Alport syndrome: a unified classification of genetic disorders of collagen IV α345: a position paper of the Alport Syndrome Classification Working Group von Kashtan, Clifford E., Ding, Jie, Garosi, Guido, Heidet, Laurence, Massella, Laura, Nakanishi, Koichi, Nozu, Kandai, Renieri, Alessandra, Rheault, Michelle, Wang, Fang, Gross, Oliver

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A glomerulus-on-a-chip to recapitulate the human glomerular filtration barrier von Petrosyan, Astgik, Cravedi, Paolo, Villani, Valentina, Angeletti, Andrea, Manrique, Joaquin, Renieri, Alessandra, De Filippo, Roger E., Perin, Laura, Da Sacco, Stefano

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TLRs: Innate Immune Sentries against SARS-CoV-2 Infection von Mantovani, Stefania, Oliviero, Barbara, Varchetta, Stefania, Renieri, Alessandra, Mondelli, Mario U

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Vitamin D and COVID-19 susceptibility and severity in the COVID-19 Host Genetics Initiative: A Mendelian randomization study von Butler-Laporte, Guillaume, Nakanishi, Tomoko, Mooser, Vincent, Morrison, David R., Abdullah, Tala, Adeleye, Olumide, Mamlouk, Noor, Kimchi, Nofar, Afrasiabi, Zaman, Rezk, Nardin, Giliberti, Annarita, Renieri, Alessandra, Chen, Yiheng, Zhou, Sirui, Forgetta, Vincenzo, Richards, J. Brent

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Rett syndrome: Revised diagnostic criteria and nomenclature von Jeffrey L. Neul, Kaufmann, Walter E., Glaze, Daniel G., Christodoulou, John, Clarke, Angus J., Bahi-Buisson, Nadia, Leonard, Helen, Bailey, Mark E. S., Schanen, N. Carolyn, Zappella, Michele, Renieri, Alessandra, Huppke, Peter, Percy, Alan K.

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New frontiers to cure Alport syndrome: COL4A3 and COL4A5 gene editing in podocyte-lineage cells von Daga, Sergio, Donati, Francesco, Capitani, Katia, Croci, Susanna, Tita, Rossella, Giliberti, Annarita, Valentino, Floriana, Benetti, Elisa, Fallerini, Chiara, Niccheri, Francesca, Baldassarri, Margherita, Mencarelli, Maria Antonietta, Frullanti, Elisa, Furini, Simone, Conticello, Silvestro Giovanni, Renieri, Alessandra, Pinto, Anna Maria

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Rare variants in Toll-like receptor 7 results in functional impairment and downregulation of cytokine-mediated signaling in COVID-19 patients von Mantovani, Stefania, Daga, Sergio, Fallerini, Chiara, Baldassarri, Margherita, Benetti, Elisa, Picchiotti, Nicola, Fava, Francesca, Gallì, Anna, Zibellini, Silvia, Bruttini, Mirella, Palmieri, Maria, Croci, Susanna, Amitrano, Sara, Alaverdian, Diana, Capitani, Katia, Furini, Simone, Mari, Francesca, Meloni, Ilaria, Frullanti, Elisa, Mondelli, Mario U., Renieri, Alessandra

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Imbalance of excitatory/inhibitory synaptic protein expression in iPSC-derived neurons from FOXG1(+/-) patients and in foxg1(+/-) mice von Patriarchi, Tommaso, Amabile, Sonia, Frullanti, Elisa, Landucci, Elisa, Lo Rizzo, Caterina, Ariani, Francesca, Costa, Mario, Olimpico, Francesco, W Hell, Johannes, M Vaccarino, Flora, Renieri, Alessandra, Meloni, Ilaria

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Consensus statement on standards and guidelines for the molecular diagnostics of Alport syndrome: refining the ACMG criteria von Savige, Judy, Storey, Helen, Watson, Elizabeth, Hertz, Jens Michael, Deltas, Constantinos, Renieri, Alessandra, Mari, Francesca, Hilbert, Pascale, Plevova, Pavlina, Byers, Peter, Cerkauskaite, Agne, Gregory, Martin, Cerkauskiene, Rimante, Ljubanovic, Danica Galesic, Becherucci, Francesca, Errichiello, Carmela, Massella, Laura, Aiello, Valeria, Lennon, Rachel, Hopkinson, Louise, Koziell, Ania, Lungu, Adrian, Rothe, Hansjorg Martin, Hoefele, Julia, Zacchia, Miriam, Martic, Tamara Nikuseva, Gupta, Asheeta, van Eerde, Albertien, Gear, Susie, Landini, Samuela, Palazzo, Viviana, Al-Rabadi, Laith, Claes, Kathleen, Corveleyn, Anniek, Van Hoof, Evelien, van Geel, Micheel, Williams, Maggie, Ashton, Emma, Belge, Hendica, Ars, Elisabeth, Bierzynska, Agnieszka, Gangemi, Concetta, Lipska-Zietkiewicz, Beata S.

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Solving patients with rare diseases through programmatic reanalysis of genome-phenome data von Matalonga, Leslie, Hernandez-Ferrer, Carles, Piscia, Davide, Schuele, Rebecca, Synofzik, Matthis, Topf, Ana, Vissers, Lisenka E. L. M., de Voer, Richarda, Tonda, Raul, Laurie, Steven, Fernandez-Callejo, Marcos, Pico, Daniel, Garcia-Linares, Carles, Papakonstantinou, Anastasios, Corvo, Alberto, Joshi, Ricky, Diez, Hector, Gut, Ivo, Hoischen, Alexander, Graessner, Holm, Beltran, Sergi

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Assessment of haptoglobin alleles in autism spectrum disorders von Cupaioli, Francesca Anna, Mosca, Ettore, Magri, Chiara, Gennarelli, Massimo, Moscatelli, Marco, Raggi, Maria Elisabetta, Landini, Martina, Galluccio, Nadia, Villa, Laura, Bonfanti, Arianna, Renieri, Alessandra, Fallerini, Chiara, Minelli, Alessandra, Marabotti, Anna, Milanesi, Luciano, Fasano, Alessio, Mezzelani, Alessandra

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17p13.3 microdeletion including YWHAE and CRK genes: towards a clinical characterization von Romano, Chiara, Ferranti, Silvia, Mencarelli, Maria Antonietta, Longo, Ilaria, Renieri, Alessandra, Grosso, Salvatore

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New Candidates for Autism/Intellectual Disability Identified by Whole-Exome Sequencing von Bruno, Lucia Pia, Doddato, Gabriella, Valentino, Floriana, Baldassarri, Margherita, Tita, Rossella, Fallerini, Chiara, Bruttini, Mirella, Lo Rizzo, Caterina, Mencarelli, Maria Antonietta, Mari, Francesca, Pinto, Anna Maria, Fava, Francesca, Fabbiani, Alessandra, Lamacchia, Vittoria, Carrer, Anna, Caputo, Valentina, Granata, Stefania, Benetti, Elisa, Zguro, Kristina, Furini, Simone, Renieri, Alessandra, Ariani, Francesca

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SLC12A2 variants cause a neurodevelopmental disorder or cochleovestibular defect von McNeill, Alisdair, Iovino, Emanuela, Mansard, Luke, Vache, Christel, Baux, David, Bedoukian, Emma, Cox, Helen, Dean, John, Goudie, David, Kumar, Ajith, Newbury-Ecob, Ruth, Fallerini, Chiara, Renieri, Alessandra, Lopergolo, Diego, Mari, Francesca, Blanchet, Catherine, Willems, Marjolaine, Roux, Anne-Francoise, Pippucci, Tommaso, Delpire, Eric

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Employing a systematic approach to biobanking and analyzing clinical and genetic data for advancing COVID-19 research von Daga, Sergio, Fallerini, Chiara, Baldassarri, Margherita, Fava, Francesca, Valentino, Floriana, Doddato, Gabriella, Benetti, Elisa, Furini, Simone, Giliberti, Annarita, Tita, Rossella, Amitrano, Sara, Bruttini, Mirella, Meloni, Ilaria, Pinto, Anna Maria, Raimondi, Francesco, Stella, Alessandra, Biscarini, Filippo, Picchiotti, Nicola, Gori, Marco, Pinoli, Pietro, Ceri, Stefano, Sanarico, Maurizio, Crawley, Francis P., Birolo, Giovanni, Montagnani, Francesca, Di Sarno, Laura, Tommasi, Andrea, Palmieri, Maria, Croci, Susanna, Emiliozzi, Arianna, Fabbiani, Massimiliano, Rossetti, Barbara, Zanelli, Giacomo, Bergantini, Laura, D'Alessandro, Miriana, Cameli, Paolo, Bennet, David, Anedda, Federico, Marcantonio, Simona, Scolletta, Sabino, Franchi, Federico, Mazzei, Maria Antonietta, Guerrini, Susanna, Conticini, Edoardo, Cantarini, Luca, Frediani, Bruno, Tacconi, Danilo, Spertilli, Chiara, Feri, Marco, Donati, Alice, Scala, Raffaele, Guidelli, Luca, Spargi, Genni, Corridi, Marta, Nencioni, Cesira, Croci, Leonardo, Caldarelli, Gian Piero, Spagnesi, Maurizio, Piacentini, Paolo, Bandini, Maria, Desanctis, Elena, Cappelli, Silvia, Canaccini, Anna, Verzuri, Agnese, Anemoli, Valentina, Ognibene, Agostino, Vaghi, Massimo, D'Arminio Monforte, Antonella, Merlini, Esther, Mondelli, Mario U., Mantovani, Stefania, Ludovisi, Serena, Girardis, Massimo, Venturelli, Sophie, Sita, Marco, Cossarizza, Andrea, Antinori, Andrea, Vergori, Alessandra, Rusconi, Stefano, Siano, Matteo, Gabrieli, Arianna, Riva, Agostino, Francisci, Daniela, Schiaroli, Elisabetta, Scotton, Pier Giorgio, Andretta, Francesca, Panese, Sandro, Scaggiante, Renzo, Gatti, Francesca, Parisi, Saverio Giuseppe, Castelli, Francesco, Quiros-Roldan, Maria Eugenia, Magro, Paola, Zanella, Isabella, Della Monica, Matteo, Piscopo, Carmelo, Capasso, Mario, Russo, Roberta, Andolfo, Immacolata, Iolascon, Achille

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COVID-19: a challenge and an opportunity von Renieri, Alessandra

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MET is a new confirmed gene responsible for familial distal arthrogryposis von Maffeo, Debora, Carrer, Anna, Rina, Angela, Adamo, Loredaria, Lo Rizzo, Caterina, Bruttini, Mirella, Renieri, Alessandra, Mari, Francesca

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Author Correction: Assessment of haptoglobin alleles in autism spectrum disorders von Cupaioli, Francesca Anna, Mosca, Ettore, Magri, Chiara, Gennarelli, Massimo, Moscatelli, Marco, Raggi, Maria Elisabetta, Landini, Martina, Galluccio, Nadia, Villa, Laura, Bonfanti, Arianna, Renieri, Alessandra, Fallerini, Chiara, Minelli, Alessandra, Marabotti, Anna, Milanesi, Luciano, Fasano, Alessio, Mezzelani, Alessandra

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The effect of angiotensin-converting enzyme levels on COVID-19 susceptibility and severity: a Mendelian randomization study von Butler-Laporte, Guillaume, Nakanishi, Tomoko, Mooser, Vincent, Renieri, Alessandra, Amitrano, Sara, Zhou, Sirui, Chen, Yiheng, Forgetta, Vincenzo, Richards, J Brent

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The 2019 and 2021 International Workshops on Alport Syndrome von Daga, Sergio, Ding, Jie, Deltas, Constantinos, Savige, Judy, Lipska-Ziętkiewicz, Beata S, Hoefele, Julia, Flinter, Frances, Gale, Daniel P, Aksenova, Marina, Kai, Hirofumi, Perin, Laura, Barua, Moumita, Torra, Roser, Miner, Jeff H, Massella, Laura, Ljubanović, Danica Galešić, Lennon, Rachel, Weinstock, Andrè B, Knebelmann, Bertrand, Cerkauskaite, Agne, Gear, Susie, Gross, Oliver, Turner, A Neil, Baldassarri, Margherita, Pinto, Anna Maria, Renieri, Alessandra

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