Retrospective Analysis of Clinical Genetic Testing in Pediatric Primary Dilated Cardiomyopathy: Testing Outcomes and the Effects of Variant Reclassification

por Quiat, Daniel, Witkowski, Leora, Zouk, Hana, Daly, Kevin P., Roberts, Amy E.
Publicado 2020

Clinical Syndromic Phenotypes and the Potential Role of Genetics in Pulmonary Vein Stenosis

por Zaidi, Abbas H., Yamada, Jessica M., Miller, David T., McEnaney, Kerry, Ireland, Christina, Roberts, Amy E., Gauvreau, Kimberlee, Jenkins, Kathy J., Chen, Ming Hui
Publicado 2021

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 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 2014

Infantile epileptic spasms syndrome in children with cardiofaciocutanous syndrome: Clinical presentation and associations with genotype

por Kenney‐Jung, Daniel L., Rogers, Dante J., Kroening, Samuel J., Zatkalik, Abigail L., Whitmarsh, Ashley E., Roberts, Amy E., Zenker, Martin, Gambardella, Maria Luigia, Contaldo, Ilaria, Leoni, Chiara, Onesimo, Roberta, Zampino, Giuseppe, Tartaglia, Marco, Battaglia, Domenica I., Pierpont, Elizabeth I.
Publicado 2022

The Congenital Heart Disease Genetic Network Study: Cohort description

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

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 2010

Perspectives of Rare Disease Experts on Newborn Genome Sequencing

por Gold, Nina B., Adelson, Sophia M., Shah, Nidhi, Williams, Shardae, Bick, Sarah L., Zoltick, Emilie S., Gold, Jessica I., Strong, Alanna, Ganetzky, Rebecca, Roberts, Amy E., Walker, Melissa, Holtz, Alexander M., Sankaran, Vijay G., Delmonte, Ottavia, Tan, Weizhen, Holm, Ingrid A., Thiagarajah, Jay R., Kamihara, Junne, Comander, Jason, Place, Emily, Wiggs, Janey, Green, Robert C.
Publicado 2023

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 2015

Systems Analysis Implicates WAVE2 Complex in the Pathogenesis of Developmental Left-Sided Obstructive Heart Defects

por Edwards, Jonathan J., Rouillard, Andrew D., Fernandez, Nicolas F., Wang, Zichen, Lachmann, Alexander, Shankaran, Sunita S., Bisgrove, Brent W., Demarest, Bradley, Turan, Nahid, Srivastava, Deepak, Bernstein, Daniel, Deanfield, John, Giardini, Alessandro, Porter, George, Kim, Richard, Roberts, Amy E., Newburger, Jane W., Goldmuntz, Elizabeth, Brueckner, Martina, Lifton, Richard P., Seidman, Christine E., Chung, Wendy K., Tristani-Firouzi, Martin, Yost, H. Joseph, Ma’ayan, Avi, Gelb, Bruce D.
Publicado 2020

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 2014

De Novo Damaging Variants, Clinical Phenotypes, and Post-Operative Outcomes in Congenital Heart Disease

por Boskovski, Marko T., Homsy, Jason, Nathan, Meena, Sleeper, Lynn A., Morton, Sarah, Manheimer, Kathryn B., Tai, Angela, Gorham, Joshua, Lewis, Matthew, Swartz, Michael, Alfieris, George M., Bacha, Emile A., Karimi, Mohsen, Meyer, David, Nguyen, Khanh, Bernstein, Daniel, Romano-Adesman, Angela, Porter, George A., Goldmuntz, Elizabeth, Chung, Wendy K., Srivastava, Deepak, Kaltman, Jonathan R., Tristani-Firouzi, Martin, Lifton, Richard, Roberts, Amy E., Gaynor, J. William, Gelb, Bruce D., Kim, Richard, Seidman, Jonathan G., Brueckner, Martina, Mayer, John E., Newburger, Jane W., Seidman, Christine E.
Publicado 2020

Association of Potentially Damaging De Novo Gene Variants With Neurologic Outcomes in Congenital Heart Disease

por Morton, Sarah U., Norris-Brilliant, Ami, Cunningham, Sean, King, Eileen, Goldmuntz, Elizabeth, Brueckner, Martina, Miller, Thomas A., Thomas, Nina H., Liu, Chunyan, Adams, Heather R., Bellinger, David C., Cleveland, John, Cnota, James F., Dale, Anders M., Frommelt, Michele, Gelb, Bruce D., Grant, P. Ellen, Goldberg, Caren S., Huang, Hao, Kuperman, Joshua M., Li, Jennifer S., McQuillen, Patrick S., Panigrahy, Ashok, Porter, George A., Roberts, Amy E., Russell, Mark W., Seidman, Christine E., Tivarus, Madalina E., Anagnoustou, Evdokia, Hagler, Donald J., Chung, Wendy K., Newburger, Jane W.
Publicado 2023

The seventh international RASopathies symposium: Pathways to a cure—expanding knowledge, enhancing research, and therapeutic discovery

por Kontaridis, Maria I., Roberts, Amy E., Schill, Lisa, Schoyer, Lisa, Stronach, Beth, Andelfinger, Gregor, Aoki, Yoko, Axelrad, Marni E., Bakker, Annette, Bennett, Anton M., Broniscer, Alberto, Castel, Pau, Chang, Caitlin A., Cyganek, Lukas, Das, Tirtha K., den Hertog, Jeroen, Galperin, Emilia, Garg, Shruti, Gelb, Bruce D., Gordon, Kristiana, Green, Tamar, Gripp, Karen W., Itkin, Maxim, Kiuru, Maija, Korf, Bruce R., Livingstone, Jeff R., López‐Juárez, Alejandro, Magoulas, Pilar L., Mansour, Sahar, Milner, Theresa, Parker, Elisabeth, Pierpont, Elizabeth I., Plouffe, Kevin, Rauen, Katherine A., Shankar, Suma P., Smith, Shane B., Stevenson, David A., Tartaglia, Marco, Van, Richard, Wagner, Morgan E., Ware, Stephanie M., Zenker, Martin
Publicado 2022

Activating mutations in RRAS underlie a phenotype within the RASopathy spectrum and contribute to leukaemogenesis

por Flex, Elisabetta, Jaiswal, Mamta, Pantaleoni, Francesca, Martinelli, Simone, Strullu, Marion, Fansa, Eyad K., Caye, Aurélie, De Luca, Alessandro, Lepri, Francesca, Dvorsky, Radovan, Pannone, Luca, Paolacci, Stefano, Zhang, Si-Cai, Fodale, Valentina, Bocchinfuso, Gianfranco, Rossi, Cesare, Burkitt-Wright, Emma M.M., Farrotti, Andrea, Stellacci, Emilia, Cecchetti, Serena, Ferese, Rosangela, Bottero, Lisabianca, Castro, Silvana, Fenneteau, Odile, Brethon, Benoît, Sanchez, Massimo, Roberts, Amy E., Yntema, Helger G., Van Der Burgt, Ineke, Cianci, Paola, Bondeson, Marie-Louise, Cristina Digilio, Maria, Zampino, Giuseppe, Kerr, Bronwyn, Aoki, Yoko, Loh, Mignon L., Palleschi, Antonio, Di Schiavi, Elia, Carè, Alessandra, Selicorni, Angelo, Dallapiccola, Bruno, Cirstea, Ion C., Stella, Lorenzo, Zenker, Martin, Gelb, Bruce D., Cavé, Hélène, Ahmadian, Mohammad R., Tartaglia, Marco
Publicado 2014

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

por 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
Publicado 2017

Genome-Wide Association Study to Find Modifiers for Tetralogy of Fallot in the 22q11.2 Deletion Syndrome Identifies Variants in the GPR98 Locus on 5q14.3

por Guo, Tingwei, Repetto, Gabriela M., McDonald McGinn, Donna M., Chung, Jonathan H., Nomaru, Hiroko, Campbell, Christopher L., Blonska, Anna, Bassett, Anne S., Chow, Eva W.C., Mlynarski, Elisabeth E., Swillen, Ann, Vermeesch, Joris, Devriendt, Koen, Gothelf, Doron, Carmel, Miri, Michaelovsky, Elena, Schneider, Maude, Eliez, Stephan, Antonarakis, Stylianos E., Coleman, Karlene, Tomita-Mitchell, Aoy, Mitchell, Michael E., Digilio, M. Cristina, Dallapiccola, Bruno, Marino, Bruno, Philip, Nicole, Busa, Tiffany, Kushan-Wells, Leila, Bearden, Carrie E., Piotrowicz, Małgorzata, Hawuła, Wanda, Roberts, Amy E., Tassone, Flora, Simon, Tony J., van Duin, Esther D.A., van Amelsvoort, Thérèse A., Kates, Wendy R., Zackai, Elaine, Johnston, H. Richard, Cutler, David J., Agopian, A.J., Goldmuntz, Elizabeth, Mitchell, Laura E., Wang, Tao, Emanuel, Beverly S., Morrow, Bernice E.
Publicado 2017