Sudden unexpected death in asymptomatic infants due to PPA2 variants

por Phoon, Colin K. L., Halvorsen, Matthew, Goldstein, David B., Rabin, Rachel, Cecchin, Frank, Crandall, Laura, Devinsky, Orrin
Publicado 2019

Neurocognitive moderation of repetitive transcranial magnetic stimulation (rTMS) effects on cannabis use in schizophrenia: a preliminary analysis

por Johnstone, Samantha, Lowe, Darby J. E., Kozak-Bidzinski, Karolina, Sanches, Marcos, Castle, David J., Rabin, Jennifer S., Rabin, Rachel A., George, Tony P.
Publicado 2022

Investigating repetitive transcranial magnetic stimulation on cannabis use and cognition in people with schizophrenia

por Bidzinski, Karolina Kozak, Lowe, Darby J. E., Sanches, Marcos, Sorkhou, Maryam, Boileau, Isabelle, Kiang, Michael, Blumberger, Daniel M., Remington, Gary, Ma, Clement, Castle, David J., Rabin, Rachel A., George, Tony P.
Publicado 2022

De novo mutations in childhood cases of sudden unexplained death that disrupt intracellular Ca(2+) regulation

por Halvorsen, Matthew, Gould, Laura, Wang, Xiaohan, Grant, Gariel, Moya, Raquel, Rabin, Rachel, Ackerman, Michael J., Tester, David J., Lin, Peter T., Pappas, John G., Maurano, Matthew T., Goldstein, David B., Tsien, Richard W., Devinsky, Orrin
Publicado 2021

Common and gender‐specific associations with cocaine use on gray matter volume: Data from the ENIGMA addiction working group

por Rabin, Rachel A., Mackey, Scott, Parvaz, Muhammad A., Cousijn, Janna, Li, Chiang‐shan, Pearlson, Godfrey, Schmaal, Lianne, Sinha, Rajita, Stein, Elliot, Veltman, Dick, Thompson, Paul M., Conrod, Patricia, Garavan, Hugh, Alia‐Klein, Nelly, Goldstein, Rita Z.
Publicado 2020

Clinical Heterogeneity and Different Phenotypes in Patients with SETD2 Variants: 18 New Patients and Review of the Literature

por Parra, Alejandro, Rabin, Rachel, Pappas, John, Pascual, Patricia, Cazalla, Mario, Arias, Pedro, Gallego-Zazo, Natalia, Santana, Alfredo, Arroyo, Ignacio, Artigas, Mercè, Pachajoa, Harry, Alanay, Yasemin, Akgun-Dogan, Ozlem, Ruaud, Lyse, Couque, Nathalie, Levy, Jonathan, Porras-Hurtado, Gloria Liliana, Santos-Simarro, Fernando, Ballesta-Martinez, Maria Juliana, Guillén-Navarro, Encarna, Muñoz-Hernández, Hugo, Nevado, Julián, Tenorio-Castano, Jair, Lapunzina, Pablo
Publicado 2023

Impaired protein hydroxylase activity causes replication stress and developmental abnormalities in humans

por Fletcher, Sally C., Hall, Charlotte, Kennedy, Tristan J., Pajusalu, Sander, Wojcik, Monica H., Boora, Uncaar, Li, Chan, Oja, Kaisa Teele, Hendrix, Eline, Westrip, Christian A.E., Andrijes, Regina, Piasecka, Sonia K., Singh, Mansi, El-Asrag, Mohammed E., Ptasinska, Anetta, Tillmann, Vallo, Higgs, Martin R., Carere, Deanna A., Beggs, Andrew D., Pappas, John, Rabin, Rachel, Smerdon, Stephen J., Stewart, Grant S., Õunap, Katrin, Coleman, Mathew L.
Publicado 2023

Association between cannabis use and symptom dimensions in schizophrenia spectrum disorders: an individual participant data meta-analysis on 3053 individuals

por Argote, Mathilde, Sescousse, Guillaume, Brunelin, Jérôme, Baudin, Grégoire, Schaub, Michael Patrick, Rabin, Rachel, Schnell, Thomas, Ringen, Petter Andreas, Andreassen, Ole Andreas, Addington, Jean Margaret, Brambilla, Paolo, Delvecchio, Giuseppe, Bechdolf, Andreas, Wobrock, Thomas, Schneider-Axmann, Thomas, Herzig, Daniela, Mohr, Christine, Vila-Badia, Regina, Rodie, Judith Usall, Mallet, Jasmina, Ricci, Valerio, Martinotti, Giovanni, Knížková, Karolína, Rodriguez, Mabel, Cookey, Jacob, Tibbo, Philip, Scheffler, Freda, Asmal, Laila, Garcia-Rizo, Clemente, Amoretti, Silvia, Huber, Christian, Thibeau, Heather, Kline, Emily, Fakra, Eric, Jardri, Renaud, Nourredine, Mikail, Rolland, Benjamin
Publicado 2023

Variants in TCF20 in neurodevelopmental disability: description of 27 new patients and review of literature

por Torti, Erin, Keren, Boris, Palmer, Elizabeth E., Zhu, Zehua, Afenjar, Alexandra, Anderson, Ilse. J., Andrews, Marisa V., Atkinson, Celia, Au, Margaret, Berry, Susan A., Bowling, Kevin M., Boyle, Jackie, Buratti, Julien, Cathey, Sara S., Charles, Perrine, Cogne, Benjamin, Courtin, Thomas, Escobar, Luis F., Finley, Sabra Ledare, Graham, John M., Grange, Dorothy K., Heron, Delphine, Hewson, Stacy, Hiatt, Susan M., Hibbs, Kathleen A., Jayakar, Parul, Kalsner, Louisa, Larcher, Lise, Lesca, Gaetan, Mark, Paul R., Miller, Kathryn, Nava, Caroline, Nizon, Mathilde, Pai, G. Shashidhar, Pappas, John, Parsons, Gretchen, Payne, Katelyn, Putoux, Audrey, Rabin, Rachel, Sabatier, Isabelle, Shinawi, Marwan, Shur, Natasha, Skinner, Steven A., Valence, Stephanie, Warren, Hannah, Whalen, Sandra, Crunk, Amy, Douglas, Ganka, Monaghan, Kristin G., Person, Richard E., Willaert, Rebecca, Solomon, Benjamin D., Juusola, Jane
Publicado 2019

Germline AGO2 mutations impair RNA interference and human neurological development

por Lessel, Davor, Zeitler, Daniela M., Reijnders, Margot R. F., Kazantsev, Andriy, Hassani Nia, Fatemeh, Bartholomäus, Alexander, Martens, Victoria, Bruckmann, Astrid, Graus, Veronika, McConkie-Rosell, Allyn, McDonald, Marie, Lozic, Bernarda, Tan, Ee-Shien, Gerkes, Erica, Johannsen, Jessika, Denecke, Jonas, Telegrafi, Aida, Zonneveld-Huijssoon, Evelien, Lemmink, Henny H., Cham, Breana W. M., Kovacevic, Tanja, Ramsdell, Linda, Foss, Kimberly, Le Duc, Diana, Mitter, Diana, Syrbe, Steffen, Merkenschlager, Andreas, Sinnema, Margje, Panis, Bianca, Lazier, Joanna, Osmond, Matthew, Hartley, Taila, Mortreux, Jeremie, Busa, Tiffany, Missirian, Chantal, Prasun, Pankaj, Lüttgen, Sabine, Mannucci, Ilaria, Lessel, Ivana, Schob, Claudia, Kindler, Stefan, Pappas, John, Rabin, Rachel, Willemsen, Marjolein, Gardeitchik, Thatjana, Löhner, Katharina, Rump, Patrick, Dias, Kerith-Rae, Evans, Carey-Anne, Andrews, Peter Ian, Roscioli, Tony, Brunner, Han G., Chijiwa, Chieko, Lewis, M. E. Suzanne, Jamra, Rami Abou, Dyment, David A., Boycott, Kym M., Stegmann, Alexander P. A., Kubisch, Christian, Tan, Ene-Choo, Mirzaa, Ghayda M., McWalter, Kirsty, Kleefstra, Tjitske, Pfundt, Rolph, Ignatova, Zoya, Meister, Gunter, Kreienkamp, Hans-Jürgen
Publicado 2020