Search Results - Martino, Julia M.

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    AMPA receptor GluA2 subunit defects are a cause of neurodevelopmental disorders by Salpietro, Vincenzo, Dixon, Christine L., Guo, Hui, Bello, Oscar D., Vandrovcova, Jana, Efthymiou, Stephanie, Maroofian, Reza, Heimer, Gali, Burglen, Lydie, Valence, Stephanie, Torti, Erin, Hacke, Moritz, Rankin, Julia, Tariq, Huma, Colin, Estelle, Procaccio, Vincent, Striano, Pasquale, Mankad, Kshitij, Lieb, Andreas, Chen, Sharon, Pisani, Laura, Bettencourt, Conceicao, Männikkö, Roope, Manole, Andreea, Brusco, Alfredo, Grosso, Enrico, Ferrero, Giovanni Battista, Armstrong-Moron, Judith, Gueden, Sophie, Bar-Yosef, Omer, Tzadok, Michal, Monaghan, Kristin G., Santiago-Sim, Teresa, Person, Richard E., Cho, Megan T., Willaert, Rebecca, Yoo, Yongjin, Chae, Jong-Hee, Quan, Yingting, Wu, Huidan, Wang, Tianyun, Bernier, Raphael A., Xia, Kun, Blesson, Alyssa, Jain, Mahim, Motazacker, Mohammad M., Jaeger, Bregje, Schneider, Amy L., Boysen, Katja, Muir, Alison M., Myers, Candace T., Gavrilova, Ralitza H., Gunderson, Lauren, Schultz-Rogers, Laura, Klee, Eric W., Dyment, David, Osmond, Matthew, Parellada, Mara, Llorente, Cloe, Gonzalez-Peñas, Javier, Carracedo, Angel, Van Haeringen, Arie, Ruivenkamp, Claudia, Nava, Caroline, Heron, Delphine, Nardello, Rosaria, Iacomino, Michele, Minetti, Carlo, Skabar, Aldo, Fabretto, Antonella, Raspall-Chaure, Miquel, Chez, Michael, Tsai, Anne, Fassi, Emily, Shinawi, Marwan, Constantino, John N., De Zorzi, Rita, Fortuna, Sara, Kok, Fernando, Keren, Boris, Bonneau, Dominique, Choi, Murim, Benzeev, Bruria, Zara, Federico, Mefford, Heather C., Scheffer, Ingrid E., Clayton-Smith, Jill, Macaya, Alfons, Rothman, James E., Eichler, Evan E., Kullmann, Dimitri M., Houlden, Henry

    Published in Nature communications
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    Enhancing untargeted metabolomics using metadata-based source annotation by Gauglitz, Julia M., West, Kiana A., Bittremieux, Wout, Williams, Candace L., Weldon, Kelly C., Panitchpakdi, Morgan, Di Ottavio, Francesca, Aceves, Christine M., Brown, Elizabeth, Sikora, Nicole C., Jarmusch, Alan K., Martino, Cameron, Tripathi, Anupriya, Meehan, Michael J., Dorrestein, Kathleen, Shaffer, Justin P., Coras, Roxana, Vargas, Fernando, Goldasich, Lindsay DeRight, Schwartz, Tara, Bryant, MacKenzie, Humphrey, Gregory, Johnson, Abigail J., Spengler, Katharina, Belda-Ferre, Pedro, Diaz, Edgar, McDonald, Daniel, Zhu, Qiyun, Elijah, Emmanuel O., Wang, Mingxun, Marotz, Clarisse, Sprecher, Kate E., Vargas-Robles, Daniela, Withrow, Dana, Ackermann, Gail, Herrera, Lourdes, Bradford, Barry J., Marques, Lucas Maciel Mauriz, Amaral, Juliano Geraldo, Silva, Rodrigo Moreira, Veras, Flavio Protasio, Cunha, Thiago Mattar, Oliveira, Rene Donizeti Ribeiro, Louzada-Junior, Paulo, Mills, Robert H., Piotrowski, Paulina K., Servetas, Stephanie L., Da Silva, Sandra M., Jones, Christina M., Lin, Nancy J., Lippa, Katrice A., Jackson, Scott A., Daouk, Rima Kaddurah, Galasko, Douglas, Dulai, Parambir S., Kalashnikova, Tatyana I., Wittenberg, Curt, Terkeltaub, Robert, Doty, Megan M., Kim, Jae H., Rhee, Kyung E., Beauchamp-Walters, Julia, Wright, Kenneth P., Dominguez-Bello, Maria Gloria, Manary, Mark, Oliveira, Michelli F., Boland, Brigid S., Lopes, Norberto Peporine, Guma, Monica, Swafford, Austin D., Dutton, Rachel J., Knight, Rob, Dorrestein, Pieter C.

    Published in Nature biotechnology
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    De novo TRIM8 variants impair its protein localization to nuclear bodies and cause developmental delay, epilepsy, and focal segmental glomerulosclerosis by Weng, Patricia L., Majmundar, Amar J., Khan, Kamal, Lim, Tze Y., Shril, Shirlee, Jin, Gina, Musgrove, John, Wang, Minxian, Ahram, Dina F., Aggarwal, Vimla S., Bier, Louise E., Heinzen, Erin L., Onuchic-Whitford, Ana C., Mann, Nina, Buerger, Florian, Schneider, Ronen, Deutsch, Konstantin, Kitzler, Thomas M., Klämbt, Verena, Kolb, Amy, Mao, Youying, Moufawad El Achkar, Christelle, Mitrotti, Adele, Martino, Jeremiah, Beck, Bodo B., Altmüller, Janine, Benz, Marcus R., Yano, Shoji, Mikati, Mohamad A., Gunduz, Talha, Cope, Heidi, Shashi, Vandana, Trachtman, Howard, Bodria, Monica, Caridi, Gianluca, Pisani, Isabella, Fiaccadori, Enrico, AbuMaziad, Asmaa S., Martinez-Agosto, Julian A., Yadin, Ora, Zuckerman, Jonathan, Kim, Arang, John-Kroegel, Ulrike, Tyndall, Amanda V., Parboosingh, Jillian S., Innes, A. Micheil, Bierzynska, Agnieszka, Koziell, Ania B., Muorah, Mordi, Saleem, Moin A., Hoefele, Julia, Riedhammer, Korbinian M., Gharavi, Ali G., Jobanputra, Vaidehi, Pierce-Hoffman, Emma, Seaby, Eleanor G., O’Donnell-Luria, Anne, Rehm, Heidi L., Mane, Shrikant, D’Agati, Vivette D., Pollak, Martin R., Ghiggeri, Gian Marco, Lifton, Richard P., Goldstein, David B., Davis, Erica E., Hildebrandt, Friedhelm, Sanna-Cherchi, Simone

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