Gain and loss of function variants in EZH1 disrupt neurogenesis and cause dominant and recessive neurodevelopmental disorders

Gracia-Diaz, Carolina; Zhou, Yijing; Yang, Qian; Maroofian, Reza; Espana-Bonilla, Paula; Lee, Chul-Hwan; Zhang, Shuo; Padilla, Natàlia; Sirera, Natàlia Padilla; Arévalo, Raquel Fueyo; Fueyo, Raquel; Waxman, Elisa A.; Lei, Sunyimeng; Otrimski, Garrett; Li, Dong; Sheppard, Sarah E.; Mark, Paul R.; Harr, Margaret H.; Hakonarson, Hakon; Rodan, Lance; Jackson, Adam; Vasudevan, Pradeep; Powel, Corrina; Mohammed, Shehla; Maddirevula, Sateesh; Alzaidan, Hamad; Faqeih, Eissa A.; Efthymiou, Stephanie; Turchetti, Valentina; Rahman, Fatima; Maqbool, Shazia; Salpietro, Vincenzo; Ibrahim, Shahnaz H.; di Rosa, Gabriella; Houlden, Henry; Alharbi, Maha Nasser; Al-Sannaa, Nouriya Abbas; Bauer, Peter; Zifarelli, Giovanni; Estaras, Conchi; Hurst, Anna Ce E.; Thompson, Michelle L.; Chassevent, Anna; Smith Hicks, Constance L.; Xavier De la Cruz Montserrat, F. C. O.; de la Cruz, Xavier; Holtz, Alexander M.; Elloumi, Houda Zghal; Hajianpour, M. J.; Rieubland, Claudine; Braun, Dominique; Banka, Siddharth; Ambrose, J. C.; Arumugam, P.; Bevers, R.; Bleda, M.; Boardman Pretty, F.; Boustred, C. R.; Brittain, H.; Brown, M. A.; Caulfield, M. J.; Chan, G. C.; Giess, A.; Griffin, J. N.; Hamblin, A.; Henderson, S.; Hubbard, T. J. P.; Jackson, R.; Jones, L. J.; Kasperaviciute, D.; Kayikci, M.; Kousathanas, A.; Lahnstein, L.; Lakey, A.; Leigh, S. E. A.; Leong, I. U. S.; Lopez, F. J.; Maleady Crowe, F.; McEntagart, M.; Minneci, F.; Mitchell, J.; Moutsianas, L.; Mueller, M.; Murugaesu, N.; Need, A. C.; O’Donovan, P.; Odhams, C. A.; Patch, C.; Perez Gil, D.; Pereira, M. B.; Pullinger, J.; Rahim, T.; Rendon, A.; Rogers, T.; Savage, K.; Sawant, K.; Scott, R. H.; Siddiq, A.; Sieghart, A.; Smith, S. C.; Sosinsky, A.; Stuckey, A.; Tanguy, M.; Taylor Tavares, A. L.; Thomas, E. R. A.; Thompson, S. R.; Tucci, A.; Welland, M. J.; Williams, E.; Witkowska, K.; Wood, S. M.; Zarowiecki, M.; French, Deborah L.; Heller, Elizabeth A.; Saade, Murielle; Song, Hongjun; Ming, Guo-Li; Alkuraya, Fowzan S.; Agrawal, Pankaj B.; Reinberg, Danny; Bhoj, Elizabeth J.; Martínez Balbás, Marian A.; Akizu, Naiara; Lopez, Naiara Aquizu

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Gain and loss of function variants in EZH1 disrupt neurogenesis and cause dominant and recessive neurodevelopmental disorders

Journal article published in 2023 by Carolina Gracia-Diaz, Yijing Zhou, Qian Yang, Reza Maroofian, Paula Espana-Bonilla, Chul-Hwan Lee, Shuo Zhang, Natàlia Padilla, Natàlia Padilla Sirera, Raquel Fueyo Arévalo, Raquel Fueyo, Elisa A. Waxman

, Sunyimeng Lei, Garrett Otrimski, Dong Li and other authors.

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