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Journal Article
Marcogliese, Paul C., Deal, Samantha L., Andrews, Jonathan ORCID: 0000-0002-3086-7225, Harnish, J. Michael, Bhavana, V. Hemanjani, Graves, Hillary K., Jangam, Sharayu
ORCID: 0000-0001-7389-0890, Luo, Xi, Liu, Ning, Bei, Danqing, Hull, Brooke, Pan, Hongling, Bhadane, Pradnya, Longley, Colleen M., Haelterman, Nele A., Kanca, Oguz, Manivannan, Sathiya N., Rossetti, Linda Z., German, Ryan J., Gerard, Amanda, Schwaibold, Eva Maria Christina, Fehr, Sarah, Guerrini, Renzo
ORCID: 0000-0002-7272-7079, Vetro, Annalisa, England, Eleina, Murali, Chaya N., Barakat, Tahsin Stefan, van Dooren, Marieke F., Wilke, Martina, van Slegtenhorst, Marjon, Lesca, Gaetan, Sabatier, Isabelle, Chatron, Nicolas, Brownstein, Catherine A., Madden, Jill A., Agrawal, Pankaj B., Keren, Boris, Courtin, Thomas, Perrin, Laurence, Brugger, Melanie, Roser, Timo, Leiz, Steffen, Mau-Them, Frederic Tran, Delanne, Julian, Sukarova-Angelovska, Elena, Trajkova, Slavica, Rosenhahn, Erik, Strehlow, Vincent, Platzer, Konrad, Keller, Roberto, Pavinato, Lisa
ORCID: 0000-0002-7630-8365, Brusco, Alfredo, Rosenfeld, Jill A., Marom, Ronit, Wangler, Michael F. and Yamamoto, Shinya
(2022).
Drosophila functional screening of de novo variants in autism uncovers damaging variants and facilitates discovery of rare neurodevelopmental diseases.
Cell Reports, 38 (11).
CAMBRIDGE:
CELL PRESS.
ISSN 2211-1247
Pavinato, Lisa ORCID: 0000-0002-7630-8365, Trajkova, Slavica
ORCID: 0000-0002-0178-5327, Grosso, Enrico, Giorgio, Elisa
ORCID: 0000-0003-4076-4649, Bruselles, Alessandro
ORCID: 0000-0002-1556-4998, Radio, Francesca Clementina
ORCID: 0000-0003-1993-8018, Pippucci, Tommaso
ORCID: 0000-0001-7737-7963, Dimartino, Paola, Tartaglia, Marco
ORCID: 0000-0001-7736-9672, Petlichkovski, Aleksandar
ORCID: 0000-0002-1956-4063, De Rubeis, Silvia, Buxbaum, Joseph, Ferrero, Giovanni Battista, Keller, Roberto
ORCID: 0000-0002-6873-9827 and Brusco, Alfredo
(2021).
Expanding the clinical phenotype of the ultra-rare Skraban-Deardorff syndrome: Two novel individuals with WDR26 loss-of-function variants and a literature review.
Am. J. Med. Genet. A, 185 (6).
S. 1712 - 1721.
HOBOKEN:
WILEY.
ISSN 1552-4833