Expanding the Spectrum of Rearrangements Involving Chromosome 19: A Mild Phenotype Associated with a 19p13.12–p13.13 Deletion

Por Marangi, Giuseppe, Orteschi, Daniela, Vigevano, Federico, Felie, Jillian, Walsh, Christopher A, Manzini, M Chiara, Neri, Giovanni
Publicado em 2012

Expression and localization of Na-Driven [Formula: see text] exchanger (SLC4A8) in rodent central nervous system

Por Chen, Li-Ming, Kelly, Michelle L., Parker, Mark D., Bouyer, Patrice, Gill, Harindarpal S., Felie, Jillian M., Davis, Bruce A., Boron, Walter F.
Publicado em 2008

Human Mutations in NDE1 Cause Extreme Microcephaly with Lissencephaly

Por Alkuraya, Fowzan S., Cai, Xuyu, Emery, Carina, Mochida, Ganeshwaran H., Al-Dosari, Mohammed S., Felie, Jillian M., Hill, R. Sean, Barry, Brenda J., Partlow, Jennifer N., Gascon, Generoso G., Kentab, Amal, Jan, Mohammad, Shaheen, Ranad, Feng, Yuanyi, Walsh, Christopher A.
Publicado em 2011

Human Mutations in NDE1 Cause Extreme Microcephaly with Lissencephaly

Por Alkuraya, Fowzan S., Cai, Xuyu, Emery, Carina, Mochida, Ganeshwaran H., Al-Dosari, Mohammed S., Felie, Jillian M., Hill, R. Sean, Barry, Brenda J., Partlow, Jennifer N., Gascon, Generoso G., Kentab, Amal, Jan, Mohammad, Shaheen, Ranad, Feng, Yuanyi, Walsh, Christopher A.
Publicado em 2011

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 em 2010

A Homozygous Mutation in the Tight-Junction Protein JAM3 Causes Hemorrhagic Destruction of the Brain, Subependymal Calcification, and Congenital Cataracts

Por Mochida, Ganeshwaran H., Ganesh, Vijay S., Felie, Jillian M., Gleason, Danielle, Hill, R. Sean, Clapham, Katie Rose, Rakiec, Daniel, Tan, Wen-Hann, Akawi, Nadia, Al-Saffar, Muna, Partlow, Jennifer N., Tinschert, Sigrid, Barkovich, A. James, Ali, Bassam, Al-Gazali, Lihadh, Walsh, Christopher A.
Publicado em 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 em 2012

METTL23, a transcriptional partner of GABPA, is essential for human cognition

Por Reiff, Rachel E., Ali, Bassam R., Baron, Byron, Yu, Timothy W., Ben-Salem, Salma, Coulter, Michael E., Schubert, Christian R., Hill, R. Sean, Akawi, Nadia A., Al-Younes, Banan, Kaya, Namik, Evrony, Gilad D., Al-Saffar, Muna, Felie, Jillian M., Partlow, Jennifer N., Sunu, Christine M., Schembri-Wismayer, Pierre, Alkuraya, Fowzan S., Meyer, Brian F., Walsh, Christopher A., Al-Gazali, Lihadh, Mochida, Ganeshwaran H.
Publicado em 2014