Macrocerebellum, Epilepsy, Intellectual Disability and Gut Malrotation in a Child with a 16q24.1-q24.2 Contiguous Gene Deletion

Bằng Seeley, Andrea H., Durham, Mark A., Micale, Mark A., Wesolowski, Jeffrey, Foerster, Bradley R., Martin, Donna M.
Xuất bản năm Am J Med Genet A (2014)

The chromatin remodeling protein CHD7, mutated in CHARGE syndrome, is necessary for proper craniofacial and tracheal development

Bằng Sperry, Ethan D., Hurd, Elizabeth A., Durham, Mark A., Reamer, Elyse N., Stein, Adam B., Martin, Donna M.
Được phát hành 2014

CHD7 and retinoic acid signaling cooperate to regulate neural stem cell and inner ear development in mouse models of CHARGE syndrome

Bằng Micucci, Joseph A., Layman, Wanda S., Hurd, Elizabeth A., Sperry, Ethan D., Frank, Sophia F., Durham, Mark A., Swiderski, Donald L., Skidmore, Jennifer M., Scacheri, Peter C., Raphael, Yehoash, Martin, Donna M.
Được phát hành 2014

Losing Dnmt3a dependent methylation in inhibitory neurons impairs neural function by a mechanism impacting Rett syndrome

Bằng Lavery, Laura A, Ure, Kerstin, Wan, Ying-Wooi, Luo, Chongyuan, Trostle, Alexander J, Wang, Wei, Jin, Haijing, Lopez, Joanna, Lucero, Jacinta, Durham, Mark A, Castanon, Rosa, Nery, Joseph R, Liu, Zhandong, Goodell, Margaret, Ecker, Joseph R, Behrens, M Margarita, Zoghbi, Huda Y
Xuất bản năm eLife (2020)