Deliberate paradigm shift in research in rare neurodevelopmental disorders

por Bain, Jennifer M., Ardalan, Adel, Goldman, Sylvie
Publicado 2021

Rett-like Phenotypes in HNRNPH2-Related Neurodevelopmental Disorder

por Gonzalez, Joseph Nicho, Goldman, Sylvie, Carter, Melissa T., Bain, Jennifer M.
Publicado 2023

PDGF-responsive progenitors persist in the subventricular zone across the lifespan

por Moore, Lisamarie, Bain, Jennifer M., Loh, Ji Meng, Levison, Steven W.
Publicado 2014

TGFß1 Stimulates the Over-Production of White Matter Astrocytes from Precursors of the “Brain Marrow” in a Rodent Model of Neonatal Encephalopathy

por Bain, Jennifer M., Ziegler, Amber, Yang, Zhengang, Levison, Steven W., Sen, Ellora
Publicado 2010

A novel de novo KDM5C variant in a female with global developmental delay and ataxia: a case report

por Lippa, Natalie C., Barua, Subit, Aggarwal, Vimla, Pereira, Elaine, Bain, Jennifer M.
Publicado 2021

3′ UTR Deletion of FBXO28 in a Patient with Brain Abnormalities and Developmental Delay

por Bi, Xin, Mulhern, Maureen S., Spiegel, Erica, Wapner, Ronald J., Levy, Brynn, Bain, Jennifer M., Liao, Jun
Publicado 2023

How Providers in Child Neurology Transitioned to Telehealth During COVID-19 Pandemic

por Bain, Jennifer M., Dyer, Codi-Ann, Galvin, Megan, Goldman, Sylvie, Selman, Jay, Silver, Wendy G., Tom, Sarah E.
Publicado 2021

Consistency of parent-report SLC6A1 data in Simons Searchlight with Provider-Based Publications

por Bain, Jennifer M., Snyder, LeeAnne Green, Helbig, Katherine L., Cooper, Dominique D., Chung, Wendy K., Goodspeed, Kimberly
Publicado 2022

Encephalopathy and bilateral thalamic lesions in a child with MIS-C associated with COVID-19

por Abel, Dori, Shen, Min Ye, Abid, Zaynah, Hennigan, Claire, Boneparth, Alexis, Miller, Emily Happy, Uhlemann, Anne-Catrin, McBrian, Danielle K., Thakur, Kiran, Silver, Wendy, Bain, Jennifer M.
Publicado 2020

Inpatient Neurology Consultations During the Onset of the SARS-CoV-2 New York City Pandemic: A Single Center Case Series

por Radmard, Sara, Epstein, Samantha E., Roeder, Hannah J., Michalak, Andrew J., Shapiro, Steven D., Boehme, Amelia, Wilson, Tommy J., Duran, Juan C., Bain, Jennifer M., Willey, Joshua Z., Thakur, Kiran T.
Publicado 2020

Classification of missense variants in the N-methyl-d-aspartate receptor GRIN gene family as gain- or loss-of-function

por Myers, Scott J, Yuan, Hongjie, Perszyk, Riley E, Zhang, Jing, Kim, Sukhan, Nocilla, Kelsey A, Allen, James P, Bain, Jennifer M, Lemke, Johannes R, Lal, Dennis, Benke, Timothy A, Traynelis, Stephen F
Publicado 2023

Neurologic manifestations in an infant with COVID-19

por Dugue, Rachelle, Cay-Martínez, Karla C., Thakur, Kiran T., Garcia, Joel A., Chauhan, Lokendra V., Williams, Simon H., Briese, Thomas, Jain, Komal, Foca, Marc, McBrian, Danielle K., Bain, Jennifer M., Lipkin, W. Ian, Mishra, Nischay
Publicado 2020

Cerebrospinal Analysis in Patients With COVID-19

por Miller, Emily Happy, Namale, Vivian S, Kim, Carla, Dugue, Rachelle, Waldrop, Greer, Ciryam, Prajwal, Chong, Alexander M, Zucker, Jason, Miller, Eliza C, Bain, Jennifer M, Willey, Joshua Z, Doyle, Kevin, Boehme, Amelia, Claassen, Jan, Uhlemann, Anne-Catrin, Thakur, Kiran T
Publicado 2020

Variant-specific effects define the phenotypic spectrum of HNRNPH2-associated neurodevelopmental disorders in males

por Kreienkamp, Hans-Jürgen, Wagner, Matias, Weigand, Heike, McConkie-Rossell, Allyn, McDonald, Marie, Keren, Boris, Mignot, Cyril, Gauthier, Julie, Soucy, Jean-François, Michaud, Jacques L., Dumas, Meghan, Smith, Rosemarie, Löbel, Ulrike, Hempel, Maja, Kubisch, Christian, Denecke, Jonas, Campeau, Philippe M., Bain, Jennifer M., Lessel, Davor
Publicado 2021

Detailed Clinical and Psychological Phenotype of the X-linked HNRNPH2-Related Neurodevelopmental Disorder

por Bain, Jennifer M., Thornburg, Olivia, Pan, Cheryl, Rome-Martin, Donnielle, Boyle, Lia, Fan, Xiao, Devinsky, Orrin, Frye, Richard, Hamp, Silke, Keator, Cynthia G., LaMarca, Nicole M., Maddocks, Alexis B.R., Madruga-Garrido, Marcos, Niederhoffer, Karen Y., Novara, Francesca, Peron, Angela, Poole-Di Salvo, Elizabeth, Salazar, Rachel, Skinner, Steven A., Soares, Gabriela, Goldman, Sylvie, Chung, Wendy K.
Publicado 2021

Assessment of Neurodevelopment in Infants With and Without Exposure to Asymptomatic or Mild Maternal SARS-CoV-2 Infection During Pregnancy

por Firestein, Morgan R., Shuffrey, Lauren C., Hu, Yunzhe, Kyle, Margaret, Hussain, Maha, Bianco, Catherine, Hott, Violet, Hyman, Sabrina P., Kyler, Mia, Rodriguez, Cynthia, Tejeda Romero, Melanie, Tzul Lopez, Helen, Alcántara, Carmela, Amso, Dima, Austin, Judy, Bain, Jennifer M., Barbosa, Jennifer, Battarbee, Ashley N., Bruno, Ann, Ettinger, Sharon, Factor-Litvak, Pam, Gilboa, Suzanne, Goldman, Sylvie, Gyamfi-Bannerman, Cynthia, Maniatis, Panagiotis, Marsh, Rachel, Morrill, Tyler, Mourad, Mirella, Muhle, Rebecca, Newes-Adeyi, Gabriella, Noble, Kimberly G., O’Reilly, Kally C., Penn, Anna A., Reichle, Lawrence, Sania, Ayesha, Semenova, Vera, Silver, Wendy G., Smotrich, Grace, Tita, Alan T., Tottenham, Nim, Varner, Michael, Welch, Martha G., Zork, Noelia, Garey, Donna, Fifer, William P., Stockwell, Melissa S., Monk, Catherine, Dawood, Fatimah, Dumitriu, Dani
Publicado 2023

CERT1 mutations perturb human development by disrupting sphingolipid homeostasis

por Gehin, Charlotte, Lone, Museer A., Lee, Winston, Capolupo, Laura, Ho, Sylvia, Adeyemi, Adekemi M., Gerkes, Erica H., Stegmann, Alexander P.A., López-Martín, Estrella, Bermejo-Sánchez, Eva, Martínez-Delgado, Beatriz, Zweier, Christiane, Kraus, Cornelia, Popp, Bernt, Strehlow, Vincent, Gräfe, Daniel, Knerr, Ina, Jones, Eppie R., Zamuner, Stefano, Abriata, Luciano A., Kunnathully, Vidya, Moeller, Brandon E., Vocat, Anthony, Rommelaere, Samuel, Bocquete, Jean-Philippe, Ruchti, Evelyne, Limoni, Greta, Van Campenhoudt, Marine, Bourgeat, Samuel, Henklein, Petra, Gilissen, Christian, van Bon, Bregje W., Pfundt, Rolph, Willemsen, Marjolein H., Schieving, Jolanda H., Leonardi, Emanuela, Soli, Fiorenza, Murgia, Alessandra, Guo, Hui, Zhang, Qiumeng, Xia, Kun, Fagerberg, Christina R., Beier, Christoph P., Larsen, Martin J., Valenzuela, Irene, Fernández-Álvarez, Paula, Xiong, Shiyi, Śmigiel, Robert, López-González, Vanesa, Armengol, Lluís, Morleo, Manuela, Selicorni, Angelo, Torella, Annalaura, Blyth, Moira, Cooper, Nicola S., Wilson, Valerie, Oegema, Renske, Herenger, Yvan, Garde, Aurore, Bruel, Ange-Line, Tran Mau-Them, Frederic, Maddocks, Alexis B.R., Bain, Jennifer M., Bhat, Musadiq A., Costain, Gregory, Kannu, Peter, Marwaha, Ashish, Champaigne, Neena L., Friez, Michael J., Richardson, Ellen B., Gowda, Vykuntaraju K., Srinivasan, Varunvenkat M., Gupta, Yask, Lim, Tze Y., Sanna-Cherchi, Simone, Lemaitre, Bruno, Yamaji, Toshiyuki, Hanada, Kentaro, Burke, John E., Jakšić, Ana Marjia, McCabe, Brian D., De Los Rios, Paolo, Hornemann, Thorsten, D’Angelo, Giovanni, Gennarino, Vincenzo A.
Publicado 2023

Functional and clinical studies reveal pathophysiological complexity of CLCN4-related neurodevelopmental condition

por Palmer, Elizabeth E., Pusch, Michael, Picollo, Alessandra, Forwood, Caitlin, Nguyen, Matthew H., Suckow, Vanessa, Gibbons, Jessica, Hoff, Alva, Sigfrid, Lisa, Megarbane, Andre, Nizon, Mathilde, Cogné, Benjamin, Beneteau, Claire, Alkuraya, Fowzan S., Chedrawi, Aziza, Hashem, Mais O., Stamberger, Hannah, Weckhuysen, Sarah, Vanlander, Arnaud, Ceulemans, Berten, Rajagopalan, Sulekha, Nunn, Kenneth, Arpin, Stéphanie, Raynaud, Martine, Motter, Constance S., Ward-Melver, Catherine, Janssens, Katrien, Meuwissen, Marije, Beysen, Diane, Dikow, Nicola, Grimmel, Mona, Haack, Tobias B., Clement, Emma, McTague, Amy, Hunt, David, Townshend, Sharron, Ward, Michelle, Richards, Linda J., Simons, Cas, Costain, Gregory, Dupuis, Lucie, Mendoza-Londono, Roberto, Dudding-Byth, Tracy, Boyle, Jackie, Saunders, Carol, Fleming, Emily, El Chehadeh, Salima, Spitz, Marie-Aude, Piton, Amelie, Gerard, Bénédicte, Abi Warde, Marie-Thérèse, Rea, Gillian, McKenna, Caoimhe, Douzgou, Sofia, Banka, Siddharth, Akman, Cigdem, Bain, Jennifer M., Sands, Tristan T., Wilson, Golder N., Silvertooth, Erin J., Miller, Lauren, Lederer, Damien, Sachdev, Rani, Macintosh, Rebecca, Monestier, Olivier, Karadurmus, Deniz, Collins, Felicity, Carter, Melissa, Rohena, Luis, Willemsen, Marjolein H., Ockeloen, Charlotte W., Pfundt, Rolph, Kroft, Sanne D., Field, Michael, Laranjeira, Francisco E. R., Fortuna, Ana M., Soares, Ana R., Michaud, Vincent, Naudion, Sophie, Golla, Sailaja, Weaver, David D., Bird, Lynne M., Friedman, Jennifer, Clowes, Virginia, Joss, Shelagh, Pölsler, Laura, Campeau, Philippe M., Blazo, Maria, Bijlsma, Emilia K., Rosenfeld, Jill A., Beetz, Christian, Powis, Zöe, McWalter, Kirsty, Brandt, Tracy, Torti, Erin, Mathot, Mikaël, Mohammad, Shekeeb S., Armstrong, Ruth, Kalscheuer, Vera M.
Publicado 2022