The Congenital Heart Disease Genetic Network Study: Cohort description

by Hoang, Thanh T., Goldmuntz, Elizabeth, Roberts, Amy E., Chung, Wendy K., Kline, Jennie K, Deanfield, John E., Giardini, Alessandro, Aleman, Adolfo, Gelb, Bruce D., Neal, Meghan Mac, Porter, Jr., George A., Kim, Richard, Brueckner, Martina, Lifton, Richard P., Edman, Sharon, Woyciechowski, Stacy, Mitchel, Laura E., Agopian, A. J.
Published 2018

Modeling the mitochondrial cardiomyopathy of Barth syndrome with iPSC and heart-on-chip technologies

by Wang, Gang, McCain, Megan L., Yang, Luhan, He, Aibin, Pasqualini, Francesco Silvio, Agarwal, Ashutosh, Yuan, Hongyan, Jiang, Dawei, Zhang, Donghui, Zangi, Lior, Geva, Judith, Roberts, Amy E., Ma, Qing, Ding, Jian, Chen, Jinghai, Wang, Da-zhi, Li, Kai, Wang, Jiwu, Wanders, Ronald J. A., Kulik, Wim, Vaz, Frédéric M., Laflamme, Michael A., Murry, Charles E., Chien, Kenneth R., Kelley, Richard I., Church, George M., Parker, Kevin Kit, Pu, William T.
Published 2015

Contribution of rare inherited and de novo variants in 2,871 congenital heart disease probands

by Jin, Sheng Chih, Homsy, Jason, Zaidi, Samir, Lu, Qiongshi, Morton, Sarah, DePalma, Steven R., Zeng, Xue, Qi, Hongjian, Chang, Weni, Sierant, Michael C., Hung, Wei-Chien, Haider, Shozeb, Zhang, Junhui, Knight, James, Bjornson, Robert D., Castaldi, Christopher, Tikhonoa, Irina R., Bilguvar, Kaya, Mane, Shrikant M., Sanders, Stephan J., Mital, Seema, Russell, Mark, Gaynor, William, Deanfield, John, Giardini, Alessandro, Porter, George A., Srivastava, Deepak, Lo, Cecelia W., Shen, Yufeng, Watkins, W. Scott, Yandell, Mark, Yost, H. Joseph, Tristani-Firouzi, Martin, Newburger, Jane W., Roberts, Amy E., Kim, Richard, Zhao, Hongyu, Kaltman, Jonathan R., Goldmuntz, Elizabeth, Chung, Wendy K., Seidman, Jonathan G., Gelb, Bruce D., Seidman, Christine E., Lifton, Richard P., Brueckner, Martina
Published 2018

Dissecting spatio-temporal protein networks driving human heart development and related disorders

by Lage, Kasper, Møllgård, Kjeld, Greenway, Steven, Wakimoto, Hiroko, Gorham, Joshua M., Workman, Christopher T., Bendsen, Eske, Hansen, Niclas T., Rigina, Olga, Roque, Francisco S., Wiese, Cornelia, Christoffels, Vincent M., Roberts, Amy E., Smoot, Leslie B., Pu, William T., Donahoe, Patricia, Tommerup, Niels, Brunak, Søren, Seidman, Christine E., Seidman, Jonathan G., Larsen, Lars A.
Published 2011

Next-generation sequencing identifies rare variants associated with Noonan syndrome

by Chen, Peng-Chieh, Yin, Jiani, Yu, Hui-Wen, Yuan, Tao, Fernandez, Minerva, Yung, Christina K., Trinh, Quang M., Peltekova, Vanya D., Reid, Jeffrey G., Tworog-Dube, Erica, Morgan, Margaret B., Muzny, Donna M., Stein, Lincoln, McPherson, John D., Roberts, Amy E., Gibbs, Richard A., Neel, Benjamin G., Kucherlapati, Raju
Published 2019

Chromosome microarray testing for patients with congenital heart defects reveals novel disease causing loci and high diagnostic yield

by Geng, Juan, Picker, Jonathan, Zheng, Zhaojing, Zhang, Xiaoqing, Wang, Jian, Hisama, Fuki, Brown, David W, Mullen, Mary P, Harris, David, Stoler, Joan, Seman, Ann, Miller, David T, Fu, Qihua, Roberts, Amy E, Shen, Yiping
Published 2015

Neuropsychological Status and Structural Brain Imaging in Adolescents With Single Ventricle Who Underwent the Fontan Procedure

by Bellinger, David C., Watson, Christopher G., Rivkin, Michael J., Robertson, Richard L., Roberts, Amy E., Stopp, Christian, Dunbar‐Masterson, Carolyn, Bernson, Dana, DeMaso, David R., Wypij, David, Newburger, Jane W.
Published 2016

MATR3 disruption in human and mouse associated with bicuspid aortic valve, aortic coarctation and patent ductus arteriosus

by Quintero-Rivera, Fabiola, Xi, Qiongchao J., Keppler-Noreuil, Kim M., Lee, Ji Hyun, Higgins, Anne W., Anchan, Raymond M., Roberts, Amy E., Seong, Ihn Sik, Fan, Xueping, Lage, Kasper, Lu, Lily Y., Tao, Joanna, Hu, Xuchen, Berezney, Ronald, Gelb, Bruce D., Kamp, Anna, Moskowitz, Ivan P., Lacro, Ronald V., Lu, Weining, Morton, Cynthia C., Gusella, James F., Maas, Richard L.
Published 2015