Genes and biological processes commonly disrupted in rare and heterogeneous developmental delay syndromes

Por Shaikh, Tamim H., Haldeman-Englert, Chad, Geiger, Elizabeth A., Ponting, Chris P., Webber, Caleb
Publicado em 2011

An Individual with Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome (BPES) and Additional Features Expands the Phenotype Associated with Mutations in KAT6B

Por Yu, Hung-Chun, Geiger, Elizabeth A., Medne, Livija, Zackai, Elaine H., Shaikh, Tamim H.
Publicado no Am J Med Genet A (2014)

Hcfc1b, a zebrafish ortholog of HCFC1, regulates craniofacial development by modulating mmachc expression

Por Quintana, Anita M., Geiger, Elizabeth A., Achilly, Nate, Rosenblatt, David S., Maclean, Kenneth N., Stabler, Sally P., Artinger, Kristin B., Appel, Bruce, Shaikh, Tamim H.
Publicado no Dev Biol (2014)

A 781-kb Deletion of 13q12.3 in a Patient with Peters Plus Syndrome

Por Haldeman-Englert, Chad R., Naeem, Taiyabah, Geiger, Elizabeth A., Warnock, Ashley, Feret, Holly, Ciano, Melissa, Davidson, Stefanie L., Deardorff, Matthew A., Zackai, Elaine H., Shaikh, Tamim H.
Publicado em 2009

Discovery of a potentially deleterious variant in TMEM87B in a patient with a hemizygous 2q13 microdeletion suggests a recessive condition characterized by congenital heart disease...

Por Yu, Hung-Chun, Coughlin, Curtis R., Geiger, Elizabeth A., Salvador, Blake J., Elias, Ellen R., Cavanaugh, Jean L., Chatfield, Kathryn C., Miyamoto, Shelley D., Shaikh, Tamim H.
Publicado no Cold Spring Harb Mol Case Stud (2016)

Kabuki syndrome genes KMT2D and KDM6A: functional analyses demonstrate critical roles in craniofacial, heart and brain development

Por Van Laarhoven, Peter M., Neitzel, Leif R., Quintana, Anita M, Geiger, Elizabeth A., Zackai, Elaine H., Clouthier, David E., Artinger, Kristin B., Ming, Jeffrey E., Shaikh, Tamim H.
Publicado no Hum Mol Genet (2015)

A de novo 8.8-Mb Deletion of 21q21.1-q21.3 in an Autistic Male with a Complex Rearrangement Involving Chromosomes 6, 10, and 21

Por Haldeman-Englert, Chad R., Chapman, Kimberly A., Kruger, Hillary, Geiger, Elizabeth A., McDonald-McGinn, Donna M., Rappaport, Eric, Zackai, Elaine H., Spinner, Nancy B., Shaikh, Tamim H.
Publicado em 2010

A 3.1 Mb Microdeletion of 3p21.31 Associated with Cortical Blindness, Cleft Lip, CNS Abnormalities, and Developmental Delay

Por Haldeman-Englert, Chad R., Gai, Xiaowu, Perin, Juan Carlos, Ciano, Melissa, Halbach, Sara S., Geiger, Elizabeth A., McDonald-McGinn, Donna M., Hakonarson, Hakon, Zackai, Elaine H., Shaikh, Tamim H.
Publicado no Eur J Med Genet (2008)

An X-Linked Cobalamin Disorder Caused by Mutations in Transcriptional Coregulator HCFC1

Por Yu, Hung-Chun, Sloan, Jennifer L., Scharer, Gunter, Brebner, Alison, Quintana, Anita M., Achilly, Nathan P., Manoli, Irini, Coughlin, Curtis R., Geiger, Elizabeth A., Schneck, Una, Watkins, David, Suormala, Terttu, Van Hove, Johan L.K., Fowler, Brian, Baumgartner, Matthias R., Rosenblatt, David S., Venditti, Charles P., Shaikh, Tamim H.
Publicado em 2013

Copy number variation at 1q21.1 associated with neuroblastoma

Por Diskin, Sharon J., Hou, Cuiping, Glessner, Joseph T., Attiyeh, Edward F., Laudenslager, Marci, Bosse, Kristopher, Cole, Kristina, Mosse, Yael P., Wood, Andrew, Lynch, Jill E., Pecor, Katlyn, Diamond, Maura, Winter, Cynthia, Wang, Kai, Kim, Cecilia, Geiger, Elizabeth A., McGrady, Patrick W., Blakemore, Alexandra I. F., London, Wendy B., Shaikh, Tamim H., Bradfield, Jonathan, Grant, Struan F. A., Li, Hongzhe, Devoto, Marcella, Rappaport, Eric R., Hakonarson, Hakon, Maris, John M.
Publicado em 2009

High-resolution mapping and analysis of copy number variations in the human genome: A data resource for clinical and research applications

Por Shaikh, Tamim H., Gai, Xiaowu, Perin, Juan C., Glessner, Joseph T., Xie, Hongbo, Murphy, Kevin, O'Hara, Ryan, Casalunovo, Tracy, Conlin, Laura K., D'Arcy, Monica, Frackelton, Edward C., Geiger, Elizabeth A., Haldeman-Englert, Chad, Imielinski, Marcin, Kim, Cecilia E., Medne, Livija, Annaiah, Kiran, Bradfield, Jonathan P., Dabaghyan, Elvira, Eckert, Andrew, Onyiah, Chioma C., Ostapenko, Svetlana, Otieno, F. George, Santa, Erin, Shaner, Julie L., Skraban, Robert, Smith, Ryan M., Elia, Josephine, Goldmuntz, Elizabeth, Spinner, Nancy B., Zackai, Elaine H., Chiavacci, Rosetta M., Grundmeier, Robert, Rappaport, Eric F., Grant, Struan F.A., White, Peter S., Hakonarson, Hakon
Publicado em 2009