Detecting tandem repeat variants in coding regions using code-adVNTR by Jonghun Park, Mehrdad Bakhtiari, Bernt Popp, Michael Wiesener, Vineet Bafna

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Challenging Disease Ontology by Instances of Atypical PKHD1 and PKD1 Genetics by Jonathan de Fallois, Ria Schönauer, Johannes Münch, Mato Nagel, Bernt Popp, Jan Halbritter

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Approach to Cohort-Wide Re-Analysis of Exome Data in 1000 Individuals with Neurodevelopmental Disorders by Insa Halfmeyer, Tobias Bartolomaeus, Bernt Popp, Maximilian Radtke, Tobias Helms, Julia Hentschel, Denny Popp, Rami Abou Jamra

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The mutational and phenotypic spectrum of TUBA1A-associated tubulinopathy by Moritz Hebebrand, Ulrike Hüffmeier, Regina Trollmann, Ute Hehr, Steffen Uebe, Arif B. Ekici, Cornelia Kraus, Mandy Krumbiegel, André Reis, Christian T. Thiel, Bernt Popp

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Phenotype-tissue expression and exploration (PTEE) resource facilitates the choice of tissue for RNA-seq-based clinical genetics studies by Akhil Velluva, Maximillian Radtke, Susanne Horn, Bernt Popp, Konrad Platzer, Erind Gjermeni, Chen-Ching Lin, Johannes R. Lemke, Antje Garten, Torsten Schöneberg, Matthias Blüher, Rami Abou Jamra, Diana Le Duc

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aRgus: Multilevel visualization of non-synonymous single nucleotide variants & advanced pathogenicity score modeling for genetic vulnerability assessment by Julian Schröter, Tal Dattner, Jennifer Hüllein, Alejandra Jayme, Vincent Heuveline, Georg F. Hoffmann, Stefan Kölker, Dominic Lenz, Thomas Opladen, Bernt Popp, Christian P. Schaaf, Christian Staufner, Steffen Syrbe, Sebastian Uhrig, Daniel Hübschmann, Heiko Brennenstuhl

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Extended genomic HLA typing identifies previously unrecognized mismatches in living kidney transplantation by Claudia Lehmann, Sarah Pehnke, Antje Weimann, Anette Bachmann, Katalin Dittrich, Friederike Petzold, Daniel Fürst, Jonathan de Fallois, Ramona Landgraf, Reinhard Henschler, Tom H. Lindner, Jan Halbritter, Jan Halbritter, Ilias Doxiadis, Bernt Popp, Johannes Münch, Johannes Münch

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Breast MRI texture analysis for prediction of BRCA-associated genetic risk by Georgia Vasileiou, Maria J. Costa, Christopher Long, Iris R. Wetzler, Juliane Hoyer, Cornelia Kraus, Bernt Popp, Julius Emons, Marius Wunderle, Evelyn Wenkel, Michael Uder, Matthias W. Beckmann, Sebastian M. Jud, Peter A. Fasching, Alexander Cavallaro, André Reis, Matthias Hammon

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Tumor microenvironment‐dependent epigenetic imprinting in the vasculature predicts colon cancer outcome by Elisabeth Naschberger, Maximilian Fuchs, Nicholas Dickel, Meik Kunz, Bernt Popp, Charles Gwellem Anchang, Richard Demmler, Yanmin Lyu, Steffen Uebe, Arif Bülent Ekici, Carol Immanuel Geppert, Arndt Hartmann, Christian Flierl, Katja Petter, Tobias Gass, Simon Völkl, Michael Scharl, Andreas Ramming, Claudia Günther, Susanne Merkel, Vera Simone Schellerer, Michael Stürzl

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CERT1 mutations perturb human development by disrupting sphingolipid homeostasis by Charlotte Gehin, Museer A. Lone, Winston Lee, Laura Capolupo, Sylvia Ho, Adekemi M. Adeyemi, Erica H. Gerkes, Alexander P.A. Stegmann, Estrella López-Martín, Eva Bermejo-Sánchez, Beatriz Martínez-Delgado, Christiane Zweier, Cornelia Kraus, Bernt Popp, Vincent Strehlow, Daniel Gräfe, Ina Knerr, Eppie R. Jones, Stefano Zamuner, Luciano A. Abriata, Vidya Kunnathully, Brandon E. Moeller, Anthony Vocat, Samuel Rommelaere, Jean-Philippe Bocquete, Evelyne Ruchti, Greta Limoni, Marine Van Campenhoudt, Samuel Bourgeat, Petra Henklein, Christian Gilissen, Bregje W. van Bon, Rolph Pfundt, Marjolein H. Willemsen, Jolanda H. Schieving, Emanuela Leonardi, Fiorenza Soli, Alessandra Murgia, Hui Guo, Qiumeng Zhang, Kun Xia, Christina R. Fagerberg, Christoph P. Beier, Martin J. Larsen, Irene Valenzuela, Paula Fernández-Álvarez, Shiyi Xiong, Robert Śmigiel, Vanesa López-González, Lluís Armengol, Manuela Morleo, Angelo Selicorni, Annalaura Torella, Moira Blyth, Nicola S. Cooper, Valerie Wilson, Renske Oegema, Yvan Herenger, Aurore Garde, Ange-Line Bruel, Frederic Tran Mau-Them, Alexis B.R. Maddocks, Jennifer M. Bain, Musadiq A. Bhat, Gregory Costain, Peter Kannu, Ashish Marwaha, Neena L. Champaigne, Michael J. Friez, Ellen B. Richardson, Vykuntaraju K. Gowda, Varunvenkat M. Srinivasan, Yask Gupta, Tze Y. Lim, Simone Sanna-Cherchi, Bruno Lemaitre, Toshiyuki Yamaji, Kentaro Hanada, John E. Burke, Ana Marjia Jakšić, Brian D. McCabe, Paolo De Los Rios, Thorsten Hornemann, Giovanni D’Angelo, Vincenzo A. Gennarino

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