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  • Loss-of-function variants in the CAPN1 activator CD99L2 cause X-linked spastic ataxia.

    Nature communications

    Authors: Benita Menden, Rana D Incebacak Eltemur, German Demidov, Marc Sturm, Joohyun Park, Chrisovalantou Huridou, Florian Fath, Astrid Nümann, Alexander Baumann, Illja J Diets, Claudia Dufke, Martin Regensburger, Maria Rönnefarth, Vera Wilke, Nienke van Os, Stefan Vielhaber, Tim W Rattay, Zacharias Kohl, Susana Peralta, Priscila Pereira Sena, Melanie Kellner, Nadine Weissert, Andreas Traschütz, Lena Zeltner, Kai Boelmans, Natalie Deininger, Leon Schütz, Caspar Gross, Ana Beatriz Hinojosa Amaya, Katrin Raupach, Holger Hengel, Florian Harmuth, Jakob Admard, Ingrid Bader, Sarah Baumann, Friedemann Bender, Andrea Bevot, Almut Bischoff, Felix Boschann, Rebecca Buchert, Daniel Buchzik, Nicolas Casadei, Claudia B Catarino, Isabell Cordts, Kirsten Cremer, Marion Doebler-Neumann, Nadja Ehmke, Miriam Elbracht, Ruth J Falb, Thomas Feindt, Zofia Fleszar, Lea Gerstner, Dieter Gläser, Ute Grasshoff, Sarah Grosch, Kathrin Grundmann, Alexander Gutschalk, Manja Haaga, Stefanie Hayer, Ute Hehr, Yorck Hellenbroich, Wolfram Henn, Barbara Herr, Rebecca Herzog, Veronka Horber, Jonas Deppe, Nadja Kaiser, Christiane Kehrer, Martin Kehrer, Jan Kern, Christoph Keßler, Katharina Khuller, Hannah Klinkhammer, Urania Kotzaeridou, Peter Krawitz, Martina Kreiss, Hanna Küpper, Alice Kuster, Lucia Laugwitz, Anne Lesemann, Nadine Lichey, Tobias Linden, Boris Macek, Janine Magg, Elisabeth Mangold, Eva Manka, Iris Marquardt, Karl Mehnert, David Mengel, Susanne Morlot, Barbara Oehl-Jaschkowitz, Martje G Pauly, Melanie Philipp, Florentine Radelfahr, Maren Rautenberg, Angelika Riess, Carsten Saft, Beate Schlotter-Weigel, Axel Schmidt, Eva M C Schwaibold, Veronika Spahlinger, Stephanie Spranger, Katharina Marie Steiner, Claudia Stendel, Andreas Thieme, Andreas Tzschach, Ana Velic, Sarah Wiethoff, Carlo Wilke, Stephan Züchner, Simone Zittel, Ralf A Husain, Marcus Deschauer, Felix Distelmaier, Andreas Dufke, Holm Graessner, Bernhard Hemmer, Heike Jacobi, Thomas Klockgether, Thomas Klopstock, Xenia Kobeleva, Georg-Christoph Korenke, Alma Kuechler, Gregor Kuhlenbäumer, Ingo Kurth, Huu Phuc Nguyen, Gilbert Wunderlich, Kirsten E Zeuner, Stephan Klebe, Michaela Auer-Grumbach, Michaela Butryn, Jürgen Winkler, Dagmar Timmann, Matthis Synofzik, Bart van de Warrenburg, Rebecca Schüle, Ludger Schöls, Stephan Ossowski, Olaf Riess, Jonasz J Weber, Tobias B Haack

  • Genetic contribution to severe COVID-19 in adults under 60 years without major comorbidities in the German National Pandemic Cohort Network (NAPKON).

    Human genomics

    Authors: Ayda Abolhassani, T Madhusankha Alawathurage, Axel Schmidt, Fabian Brand, Laura L Kilarski, Heidi Altmann, Edgar Dahl, Sandra Frank, Siri Göpel, Frank Hanses, Johannes Christian Hellmuth, Christian Herr, Achim J Kaasch, Robin Kobbe, Margarethe Justine Konik, Isabell Pink, Christoph Römmele, Jan Rupp, Christian S Scheer, Marc A Schneider, Christoph Stellbrink, Hans Christian Stubbe, Phil-Robin Tepasse, Andreas Teufel, István Vadász, Maria J G T Vehreschild, Martin Witzenrath, Gabriele Anton, Isabel Bröhl, Susanne Herold, Thomas Illig, Steffi Jiru-Hillmann, Peter Krawitz, Lazar Mitrov, Alexandra Philipsen, Sina M Pütz, Markus M Noethen, Peter Nuernberg, Jens-Peter Reese, Olaf Riess, Stefan Schreiber, Joachim Schultze, Fridolin Steinbeis, J Janne Vehreschild, Christian Wildberg, Kerstin U Ludwig, Eva C Schulte

  • Molecular genotype-phenotype correlation in ACTB- and ACTG1-related non-muscle actinopathies.

    American journal of human genetics

    Authors: Nataliya Di Donato, Andrew Thom, Andreas Rump, Johannes N Greve, Juan Cadiñanos, Salvatore Calabro, Sara Cathey, Brian Chung, Heidi Cope, Maria Costales, Sara Cuvertino, Philine Dinkel, Kalliopi Erripi, Andrew E Fry, Livia Garavelli, Sabine Hoffjan, Wibke G Janzarik, Insa Kreimer, Grazia Mancini, Purificacion Marin-Reina, Andrea Meinhardt, Indra Niehaus, Daniela Pilz, Ivana Ricca, Fernando Santos Simarro, Evelin Schrock, Anja Marquardt, Manuel H Taft, Kamer Tezcan, Sofia Thunström, Judith Verhagen, Alain Verloes, Bernd Wollnik, Peter Krawitz, Tzung-Chien Hsieh, Michael Seifert, Michael Heide, Catherine B Lawrence, Neil A Roberts, Dietmar J Manstein, Adrian S Woolf, Siddharth Banka

  • Characterization of CTNND2-related neurodevelopmental disease, phenotype-genotype spectrum and WNT dynamics in early neurogenesis.

    Research square

    Authors: Mansoureh Shahsavani, Josephine Wincent, Ricarda Reiter, Andrea Soltysova, Jakob Schuy, Hafdis T Helgadottir, Jesper Eisfeldt, Marlene Ek, Andrej Ficek, Lotta Druschke, Katarina Kusikova, Tzung-Chien Hsieh, Aron Krichhoff, Peter Krawitz, Jing-Mei Li, Gerald Webersinke, Svetlana Gorokhova, Chantal Missirian, Florence Riccardi, Lisa Pavinato, Alfredo Brusco, Giorgia Mandrile, Slavica Trajkova, Francesco Pintus, Biljana Gagachovska, Quinten Waisfisz, Annet van Hagen, Emma Bedoukian, Kosuke Izumi, Leslie Granger, Andrea Petersen, Renske Oegema, Manon Huibers, Florence Demurger, Elise Brischoux-Boucher, Sophie Julia, Guillaume Banneau, M Jesus Zavala, Catalina Lagos, Gabriela M Repetto, Guillaume Jouret, Catherine Kentros, Mythily Ganapathi, Wendy K Chung, Halie May, Susan M Hiatt, Whitley V Kelley, Alisa Förster, Lisa Olfe, Amelle Shillington, Benjamin Dauriat, Sandra Mercier, Benjamin Cogné, Camille Engel, Eric Dahlen, Georg Rosenberger, Thomas Sauvigny, Hamza Hadj Abdallah, Thomas Courtin, Asbjørg Stray-Pedersen, John A Bernat, Vitoria K Paolillo, Florencia Del Viso, Joseph T Alaimo, Isabelle Thiffault, Emily G Farrow, Ana S A Cohen, Serge Weis, Hans-Christoph Duba, Ann Nordgren, Anna Falk, Denisa Weis, Anna Lindstrand

  • Investigating the neuronal role of the proteasomal ATPase subunit gene PSMC5 in neurodevelopmental proteasomopathies.

    Nature communications

    Authors: Sébastien Küry, Janelle E Stanton, Geeske M van Woerden, Amélie Bosc-Rosati, Tzung-Chien Hsieh, Lise Bray, Marielle Oloudé, Cory Rosenfelt, Marie Pier Scott-Boyer, Victoria Most, Tianyun Wang, Jonas J Papendorf, Charlotte de Konink, Wallid Deb, Virginie Vignard, Maja Studencka-Turski, Thomas Besnard, Anna M Hajdukowicz, Franziska G Thiel, Sophie Wolfgramm, Laëtitia Florenceau, Silvestre Cuinat, Sylvain Marsac, Yann Verrès, Audrey Dangoumau, Léa Poirier, Ingrid M Wentzensen, Annabelle Tuttle, Cara Forster, Johanna Striesow, Richard Golnik, Damara Ortiz, Laura Jenkins, Jill A Rosenfeld, Alban Ziegler, Clara Houdayer, Dominique Bonneau, Erin Torti, Amber Begtrup, Kristin G Monaghan, Sureni V Mullegama, Catharina M L Nienke Volker-Touw, Koen L I van Gassen, Renske Oegema, Mirjam S de Pagter, Katharina Steindl, Anita Rauch, Ivan Ivanovski, Kimberly McDonald, Emily Boothe, Andrew Dauber, Janice Baker, Noelle Andrea V Fabie, Raphael A Bernier, Tychele N Turner, Siddharth Srivastava, Kira A Dies, Lindsay C Swanson, Carrie Costin, Alali Abdulrazak, Rebekah K Jobling, John Pappas, Rachel Rabin, Dmitriy Niyazov, Anne Chun-Hui Tsai, Karen Kovak, David B Beck, May Christine V Malicdan, David R Adams, Lynne Wolfe, Rebecca D Ganetzky, Colleen C Muraresku, Davit Babikyan, Zdeněk Sedláček, Miroslava Hančárová, Andrew T Timberlake, Hind Al Saif, Berkley Nestler, Kayla King, M J Hajianpour, Gregory Costain, D'Arcy Prendergast, Chumei Li, David Geneviève, Antonio Vitobello, Arthur Sorlin, Christophe Philippe, Tamar Harel, Ori Toker, Ataf Sabir, Derek Lim, Mark J Hamilton, Lisa J Bryson, Elaine Cleary, Sacha Weber, Trevor L Hoffman, Anna M Cueto-González, Eduardo F Tizzano, David Gómez-Andrés, Marta Codina-Solà, Athina Ververi, Efterpi Pavlidou, Alexandros Lambropoulos, Kyriakos Garganis, Marlène Rio, Jonathan Levy, Sarah J Langas, Anne M McRae, Mathieu K Lessard, Maria Daniela D'Agostino, Isabelle De Bie, Meret Wegler, Rami Abou Jamra, Susanne B Kamphausen, Viktoria Bothe, Lorraine Potocki, Eric Olinger, Yves Sznajer, Elsa Wiame, Michelle L Thompson, Molly C Schroeder, Catherine Gooch, Raphael A Smith, Arti Pandya, Larissa M Busch, Uwe Völker, Elke Hammer, Kristian Wende, Benjamin Cogné, Bertrand Isidor, Jens Meiler, Clémentine Ripoll, Stéphanie Bigou, Frédéric Laumonnier, Peter W Hildebrand, Evan E Eichler, Kirsty McWalter, Peter M Krawitz, Florence Roux-Dalvai, Ype Elgersma, Julien Marcoux, Marie-Pierre Bousquet, Arnaud Droit, Jeremie Poschmann, Andreas M Grabrucker, Francois V Bolduc, Stéphane Bézieau, Frédéric Ebstein, Elke Krüger

  • Population-specific calibration and validation of an open-source bone age AI.

    Scientific reports

    Authors: Sebastian Rassmann, Luka Abashishvili, Elene Melikidze, Anastasia Sukhiashvili, Megi Lartsuliani, Ivane Chkhaidze, Nino Tskhvediani, Tinatin Gordeziani, Ekaterine Kvaratskhelia, Nino Kheladze, Maia Rekhviashvili, Salome Rodonaia, Natia Sukhitashvili, Nata Urushadze, Peter Krawitz, Tinatin Tkemaladze, Behnam Javanmardi

  • Pathogenic de novo variants in PPP2R5C cause a neurodevelopmental disorder within the Houge-Janssens syndrome spectrum.

    American journal of human genetics

    Authors: Iris Verbinnen, Sofia Douzgou Houge, Tzung-Chien Hsieh, Hellen Lesmann, Aron Kirchhoff, David Geneviève, Elise Brimble, Lisa Lenaerts, Dorien Haesen, Rebecca J Levy, Julien Thevenon, Laurence Faivre, Elysa Marco, Jessica X Chong, Mike Bamshad, Karynne Patterson, Ghayda M Mirzaa, Kimberly Foss, William Dobyns, Susan M White, Lynn Pais, Emily O'Heir, Raphaela Itzikowitz, Kirsten A Donald, Celia Van der Merwe, Alessandro Mussa, Raffaela Cervini, Elisa Giorgio, Tony Roscioli, Kerith-Rae Dias, Carey-Anne Evans, Natasha J Brown, Anna Ruiz, Juan Pablo Trujillo Quintero, Rachel Rabin, John Pappas, Hai Yuan, Katherine Lachlan, Simon Thomas, Anita Devlin, Michael Wright, Richard Martin, Joanna Karwowska, Renata Posmyk, Nicolas Chatron, Zornitza Stark, Oliver Heath, Martin Delatycki, Rebecca Buchert, Georg-Christoph Korenke, Keri Ramsey, Vinodh Narayanan, Dorothy K Grange, Judith L Weisenberg, Tobias B Haack, Stephanie Karch, Patricia Kipkemoi, Moses Mangi, Karen G C B Bindels de Heus, Marie-Claire Y de Wit, Tahsin Stefan Barakat, Derek Lim, Géraldine Van Winckel, Rebecca C Spillmann, Vandana Shashi, Maureen Jacob, Antonia M Stehr, Peter Krawitz, Gunnar Douzgos Houge, Veerle Janssens

  • Identification of novel proteomic biomarkers for hypertension: a targeted approach for precision medicine.

    Clinical proteomics

    Authors: Rana S Aldisi, Alsamman M Alsamman, Peter Krawitz, Carlo Maj, Hatem Zayed

  • GestaltGAN: synthetic photorealistic portraits of individuals with rare genetic disorders.

    European journal of human genetics : EJHG

    Authors: Aron Kirchhoff, Alexander Hustinx, Behnam Javanmardi, Tzung-Chien Hsieh, Fabian Brand, Fabio Hellmann, Silvan Mertes, Elisabeth André, Shahida Moosa, Thomas Schultz, Benjamin D Solomon, Peter Krawitz

  • Homozygous variant in translocase of outer mitochondrial membrane 7 leads to metabolic reprogramming and microcephalic osteodysplastic dwarfism with moyamoya disease.

    EBioMedicine

    Authors: Chia-Yi Li, Li-Wen Chen, Meng-Che Tsai, Yen-Yin Chou, Pei-Xuan Lin, Yu-Ming Chang, Wuh-Liang Hwu, Yin-Hsiu Chien, Ju-Li Lin, Hui-An Chen, Ni-Chung Lee, Pen-Hua Su, Tzung-Chien Hsieh, Hannah Klinkhammer, Yi-Chieh Wang, Yi-Ting Huang, Peter M Krawitz, Sheng-Hsiang Lin, Lynn L H Huang, Po-Min Chiang, Min-Hsiu Shih, Peng-Chieh Chen