Dynamic and Stable Cohesins Regulate Synaptonemal Complex Assembly and Chromosome Segregation von Gyuricza, Mercedes R., Manheimer, Kathryn B., Apte, Vandana, Krishnan, Badri, Joyce, Eric F., McKee, Bruce D., McKim, Kim S.

Volltext

Robust identification of mosaic variants in congenital heart disease von Manheimer, Kathryn B., Richter, Felix, Edelmann, Lisa J., D’Souza, Sunita L., Shi, Lisong, Shen, Yufeng, Homsy, Jason, Boskovski, Marko T., Tai, Angela C., Gorham, Joshua, Yasso, Christopher, Goldmuntz, Elizabeth, Brueckner, Martina, Lifton, Richard P., Chung, Wendy K., Seidman, Christine E., Seidman, J. G., Gelb, Bruce D.

Volltext

Genomic analyses implicate noncoding de novo variants in congenital heart disease von Richter, Felix, Morton, Sarah U., Kim, Seong Won, Kitaygorodsky, Alexander, Wasson, Lauren K., Chen, Kathleen M., Zhou, Jian, Qi, Hongjian, Patel, Nihir, DePalma, Steven R., Parfenov, Michael, Homsy, Jason, Gorham, Joshua M., Manheimer, Kathryn B., Velinder, Matthew, Farrell, Andrew, Marth, Gabor, Schadt, Eric E., Kaltman, Jonathan R., Newburger, Jane W., Giardini, Alessandro, Goldmuntz, Elizabeth, Brueckner, Martina, Kim, Richard, Porter, George A., Bernstein, Daniel, Chung, Wendy K., Srivastava, Deepak, Tristani-Firouzi, Martin, Troyanskaya, Olga G., Dickel, Diane E., Shen, Yufeng, Seidman, Jonathan G., Seidman, Christine E., Gelb, Bruce D.

Volltext

EM-mosaic detects mosaic point mutations that contribute to congenital heart disease von Hsieh, Alexander, Morton, Sarah U, Willcox, Jon A L, Gorham, Joshua M, Tai, Angela C, Qi, Hongjian, DePalma, Steven, McKean, David, Griffin, Emily, Manheimer, Kathryn B, Bernstein, Daniel, Kim, Richard W, Newburger, Jane W, Porter, Jr, George A, Srivastava, Deepak, Tristani-Firouzi, Martin, Brueckner, Martina, Lifton, Richard P, Goldmuntz, Elizabeth, Gelb, Bruce D, Chung, Wendy K, Seidman, Christine E, Seidman, J G, Shen, Yufeng

Volltext

Robust identification of deletions in exome and genome sequence data based on clustering of Mendelian errors von Manheimer, Kathryn B., Patel, Nihir, Richter, Felix, Gorham, Joshua, Tai, Angela C., Homsy, Jason, Boskovski, Marko T., Parfenov, Michael, Goldmuntz, Elizabeth, Chung, Wendy K., Brueckner, Martina, Tristani‐Firouzi, Martin, Srivastava, Deepak, Seidman, Jonathan G., Seidman, Christine E., Gelb, Bruce D., Sharp, Andrew J.

Volltext

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

Volltext

Additional file 2 of EM-mosaic detects mosaic point mutations that contribute to congenital heart disease von Hsieh, Alexander, Morton, Sarah U., Willcox, Jon A. L., Gorham, Joshua M., Tai, Angela C., Hongjian Qi, DePalma, Steven, McKean, David, Griffin, Emily, Manheimer, Kathryn B., Bernstein, Daniel, Kim, Richard W., Newburger, Jane W., Porter, George A., Srivastava, Deepak, Tristani-Firouzi, Martin, Brueckner, Martina, Lifton, Richard P., Goldmuntz, Elizabeth, Gelb, Bruce D., Chung, Wendy K., Seidman, Christine E., J. G. Seidman, Yufeng Shen

Volltext bestellen

Additional file 1 of EM-mosaic detects mosaic point mutations that contribute to congenital heart disease von Hsieh, Alexander, Morton, Sarah U., Willcox, Jon A. L., Gorham, Joshua M., Tai, Angela C., Hongjian Qi, DePalma, Steven, McKean, David, Griffin, Emily, Manheimer, Kathryn B., Bernstein, Daniel, Kim, Richard W., Newburger, Jane W., Porter, George A., Srivastava, Deepak, Tristani-Firouzi, Martin, Brueckner, Martina, Lifton, Richard P., Goldmuntz, Elizabeth, Gelb, Bruce D., Chung, Wendy K., Seidman, Christine E., J. G. Seidman, Yufeng Shen

Volltext bestellen