MAP3K1 function is essential for cytoarchitecture of the mouse organ of Corti and survival of auditory hair cells

by Yousaf, Rizwan, Meng, Qinghang, Hufnagel, Robert B., Xia, Ying, Puligilla, Chandrakala, Ahmed, Zubair M., Riazuddin, Saima
Published 2015

Congenital Cataracts and Gut Dysmotility in a DYNC1H1 Dyneinopathy Patient

by Gelineau-Morel, Rose, Lukacs, Marshall, Weaver, K. Nicole, Hufnagel, Robert B., Gilbert, Donald L., Stottmann, Rolf W.
Published 2016

Case of Small Vessel Disease Associated with COL4A1 Mutations following Trauma

by Plancher, Joao McONeil, Hufnagel, Robert B., Vagal, Achala, Peariso, Katrina, Saal, Howard M., Broderick, Joseph P.
Published 2015

A mutation in the tuft mouse disrupts TET1 activity and alters the expression of genes that are crucial for neural tube closure

by Fong, Keith S. K., Hufnagel, Robert B., Khadka, Vedbar S., Corley, Michael J., Maunakea, Alika K., Fogelgren, Ben, Ahmed, Zubair M., Lozanoff, Scott
Published 2016

Cone Photoreceptor Structure in Patients With X-Linked Cone Dysfunction and Red-Green Color Vision Deficiency

by Patterson, Emily J., Wilk, Melissa, Langlo, Christopher S., Kasilian, Melissa, Ring, Michael, Hufnagel, Robert B., Dubis, Adam M., Tee, James J., Kalitzeos, Angelos, Gardner, Jessica C., Ahmed, Zubair M., Sisk, Robert A., Larsen, Michael, Sjoberg, Stacy, Connor, Thomas B., Dubra, Alfredo, Neitz, Jay, Hardcastle, Alison J., Neitz, Maureen, Michaelides, Michel, Carroll, Joseph
Published 2016

Characterization of mutations of the phosphoinositide-3-kinase regulatory subunit, PIK3R2, in perisylvian polymicrogyria: a next generation sequencing study

by Mirzaa, Ghayda, Conti, Valerio, Timms, Andrew E., Smyser, Christopher D., Ahmed, Sarah, Carter, Melissa, Barnett, Sarah, Hufnagel, Robert B., Goldstein, Amy, Narumi-Kishimoto, Yoko, Olds, Carissa, Collins, Sarah, Johnston, Kathreen, Deleuze, Jean-François, Nitschké, Patrick, Friend, Kathryn, Harris, Catharine, Goetsch, Allison, Martin, Beth, Boyle, Evan August, Parrini, Elena, Mei, Davide, Tattini, Lorenzo, Slavotinek, Anne, Blair, Ed, Barnett, Christopher, Shendure, Jay, Chelly, Jamel, Dobyns, William B., Guerrini, Renzo
Published 2015

Mutations in the UGO1-like protein SLC25A46 cause an optic atrophy spectrum disorder

by Abrams, Alexander J., Hufnagel, Robert B., Rebelo, Adriana, Zanna, Claudia, Patel, Neville, Gonzalez, Michael A., Campeanu, Ion J., Griffin, Laurie B., Groenewald, Saskia, Strickland, Alleene V., Tao, Feifei, Speziani, Fiorella, Abreu, Lisa, Schüle, Rebecca, Caporali, Leonardo, La Morgia, Chiara, Maresca, Alessandra, Liguori, Rocco, Lodi, Raffaele, Ahmed, Zubair M., Sund, Kristen L., Wang, Xinjian, Krueger, Laura A., Peng, Yanyan, Prada, Carlos E., Prows, Cynthia A., Bove, Kevin, Schorry, Elizabeth K., Antonellis, Anthony, Zimmerman, Holly H., Abdul-Rahman, Omar A., Yang, Yaping, Downes, Susan M., Prince, Jeffery, Fontanesi, Flavia, Barrientos, Antonio, Nemeth, Andrea H., Carelli, Valerio, Huang, Taosheng, Zuchner, Stephan, Dallman, Julia E.
Published 2015