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Quantitative approaches to variant classification increase the yield and precision of genetic testing in Mendelian diseases: the case of hypertrophic cardiomyopathy 1-gen-2019 Walsh, R.; Mazzarotto, F.; Whiffin, N.; Buchan, R.; Midwinter, W.; Wilk, A.; Li, N.; Felkin, L.; Ingold, N.; Govind, R.; Ahmad, M.; Mazaika, E.; Allouba, M.; Zhang, X.; De Marvao, A.; Day, S. M.; Ashley, E.; Colan, S. D.; Michels, M.; Pereira, A. C.; Jacoby, D.; Ho, C. Y.; Thomson, K. L.; Watkins, H.; Barton, P. J. R.; Olivotto, I.; Cook, S. A.; Ware, J. S.
Rare predicted loss-of-function variants of type I IFN immunity genes are associated with life-threatening COVID-19 1-gen-2023 Matuozzo, Daniela; Talouarn, Estelle; Marchal, Astrid; Zhang, Peng; Manry, Jeremy; Seeleuthner, Yoann; Zhang, Yu; Bolze, Alexandre; Chaldebas, Matthieu; Milisavljevic, Baptiste; Gervais, Adrian; Bastard, Paul; Asano, Takaki; Bizien, Lucy; Barzaghi, Federica; Abolhassani, Hassan; Abou Tayoun, Ahmad; Aiuti, Alessandro; Alavi Darazam, Ilad; Allende, Luis M; Alonso-Arias, Rebeca; Arias, Andrés Augusto; Aytekin, Gokhan; Bergman, Peter; Bondesan, Simone; Bryceson, Yenan T; Bustos, Ingrid G; Cabrera-Marante, Oscar; Carcel, Sheila; Carrera, Paola; Casari, Giorgio; Chaïbi, Khalil; Colobran, Roger; Condino-Neto, Antonio; Covill, Laura E; Delmonte, Ottavia M; El Zein, Loubna; Flores, Carlos; Gregersen, Peter K; Gut, Marta; Haerynck, Filomeen; Halwani, Rabih; Hancerli, Selda; Hammarström, Lennart; Hatipoğlu, Nevin; Karbuz, Adem; Keles, Sevgi; Kyheng, Christèle; Leon-Lopez, Rafael; Franco, Jose Luis; Mansouri, Davood; Martinez-Picado, Javier; Metin Akcan, Ozge; Migeotte, Isabelle; Morange, Pierre-Emmanuel; Morelle, Guillaume; Martin-Nalda, Andrea; Novelli, Giuseppe; Novelli, Antonio; Ozcelik, Tayfun; Palabiyik, Figen; Pan-Hammarström, Qiang; de Diego, Rebeca Pérez; Planas-Serra, Laura; Pleguezuelo, Daniel E; Prando, Carolina; Pujol, Aurora; Reyes, Luis Felipe; Rivière, Jacques G; Rodriguez-Gallego, Carlos; Rojas, Julian; Rovere-Querini, Patrizia; Schlüter, Agatha; Shahrooei, Mohammad; Sobh, Ali; Soler-Palacin, Pere; Tandjaoui-Lambiotte, Yacine; Tipu, Imran; Tresoldi, Cristina; Troya, Jesus; van de Beek, Diederik; Zatz, Mayana; Zawadzki, Pawel; Al-Muhsen, Saleh Zaid; Alosaimi, Mohammed Faraj; Alsohime, Fahad M; Baris-Feldman, Hagit; Butte, Manish J; Constantinescu, Stefan N; Cooper, Megan A; Dalgard, Clifton L; Fellay, Jacques; Heath, James R; Lau, Yu-Lung; Lifton, Richard P; Maniatis, Tom; Mogensen, Trine H; von Bernuth, Horst; Lermine, Alban; Vidaud, Michel; Boland, Anne; Deleuze, Jean-François; Nussbaum, Robert; Kahn-Kirby, Amanda; Mentre, France; Tubiana, Sarah; Gorochov, Guy; Tubach, Florence; Hausfater, Pierre; Meyts, Isabelle; Zhang, Shen-Ying; Puel, Anne; Notarangelo, Luigi D; Boisson-Dupuis, Stephanie; Su, Helen C; Boisson, Bertrand; Jouanguy, Emmanuelle; Casanova, Jean-Laurent; Zhang, Qian; Abel, Laurent; Cobat, Aurélie; Eugenia, Quiros-Roldan; Castelli, Francesco
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