Association of Common Variants in ERBB4 with Congenital Left Ventricular Outflow Tract Obstruction Defects

por McBride, Kim L., Zender, Gloria A., Fitzgerald–Butt, Sara M., Seagraves, Nikki J., Fernbach, Susan D., Zapata, Gladys, Lewin, Mark, Towbin, Jeffrey A., Belmont, John W.
Publicado em 2011

SNP genotyping to screen for a common deletion in CHARGE Syndrome

por Lalani, Seema R, Safiullah, Arsalan M, Fernbach, Susan D, Phillips, Michael, Bacino, Carlos A, Molinari, Laura M, Glass, Nancy L, Towbin, Jeffrey A, Craigen, William J, Belmont, John W
Publicado em 2005

Identification and functional characterization of NODAL rare variants in heterotaxy and isolated cardiovascular malformations

por Mohapatra, Bhagyalaxmi, Casey, Brett, Li, Hua, Ho-Dawson, Trang, Smith, Liana, Fernbach, Susan D., Molinari, Laura, Niesh, Stephen R., Jefferies, John Lynn, Craigen, William J., Towbin, Jeffrey A., Belmont, John W., Ware, Stephanie M.
Publicado em 2009

An exome sequencing study of Moebius syndrome including atypical cases reveals an individual with CFEOM3A and a TUBB3 mutation

por Patel, Ronak M., Liu, David, Gonzaga-Jauregui, Claudia, Jhangiani, Shalini, Lu, James T., Sutton, V. Reid, Fernbach, Susan D., Azamian, Mahshid, White, Lisa, Edmond, Jane C., Paysse, Evelyn A., Belmont, John W., Muzny, Donna, Lupski, James R., Gibbs, Richard A., Lewis, Richard Alan, Lee, Brendan H., Lalani, Seema R., Campeau, Philippe M.
Publicado no Cold Spring Harb Mol Case Stud (2017)

Spectrum of CHD7 Mutations in 110 Individuals with CHARGE Syndrome and Genotype-Phenotype Correlation

por Lalani, Seema R., Safiullah, Arsalan M., Fernbach, Susan D., Harutyunyan, Karine G., Thaller, Christina, Peterson, Leif E., McPherson, John D., Gibbs, Richard A., White, Lisa D., Hefner, Margaret, Davenport, Sandra L. H., Graham, John M., Bacino, Carlos A., Glass, Nancy L., Towbin, Jeffrey A., Craigen, William J., Neish, Steven R., Lin, Angela E., Belmont, John W.
Publicado em 2006

MCTP2 is a dosage-sensitive gene required for cardiac outflow tract development

por Lalani, Seema R., Ware, Stephanie M., Wang, Xueqing, Zapata, Gladys, Tian, Qi, Franco, Luis M., Jiang, Zhengxin, Bucasas, Kristine, Scott, Daryl A., Campeau, Philippe M., Hanchard, Neil, Umaña, Luis, Cast, Ashley, Patel, Ankita, Cheung, Sau W., McBride, Kim L., Bray, Molly, Craig Chinault, A., Boggs, Barbara A., Huang, Miao, Baker, Mariah R., Hamilton, Susan, Towbin, Jeff, Jefferies, John L., Fernbach, Susan D., Potocki, Lorraine, Belmont, John W.
Publicado em 2013