Single-Cell, Genome-wide Sequencing Identifies Clonal Somatic Copy-Number Variation in the Human Brain

Por Cai, Xuyu, Evrony, Gilad D., Lehmann, Hillel S., Elhosary, Princess C., Mehta, Bhaven K., Poduri, Annapurna, Walsh, Christopher A.
Publicado no Cell Rep (2014)

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 em 2010

Mutations in PYCR2, Encoding Pyrroline-5-Carboxylate Reductase 2, Cause Microcephaly and Hypomyelination

Por Nakayama, Tojo, Al-Maawali, Almundher, El-Quessny, Malak, Rajab, Anna, Khalil, Samir, Stoler, Joan M., Tan, Wen-Hann, Nasir, Ramzi, Schmitz-Abe, Klaus, Hill, R. Sean, Partlow, Jennifer N., Al-Saffar, Muna, Servattalab, Sarah, LaCoursiere, Christopher M., Tambunan, Dimira E., Coulter, Michael E., Elhosary, Princess C., Gorski, Grzegorz, Barkovich, A. James, Markianos, Kyriacos, Poduri, Annapurna, Mochida, Ganeshwaran H.
Publicado no Am J Hum Genet (2015)

Integrated genome and transcriptome sequencing identifies a noncoding mutation in the genome replication factor DONSON as the cause of microcephaly-micromelia syndrome

Por Evrony, Gilad D., Cordero, Dwight R., Shen, Jun, Partlow, Jennifer N., Yu, Timothy W., Rodin, Rachel E., Hill, R. Sean, Coulter, Michael E., Lam, Anh-Thu N., Jayaraman, Divya, Gerrelli, Dianne, Diaz, Diana G., Santos, Chloe, Morrison, Victoria, Galli, Antonella, Tschulena, Ulrich, Wiemann, Stefan, Martel, M. Jocelyne, Spooner, Betty, Ryu, Steven C., Elhosary, Princess C., Richardson, Jillian M., Tierney, Danielle, Robinson, Christopher A., Chibbar, Rajni, Diudea, Dana, Folkerth, Rebecca, Wiebe, Sheldon, Barkovich, A. James, Mochida, Ganeshwaran H., Irvine, James, Lemire, Edmond G., Blakley, Patricia, Walsh, Christopher A.
Publicado no Genome Res (2017)