Deletion of an enhancer near DLX5 and DLX6 in a family with hearing loss, craniofacial defects, and an inv(7)(q21.3q35)

von Brown, Kerry K., Reiss, Jacob A., Crow, Kate, Ferguson, Heather L., Kelly, Chantal, Fritzsch, Bernd, Morton, Cynthia C.
Veröffentlicht 2010

NFIA Haploinsufficiency Is Associated with a CNS Malformation Syndrome and Urinary Tract Defects

von Lu, Weining, Quintero-Rivera, Fabiola, Fan, Yanli, Alkuraya, Fowzan S, Donovan, Diana J, Xi, Qiongchao, Turbe-Doan, Annick, Li, Qing-Gang, Campbell, Craig G, Shanske, Alan L, Sherr, Elliott H, Ahmad, Ayesha, Peters, Roxana, Rilliet, Benedict, Parvex, Paloma, Bassuk, Alexander G, Harris, David J, Ferguson, Heather, Kelly, Chantal, Walsh, Christopher A, Gronostajski, Richard M, Devriendt, Koenraad, Higgins, Anne, Ligon, Azra H, Quade, Bradley J, Morton, Cynthia C, Gusella, James F, Maas, Richard L
Veröffentlicht 2007

Characterization of Apparently Balanced Chromosomal Rearrangements from the Developmental Genome Anatomy Project

von Higgins, Anne W., Alkuraya, Fowzan S., Bosco, Amy F., Brown, Kerry K., Bruns, Gail A.P., Donovan, Diana J., Eisenman, Robert, Fan, Yanli, Farra, Chantal G., Ferguson, Heather L., Gusella, James F., Harris, David J., Herrick, Steven R., Kelly, Chantal, Kim, Hyung-Goo, Kishikawa, Shotaro, Korf, Bruce R., Kulkarni, Shashikant, Lally, Eric, Leach, Natalia T., Lemyre, Emma, Lewis, Janine, Ligon, Azra H., Lu, Weining, Maas, Richard L., MacDonald, Marcy E., Moore, Steven D.P., Peters, Roxanna E., Quade, Bradley J., Quintero-Rivera, Fabiola, Saadi, Irfan, Shen, Yiping, Shendure, Jay, Williamson, Robin E., Morton, Cynthia C.
Veröffentlicht 2008

Characterization of Apparently Balanced Chromosomal Rearrangements from the Developmental Genome Anatomy Project

von Higgins, Anne W., Alkuraya, Fowzan S., Bosco, Amy F., Brown, Kerry K., Bruns, Gail A.P., Donovan, Diana J., Eisenman, Robert, Fan, Yanli, Farra, Chantal G., Ferguson, Heather L., Gusella, James F., Harris, David J., Herrick, Steven R., Kelly, Chantal, Kim, Hyung-Goo, Kishikawa, Shotaro, Korf, Bruce R., Kulkarni, Shashikant, Lally, Eric, Leach, Natalia T., Lemyre, Emma, Lewis, Janine, Ligon, Azra H., Lu, Weining, Maas, Richard L., MacDonald, Marcy E., Moore, Steven D.P., Peters, Roxanna E., Quade, Bradley J., Quintero-Rivera, Fabiola, Saadi, Irfan, Shen, Yiping, Shendure, Jay, Williamson, Robin E., Morton, Cynthia C.
Veröffentlicht 2008