Cardiomyopathies in Noonan syndrome and the other RASopathies

Por Gelb, Bruce D., Roberts, Amy E., Tartaglia, Marco
Publicado no Prog Pediatr Cardiol (2015)

Heart Failure in Congenital Heart Disease: A confluence of acquired and congenital

Por Fahed, Akl C., Roberts, Amy E., Mital, Seema, Lakdawala, Neal K.
Publicado em 2014

Noonan syndrome

Por Roberts, Amy E, Allanson, Judith E, Tartaglia, Marco, Gelb, Bruce D
Publicado no Lancet (2013)

Genotype differences in cognitive functioning in Noonan syndrome

Por Pierpont, Elizabeth I., Pierpont, Mary Ella, Mendelsohn, Nancy J., Roberts, Amy E., Tworog-Dube, Erica, Seidenberg, Mark S.
Publicado em 2008

A SUGGESTED ROLE FOR MITOCHONDRIA IN NOONAN SYNDROME

Por Lee, Icksoo, Pecinova, Alena, Pecina, Petr, Neel, Benjamin G., Araki, Toshiyuki, Kucherlapati, Raju, Roberts, Amy E., Huttemann, Maik
Publicado em 2009

The Language Phenotype of Children and Adolescents With Noonan Syndrome

Por Pierpont, Elizabeth I., Weismer, Susan Ellis, Roberts, Amy E., Tworog-Dube, Erica, Pierpont, Mary Ella, Mendelsohn, Nancy J., Seidenberg, Mark S.
Publicado em 2010

Effects of Germline Mutations in the Ras/MAPK Signaling Pathway on Adaptive Behavior: Cardiofaciocutaneous Syndrome and Noonan Syndrome

Por Pierpont, Elizabeth I., Pierpont, Mary Ella, Mendelsohn, Nancy J., Roberts, Amy E., Tworog-Dube, Erica, Rauen, Katherine A., Seidenberg, Mark S.
Publicado em 2010

Shared Genetic Causes of Cardiac Hypertrophy in Children and Adults

Por Morita, Hiroyuki, Rehm, Heidi L., Menesses, Andres, McDonough, Barbara, Roberts, Amy E., Kucherlapati, Raju, Towbin, Jeffrey A., Seidman, J.G., Seidman, Christine E.
Publicado em 2008

Novel Presentation of Omenn Syndrome in Association with Aniridia

Por Sheehan, William J., Delmonte, Ottavia M., Miller, David T., Roberts, Amy E., Bonilla, Francisco A., Morra, Massimo, Giliani, Silvia, Pai, Sung-Yun, Notarangelo, Luigi D., Oettgen, Hans C.
Publicado em 2009

TFAP2A Mutations Result in Branchio-Oculo-Facial Syndrome

Por Milunsky, Jeff M., Maher, Tom A., Zhao, Geping, Roberts, Amy E., Stalker, Heather J., Zori, Roberto T., Burch, Michelle N., Clemens, Michele, Mulliken, John B., Smith, Rosemarie, Lin, Angela E.
Publicado em 2008

TFAP2A Mutations Result in Branchio-Oculo-Facial Syndrome

Por Milunsky, Jeff M., Maher, Tom A., Zhao, Geping, Roberts, Amy E., Stalker, Heather J., Zori, Roberto T., Burch, Michelle N., Clemens, Michele, Mulliken, John B., Smith, Rosemarie, Lin, Angela E.
Publicado em 2009

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

Por 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.
Publicado no J Am Heart Assoc (2015)

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

Por 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
Publicado no BMC Genomics (2014)

Cardio-Facio-Cutaneous Syndrome: Clinical Features, Diagnosis, and Management Guidelines

Por Pierpont, Mary Ella M., Magoulas, Pilar L., Adi, Saleh, Kavamura, Maria Ines, Neri, Giovanni, Noonan, Jacqueline, Pierpont, Elizabeth I., Reinker, Kent, Roberts, Amy E., Shankar, Suma, Sullivan, Joseph, Wolford, Melinda, Conger, Brenda, Santa Cruz, Molly, Rauen, Katherine A.
Publicado em 2014

Genetic Testing for Dilated Cardiomyopathy in Clinical Practice

Por Lakdawala, Neal K., Funke, Birgit H., Baxter, Samantha, Cirino, Allison L., Roberts, Amy E., Judge, Daniel P., Johnson, Nicole, Mendelsohn, Nancy J., Morel, Chantal, Care, Melanie, Chung, Wendy K., Jones, Carolyn, Psychogios, Apostolos, Duffy, Elizabeth, Rehm, Heidi L., White, Emily, Seidman, J.G., Seidman, Christine E., Ho, Carolyn Y.
Publicado em 2012

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

Por 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 K, Tommerup, Niels, Brunak, Søren, Seidman, Christine E, Seidman, Jonathan G, Larsen, Lars A
Publicado em 2010

Next-generation sequencing identifies rare variants associated with Noonan syndrome

Por 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
Publicado em 2014

Genetic and environmental risk factors in congenital heart disease functionally converge in protein networks driving heart development

Por Lage, Kasper, Greenway, Steven C., Rosenfeld, Jill A., Wakimoto, Hiroko, Gorham, Joshua M., Segrè, Ayellet V., Roberts, Amy E., Smoot, Leslie B., Pu, William T., C. Pereira, Alexandre, Mesquita, Sonia M., Tommerup, Niels, Brunak, Søren, Ballif, Blake C., Shaffer, Lisa G., Donahoe, Patricia K., Daly, Mark J., Seidman, Jonathan G., Seidman, Christine E., Larsen, Lars A.
Publicado em 2012

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

Por 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.
Publicado no Hum Mol Genet (2015)

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

Por 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.
Publicado em 2014