MEF2C hypofunction in neuronal and neuroimmune populations produces MEF2C haploinsufficiency syndrome-like behaviors in mice

Autor Harrington, Adam J., Bridges, Catherine M., Berto, Stefano, Blankenship, Kayla, Cho, Jennifer Y., Assali, Ahlem, Siemsen, Benjamin M., Moore, Hannah W., Tsvetkov, Evgeny, Thielking, Acadia, Konopka, Genevieve, Everman, David B., Scofield, Michael D., Skinner, Steven A., Cowan, Christopher W.
Vydáno v Biol Psychiatry (2020)

De Novo Variants in LMNB1 Cause Pronounced Syndromic Microcephaly and Disruption of Nuclear Envelope Integrity

Autor Cristofoli, Francesca, Moss, Tonya, Moore, Hannah W., Devriendt, Koen, Flanagan-Steet, Heather, May, Melanie, Jones, Julie, Roelens, Filip, Fons, Carmen, Fernandez, Anna, Martorell, Loreto, Selicorni, Angelo, Maitz, Silvia, Vitiello, Giuseppina, Van der Hoeven, Gerd, Skinner, Steven A., Bollen, Mathieu, Vermeesch, Joris R., Steet, Richard, Van Esch, Hilde
Vydáno v Am J Hum Genet (2020)

Delineation of a Human Mendelian Disorder of the DNA Demethylation Machinery: TET3 Deficiency

Autor Beck, David B., Petracovici, Ana, He, Chongsheng, Moore, Hannah W., Louie, Raymond J., Ansar, Muhammad, Douzgou, Sofia, Sithambaram, Sivagamy, Cottrell, Trudie, Santos-Cortez, Regie Lyn P., Prijoles, Eloise J., Bend, Renee, Keren, Boris, Mignot, Cyril, Nougues, Marie-Christine, Õunap, Katrin, Reimand, Tiia, Pajusalu, Sander, Zahid, Muhammad, Saqib, Muhammad Arif Nadeem, Buratti, Julien, Seaby, Eleanor G., McWalter, Kirsty, Telegrafi, Aida, Baldridge, Dustin, Shinawi, Marwan, Leal, Suzanne M., Schaefer, G. Bradley, Stevenson, Roger E., Banka, Siddharth, Bonasio, Roberto, Fahrner, Jill A.
Vydáno v Am J Hum Genet (2020)