Study of Transcriptional Effects in Cis at the IFIH1 Locus

por Zouk, Hana, Marchand, Luc, Polychronakos, Constantin
Publicado 2010

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

Phenotypes of undiagnosed adults with actionable OTC and GLA variants

por Gold, Jessica I., Madhavan, Sarina, Park, Joseph, Zouk, Hana, Perez, Emma, Strong, Alanna, Drivas, Theodore G., Karaa, Amel, Yudkoff, Marc, Rader, Daniel, Green, Robert C., Gold, Nina B.
Publicado 2023

Unique Variant Spectrum in a Jordanian Cohort with Inherited Retinal Dystrophies

por Azab, Bilal, Dardas, Zain, Aburizeg, Dunia, Al-Bdour, Muawyah, Abu-Ameerh, Mohammed, Saleh, Tareq, Barham, Raghda, Maswadi, Ranad, Ababneh, Nidaa A, Alsalem, Mohammad, Zouk, Hana, Amr, Sami, Awidi, Abdalla
Publicado 2021

Returning actionable genomic results in a research biobank: Analytic validity, clinical implementation, and resource utilization

por Blout Zawatsky, Carrie L., Shah, Nidhi, Machini, Kalotina, Perez, Emma, Christensen, Kurt D., Zouk, Hana, Steeves, Marcie, Koch, Christopher, Uveges, Melissa, Shea, Janelle, Gold, Nina, Krier, Joel, Boutin, Natalie, Mahanta, Lisa, Rehm, Heidi L., Weiss, Scott T., Karlson, Elizabeth W., Smoller, Jordan W., Lebo, Matthew S., Green, Robert C.
Publicado 2021

Genetic Sex Validation for Sample Tracking in Clinical Testing

por Hu, Jianhong, Korchina, Viktoriya, Zouk, Hana, Harden, Maegan V., Murdock, David, Macbeth, Alyssa, Harrison, Steven M., Lennon, Niall, Kovar, Christie, Balasubramanian, Adithya, Zhang, Lan, Chandanavelli, Gauthami, Pasham, Divya, Rowley, Robb, Wiley, Ken, Smith, Maureen E., Gordon, Adam, Jarvik, Gail P., Sleiman, Patrick, Kelly, Melissa A, Bland, Harris T., Murugan, Mullai, Venner, Eric, Boerwinkle, Eric, Prows, Cynthia, Mahanta, Lisa, Rehm, Heidi L., Gibbs, Richard A., Muzny, Donna M.
Publicado 2023

Correction to: The genetic architecture of Plakophilin 2 cardiomyopathy

por Dries, Annika M., Kirillova, Anna, Reuter, Chloe M., Garcia, John, Zouk, Hana, Hawley, Megan, Murray, Brittney, Tichnell, Crystal, Pilichou, Kalliopi, Protonotarios, Alexandros, Medeiros-Domingo, Argelia, Kelly, Melissa A., Baras, Aris, Ingles, Jodie, Semsarian, Christopher, Bauce, Barbara, Celeghin, Rudy, Basso, Cristina, Jongbloed, Jan D. H., Nussbaum, Robert L., Funke, Birgit, Cerrone, Marina, Mestroni, Luisa, Taylor, Matthew R. G., Sinagra, Gianfranco, Merlo, Marco, Saguner, Ardan M., Elliott, Perry M., Syrris, Petros, van Tintelen, J. Peter, James, Cynthia A., Haggerty, Christopher M., Parikh, Victoria N.
Publicado 2021

The genetic architecture of Plakophilin 2 cardiomyopathy

por Dries, Annika M., Kirillova, Anna, Reuter, Chloe M., Garcia, John, Zouk, Hana, Hawley, Megan, Murray, Brittney, Tichnell, Crystal, Pilichou, Kalliopi, Protonotarios, Alexandros, Medeiros-Domingo, Argelia, Kelly, Melissa A., Baras, Aris, Ingles, Jodie, Semsarian, Christopher, Bauce, Barbara, Celeghin, Rudy, Basso, Cristina, Jongbloed, Jan D. H., Nussbaum, Robert L., Funke, Birgit, Cerrone, Marina, Mestroni, Luisa, Taylor, Matthew R. G., Sinagra, Gianfranco, Merlo, Marco, Saguner, Ardan M., Elliott, Perry M., Syrris, Petros, van Tintelen, J. Peter, James, Cynthia A., Haggerty, Christopher M., Parikh, Victoria N.
Publicado 2021

Frequency of genomic incidental findings among 21,915 eMERGE network participants

por Gordon, Adam S., Zouk, Hana, Venner, Eric, Eng, Christine M., Funke, Birgit H., Amendola, Laura M., Carrell, David S., Chisholm, Rex L., Chung, Wendy K., Denny, Joshua C., Fedotov, Alexander, Hakonarson, Hakon, Kullo, Iftikhar J., Larson, Eric B., Leduc, Magalie S., Leppig, Kathleen A., Lennon, Niall J., Linder, Jodell E., Muzny, Donna M., Prows, Cynthia A., Rasmussen-Torvik, Laura J., Rasouly, Hila Milo, Roden, Dan M., Rosenthal, Elisabeth A., Smith, Maureen E., Stanaway, Ian B., Van Driest, Sara L., Walker, Kimberly, Wiesner, Georgia L., Williams, Marc S., Witkowski, Leora, Crosslin, David R., Gibbs, Richard A., Rehm, Heidi L., Jarvik, Gail P.
Publicado 2020