Zoom‐in comparative genomic hybridisation arrays for the characterisation of variable breakpoint contiguous gene syndromes

Por Johnston, Jennifer J, Walker, Robert L, Davis, Sean, Facio, Flavia, Turner, Joyce T, Bick, David P, Daentl, Donna L, Ellison, Jay W, Meltzer, Paul S, Biesecker, Leslie G
Publicado em 2007

Experience with microarray-based comparative genomic hybridization for prenatal diagnosis in over 5000 pregnancies

Por Shaffer, Lisa G, Dabell, Mindy P, Fisher, Allan J, Coppinger, Justine, Bandholz, Anne M, Ellison, Jay W, Ravnan, J Britt, Torchia, Beth S, Ballif, Blake C, Rosenfeld, Jill A
Publicado em 2012

Detection rates of clinically significant genomic alterations by microarray analysis for specific anomalies detected by ultrasound

Por Shaffer, Lisa G, Rosenfeld, Jill A, Dabell, Mindy P, Coppinger, Justine, Bandholz, Anne M, Ellison, Jay W, Ravnan, J Britt, Torchia, Beth S, Ballif, Blake C, Fisher, Allan J
Publicado em 2012

Mouse model implicates GNB3 duplication in a childhood obesity syndrome

Por Goldlust, Ian S., Hermetz, Karen E., Catalano, Lisa M., Barfield, Richard T., Cozad, Rebecca, Wynn, Grace, Ozdemir, Alev Cagla, Conneely, Karen N., Mulle, Jennifer G., Dharamrup, Shikha, Hegde, Madhuri R., Kim, Katherine H., Angle, Brad, Colley, Alison, Webb, Amy E., Thorland, Erik C., Ellison, Jay W., Rosenfeld, Jill A., Ballif, Blake C., Shaffer, Lisa G., Demmer, Laurie A., Rudd, M. Katharine, Searle, Beverly A, Wynn, Sarah L.
Publicado em 2013

Recurrent HERV-H-Mediated 3q13.2q13.31 Deletions Cause a Syndrome of Hypotonia and Motor, Language, and Cognitive Delays

Por Shuvarikov, Andrey, Campbell, Ian M., Dittwald, Piotr, Neill, Nicholas J., Bialer, Martin G., Moore, Christine, Wheeler, Patricia G., Wallace, Stephanie E., Hannibal, Mark C., Murray, Michael F., Giovanni, Monica A., Terespolsky, Deborah, Sodhi, Sandi, Cassina, Matteo, Viskochil, David, Moghaddam, Billur, Herman, Kristin, Brown, Chester, Gambin, Anna, Cheung, Sau Wai, Patel, Ankita, Lamb, Allen N., Shaffer, Lisa G., Ellison, Jay W., Ravnan, J. Britt, Stankiewicz, Paweł, Rosenfeld, Jill A.
Publicado no Hum Mutat (2013)

PIAS4 is associated with macro/microcephaly in the novel interstitial 19p13.3 microdeletion/microduplication syndrome

Por Nevado, Julián, Rosenfeld, Jill A, Mena, Rocío, Palomares-Bralo, María, Vallespín, Elena, Ángeles Mori, María, Tenorio, Jair A, Gripp, Karen W, Denenberg, Elizabeth, del Campo, Miguel, Plaja, Alberto, Martín-Arenas, Rubén, Santos-Simarro, Fernando, Armengol, Lluis, Gowans, Gordon, Orera, María, Sanchez-Hombre, M Carmen, Corbacho-Fernández, Esther, Fernández-Jaén, Alberto, Haldeman-Englert, Chad, Saitta, Sulagna, Dubbs, Holly, Bénédicte, Duban B, Li, Xia, Devaney, Lani, Dinulos, Mary Beth, Vallee, Stephanie, Crespo, M Carmen, Fernández, Blanca, Fernández-Montaño, Victoria E, Rueda-Arenas, Inmaculada, de Torres, María Luisa, Ellison, Jay W, Raskin, Salmo, Venegas-Vega, Carlos A, Fernández-Ramírez, Fernando, Delicado, Alicia, García-Miñaúr, Sixto, Lapunzina, Pablo
Publicado no Eur J Hum Genet (2015)