Copy number variants in Ebstein anomaly

著者: Giannakou, Andreas, Sicko, Robert J., Zhang, Wei, Romitti, Paul, Browne, Marilyn L., Caggana, Michele, Brody, Lawrence C., Jelliffe-Pawlowski, Laura, Shaw, Gary M., Kay, Denise M., Mills, James L.
出版年 PLoS One (2017)

Genetic Variants in Isolated Ebstein Anomaly Implicated in Myocardial Development Pathways

著者: Sicko, Robert J., Browne, Marilyn L., Rigler, Shannon L., Druschel, Charlotte M., Liu, Gang, Fan, Ruzong, Romitti, Paul A., Caggana, Michele, Kay, Denise M., Brody, Lawrence C., Mills, James L.
出版年 PLoS One (2016)

Rare Copy Number Variants in a Population Based Investigation of Hypoplastic Right Heart Syndrome

著者: Dimopoulos, Aggeliki, Sicko, Robert J., Kay, Denise M., Rigler, Shannon L., Druschel, Charlotte M., Caggana, Michele, Browne, Marilyn L., Fan, Ruzong, Romitti, Paul A., Brody, Lawrence C., Mills, James L.
出版年 Birth Defects Res (2017)

Novel copy-number variants in a population-based investigation of classic heterotaxy

著者: Rigler, Shannon L., Kay, Denise M., Sicko, Robert J., Fan, Ruzong, Liu, Aiyi, Caggana, Michele, Browne, Marilyn L., Druschel, Charlotte M., Romitti, Paul A., Brody, Lawrence C., Mills, James L.
出版年 Genet Med (2014)

Copy Number Variants in a Population-Based Investigation of Klippel–Trenaunay Syndrome

著者: Dimopoulos, Aggeliki, Sicko, Robert J., Kay, Denise M., Rigler, Shannon L., Fan, Ruzong, Romitti, Paul A., Browne, Marilyn L., Druschel, Charlotte M., Caggana, Michele, Brody, Lawrence C., Mills, James L.
出版年 Am J Med Genet A (2016)

Copy-number variants and candidate gene mutations in isolated split hand/foot malformation

著者: Carter, Tonia C., Sicko, Robert J., Kay, Denise M., Browne, Marilyn L., Romitti, Paul A., Edmunds, Zoë L., Liu, Aiyi, Fan, Ruzong, Druschel, Charlotte M., Caggana, Michele, Brody, Lawrence C., Mills, James L.
出版年 J Hum Genet (2017)

Rare copy number variants identified in prune belly syndrome

著者: Boghossian, Nansi S., Sicko, Robert J., Giannakou, Andreas, Dimopoulos, Aggeliki, Caggana, Michele, Tsai, Michael Y., Yeung, Edwina H., Pankratz, Nathan, Cole, Benjamin R., Romitti, Paul A., Browne, Marilyn L., Fan, Ruzong, Liu, Aiyi, Kay, Denise M., Mills, James L.
出版年 Eur J Med Genet (2017)

Copy-number variant analysis of classic heterotaxy highlights the importance of body patterning pathways

著者: Hagen, Erin M., Sicko, Robert J., Kay, Denise M., Rigler, Shannon L., Dimopoulos, Aggeliki, Ahmad, Shabbir, Doleman, Margaret H., Fan, Ruzong, Romitti, Paul A., Browne, Marilyn L., Caggana, Michele, Brody, Lawrence C., Shaw, Gary M., Jelliffe-Pawlowski, Laura L., Mills, James L.
出版年 Hum Genet (2016)

Rare Copy Number Variants Implicated in Posterior Urethral Valves

著者: Boghossian, Nansi S., Sicko, Robert J., Kay, Denise M., Rigler, Shannon L., Caggana, Michele, Tsai, Michael Y., Yeung, Edwina H., Pankratz, Nathan, Cole, Benjamin R., Druschel, Charlotte M., Romitti, Paul A., Browne, Marilyn L., Fan, Ruzong, Liu, Aiyi, Brody, Lawrence C., Mills, James L.
出版年 Am J Med Genet A (2015)

A genome-wide association study implicates the BMP7 locus as a risk factor for nonsyndromic metopic craniosynostosis

著者: Justice, Cristina M, Cuellar, Araceli, Bala, Krithi, Sabourin, Jeremy A, Cunningham, Michael L, Crawford, Karen, Phipps, Julie M, Zhou, Yan, Cilliers, Deirdre, Byren, Jo C, Johnson, David, Wall, Steven A, Morton, Jenny E V, Noons, Peter, Sweeney, Elizabeth, Weber, Astrid, Rees, Katie E M, Wilson, Louise C, Simeonov, Emil, Kaneva, Radka, Yaneva, Nadezhda, Georgiev, Kiril, Bussarsky, Assen, Senders, Craig, Zwienenberg, Marike, Boggan, James, Roscioli, Tony, Tamburrini, Gianpiero, Barba, Marta, Conway, Kristin, Sheffield, Val C, Brody, Lawrence, Mills, James L, Kay, Denise, Sicko, Robert J, Langlois, Peter H, Tittle, Rachel K, Botto, Lorenzo D, Jenkins, Mary M, LaSalle, Janine M, Lattanzi, Wanda, Wilkie, Andrew O M, Wilson, Alexander F, Romitti, Paul A, Boyadjiev, Simeon A
出版年 Hum Genet (2020)