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  • Recurrent MBTPS2 variant c.970+5G>A in IFAP syndrome: a mutational hotspot.

    Human genome variation

    Authors: Sheetal Kumar, Sohail Ahmed, Pietro Incardona, Nicole Cesarato, Yue Zhang, Monica Ines Natale, Muhammad Javed Khan, Laura Valinotto, Kifayat Ullah, Wasim Ahmad, Ines Irurzun, Peter M Krawitz, Bo Liang, Regina C Betz

  • Neurodevelopmental Disorder with Dystonia and Chorea Linked to De Novo Variants in the Splicing Regulator SRRM4.

    Movement disorders : official journal of the Movement Disorder Society

    Authors: Philip Harrer, Volker Kittke, Alice Saparov, Alexej Knaus, Shimriet Zeidler, Rachel Schot, Florian Kraft, Matthias Begemann, Suzanna Koudijs, Ugo Sorrentino, Chen Zhao, Ivana Dzinovic, Martin Pavlov, Elisabeth Graf, Antonia M Stehr, Peter M Krawitz, Christian Wilhelm, Saskia Biskup, Fahd Alsalloum, Steffen Berweck, Juliane Winkelmann, Konrad Oexle, Ingo Kurth, G Christoph Korenke, Michael Zech

  • Bi-allelic WDHD1 variants cause microcephalic primordial dwarfism.

    American journal of human genetics

    Authors: Debora Tibbe, Marie Ronja Vogt, Tess Holling, Lea Dewi Schlieben, Fanny Kortüm, Moneef Shoukier, Christoph Bagowski, Felix Distelmaier, Luisa Averdunk, Alexej Knaus, Peter Krawitz, Alma Kuechler, Elke Lainka, Amelie Stalke, Sandra von Hardenberg, Bernd Auber, Eva-Doreen Pfister, Bruno Reversade, Anthony Sabbagh, Aida M Bertoli-Avella, Salem Alawbathani, Elizabeth E Palmer, Manisha Chauhan, Rocio Rius, Yoonji Kim, Dzhoy Papingi, Deborah Bartholdi, Dominique Braun, Oliver Maier, April Dinwiddie, Elisabeth Steichen-Gersdorf, Andreas R Janecke, Anatoly Tiulpakov, Nikolay Zernov, Maria Izabel Arismendi, Alexander A L Jorge, Himanshu Goel, Lauren Dreyer, Lily Loughman, Holger Prokisch, Kerstin Borgmann, Kerstin Kutsche

  • Biallelic variants in the noncoding RNA gene RNU4-2 cause a recessive neurodevelopmental syndrome with distinct white matter changes.

    Nature genetics

    Authors: Rocio Rius, Alexander J M Blakes, Yuyang Chen, Joachim De Jonghe, François Lecoquierre, Ruebena Dawes, Benjamin Cogne, Hyung Chul Kim, Javeria R Alvi, Florence Amblard, Morad Ansari, Annabelle Arlt, Christina Austin-Tse, Sarah Baer, Meena Balasubramanian, Elsa V Balton, Giulia Barcia, Ana Beleza-Meireles, Jonathan A Bernstein, Jasmin Beygo, Pierre Blanc, Nuria C Bramswig, Frederik Braun, Daniel Buchzik, Daniel G Calame, Jamie Campbell, Charles Coutton, Chloe A Cunningham, Nitsuh Dargie, Christel Depienne, Katrina M Dipple, Anne Dieux, Abhijit Dixit, Lauren Dreyer, Haowei Du, Salima El Chehadeh, Michael Field, Lisa J Ewans, Vanessa Geiger, Richard A Gibbs, Ian Glass, Olivier Grunewald, Paul Gueguen, Tobias B Haack, Hamza Hadj Abdallah, Radu Harbuz, Ingo Helbig, Judit Horvath, Alexander Hustinx, Bertrand Isidor, Marie-Line Jacquemont, Fraser Jamie, Médéric Jeanne, Riley Kessler, Hannah Klinkhammer, G Christoph Korenke, Urania Kotzaeridou, Peter Krawitz, Steven Laurie, Richard J Leventer, Rebecca J Levy, James R Lupski, Pierre Marijon, Kaitlin E McGinnis, Rodrigo Mendez, Olfa Messaoud, Caroline Nava, Mevyn Nizard, Anne O'Donnell-Luria, Melanie C O'Leary, Simone Olivieri, Amitav Parida, Davut Pehlivan, Anna Jenne Prentice, Jennifer E Posey, Chloe M Reuter, Véronique Satre, Caroline Schluth-Bolard, Thomas Smol, Tipu Sultan, John Taylor, Christel Thauvin-Robinetvin, Julien Thevenon, Eloise Uebergang, Sandra Ueberberg, Catherine Vincent-Delorme, Evangeline Wassmer, Emma Westwood, Matthew T Wheeler, Elif Yilmaz Gulec, Adeline Vanderver, Arastoo Vossough, Stephan J Sanders, Siddharth Banka, Gregory M Findlay, Daniel G MacArthur, Cas Simons, Nicola Whiffin

  • Investigations on transferability of polygenic risk scores depending on demography and dominance coefficients.

    HGG advances

    Authors: Leonie Fohler, Edita Latifi, Andreas Mayr, Carlo Maj, Christian Staerk, Hannah Klinkhammer, Peter M Krawitz

  • DNA methylation signature and clinical delineation of PACS1-related disorder in 24 unreported individuals.

    European journal of human genetics : EJHG

    Authors: Quentin Sabbagh, Camille Cenni, Sadegheh Haghshenas, Jean-Luc Alessandri, Mads Bak, Allan Bayat, Mouna Barat-Houari, Alfredo Brusco, Tiffany Busa, Anaïs Calaya, Paige Calvert, Valérie Cormier-Daire, Christine Coubes, Yannis Duffourd, Giovanni B Ferrero, Anne Guimier, Damien Haye, Tina Duelund Hjortshøj, Laetitia Lambert, Karen Bonde Larsen, Carolyn Lauzon-Young, Gaetan Lesca, Nicolas Chatron, Michael A Levy, Diego Lopergolo, Henri Margot, Haley McConkey, Pauline Monin, Godelieve Morel, Sophie Naudion, Mathilde Nizon, Sylvie Odent, Lucile Pinson, Linda Pons, Audrey Putoux, Marlène Rio, Massimiliano Rossi, Lucie Rouaux, Flavien Rouxel, Nathalie Ruiz-Pallares, Elodie Sanchez, Stefano Pagano, Filippo M Santorelli, Clément Sauvestre, Jennifer C Schymick, Victoria Mok Siu, Marta Spodenkiewicz, Matthew Tedder, Mylène Tharreau, Frédéric Tran Mau-Them, Zeynep Tümer, Irene Valenzuela, Julien Van Gils, Marjolaine Willems, Aron Kirchhoff, Peter Krawitz, Jennifer Kerkhof, Janneke H M Schuurs-Hoeijmakers, Bekim Sadikovic, David Geneviève

  • 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