Genetic variants determine intrafamilial variability of SARS-CoV-2 clinical outcomes in 19 Italian families von Alessia Azzarà, Ilaria Cassano, Elisa Paccagnella, Maria Cristina Tirindelli, Carolina Nobile, Valentina Schittone, Carla Lintas, Roberto Sacco, Fiorella Gurrieri

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Genetic variants determine intrafamilial variability of SARS-CoV-2 clinical outcomes in 19 Italian families von Azzarà, Alessia, Cassano, Ilaria, Paccagnella, Elisa, Tirindelli, Maria Cristina, Nobile, Carolina, Schittone, Valentina, Lintas, Carla, Sacco, Roberto, Gurrieri, Fiorella

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Exome Profiling Suggests Combined Effect of Myeloperoxidase, Toll-Like Receptors, and Metallopeptidase in Hidradenitis Suppurativa von Azzarà, Alessia, Cassano, Ilaria, Lintas, Carla, Gurrieri, Fiorella

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A pathogenic variant in the FLCN gene presenting with pure dementia: is autophagy at the intersection between neurodegeneration and cancer? von Bottillo, Irene, Laino, Luigi, Azzarà, Alessia, Lintas, Carla, Cassano, Ilaria, Di Lazzaro, Vincenzo, Ursini, Francesca, Motolese, Francesco, Bargiacchi, Simone, Formicola, Daniela, Grammatico, Paola, Gurrieri, Fiorella

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Genetic Characterization in Familial Rotator Cuff Tear: An Exome Sequencing Study von Azzarà, Alessia, Risi Ambrogioni, Laura, Cassano, Ilaria, Lintas, Carla, Longo, Umile Giuseppe, Denaro, Vincenzo, Gurrieri, Fiorella

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The Spritztube: A New Device for the Extraglottic Intubation of Rabbits von Lambertini, Carlotta, Grandis, Annamaria, De Silva, Margherita, Cassano, Ilaria Anna, Checcacci Carboni, Stefano, Romagnoli, Noemi

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New Insight into the genotype-phenotype correlation of PTH1R variants and primary failure of tooth eruption on an Italian Cohort von Modafferi, Clarissa, Tabolacci, Elisabetta, Lo Vecchio, Filomena, Cassano, Ilaria, Bertozzi, Roberto, Fargnoli, Arcangelo, Cafiero, Concetta, Lo Cascio, Ettore, Arcovito, Alessandro, Grippaudo, Cristina, Chiurazzi, Pietro

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A new gene for autosomal dominant facial palsy/migraine identified in a family by whole exome sequencing von Azzarà, Alessia, Cassano, Ilaria, Lintas, Carla, Bernardini, Laura, Pilato, Fabio, Capone, Fioravante, Di Lazzaro, Vincenzo, Gurrieri, Fiorella

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Deletion of a Single Lysine Residue at Position 292 of CAMK2A Disrupts Protein Function, Causing Severe Epileptic Encephalopathy and Intellectual Disability von Lintas, Carla, Facchiano, Angelo, Azzarà, Alessia, Cassano, Ilaria, Tabolacci, Claudio, Galasso, Cinzia, Gurrieri, Fiorella

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Melkersson–Rosenthal Syndrome and Migraine: A New Phenotype Associated with ISCN1A/I Variants? von Azzarà, Alessia, Cassano, Ilaria, Lintas, Carla, Pilato, Fabio, Capone, Fioravante, Di Lazzaro, Vincenzo, Gurrieri, Fiorella

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Genetic Dysruption of the Histaminergic Pathways: A Novel Deletion at the 15q21.2 locus Associated with Variable Expressivity of Neuropsychiatric Disorders von Lintas, Carla, Sacco, Roberto, Azzarà, Alessia, Cassano, Ilaria, Laino, Luigi, Grammatico, Paola, Gurrieri, Fiorella

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Genetic Dysruption of the Histaminergic Pathways: A Novel Deletion at the 15q21.2 Ilocus/I Associated with Variable Expressivity of Neuropsychiatric Disorders von Lintas, Carla, Sacco, Roberto, Azzarà, Alessia, Cassano, Ilaria, Laino, Luigi, Grammatico, Paola, Gurrieri, Fiorella

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Melkersson-Rosenthal Syndrome and Migraine: A New Phenotype Associated with SCN1A Variants? von Azzarà, Alessia, Cassano, Ilaria, Lintas, Carla, Pilato, Fabio, Capone, Fioravante, Di Lazzaro, Vincenzo, Gurrieri, Fiorella

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Expanding the Spectrum of IKDM5C/I Neurodevelopmental Disorder: A Novel De Novo Stop Variant in a Young Woman and Emerging Genotype–Phenotype Correlations von Lintas, Carla, Bottillo, Irene, Sacco, Roberto, Azzarà, Alessia, Cassano, Ilaria, Ciccone, Maria Pia, Grammatico, Paola, Gurrieri, Fiorella

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Expanding the Spectrum of KDM5C Neurodevelopmental Disorder: A Novel De Novo Stop Variant in a Young Woman and Emerging Genotype-Phenotype Correlations von Lintas, Carla, Bottillo, Irene, Sacco, Roberto, Azzarà, Alessia, Cassano, Ilaria, Ciccone, Maria Pia, Grammatico, Paola, Gurrieri, Fiorella

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Maternal Epigenetic Dysregulation as a Possible Risk Factor for Neurodevelopmental Disorders von Lintas, Carla, Cassano, Ilaria, Azzarà, Alessia, Stigliano, Maria Grazia, Gregorj, Chiara, Sacco, Roberto, Stoccoro, Andrea, Coppedè, Fabio, Gurrieri, Fiorella

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Genotype–Phenotype Correlations in Relation to Newly Emerging Monogenic Forms of Autism Spectrum Disorder and Associated Neurodevelopmental Disorders: The Importance of Phenotype R... von Lintas, Carla, Sacco, Roberto, Azzarà, Alessia, Cassano, Ilaria, Gurrieri, Fiorella

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Identification by Exome Sequencing of Predisposing Variants in Familial Cases of Autoinflammatory Recurrent Fevers von Sangiorgi, Eugenio, Azzarà, Alessia, Rumore, Roberto, Cassano, Ilaria, Verrecchia, Elena, Giacò, Luciano, Tullio, Maria Alessandra, Gurrieri, Fiorella, Manna, Raffaele

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Clinical and diagnostic imaging findings in a bengal tiger ( Panthera tigris tigris ) with cervical spondylomyelopathy: A case report von Fugazzotto, Domenico, Devoti, Chiara Costa, Cassano, Ilaria Anna, Teani, Chiara, Berti, Elisa, Brusati, Marta, Zeira, Offer

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Whole exome sequencing identifies a rare variant in MAS1 gene in a subject with lethal COVID-19 von Azzarà, Alessia, Cassano, Ilaria, Tirindelli, Maria Cristina, Nobile, Carolina, Schittone, Valentina, Paccagnella, Elisa, Lintas, Carla, Gurrieri, Fiorella

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