Case report: Complex arterial findings in vascular ehlers-danlos syndrome with a novel COL3A1 variant and death at young age by Jacopo Taurino, Emanuele Micaglio, Annalisa Russo Raucci, Monica Zanussi, Massimo Chessa, Massimo Chessa, Nathasha Samali Udugampolage, Paola Carrera, Paola Carrera, Carlo Pappone, Carlo Pappone, Alessandro Pini

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Growth hormone deficiency and secondary adrenal insufficiency in petrified ears syndrome: a case report and literature review by Sebastiano Recalcati, Alberto Vassallo, Marta Villanova, Roberto Lanzi, Marco Losa, Maria Grazia Patricelli, Paola Carrera, Fabrizio Fantini

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Combined Presence in Heterozygosis of Two Variant Usher Syndrome Genes in Two Siblings Affected by Isolated Profound Age-Related Hearing Loss by Nica Borgese, Andrés Guillén-Samander, Sara Francesca Colombo, Giulia Mancassola, Federica Di Berardino, Diego Zanetti, Paola Carrera

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Behavioral Phenotype, Electroclinical Features, and Treatment Options in Twins with Lrp2 Candidate Variants (Donnay–Barrow/Foar Syndrome) by Alessia Mingarelli, Giovanni Battista Pipitone, Giacomo Torini, Maria Grazia Patricelli, Martina Totaro, Clara Colonna, Paola Carrera, Federico Raviglione

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Congenital solitary kidney in autosomal dominant polycystic kidney disease: Where do known genes end and the unknown begin? by Romina Bucci, Francesca Tunesi, Liliana Italia De Rosa, Paola Carrera, Giulia Mancassola, Martina Catania, Giuseppe Vezzoli, Maria Teresa Sciarrone Alibrandi

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Familial Clustering of Unexplained Transient Respiratory Distress in 12 Newborns from Three Unrelated Families Suggests an Autosomal-Recessive Inheritance by Andrea Guala, Paola Carrera, Guido Pastore, Marco Somaschini, Gina Ancora, Giacomo Faldella, Paolo De Filippi, Federica Ferrero, Roberta Guarino, Cesare Danesino

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Multifocal vitelliform lesions associated with mitochondrial retinopathy by Maurizio Battaglia Parodi, Alessio Antropoli, Lorenzo Bianco, Alessandro Arrigo, Sebastiano Del Fabbro, Paola Carrera, Ivana Spiga, Alessia Catania, Costanza Lamperti, Francesco Bandello, Ahmad Mansour

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Expanding the spectrum of neonatal‐onset AIFM1‐associated disorders by Alberto A. Zambon, Daniele Ghezzi, Cristina Baldoli, Gianni Cutillo, Katia Fontana, Valentina Sofia, Maria Grazia Patricelli, Alessia Nasca, Stefano Vinci, Ivana Spiga, Eleonora Lamantea, Giovanna F. Fanelli, Maria Grazia Natali Sora, Rosanna Rovelli, Antonella Poloniato, Paola Carrera, Massimo Filippi, Graziano Barera

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Supporting complexity: the psychologist’s role in multidisciplinary management of polycystic kidney disease by Sara Farinone, Martina Catania, Liliana Italia De Rosa, Kristiana Kola, Micaela Petrone, Matteo Brambilla Pisoni, Andrea Gigliotti, Pierpaolo Bianca, Paola Maiucchi, Lorena Citterio, Paola Carrera, Giulia Mancassola, Gaia Perego, Francesca Milano, Valentina Elisabetta Di Mattei, Paolo Manunta, Giuseppe Vezzoli, Maria Teresa Sciarrone Alibrandi

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Clinical and pathological findings in neurolymphomatosis: Preliminary association with gene expression profiles in sural nerves by Federica Cerri, Federica Cerri, Francesco Gentile, Francesco Gentile, Ferdinando Clarelli, Silvia Santoro, Yuri Matteo Falzone, Yuri Matteo Falzone, Giorgia Dina, Alessandro Romano, Teuta Domi, Laura Pozzi, Raffaella Fazio, Paola Podini, Melissa Sorosina, Paola Carrera, Federica Esposito, Federica Esposito, Nilo Riva, Nilo Riva, Chiara Briani, Tiziana Cavallaro, Massimo Filippi, Angelo Quattrini

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A novel GRN mutation in an Italian patient with non-fluent variant of primary progressive aphasia at onset: a longitudinal case report by Veronica Castelnovo, Elisa Canu, Teuta Domi, Laura Pozzi, Francesca Vignaroli, Edoardo Gioele Spinelli, Edoardo Gioele Spinelli, Edoardo Gioele Spinelli, Alma Ghirelli, Alma Ghirelli, Alma Ghirelli, Giacomo Tondo, Cristoforo Comi, Nilo Riva, Nilo Riva, Angelo Quattrini, Paola Carrera, Massimo Filippi, Massimo Filippi, Massimo Filippi, Massimo Filippi, Massimo Filippi, Federica Agosta, Federica Agosta, Federica Agosta

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<i>BRCA1/2</i> Molecular Assay for Ovarian Cancer Patients: A Survey through Italian Departments of Oncology and Molecular and Genomic Diagnostic Laboratories by Ettore Capoluongo, Nicla La Verde, Massimo Barberis, Maria Angela Bella, Fiamma Buttitta, Paola Carrera, Nicoletta Colombo, Laura Cortesi, Maurizio Genuardi, Massimo Gion, Valentina Guarneri, Domenica Lorusso, Antonio Marchetti, Paolo Marchetti, Nicola Normanno, Barbara Pasini, Matilde Pensabene, Sandro Pignata, Paolo Radice, Enrico Ricevuto, Anna Sapino, Pierosandro Tagliaferri, Pierfrancesco Tassone, Chiara Trevisiol, Mauro Truini, Liliana Varesco, Antonio Russo, Stefania Gori

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Distribution of the C9orf72 hexanucleotide repeat expansion in healthy subjects: a multicenter study promoted by the Italian IRCCS network of neuroscience and neurorehabilitation by Emiliano Giardina, Emiliano Giardina, Paola Mandich, Paola Mandich, Roberta Ghidoni, Nicola Ticozzi, Nicola Ticozzi, Giacomina Rossi, Chiara Fenoglio, Chiara Fenoglio, Francesco Danilo Tiziano, Francesco Danilo Tiziano, Federica Esposito, Federica Esposito, Sabina Capellari, Sabina Capellari, Benedetta Nacmias, Benedetta Nacmias, Rossana Mineri, Rosa Campopiano, Luana Di Pilla, Federica Sammarone, Stefania Zampatti, Cristina Peconi, Flavio De Angelis, Flavio De Angelis, Ilaria Palmieri, Caterina Galandra, Eleonora Nicodemo, Paola Origone, Paola Origone, Fabio Gotta, Clarissa Ponti, Clarissa Ponti, Roland Nicsanu, Luisa Benussi, Silvia Peverelli, Antonia Ratti, Antonia Ratti, Martina Ricci, Giuseppe Di Fede, Stefania Magri, Maria Serpente, Serena Lattante, Serena Lattante, Teuta Domi, Paola Carrera, Elisa Saltimbanco, Silvia Bagnoli, Silvia Bagnoli, Assunta Ingannato, Assunta Ingannato, Alberto Albanese, Fabrizio Tagliavini, Raffaele Lodi, Carlo Caltagirone, Stefano Gambardella, Stefano Gambardella, Enza Maria Valente, Enza Maria Valente, Vincenzo Silani, Vincenzo Silani

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Rare predicted loss-of-function variants of type I IFN immunity genes are associated with life-threatening COVID-19 by Daniela Matuozzo, Estelle Talouarn, Astrid Marchal, Peng Zhang, Jeremy Manry, Yoann Seeleuthner, Yu Zhang, Alexandre Bolze, Matthieu Chaldebas, Baptiste Milisavljevic, Adrian Gervais, Paul Bastard, Takaki Asano, Lucy Bizien, Federica Barzaghi, Hassan Abolhassani, Ahmad Abou Tayoun, Alessandro Aiuti, Ilad Alavi Darazam, Luis M. Allende, Rebeca Alonso-Arias, Andrés Augusto Arias, Gokhan Aytekin, Peter Bergman, Simone Bondesan, Yenan T. Bryceson, Ingrid G. Bustos, Oscar Cabrera-Marante, Sheila Carcel, Paola Carrera, Giorgio Casari, Khalil Chaïbi, Roger Colobran, Antonio Condino-Neto, Laura E. Covill, Ottavia M. Delmonte, Loubna El Zein, Carlos Flores, Peter K. Gregersen, Marta Gut, Filomeen Haerynck, Rabih Halwani, Selda Hancerli, Lennart Hammarström, Nevin Hatipoğlu, Adem Karbuz, Sevgi Keles, Christèle Kyheng, Rafael Leon-Lopez, Jose Luis Franco, Davood Mansouri, Javier Martinez-Picado, Ozge Metin Akcan, Isabelle Migeotte, Pierre-Emmanuel Morange, Guillaume Morelle, Andrea Martin-Nalda, Giuseppe Novelli, Antonio Novelli, Tayfun Ozcelik, Figen Palabiyik, Qiang Pan-Hammarström, Rebeca Pérez de Diego, Laura Planas-Serra, Daniel E. Pleguezuelo, Carolina Prando, Aurora Pujol, Luis Felipe Reyes, Jacques G. Rivière, Carlos Rodriguez-Gallego, Julian Rojas, Patrizia Rovere-Querini, Agatha Schlüter, Mohammad Shahrooei, Ali Sobh, Pere Soler-Palacin, Yacine Tandjaoui-Lambiotte, Imran Tipu, Cristina Tresoldi, Jesus Troya, Diederik van de Beek, Mayana Zatz, Pawel Zawadzki, Saleh Zaid Al-Muhsen, Mohammed Faraj Alosaimi, Fahad M. Alsohime, Hagit Baris-Feldman, Manish J. Butte, Stefan N. Constantinescu, Megan A. Cooper, Clifton L. Dalgard, Jacques Fellay, James R. Heath, Yu-Lung Lau, Richard P. Lifton, Tom Maniatis, Trine H. Mogensen, Horst von Bernuth, Alban Lermine, Michel Vidaud, Anne Boland, Jean-François Deleuze, Robert Nussbaum, Amanda Kahn-Kirby, France Mentre, Sarah Tubiana, Guy Gorochov, Florence Tubach, Pierre Hausfater, COVID Human Genetic Effort, COVIDeF Study Group, French COVID Cohort Study Group, CoV-Contact Cohort, COVID-STORM Clinicians, COVID Clinicians, Orchestra Working Group, Amsterdam UMC Covid-19 Biobank, NIAID-USUHS COVID Study Group, Isabelle Meyts, Shen-Ying Zhang, Anne Puel, Luigi D. Notarangelo, Stephanie Boisson-Dupuis, Helen C. Su, Bertrand Boisson, Emmanuelle Jouanguy, Jean-Laurent Casanova, Qian Zhang, Laurent Abel, Aurélie Cobat

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Correction: Rare predicted loss-of-function variants of type I IFN immunity genes are associated with life-threatening COVID-19 by Daniela Matuozzo, Estelle Talouarn, Astrid Marchal, Peng Zhang, Jeremy Manry, Yoann Seeleuthner, Yu Zhang, Alexandre Bolze, Matthieu Chaldebas, Baptiste Milisavljevic, Adrian Gervais, Paul Bastard, Takaki Asano, Lucy Bizien, Federica Barzaghi, Hassan Abolhassani, Ahmad Abou Tayoun, Alessandro Aiuti, Ilad Alavi Darazam, Luis M. Allende, Rebeca Alonso-Arias, Andrés Augusto Arias, Gokhan Aytekin, Peter Bergman, Simone Bondesan, Yenan T. Bryceson, Ingrid G. Bustos, Oscar Cabrera-Marante, Sheila Carcel, Paola Carrera, Giorgio Casari, Khalil Chaïbi, Roger Colobran, Antonio Condino-Neto, Laura E. Covill, Ottavia M. Delmonte, Loubna El Zein, Carlos Flores, Peter K. Gregersen, Marta Gut, Filomeen Haerynck, Rabih Halwani, Selda Hancerli, Lennart Hammarström, Nevin Hatipoğlu, Adem Karbuz, Sevgi Keles, Christèle Kyheng, Rafael Leon-Lopez, Jose Luis Franco, Davood Mansouri, Javier Martinez-Picado, Ozge Metin Akcan, Isabelle Migeotte, Pierre-Emmanuel Morange, Guillaume Morelle, Andrea Martin-Nalda, Giuseppe Novelli, Antonio Novelli, Tayfun Ozcelik, Figen Palabiyik, Qiang Pan-Hammarström, Rebeca Pérez de Diego, Laura Planas-Serra, Daniel E. Pleguezuelo, Carolina Prando, Aurora Pujol, Luis Felipe Reyes, Jacques G. Rivière, Carlos Rodriguez-Gallego, Julian Rojas, Patrizia Rovere-Querini, Agatha Schlüter, Mohammad Shahrooei, Ali Sobh, Pere Soler-Palacin, Yacine Tandjaoui-Lambiotte, Imran Tipu, Cristina Tresoldi, Jesus Troya, Diederik van de Beek, Mayana Zatz, Pawel Zawadzki, Saleh Zaid Al-Muhsen, Mohammed Faraj Alosaimi, Fahad M. Alsohime, Hagit Baris-Feldman, Manish J. Butte, Stefan N. Constantinescu, Megan A. Cooper, Clifton L. Dalgard, Jacques Fellay, James R. Heath, Yu-Lung Lau, Richard P. Lifton, Tom Maniatis, Trine H. Mogensen, Horst von Bernuth, Alban Lermine, Michel Vidaud, Anne Boland, Jean-François Deleuze, Robert Nussbaum, Amanda Kahn-Kirby, France Mentre, Sarah Tubiana, Guy Gorochov, Florence Tubach, Pierre Hausfater, COVID Human Genetic Effort, COVIDeF Study Group, French COVID Cohort Study Group, CoV-Contact Cohort, COVID Clinicians, Orchestra Working Group, Amsterdam UMC Covid-19 Biobank, NIAID-USUHS COVID Study Group, Isabelle Meyts, Shen-Ying Zhang, Anne Puel, Luigi D. Notarangelo, Stephanie Boisson-Dupuis, Helen C. Su, Bertrand Boisson, Emmanuelle Jouanguy, Jean-Laurent Casanova, Qian Zhang, Laurent Abel, Aurélie Cobat

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