The Current Landscape of Genetic Testing in Cardiovascular Malformations: Opportunities and Challenges

por Landis, Benjamin J., Ware, Stephanie M.
Publicado 2016

Heterotaxy-spectrum heart defects in Zic3 hypomorphic mice

por Haaning, Allison M., Quinn, Malgorzata E., Ware, Stephanie M.
Publicado 2013

Genetic Evaluation of Inpatient Neonatal and Infantile Congenital Heart Defects: New Findings and Review of the Literature

por Helm, Benjamin M., Landis, Benjamin J., Ware, Stephanie M.
Publicado 2021

Identification of a Novel ZIC3 Isoform and Mutation Screening in Patients with Heterotaxy and Congenital Heart Disease

por Bedard, James E. J., Haaning, Allison M., Ware, Stephanie M.
Publicado 2011

Septal contributions to olfactory bulb interneuron diversity in the embryonic mouse telencephalon: role of the homeobox gene Gsx2

por Qin, Shenyue, Ware, Stephanie M., Waclaw, Ronald R., Campbell, Kenneth
Publicado 2017

Molecular Characterization of Pediatric Restrictive Cardiomyopathy from Integrative Genomics

por Rindler, Tara N., Hinton, Robert B., Salomonis, Nathan, Ware, Stephanie M.
Publicado 2017

SHROOM3 is a novel candidate for heterotaxy identified by whole exome sequencing

por Tariq, Muhammad, Belmont, John W, Lalani, Seema, Smolarek, Teresa, Ware, Stephanie M
Publicado 2011

Single cell RNA analysis of the left–right organizer transcriptome reveals potential novel heterotaxy genes

por Bellchambers, Helen M., Phatak, Amruta R., Nenni, Mardi J., Padua, Maria B., Gao, Hongyu, Liu, Yunlong, Ware, Stephanie M.
Publicado 2023

Novel phenotype of 5p13.3-q11.2 duplication resulting from supernumerary marker chromosome 5: implications for management and genetic counseling

por Armstrong, Margaret E., Weaver, David D., Lah, Melissa D., Vance, Gail H., Landis, Benjamin J., Ware, Stephanie M., Helm, Benjamin M.
Publicado 2018

Rationale for the Cytogenomics of Cardiovascular Malformations Consortium: A Phenotype Intensive Registry Based Approach

por Hinton, Robert B., McBride, Kim L., Bleyl, Steven B., Bowles, Neil E., Border, William L., Garg, Vidu, Smolarek, Teresa A., Lalani, Seema R., Ware, Stephanie M.
Publicado 2015

Identification of a common polymorphism in COQ8B acting as a modifier of thoracic aortic aneurysm severity

por Landis, Benjamin J., Lai, Dongbing, Guo, Dong-Chuan, Corvera, Joel S., Idrees, Muhammad T., Stadler, Henry W., Cuevas, Christian, Needler, Gavin U., Vujakovich, Courtney E., Milewicz, Dianna M., Hinton, Robert B., Ware, Stephanie M.
Publicado 2021

Learning to Crawl: Determining the Role of Genetic Abnormalities on Postoperative Outcomes in Congenital Heart Disease

por Landis, Benjamin J., Helm, Benjamin M., Herrmann, Jeremy L., Hoover, Madeline C., Durbin, Matthew D., Elmore, Lindsey R., Huang, Manyan, Johansen, Michael, Li, Ming, Przybylowski, Leon F., Geddes, Gabrielle C., Ware, Stephanie M.
Publicado 2022

The analysis of heterotaxy patients reveals new loss-of-function variants of GRK5

por Lessel, Davor, Muhammad, Tariq, Casar Tena, Teresa, Moepps, Barbara, Burkhalter, Martin D., Hitz, Marc-Phillip, Toka, Okan, Rentzsch, Axel, Schubert, Stephan, Schalinski, Adelheid, Bauer, Ulrike M. M., Kubisch, Christian, Ware, Stephanie M., Philipp, Melanie
Publicado 2016

A multi-disciplinary, comprehensive approach to management of children with heterotaxy

por Saba, Thomas G., Geddes, Gabrielle C., Ware, Stephanie M., Schidlow, David N., del Nido, Pedro J., Rubalcava, Nathan S., Gadepalli, Samir K., Stillwell, Terri, Griffiths, Anne, Bennett Murphy, Laura M., Barber, Andrew T., Leigh, Margaret W., Sabin, Necia, Shapiro, Adam J.
Publicado 2022

A Multicenter Analysis of Abnormal Chromosomal Microarray Findings in Congenital Heart Disease

por Landis, Benjamin J., Helvaty, Lindsey R., Geddes, Gabrielle C., Lin, Jiuann‐Huey Ivy, Yatsenko, Svetlana A., Lo, Cecilia W., Border, William L., Wechsler, Stephanie Burns, Murali, Chaya N., Azamian, Mahshid S., Lalani, Seema R., Hinton, Robert B., Garg, Vidu, McBride, Kim L., Hodge, Jennelle C., Ware, Stephanie M.
Publicado 2023

DNAH6 and Its Interactions with PCD Genes in Heterotaxy and Primary Ciliary Dyskinesia

por Li, You, Yagi, Hisato, Onuoha, Ezenwa Obi, Damerla, Rama Rao, Francis, Richard, Furutani, Yoshiyuki, Tariq, Muhammad, King, Stephen M., Hendricks, Gregory, Cui, Cheng, Saydmohammed, Manush, Lee, Dong Min, Zahid, Maliha, Sami, Iman, Leatherbury, Linda, Pazour, Gregory J., Ware, Stephanie M., Nakanishi, Toshio, Goldmuntz, Elizabeth, Tsang, Michael, Lo, Cecilia W.
Publicado 2016

Genetic Causes of Cardiomyopathy in Children: First Results From the Pediatric Cardiomyopathy Genes Study

por Ware, Stephanie M., Wilkinson, James D., Tariq, Muhammad, Schubert, Jeffrey A., Sridhar, Arthi, Colan, Steven D., Shi, Ling, Canter, Charles E., Hsu, Daphne T., Webber, Steven A., Dodd, Debra A., Everitt, Melanie D., Kantor, Paul F., Addonizio, Linda J., Jefferies, John L., Rossano, Joseph W., Pahl, Elfriede, Rusconi, Paolo, Chung, Wendy K., Lee, Teresa, Towbin, Jeffrey A., Lal, Ashwin K., Bhatnagar, Surbhi, Aronow, Bruce, Dexheimer, Phillip J., Martin, Lisa J., Miller, Erin M., Sleeper, Lynn A., Razoky, Hiedy, Czachor, Jason, Lipshultz, Steven E.
Publicado 2021

Genetic resiliency associated with dominant lethal TPM1 mutation causing atrial septal defect with high heritability

por Teekakirikul, Polakit, Zhu, Wenjuan, Xu, Xinxiu, Young, Cullen B., Tan, Tuantuan, Smith, Amanda M., Wang, Chengdong, Peterson, Kevin A., Gabriel, George C., Ho, Sebastian, Sheng, Yi, Moreau de Bellaing, Anne, Sonnenberg, Daniel A., Lin, Jiuann-huey, Fotiou, Elisavet, Tenin, Gennadiy, Wang, Michael X., Wu, Yijen L., Feinstein, Timothy, Devine, William, Gou, Honglan, Bais, Abha S., Glennon, Benjamin J., Zahid, Maliha, Wong, Timothy C., Ahmad, Ferhaan, Rynkiewicz, Michael J., Lehman, William J., Keavney, Bernard, Alastalo, Tero-Pekka, Freckmann, Mary-Louise, Orwig, Kyle, Murray, Steve, Ware, Stephanie M., Zhao, Hui, Feingold, Brian, Lo, Cecilia W.
Publicado 2022

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