FOXG1 variants can be associated with milder phenotypes than congenital Rett syndrome with unassisted walking and language development.

Autor: Mazel, Benoit, Delanne, Julian, Garde, Aurore, Racine, Caroline, Bruel, Ange‐Line, Duffourd, Yannis, Lopergolo, Diego, Santorelli, Filippo Maria, Marchi, Viviana, Pinto, Anna Maria, Mencarelli, Maria Antonietta, Canitano, Roberto, Valentino, Floriana, Papa, Filomena Tiziana, Fallerini, Chiara, Mari, Francesca, Renieri, Alessandra, Munnich, Arnold, Niclass, Tanguy, Le Guyader, Gwenaël

Publikováno v: American Journal of Medical Genetics. Part B: Neuropsychiatric Genetics; Sep2024, Vol. 195 Issue 6, p1-8, 8p

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Common, low-frequency, rare, and ultra-rare coding variants contribute to COVID-19 severity

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Mazzei, Susanna, Guerrini, Edoardo, Conticini, Luca, Cantarini, Bruno, Frediani, Danilo, Tacconi, Chiara Spertilli Raffaelli, Marco, Feri, Alice, Donati, Raffaele, Scala, Luca, Guidelli, Genni, Spargi, Marta, Corridi, Cesira, Nencioni, Leonardo, Croci, Gian Piero Caldarelli, Maurizio, Spagnesi, Davide, Romani, Paolo, Piacentini, Maria, Bandini, Elena, Desanctis, Silvia, Cappelli, Anna, Canaccini, Agnese, Verzuri, Valentina, Anemoli, Manola, Pisani, Agostino, Ognibene, Alessandro, Pancrazzi, Maria, Lorubbio, Massimo, Vaghi, Antonella, D 'Arminio Monforte, Federica Gaia Miraglia, Mario, U Mondelli, Massimo, Girardis, Sophie, Venturelli, Stefano, Busani, Andrea, Cossarizza, Andrea, Antinori, Alessandra, Vergori, Arianna, Emiliozzi, Stefano, Rusconi, Matteo, Siano, Arianna, Gabrieli, Agostino, Riva, Daniela, Francisci, Elisabetta, Schiaroli, Francesco, Paciosi, Andrea, Tommasi, Pier Giorgio Scotton, Francesca, Andretta, Sandro, Panese, Stefano, Baratti, Renzo, Scaggiante, Francesca, Gatti, 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Publikováno v: Human genetics 141 (2021): 147–173. doi:10.1007/s00439-021-02397-7
info:cnr-pdr/source/autori:Fallerini, Chiara; Picchiotti, Nicola; Baldassarri, Margherita; Zguro, Kristina; Daga, Sergio; Fava, Francesca; Benetti, Elisa; Amitrano, Sara; Bruttini, Mirella; Palmieril, Maria; Croci, Susanna; Lista, Mirjam; Beligni, Giada; Valentino, Floriana; Meloni, Ilaria; Tanfoni, Marco; Minnai, Francesca; Colombo, Francesca; Cabri, Enrico; Fratelli, Maddalena; Gabbi, Chiara; Mantovani, Stefania; Frullanti, Elisa; Gori, Marco; Crawley, Francis P.; Butler-Laporte, Guillaume; Richards, Brent; Zeberg, Hugo; Lipcsey, Miklos; Hultstrom, Michael; Ludwig, Kerstin U.; Schulte, Eva C.; Pairo-Castineira, Erola; Baillie, John Kenneth; Schmidt, Axel; Frithiof, Robert; Mari, Francesca; Renieri, Alessandra; Furini, Simone; GEN-COVID Multicenter Study (which includes Alessandra Stella and Filippo Biscarini)/titolo:Common, low-frequency, rare, and ultra-rare coding variants contribute to COVID-19 severity/doi:10.1007%2Fs00439-021-02397-7/rivista:Human genetics/anno:2021/pagina_da:147/pagina_a:173/intervallo_pagine:147–173/volume:141
Human genetics
Hum. Genet. 141, 147-173 (2022)
Human Genetics
2021, ' Common, low-frequency, rare, and ultra-rare coding variants contribute to COVID-19 severity ', Human Genetics . https://doi.org/10.1007/s00439-021-02397-7

The combined impact of common and rare exonic variants in COVID-19 host genetics is currently insufficiently understood. Here, common and rare variants from whole-exome sequencing data of about 4000 SARS-CoV-2-positive individuals were used to define

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e4836dbe8027e2289c8e8ff11bfe68cc
https://doi.org/10.1101/2021.09.03.21262611

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