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  • Predicting the pathogenicity of missense variants using features derived from AlphaFold2.

    Bioinformatics (Oxford, England)

    Authors: Axel Schmidt, Sebastian Röner, Karola Mai, Hannah Klinkhammer, Martin Kircher, Kerstin U Ludwig

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  • Analysis of candidate genes for cleft lip ± cleft palate using murine single-cell expression data.

    Frontiers in cell and developmental biology

    Authors: Anna Siewert, Benedikt Reiz, Carina Krug, Julia Heggemann, Elisabeth Mangold, Henning Dickten, Kerstin U Ludwig

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  • Identification of de novo variants in nonsyndromic cleft lip with/without cleft palate patients with low polygenic risk scores.

    Molecular genetics & genomic medicine

    Authors: Nina Ishorst, Leonie Henschel, Frederic Thieme, Dmitriy Drichel, Sugirthan Sivalingam, Sarah L Mehrem, Ariane C Fechtner, Julia Fazaal, Julia Welzenbach, André Heimbach, Carlo Maj, Oleg Borisov, Jonas Hausen, Ruth Raff, Alexander Hoischen, Michael Dixon, Alvaro Rada-Iglesias, Michaela Bartusel, Augusto Rojas-Martinez, Khalid Aldhorae, Bert Braumann, Teresa Kruse, Christian Kirschneck, Gerrit Spanier, Heiko Reutter, Stefanie Nowak, Lina Gölz, Michael Knapp, Andreas Buness, Peter Krawitz, Markus M Nöthen, Michael Nothnagel, Tim Becker, Kerstin U Ludwig, Elisabeth Mangold

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  • Prioritization of non-coding elements involved in non-syndromic cleft lip with/without cleft palate through genome-wide analysis of mutations.

    HGG advances

    Authors: Hanna K Zieger, Leonie Weinhold, Axel Schmidt, Manuel Holtgrewe, Stefan A Juranek, Anna Siewert, Annika B Scheer, Frederic Thieme, Elisabeth Mangold, Nina Ishorst, Fabian U Brand, Julia Welzenbach, Dieter Beule, Katrin Paeschke, Peter M Krawitz, Kerstin U Ludwig

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  • Systematic assays and resources for the functional annotation of non-coding variants.

    Medizinische Genetik : Mitteilungsblatt des Berufsverbandes Medizinische Genetik e.V

    Authors: Martin Kircher, Kerstin U Ludwig

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  • Detailed stratified GWAS analysis for severe COVID-19 in four European populations.

    Human molecular genetics

    Authors: Frauke Degenhardt, David Ellinghaus, Simonas Juzenas, Jon Lerga-Jaso, Mareike Wendorff, Douglas Maya-Miles, Florian Uellendahl-Werth, Hesham ElAbd, Malte C Rühlemann, Jatin Arora, Onur Özer, Ole Bernt Lenning, Ronny Myhre, May Sissel Vadla, Eike M Wacker, Lars Wienbrandt, Aaron Blandino Ortiz, Adolfo de Salazar, Adolfo Garrido Chercoles, Adriana Palom, Agustín Ruiz, Alba-Estela Garcia-Fernandez, Albert Blanco-Grau, Alberto Mantovani, Alberto Zanella, Aleksander Rygh Holten, Alena Mayer, Alessandra Bandera, Alessandro Cherubini, Alessandro Protti, Alessio Aghemo, Alessio Gerussi, Alfredo Ramirez, Alice Braun, Almut Nebel, Ana Barreira, Ana Lleo, Ana Teles, Anders Benjamin Kildal, Andrea Biondi, Andrea Caballero-Garralda, Andrea Ganna, Andrea Gori, Andreas Glück, Andreas Lind, Anja Tanck, Anke Hinney, Anna Carreras Nolla, Anna Ludovica Fracanzani, Anna Peschuck, Annalisa Cavallero, Anne Ma Dyrhol-Riise, Antonella Ruello, Antonio Julià, Antonio Muscatello, Antonio Pesenti, Antonio Voza, Ariadna Rando-Segura, Aurora Solier, Axel Schmidt, Beatriz Cortes, Beatriz Mateos, Beatriz Nafria-Jimenez, Benedikt Schaefer, Björn Jensen, Carla Bellinghausen, Carlo Maj, Carlos Ferrando, Carmen de la Horra, Carmen Quereda, Carsten Skurk, Charlotte Thibeault, Chiara Scollo, Christian Herr, Christoph D Spinner, Christoph Gassner, Christoph Lange, Cinzia Hu, Cinzia Paccapelo, Clara Lehmann, Claudio Angelini, Claudio Cappadona, Clinton Azuure, Cristiana Bianco, Cristina Cea, Cristina Sancho, Dag Arne Lihaug Hoff, Daniela Galimberti, Daniele Prati, David Haschka, David Jiménez, David Pestaña, David Toapanta, Eduardo Muñiz-Diaz, Elena Azzolini, Elena Sandoval, Eleonora Binatti, Elio Scarpini, Elisa T Helbig, Elisabetta Casalone, Eloisa Urrechaga, Elvezia Maria Paraboschi, Emanuele Pontali, Enric Reverter, Enrique J Calderón, Enrique Navas, Erik Solligård, Ernesto Contro, Eunate Arana-Arri, Fátima Aziz, Federico Garcia, Félix García Sánchez, Ferruccio Ceriotti, Filippo Martinelli-Boneschi, Flora Peyvandi, Florian Kurth, Francesco Blasi, Francesco Malvestiti, Francisco J Medrano, Francisco Mesonero, Francisco Rodriguez-Frias, Frank Hanses, Fredrik Müller, Georg Hemmrich-Stanisak, Giacomo Bellani, Giacomo Grasselli, Gianni Pezzoli, Giorgio Costantino, Giovanni Albano, Giulia Cardamone, Giuseppe Bellelli, Giuseppe Citerio, Giuseppe Foti, Giuseppe Lamorte, Giuseppe Matullo, Guido Baselli, Hayato Kurihara, Holger Neb, Ilaria My, Ingo Kurth, Isabel Hernández, Isabell Pink, Itziar de Rojas, Iván Galván-Femenia, Jan Cato Holter, Jan Egil Afset, Jan Heyckendorf, Jan Kässens, Jan Kristian Damås, Jan Rybniker, Janine Altmüller, Javier Ampuero, Javier Martín, Jeanette Erdmann, Jesus M Banales, Joan Ramon Badia, Joaquin Dopazo, Jochen Schneider, Jonas Bergan, Jordi Barretina, Jörn Walter, Jose Hernández Quero, Josune Goikoetxea, Juan Delgado, Juan M Guerrero, Julia Fazaal, Julia Kraft, Julia Schröder, Kari Risnes, Karina Banasik, Karl Erik Müller, Karoline I Gaede, Koldo Garcia-Etxebarria, Kristian Tonby, Lars Heggelund, Laura Izquierdo-Sanchez, Laura Rachele Bettini, Lauro Sumoy, Leif Erik Sander, Lena J Lippert, Leonardo Terranova, Lindokuhle Nkambule, Lisa Knopp, Lise Tuset Gustad, Lucia Garbarino, Luigi Santoro, Luis Téllez, Luisa Roade, Mahnoosh Ostadreza, Maider Intxausti, Manolis Kogevinas, Mar Riveiro-Barciela, Marc M Berger, Marco Schaefer, Mari E K Niemi, María A Gutiérrez-Stampa, Maria Carrabba, Maria E Figuera Basso, Maria Grazia Valsecchi, María Hernandez-Tejero, Maria J G T Vehreschild, Maria Manunta, Marialbert Acosta-Herrera, Mariella D'Angiò, Marina Baldini, Marina Cazzaniga, Marit M Grimsrud, Markus Cornberg, Markus M Nöthen, Marta Marquié, Massimo Castoldi, Mattia Cordioli, Maurizio Cecconi, Mauro D'Amato, Max Augustin, Melissa Tomasi, Mercè Boada, Michael Dreher, Michael J Seilmaier, Michael Joannidis, Michael Wittig, Michela Mazzocco, Michele Ciccarelli, Miguel Rodríguez-Gandía, Monica Bocciolone, Monica Miozzo, Natale Imaz Ayo, Natalia Blay, Natalia Chueca, Nicola Montano, Nicole Braun, Nicole Ludwig, Nikolaus Marx, Nilda Martínez, Oliver A Cornely, Oliver Witzke, Orazio Palmieri, Paola Faverio, Paoletta Preatoni, Paolo Bonfanti, Paolo Omodei, Paolo Tentorio, Pedro Castro, Pedro M Rodrigues, Pedro Pablo España, Per Hoffmann, Philip Rosenstiel, Philipp Schommers, Phillip Suwalski, Raúl de Pablo, Ricard Ferrer, Robert Bals, Roberta Gualtierotti, Rocío Gallego-Durán, Rosa Nieto, Rossana Carpani, Rubén Morilla, Salvatore Badalamenti, Sammra Haider, Sandra Ciesek, Sandra May, Sara Bombace, Sara Marsal, Sara Pigazzini, Sebastian Klein, Serena Pelusi, Sibylle Wilfling, Silvano Bosari, Sonja Volland, Søren Brunak, Soumya Raychaudhuri, Stefan Schreiber, Stefanie Heilmann-Heimbach, Stefano Aliberti, Stephan Ripke, Susanne Dudman, Tanja Wesse, Tenghao Zheng, Thomas Bahmer, Thomas Eggermann, Thomas Illig, Thorsten Brenner, Tomas Pumarola, Torsten Feldt, Trine Folseraas, Trinidad Gonzalez Cejudo, Ulf Landmesser, Ulrike Protzer, Ute Hehr, Valeria Rimoldi, Valter Monzani, Vegard Skogen, Verena Keitel, Verena Kopfnagel, Vicente Friaza, Victor Andrade, Victor Moreno, Wolfgang Albrecht, Wolfgang Peter, Wolfgang Poller, Xavier Farre, Xiaoli Yi, Xiaomin Wang, Yascha Khodamoradi, Zehra Karadeniz, Anna Latiano, Siegfried Goerg, Petra Bacher, Philipp Koehler, Florian Tran, Heinz Zoller, Eva C Schulte, Bettina Heidecker, Kerstin U Ludwig, Javier Fernández, Manuel Romero-Gómez, Agustín Albillos, Pietro Invernizzi, Maria Buti, Stefano Duga, Luis Bujanda, Johannes R Hov, Tobias L Lenz, Rosanna Asselta, Rafael de Cid, Luca Valenti, Tom H Karlsen, Mario Cáceres, Andre Franke

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  • Novel genes and sex differences in COVID-19 severity.

    Human molecular genetics

    Authors: Raquel Cruz, Silvia Diz-de Almeida, Miguel López de Heredia, Inés Quintela, Francisco C Ceballos, Guillermo Pita, José M Lorenzo-Salazar, Rafaela González-Montelongo, Manuela Gago-Domínguez, Marta Sevilla Porras, Jair Antonio Tenorio Castaño, Julian Nevado, Jose María Aguado, Carlos Aguilar, Sergio Aguilera-Albesa, Virginia Almadana, Berta Almoguera, Nuria Alvarez, Álvaro Andreu-Bernabeu, Eunate Arana-Arri, Celso Arango, María J Arranz, Maria-Jesus Artiga, Raúl C Baptista-Rosas, María Barreda-Sánchez, Moncef Belhassen-Garcia, Joao F Bezerra, Marcos A C Bezerra, Lucía Boix-Palop, María Brion, Ramón Brugada, Matilde Bustos, Enrique J Calderón, Cristina Carbonell, Luis Castano, Jose E Castelao, Rosa Conde-Vicente, M Lourdes Cordero-Lorenzana, Jose L Cortes-Sanchez, Marta Corton, M Teresa Darnaude, Alba De Martino-Rodríguez, Victor Del Campo-Pérez, Aranzazu Diaz de Bustamante, Elena Domínguez-Garrido, Andre D Luchessi, Rocío Eiros, Gladys Mercedes Estigarribia Sanabria, María Carmen Fariñas, Uxía Fernández-Robelo, Amanda Fernández-Rodríguez, Tania Fernández-Villa, Belén Gil-Fournier, Javier Gómez-Arrue, Beatriz González Álvarez, Fernan Gonzalez Bernaldo de Quirós, Javier González-Peñas, Juan F Gutiérrez-Bautista, María José Herrero, Antonio Herrero-Gonzalez, María A Jimenez-Sousa, María Claudia Lattig, Anabel Liger Borja, Rosario Lopez-Rodriguez, Esther Mancebo, Caridad Martín-López, Vicente Martín, Oscar Martinez-Nieto, Iciar Martinez-Lopez, Michel F Martinez-Resendez, Angel Martinez-Perez, Juliana F Mazzeu, Eleuterio Merayo Macías, Pablo Minguez, Victor Moreno Cuerda, Vivian N Silbiger, Silviene F Oliveira, Eva Ortega-Paino, Mara Parellada, Estela Paz-Artal, Ney P C Santos, Patricia Pérez-Matute, Patricia Perez, M Elena Pérez-Tomás, Teresa Perucho, Mel Lina Pinsach-Abuin, Ericka N Pompa-Mera, Gloria L Porras-Hurtado, Aurora Pujol, Soraya Ramiro León, Salvador Resino, Marianne R Fernandes, Emilio Rodríguez-Ruiz, Fernando Rodriguez-Artalejo, José A Rodriguez-Garcia, Francisco Ruiz Cabello, Javier Ruiz-Hornillos, Pablo Ryan, José Manuel Soria, Juan Carlos Souto, Eduardo Tamayo, Alvaro Tamayo-Velasco, Juan Carlos Taracido-Fernandez, Alejandro Teper, Lilian Torres-Tobar, Miguel Urioste, Juan Valencia-Ramos, Zuleima Yáñez, Ruth Zarate, Tomoko Nakanishi, Sara Pigazzini, Frauke Degenhardt, Guillaume Butler-Laporte, Douglas Maya-Miles, Luis Bujanda, Youssef Bouysran, Adriana Palom, David Ellinghaus, Manuel Martínez-Bueno, Selina Rolker, Sara Amitrano, Luisa Roade, Francesca Fava, Christoph D Spinner, Daniele Prati, David Bernardo, Federico Garcia, Gilles Darcis, Israel Fernández-Cadenas, Jan Cato Holter, Jesus M Banales, Robert Frithiof, Stefano Duga, Rosanna Asselta, Alexandre C Pereira, Manuel Romero-Gómez, Beatriz Nafría-Jiménez, Johannes R Hov, Isabelle Migeotte, Alessandra Renieri, Anna M Planas, Kerstin U Ludwig, Maria Buti, Souad Rahmouni, Marta E Alarcón-Riquelme, Eva C Schulte, Andre Franke, Tom H Karlsen, Luca Valenti, Hugo Zeberg, Brent Richards, Andrea Ganna, Mercè Boada, Itziar de Rojas, Agustín Ruiz, Pascual Sánchez-Juan, Luis Miguel Real, Encarna Guillen-Navarro, Carmen Ayuso, Anna González-Neira, José A Riancho, Augusto Rojas-Martinez, Carlos Flores, Pablo Lapunzina, Angel Carracedo

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  • A genome-wide association study with tissue transcriptomics identifies genetic drivers for classic bladder exstrophy.

    Communications biology

    Authors: Enrico Mingardo, Glenda Beaman, Philip Grote, Agneta Nordenskjöld, William Newman, Adrian S Woolf, Markus Eckstein, Alina C Hilger, Gabriel C Dworschak, Wolfgang Rösch, Anne-Karolin Ebert, Raimund Stein, Alfredo Brusco, Massimo Di Grazia, Ali Tamer, Federico M Torres, Jose L Hernandez, Philipp Erben, Carlo Maj, Jose M Olmos, Jose A Riancho, Carmen Valero, Isabel C Hostettler, Henry Houlden, David J Werring, Johannes Schumacher, Jan Gehlen, Ann-Sophie Giel, Benedikt C Buerfent, Samara Arkani, Elisabeth Åkesson, Emilia Rotstein, Michael Ludwig, Gundela Holmdahl, Elisa Giorgio, Alfredo Berettini, David Keene, Raimondo M Cervellione, Nina Younsi, Melissa Ortlieb, Josef Oswald, Bernhard Haid, Martin Promm, Claudia Neissner, Karin Hirsch, Maximilian Stehr, Frank-Mattias Schäfer, Eberhard Schmiedeke, Thomas M Boemers, Iris A L M van Rooij, Wouter F J Feitz, Carlo L M Marcelis, Martin Lacher, Jana Nelson, Benno Ure, Caroline Fortmann, Daniel P Gale, Melanie M Y Chan, Kerstin U Ludwig, Markus M Nöthen, Stefanie Heilmann, Nadine Zwink, Ekkehart Jenetzky, Benjamin Odermatt, Michael Knapp, Heiko Reutter

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  • Exome-wide association study to identify rare variants influencing COVID-19 outcomes: Results from the Host Genetics Initiative.

    PLoS genetics

    Authors: Guillaume Butler-Laporte, Gundula Povysil, Jack A Kosmicki, Elizabeth T Cirulli, Theodore Drivas, Simone Furini, Chadi Saad, Axel Schmidt, Pawel Olszewski, Urszula Korotko, Mathieu Quinodoz, Elifnaz Çelik, Kousik Kundu, Klaudia Walter, Junghyun Jung, Amy D Stockwell, Laura G Sloofman, Daniel M Jordan, Ryan C Thompson, Diane Del Valle, Nicole Simons, Esther Cheng, Robert Sebra, Eric E Schadt, Seunghee Kim-Schulze, Sacha Gnjatic, Miriam Merad, Joseph D Buxbaum, Noam D Beckmann, Alexander W Charney, Bartlomiej Przychodzen, Timothy Chang, Tess D Pottinger, Ning Shang, Fabian Brand, Francesca Fava, Francesca Mari, Karolina Chwialkowska, Magdalena Niemira, Szymon Pula, J Kenneth Baillie, Alex Stuckey, Antonio Salas, Xabier Bello, Jacobo Pardo-Seco, Alberto Gómez-Carballa, Irene Rivero-Calle, Federico Martinón-Torres, Andrea Ganna, Konrad J Karczewski, Kumar Veerapen, Mathieu Bourgey, Guillaume Bourque, Robert Jm Eveleigh, Vincenzo Forgetta, David Morrison, David Langlais, Mark Lathrop, Vincent Mooser, Tomoko Nakanishi, Robert Frithiof, Michael Hultström, Miklos Lipcsey, Yanara Marincevic-Zuniga, Jessica Nordlund, Kelly M Schiabor Barrett, William Lee, Alexandre Bolze, Simon White, Stephen Riffle, Francisco Tanudjaja, Efren Sandoval, Iva Neveux, Shaun Dabe, Nicolas Casadei, Susanne Motameny, Manal Alaamery, Salam Massadeh, Nora Aljawini, Mansour S Almutairi, Yaseen M Arabi, Saleh A Alqahtani, Fawz S Al Harthi, Amal Almutairi, Fatima Alqubaishi, Sarah Alotaibi, Albandari Binowayn, Ebtehal A Alsolm, Hadeel El Bardisy, Mohammad Fawzy, Fang Cai, Nicole Soranzo, Adam Butterworth, Daniel H Geschwind, Stephanie Arteaga, Alexis Stephens, Manish J Butte, Paul C Boutros, Takafumi N Yamaguchi, Shu Tao, Stefan Eng, Timothy Sanders, Paul J Tung, Michael E Broudy, Yu Pan, Alfredo Gonzalez, Nikhil Chavan, Ruth Johnson, Bogdan Pasaniuc, Brian Yaspan, Sandra Smieszek, Carlo Rivolta, Stephanie Bibert, Pierre-Yves Bochud, Maciej Dabrowski, Pawel Zawadzki, Mateusz Sypniewski, Elżbieta Kaja, Pajaree Chariyavilaskul, Voraphoj Nilaratanakul, Nattiya Hirankarn, Vorasuk Shotelersuk, Monnat Pongpanich, Chureerat Phokaew, Wanna Chetruengchai, Katsushi Tokunaga, Masaya Sugiyama, Yosuke Kawai, Takanori Hasegawa, Tatsuhiko Naito, Ho Namkoong, Ryuya Edahiro, Akinori Kimura, Seishi Ogawa, Takanori Kanai, Koichi Fukunaga, Yukinori Okada, Seiya Imoto, Satoru Miyano, Serghei Mangul, Malak S Abedalthagafi, Hugo Zeberg, Joseph J Grzymski, Nicole L Washington, Stephan Ossowski, Kerstin U Ludwig, Eva C Schulte, Olaf Riess, Marcin Moniuszko, Miroslaw Kwasniewski, Hamdi Mbarek, Said I Ismail, Anurag Verma, David B Goldstein, Krzysztof Kiryluk, Alessandra Renieri, Manuel A R Ferreira, J Brent Richards

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  • Molecular Genetic Screening in Patients With ACE Inhibitor/Angiotensin Receptor Blocker-Induced Angioedema to Explore the Role of Hereditary Angioedema Genes.

    Frontiers in genetics

    Authors: Carina M Mathey, Carlo Maj, Annika B Scheer, Julia Fazaal, Bettina Wedi, Dorothea Wieczorek, Philipp M Amann, Harald Löffler, Lukas Koch, Clemens Schöffl, Heinrich Dickel, Nomun Ganjuur, Thorsten Hornung, Susann Forkel, Jens Greve, Gerda Wurpts, Pär Hallberg, Anette Bygum, Christian Von Buchwald, Malgorzata Karawajczyk, Michael Steffens, Julia Stingl, Per Hoffmann, Stefanie Heilmann-Heimbach, Elisabeth Mangold, Kerstin U Ludwig, Eva R Rasmussen, Mia Wadelius, Bernhardt Sachs, Markus M Nöthen, Andreas J Forstner

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