TUBB3 and KIF21A in neurodevelopment and disease

por Puri, Dharmendra, Barry, Brenda J., Engle, Elizabeth C.
Publicado 2023

Candidate Gene Sequencing of LHX2, HESX1, and SOX2 in a Large Schizencephaly Cohort

por Mellado, Cecilia, Poduri, Annapurna, Gleason, Danielle, Elhosary, Princess C, Barry, Brenda J, Partlow, Jennifer N, Chang, Bernard S, Shaw, Gary M, Barkovich, A James, Walsh, Christopher A
Publicado 2010

Congenital monocular elevation deficiency associated with a novel TUBB3 gene variant

por Thomas, Mervyn G, Maconachie, Gail D E, Constantinescu, Cris S, Chan, Wai-Man, Barry, Brenda, Hisaund, Michael, Sheth, Viral, Kuht, Helen J, Dineen, Rob A, Harieaswar, Sreemathi, Engle, Elizabeth C, Gottlob, Irene
Publicado 2020

Optic Nerve Head and Retinal Abnormalities Associated with Congenital Fibrosis of the Extraocular Muscles

por Thomas, Mervyn G., Maconachie, Gail D. E., Kuht, Helen J., Chan, Wai-Man, Sheth, Viral, Hisaund, Michael, McLean, Rebecca J., Barry, Brenda, Al-Diri, Bashir, Proudlock, Frank A., Tu, Zhanhan, Engle, Elizabeth C., Gottlob, Irene
Publicado 2021

Developmental and Degenerative Features in a Complicated Spastic Paraplegia

por Manzini, M Chiara, Rajab, Anna, Maynard, Thomas M, Mochida, Ganeshwaran H, Tan, Wen-Hann, Nasir, Ramzi, Hill, R Sean, Gleason, Danielle, Al Saffar, Muna, Partlow, Jennifer N, Barry, Brenda J, Vernon, Mike, LaMantia, Anthony-Samuel, Walsh, Christopher A
Publicado 2010

Mutations in WDR62, encoding a centrosome-associated protein, cause microcephaly with simplified gyri and abnormal cortical architecture

por Yu, Timothy W., Mochida, Ganeshwaran H., Tischfield, David J., Sgaier, Sema K., Flores-Sarnat, Laura, Sergi, Consolato M., Topçu, Meral, McDonald, Marie T., Barry, Brenda J., Felie, Jillian, Sunu, Christine, Dobyns, William B., Folkerth, Rebecca D., Barkovich, A. James, Walsh, Christopher A.
Publicado 2010

CHMP1A encodes an essential regulator of BMI1-INK4A in cerebellar development

por Mochida, Ganeshwaran H., Ganesh, Vijay S., de Michelena, Maria I., Dias, Hugo, Atabay, Kutay D., Kathrein, Katie L., Huang, Emily, Hill, R. Sean, Felie, Jillian M., Rakiec, Daniel, Gleason, Danielle, Hill, Anthony D., Malik, Athar N., Barry, Brenda J., Partlow, Jennifer N., Tan, Wen-Hann, Glader, Laurie J., Barkovich, A. James, Dobyns, William B., Zon, Leonard I., Walsh, Christopher A.
Publicado 2012

TUBB3 Arg262His causes a recognizable syndrome including CFEOM3, facial palsy, joint contractures, and early-onset peripheral neuropathy

por Whitman, Mary C., Barry, Brenda J., Robson, Caroline D., Facio, Flavia M., Van Ryzin, Carol, Chan, Wai-Man, Lehky, Tanya J., Thurm, Audrey, Zalewski, Christopher, King, Kelly A., Brewer, Carmen, Almpani, Konstantinia, Lee, Janice S., Delaney, Angela, FitzGibbon, Edmond J., Lee, Paul R., Toro, Camilo, Paul, Scott M., Abdul-Rahman, Omar A., Webb, Bryn D., Jabs, Ethylin Wang, Moller, Hans Ulrik, Larsen, Dorte Ancher, Antony, Jayne H., Troedson, Christopher, Ma, Alan, Ragnhild, Glad, Wirgenes, Katrine V., Tham, Emma, Kvarnung, Malin, Maarup, Timothy James, MacKinnon, Sarah, Hunter, David G., Collins, Francis S., Manoli, Irini, Engle, Elizabeth C.
Publicado 2021

Noncoding variants alter GATA2 expression in rhombomere 4 motor neurons and cause dominant hereditary congenital facial paresis

por Tenney, Alan P., Di Gioia, Silvio Alessandro, Webb, Bryn D., Chan, Wai-Man, de Boer, Elke, Garnai, Sarah J., Barry, Brenda J., Ray, Tammy, Kosicki, Michael, Robson, Caroline D., Zhang, Zhongyang, Collins, Thomas E., Gelber, Alon, Pratt, Brandon M., Fujiwara, Yuko, Varshney, Arushi, Lek, Monkol, Warburton, Peter E., Van Ryzin, Carol, Lehky, Tanya J., Zalewski, Christopher, King, Kelly A., Brewer, Carmen C., Thurm, Audrey, Snow, Joseph, Facio, Flavia M., Narisu, Narisu, Bonnycastle, Lori L., Swift, Amy, Chines, Peter S., Bell, Jessica L., Mohan, Suresh, Whitman, Mary C., Staffieri, Sandra E., Elder, James E., Demer, Joseph L., Torres, Alcy, Rachid, Elza, Al-Haddad, Christiane, Boustany, Rose-Mary, Mackey, David A., Brady, Angela F., Fenollar-Cortés, María, Fradin, Melanie, Kleefstra, Tjitske, Padberg, George W., Raskin, Salmo, Sato, Mario Teruo, Orkin, Stuart H., Parker, Stephen C. J., Hadlock, Tessa A., Vissers, Lisenka E. L. M., van Bokhoven, Hans, Jabs, Ethylin Wang, Collins, Francis S., Pennacchio, Len A., Manoli, Irini, Engle, Elizabeth C.
Publicado 2023