Genetics, Klinikum rechts der Isar, Technische Universität München, 81675 München, Germany
Tobias B Haack
1Institute of Human Genetics, Helmholtz Zentrum München, 85764 Neuherberg, Germany
2Institute of Human Genetics, Klinikum rechts der Isar, Technische Universität München, 81675 München, Germany
Elisabeth Graf
1Institute of Human Genetics, Helmholtz Zentrum München, 85764 Neuherberg, Germany
2Institute of Human Genetics, Klinikum rechts der Isar, Technische Universität München, 81675 München, Germany
Thomas Schwarzmayr
1Institute of Human Genetics, Helmholtz Zentrum München, 85764 Neuherberg, Germany
2Institute of Human Genetics, Klinikum rechts der Isar, Technische Universität München, 81675 München, Germany
Caterina Terrile
1Institute of Human Genetics, Helmholtz Zentrum München, 85764 Neuherberg, Germany
Eliška Koňařiková
1Institute of Human Genetics, Helmholtz Zentrum München, 85764 Neuherberg, Germany
Birgit Repp
1Institute of Human Genetics, Helmholtz Zentrum München, 85764 Neuherberg, Germany
2Institute of Human Genetics, Klinikum rechts der Isar, Technische Universität München, 81675 München, Germany
Gabi Kastenmüller
6Institute of Bioinformatics and Systems Biology, Helmholtz Zentrum München, 85764 Neuherberg, Germany
Jerzy Adamski
7Institute of Experimental Genetics, Genome Analysis Center, Helmholtz Zentrum München, German Research Center for Environmental Health, 85764 Neuherberg, Germany
Peter Lichtner
1Institute of Human Genetics, Helmholtz Zentrum München, 85764 Neuherberg, Germany
Christoph Leonhardt
8Neuropädiatrie, Neonatologie, 78050 Villingen-Schwenningen, Germany
Benoit Funalot
9INSERM U1163, Université Paris Descartes – Sorbonne Paris Cité, Institut Imagine, 75015 Paris, France
Alice Donati
10Metabolic Unit, A. Meyer Children’s Hospital, Florence, Italy
Valeria Tiranti
11Unit of Molecular Neurogenetics, Foundation IRCCS (Istituto di Ricovero e Cura a Carettere Scientifico) Neurological Institute “Carlo Besta7#x201D;, 20126 Milan, Italy
Anne Lombes
12Inserm UMR 1016, Institut Cochin, 75014 Paris, France
13CNRS UMR 8104, Institut Cochin, 75014 Paris, France
14Université Paris V René Descartes, Institut Cochin, 75014 Paris, France
Claude Jardel
12Inserm UMR 1016, Institut Cochin, 75014 Paris, France
15AP/HP, GHU Pitié-Salpêtrière, Service de Biochimie Métabolique, 75013, Paris, France
Dieter Gläser
16Genetikum, Genetic Counseling and Diagnostics, 89231 Neu-Ulm, Germany
Robert W. Taylor
17Wellcome Trust Centre for Mitochondrial Research, Institute of Neuroscience, Newcastle University, Newcastle upon Tyne, NE2 4HH, UK
Daniele Ghezzi
11Unit of Molecular Neurogenetics, Foundation IRCCS (Istituto di Ricovero e Cura a Carettere Scientifico) Neurological Institute “Carlo Besta7#x201D;, 20126 Milan, Italy
Johannes A Mayr
18Department of Pediatrics, Paracelsus Medical University, A-5020 Salzburg, Austria
Agnes Rötig
8Neuropädiatrie, Neonatologie, 78050 Villingen-Schwenningen, Germany
Peter Freisinger
19Department of Pediatrics, Klinikum Reutlingen, 72764 Reutlingen, Germany
Felix Distelmaier
20Department of General Pediatrics, Neonatology and Pediatric Cardiology, University Children’s Hospital, Heinrich-Heine-University Düsseldorf, 40225 Düsseldorf, Germany
Tim M Strom
1Institute of Human Genetics, Helmholtz Zentrum München, 85764 Neuherberg, Germany
2Institute of Human Genetics, Klinikum rechts der Isar, Technische Universität München, 81675 München, Germany
Thomas Meitinger
1Institute of Human Genetics, Helmholtz Zentrum München, 85764 Neuherberg, Germany
2Institute of Human Genetics, Klinikum rechts der Isar, Technische Universität München, 81675 München, Germany
Julien Gagneur
3Department of Informatics, Technische Universität München, 85748 Garching, Germany
4Quantitative Biosciences Munich, Gene Center, Department of Biochemistry, Ludwig Maximilian Universität München, 81377 Munich, Germany
Holger Prokisch
1Institute of Human Genetics, Helmholtz Zentrum München, 85764 Neuherberg, Germany
2Institute of Human Genetics, Klinikum rechts der Isar, Technische Universität München, 81675 München, Germany
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Posted January 16, 2017.
Genetic diagnosis of Mendelian disorders via RNA sequencing
Laura S Kremer, Daniel M Bader, Christian Mertes, Robert Kopajtich, Garwin Pichler, Arcangela Iuso, Tobias B Haack, Elisabeth Graf, Thomas Schwarzmayr, Caterina Terrile, Eliška Koňařiková, 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
bioRxiv 066738; doi: https://doi.org/10.1101/066738
Genetic diagnosis of Mendelian disorders via RNA sequencing
Laura S Kremer, Daniel M Bader, Christian Mertes, Robert Kopajtich, Garwin Pichler, Arcangela Iuso, Tobias B Haack, Elisabeth Graf, Thomas Schwarzmayr, Caterina Terrile, Eliška Koňařiková, 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
bioRxiv 066738; doi: https://doi.org/10.1101/066738
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