Search Results - "Hallgren, Jodi"

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    Progressive cardiorespiratory dysfunction in Kv1.1 knockout mice may provide temporal biomarkers of pending sudden unexpected death in epilepsy (SUDEP): The contribution of orexin by Iyer, Shruthi H., Aggarwal, Ankita, Warren, Ted J., Hallgren, Jodi, Abel, Peter W., Simeone, Timothy A., Simeone, Kristina A.

    Published in Epilepsia (Copenhagen) (01-03-2020)
    “…Objective Immediately preceding sudden unexpected death in epilepsy (SUDEP), patients experienced a final generalized tonic‐clonic seizure (GTCS), rapid…”
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  2. 2

    KMT5B is required for early motor development by Hulen, Jason, Kenny, Dorothy, Black, Rebecca, Hallgren, Jodi, Hammond, Kelley G, Bredahl, Eric C, Wickramasekara, Rochelle N, Abel, Peter W, Stessman, Holly A F

    Published in Frontiers in genetics (12-08-2022)
    “…Disruptive variants in lysine methyl transferase 5B (KMT5B/SUV4-20H1) have been identified as likely-pathogenic among humans with neurodevelopmental phenotypes…”
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    Differential effects by sex with Kmt5b loss by Wickramasekara, Rochelle N., Robertson, Brynn, Hulen, Jason, Hallgren, Jodi, Stessman, Holly A. F.

    Published in Autism research (01-08-2021)
    “…Lysine methyl transferase 5B (KMT5B) has been recently highlighted as a risk gene in genetic studies of neurodevelopmental disorders (NDDs), specifically,…”
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    Mechanism of KMT5B haploinsufficiency in neurodevelopment in humans and mice by Sheppard, Sarah E, Bryant, Laura, Wickramasekara, Rochelle N, Vaccaro, Courtney, Robertson, Brynn, Hallgren, Jodi, Hulen, Jason, Watson, Cynthia J, Faundes, Victor, Duffourd, Yannis, Lee, Pearl, Simon, M Celeste, de la Cruz, Xavier, Padilla, Natália, Flores-Mendez, Marco, Akizu, Naiara, Smiler, Jacqueline, Pellegrino Da Silva, Renata, Li, Dong, March, Michael, Diaz-Rosado, Abdias, Peixoto de Barcelos, Isabella, Choa, Zhao Xiang, Lim, Chin Yan, Dubourg, Christèle, Journel, Hubert, Demurger, Florence, Mulhern, Maureen, Akman, Cigdem, Lippa, Natalie, Andrews, Marisa, Baldridge, Dustin, Constantino, John, van Haeringen, Arie, Snoeck-Streef, Irina, Chow, Penny, Hing, Anne, Graham, Jr, John M, Au, Margaret, Faivre, Laurence, Shen, Wei, Mao, Rong, Palumbos, Janice, Viskochil, David, Gahl, William, Tifft, Cynthia, Macnamara, Ellen, Hauser, Natalie, Miller, Rebecca, Maffeo, Jessica, Afenjar, Alexandra, Doummar, Diane, Keren, Boris, Arn, Pamela, Macklin-Mantia, Sarah, Meerschaut, Ilse, Callewaert, Bert, Reis, André, Zweier, Christiane, Brewer, Carole, Saggar, Anand, Smeland, Marie F, Kumar, Ajith, Elmslie, Frances, Deshpande, Charu, Nizon, Mathilde, Cogne, Benjamin, van Ierland, Yvette, Wilke, Martina, van Slegtenhorst, Marjon, Koudijs, Suzanne, Chen, Jin Yun, Dredge, David, Pier, Danielle, Wortmann, Saskia, Kamsteeg, Erik-Jan, Koch, Johannes, Haynes, Devon, Pollack, Lynda, Titheradge, Hannah, Ranguin, Kara, Denommé-Pichon, Anne-Sophie, Weber, Sacha, Pérez de la Fuente, Rubén, Sánchez Del Pozo, Jaime, Lezana Rosales, Jose Miguel, Joset, Pascal, Steindl, Katharina, Rauch, Anita, Mei, Davide, Mari, Francesco, Guerrini, Renzo, Lespinasse, James, Tran Mau-Them, Frédéric, Philippe, Christophe, Dauriat, Benjamin, Raymond, Laure, Moutton, Sébastien, Cueto-González, Anna M, Tan, Tiong Yang

    Published in Science advances (10-03-2023)
    “…Pathogenic variants in , a lysine methyltransferase, are associated with global developmental delay, macrocephaly, autism, and congenital anomalies (OMIM…”
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