P238: Discovery of the phenotypic landscape and mechanistic understanding of NAA10-related and NAA15-related neurodevelopmental syndromes, using mouse models and iPSCs
Lyon, Gholson, Vedaie, Marall, Beisheim, Travis, Park, Agnes, Marchi, Elaine, Gottlieb, Leah, Starr, Lois, Sandomirsky, Katherine, Cheng, Hanyin, Preddy, Isabelle, Tseng, Marcellus, Li, Quan, Wang, Kai, Gavin, Maureen, Amble, Karen, Marmorstein, Ronen, Herr-Israel, Ellen, Harpell, Randie, Nashat, Melissa, Ma, Ning, Belbachir, Nadjet, Wu, Joseph, Hsieh, Tzung-Chien, Krawitz, Peter, Rope, Alan, Monsma, Frederick, Wesely, Josephine, Chen, Yu-Ren, Hunter, Christopher, Bauer, Lauren, Rusielewicz, Tom, Kneeland, Stephen, Lutz, Cat, Snow, Kathy, Murray, Steve, Gropman, Andrea, Whitehead, Matthew, Garcia, Andrew, Inusa, Fatima, Longo, Joseph, Fleischer, Nicole, Bolton, David, Reese, Martin, Hu, Yu
Published in Genetics in Medicine Open (2023)
Published in Genetics in Medicine Open (2023)
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Journal Article
Expanding the phenotypic spectrum of NAA10-related neurodevelopmental syndrome and NAA15-related neurodevelopmental syndrome
Lyon, Gholson J, Vedaie, Marall, Beisheim, Travis, Park, Agnes, Marchi, Elaine, Gottlieb, Leah, Hsieh, Tzung-Chien, Klinkhammer, Hannah, Sandomirsky, Katherine, Cheng, Hanyin, Starr, Lois J, Preddy, Isabelle, Tseng, Marcellus, Li, Quan, Hu, Yu, Wang, Kai, Carvalho, Ana, Martinez, Francisco, Caro-Llopis, Alfonso, Gavin, Maureen, Amble, Karen, Krawitz, Peter, Marmorstein, Ronen, Herr-Israel, Ellen
Published in European journal of human genetics : EJHG (01.07.2023)
Published in European journal of human genetics : EJHG (01.07.2023)
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Journal Article