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  1. Thalwitzer, Kim M.; Driedger, Jan H.; Xian, Julie; Saffari, Afshin; Zacher, Pia; Bölsterli, Bigna K.; Ruggiero, Sarah McKeown; Sullivan, Katie Rose; Datta, Alexandre N.; Kellinghaus, Christoph; Althaus, Jürgen; Wiemer-Kruel, Adelheid; van Baalen, Andreas; Pampel, Armin; Alber, Michael; Braakman, Hilde M.H.; Debus, Otfried M.; Denecke, Jonas; Hobbiebrunken, Elke; Breitweg, Ina; Diehl, Danielle; Eitel, Hans; Gburek-Augustat, Janina; Preisel, Martin; [...]

    Natural History and Developmental Trajectories of Individuals With Disease-Causing Variants in STXBP1

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    Ovid Technologies (Wolters Kluwer Health), 2023

    Published in: Neurology

  2. Fallerini, Chiara; Picchiotti, Nicola; Baldassarri, Margherita; Zguro, Kristina; Daga, Sergio; Fava, Francesca; Benetti, Elisa; Amitrano, Sara; Bruttini, Mirella; Palmieri, 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; [...]

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

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    Springer Science and Business Media LLC, 2022

    Published in: Human Genetics

  3. Kousathanas, Athanasios; Pairo-Castineira, Erola; Rawlik, Konrad; Stuckey, Alex; Odhams, Christopher A.; Walker, Susan; Russell, Clark D.; Malinauskas, Tomas; Wu, Yang; Millar, Jonathan; Shen, Xia; Elliott, Katherine S.; Griffiths, Fiona; Oosthuyzen, Wilna; Morrice, Kirstie; Keating, Sean; Wang, Bo; Rhodes, Daniel; Klaric, Lucija; Zechner, Marie; Parkinson, Nick; Siddiq, Afshan; Goddard, Peter; Donovan, Sally; [...]

    Whole-genome sequencing reveals host factors underlying critical COVID-19

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    Springer Science and Business Media LLC, 2022

    Published in: Nature

  4. Niemi, Mari E. K.; Karjalainen, Juha; Liao, Rachel G.; Neale, Benjamin M.; Daly, Mark; Ganna, Andrea; Pathak, Gita A.; Andrews, Shea J.; Kanai, Masahiro; Veerapen, Kumar; Fernandez-Cadenas, Israel; Schulte, Eva C.; Striano, Pasquale; Marttila, Minttu; Minica, Camelia; Marouli, Eirini; Karim, Mohd Anisul; Wendt, Frank R.; Savage, Jeanne; Sloofman, Laura; Butler-Laporte, Guillaume; Kim, Han-Na; Kanoni, Stavroula; Okada, Yukinori; [...]

    Mapping the human genetic architecture of COVID-19

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    Springer Science and Business Media LLC, 2021

    Published in: Nature