How Machine Learning and Statistical Models Advance Molecular Diagnostics of Rare Disorders Via Analysis of RNA Sequencing Data by Lea D. Schlieben, Lea D. Schlieben, Holger Prokisch, Holger Prokisch, Vicente A. Yépez, Vicente A. Yépez

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OCR-Stats: Robust estimation and statistical testing of mitochondrial respiration activities using Seahorse XF Analyzer. by Vicente A Yépez, Laura S Kremer, Arcangela Iuso, Mirjana Gusic, Robert Kopajtich, Eliška Koňaříková, Agnieszka Nadel, Leonhard Wachutka, Holger Prokisch, Julien Gagneur

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Author Correction: Detection of aberrant splicing events in RNA-seq data using FRASER by Christian Mertes, Ines F. Scheller, Vicente A. Yépez, Muhammed H. Çelik, Yingjiqiong Liang, Laura S. Kremer, Mirjana Gusic, Holger Prokisch, Julien Gagneur

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Detection of aberrant splicing events in RNA-seq data using FRASER by Christian Mertes, Ines F. Scheller, Vicente A. Yépez, Muhammed H. Çelik, Yingjiqiong Liang, Laura S. Kremer, Mirjana Gusic, Holger Prokisch, Julien Gagneur

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Diagnostic Odyssey in an Adult Patient with Ophthalmologic Abnormalities and Hearing Loss: Contribution of RNA-Seq to the Diagnosis of a PEX1 Deficiency by Gerard Muñoz-Pujol, Socorro Alforja-Castiella, Ricardo Casaroli-Marano, Blai Morales-Romero, Judit García-Villoria, Vicente A. Yépez, Julien Gagneur, Mirjana Gusic, Holger Prokisch, Frederic Tort, Antonia Ribes

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Inhibition of oxidative stress in cholinergic projection neurons fully rescues aging-associated olfactory circuit degeneration in Drosophila by Ashiq Hussain, Atefeh Pooryasin, Mo Zhang, Laura F Loschek, Marco La Fortezza, Anja B Friedrich, Catherine-Marie Blais, Habibe K Üçpunar, Vicente A Yépez, Martin Lehmann, Nicolas Gompel, Julien Gagneur, Stephan J Sigrist, Ilona C Grunwald Kadow

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Diagnostic potential of the amniotic fluid cells transcriptome in deciphering mendelian disease: a proof-of-concept by Mianne Lee, Anna K. Y. Kwong, Martin M. C. Chui, Jeffrey F. T. Chau, Christopher C. Y. Mak, Sandy L. K. Au, Hei Man Lo, Kelvin Y. K. Chan, Vicente A. Yépez, Julien Gagneur, Anita S. Y. Kan, Brian H. Y. Chung

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Clinical implementation of RNA sequencing for Mendelian disease diagnostics by Vicente A. Yépez, Mirjana Gusic, Robert Kopajtich, Christian Mertes, Nicholas H. Smith, Charlotte L. Alston, Rui Ban, Skadi Beblo, Riccardo Berutti, Holger Blessing, Elżbieta Ciara, Felix Distelmaier, Peter Freisinger, Johannes Häberle, Susan J. Hayflick, Maja Hempel, Yulia S. Itkis, Yoshihito Kishita, Thomas Klopstock, Tatiana D. Krylova, Costanza Lamperti, Dominic Lenz, Christine Makowski, Signe Mosegaard, Michaela F. Müller, Gerard Muñoz-Pujol, Agnieszka Nadel, Akira Ohtake, Yasushi Okazaki, Elena Procopio, Thomas Schwarzmayr, Joél Smet, Christian Staufner, Sarah L. Stenton, Tim M. Strom, Caterina Terrile, Frederic Tort, Rudy Van Coster, Arnaud Vanlander, Matias Wagner, Manting Xu, Fang Fang, Daniele Ghezzi, Johannes A. Mayr, Dorota Piekutowska-Abramczuk, Antonia Ribes, Agnès Rötig, Robert W. Taylor, Saskia B. Wortmann, Kei Murayama, Thomas Meitinger, Julien Gagneur, Holger Prokisch

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