Heterozygous Mutations in the ADCK3 Gene in Siblings with Cerebellar Atrophy and Extreme Phenotypic Variability

Por Blumkin, Lubov, Leshinsky-Silver, Esther, Zerem, Ayelet, Yosovich, Keren, Lerman-Sagie, Tally, Lev, Dorit
Publicado em 2013

High Rate of Recurrent De Novo Mutations in Developmental and Epileptic Encephalopathies

Por Hamdan, Fadi F., Myers, Candace T., Cossette, Patrick, Lemay, Philippe, Spiegelman, Dan, Laporte, Alexandre Dionne, Nassif, Christina, Diallo, Ousmane, Monlong, Jean, Cadieux-Dion, Maxime, Dobrzeniecka, Sylvia, Meloche, Caroline, Retterer, Kyle, Cho, Megan T., Rosenfeld, Jill A., Bi, Weimin, Massicotte, Christine, Miguet, Marguerite, Brunga, Ledia, Regan, Brigid M., Mo, Kelly, Tam, Cory, Schneider, Amy, Hollingsworth, Georgie, FitzPatrick, David R., Donaldson, Alan, Canham, Natalie, Blair, Edward, Kerr, Bronwyn, Fry, Andrew E., Thomas, Rhys H., Shelagh, Joss, Hurst, Jane A., Brittain, Helen, Blyth, Moira, Lebel, Robert Roger, Gerkes, Erica H., Davis-Keppen, Laura, Stein, Quinn, Chung, Wendy K., Dorison, Sara J., Benke, Paul J., Fassi, Emily, Corsten-Janssen, Nicole, Kamsteeg, Erik-Jan, Mau-Them, Frederic T., Bruel, Ange-Line, Verloes, Alain, Õunap, Katrin, Wojcik, Monica H., Albert, Dara V.F., Venkateswaran, Sunita, Ware, Tyson, Jones, Dean, Liu, Yu-Chi, Mohammad, Shekeeb S., Bizargity, Peyman, Bacino, Carlos A., Leuzzi, Vincenzo, Martinelli, Simone, Dallapiccola, Bruno, Tartaglia, Marco, Blumkin, Lubov, Wierenga, Klaas J., Purcarin, Gabriela, O’Byrne, James J., Stockler, Sylvia, Lehman, Anna, Keren, Boris, Nougues, Marie-Christine, Mignot, Cyril, Auvin, Stéphane, Nava, Caroline, Hiatt, Susan M., Bebin, Martina, Shao, Yunru, Scaglia, Fernando, Lalani, Seema R., Frye, Richard E., Jarjour, Imad T., Jacques, Stéphanie, Boucher, Renee-Myriam, Riou, Emilie, Srour, Myriam, Carmant, Lionel, Lortie, Anne, Major, Philippe, Diadori, Paola, Dubeau, François, D’Anjou, Guy, Bourque, Guillaume, Berkovic, Samuel F., Sadleir, Lynette G., Campeau, Philippe M., Kibar, Zoha, Lafrenière, Ronald G., Girard, Simon L., Mercimek-Mahmutoglu, Saadet, Boelman, Cyrus, Rouleau, Guy A., Scheffer, Ingrid E., Mefford, Heather C., Andrade, Danielle M., Rossignol, Elsa, Minassian, Berge A., Michaud, Jacques L.
Publicado no Am J Hum Genet (2017)