Intrafamilial neurological phenotypic variability due to either biallelic or monoallelic pathogenic variants in CACNA1A by Dilbar Mammadova, Cornelia Kraus, Thomas Leis, Bernt Popp, Bernt Popp, Christiane Zweier, Christiane Zweier, Andre Reis, Andre Reis, Regina Trollmann, Regina Trollmann

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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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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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RNA methyltransferase SPOUT1/CENP-32 links mitotic spindle organization with the neurodevelopmental disorder SpADMiSS by Avinash V. Dharmadhikari, Maria Alba Abad, Sheraz Khan, Reza Maroofian, Tristan T. Sands, Farid Ullah, Itaru Samejima, Yanwen Shen, Martin A. Wear, Kiara E. Moore, Elena Kondakova, Natalia Mitina, Theres Schaub, Grace K. Lee, Christine H. Umandap, Sara M. Berger, Alejandro D. Iglesias, Bernt Popp, Rami Abou Jamra, Heinz Gabriel, Stefan Rentas, Alyssa L. Rippert, Christopher Gray, Kosuke Izumi, Laura K. Conlin, Daniel C. Koboldt, Theresa Mihalic Mosher, Scott E. Hickey, Dara V. F. Albert, Haley Norwood, Amy Feldman Lewanda, Hongzheng Dai, Pengfei Liu, Tadahiro Mitani, Dana Marafi, Hatice Koçak Eker, Davut Pehlivan, Jennifer E. Posey, Natalie C. Lippa, Natalie Vena, Erin L. Heinzen, David B. Goldstein, Cyril Mignot, Jean-Madeleine de Sainte Agathe, Nouriya Abbas Al-Sannaa, Mina Zamani, Saeid Sadeghian, Reza Azizimalamiri, Tahere Seifia, Maha S. Zaki, Ghada M. H. Abdel-Salam, Mohamed S. Abdel-Hamid, Lama Alabdi, Fowzan Sami Alkuraya, Heba Dawoud, Aya Lofty, Peter Bauer, Giovanni Zifarelli, Erum Afzal, Faisal Zafar, Stephanie Efthymiou, Daniel Gossett, Meghan C. Towne, Raey Yeneabat, Belen Perez-Duenas, Ana Cazurro-Gutierrez, Edgard Verdura, Veronica Cantarin-Extremera, Ana do Vale Marques, Aleksandra Helwak, David Tollervey, Sandeep N. Wontakal, Vimla S. Aggarwal, Jill A. Rosenfeld, Victor Tarabykin, Shinya Ohta, James R. Lupski, Henry Houlden, William C. Earnshaw, Erica E. Davis, A. Arockia Jeyaprakash, Jun Liao

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