Exome Sequencing Identifies SMAD3 Mutations as a Cause of Familial Thoracic Aortic Aneurysm and Dissection with Intracranial and Other Arterial Aneurysms

Por Regalado, Ellen S., Guo, Dong-chuan, Villamizar, Carlos, Avidan, Nili, Gilchrist, Dawna, McGillivray, Barbara, Clarke, Lorne, Bernier, Francois, Santos-Cortez, Regie L., Leal, Suzanne M., Bertoli-Avella, Aida M., Shendure, Jay, Rieder, Mark J., Nickerson, Deborah A, Milewicz, Dianna M.
Publicado em 2011

Recurrent Gain-of-Function Mutation in PRKG1 Causes Thoracic Aortic Aneurysms and Acute Aortic Dissections

Por Guo, Dong-chuan, Regalado, Ellen, Casteel, Darren E., Santos-Cortez, Regie L., Gong, Limin, Kim, Jeong Joo, Dyack, Sarah, Horne, S. Gabrielle, Chang, Guijuan, Jondeau, Guillaume, Boileau, Catherine, Coselli, Joseph S., Li, Zhenyu, Leal, Suzanne M., Shendure, Jay, Rieder, Mark J., Bamshad, Michael J., Nickerson, Deborah A., Kim, Choel, Milewicz, Dianna M.
Publicado em 2013

MAT2A Mutations Predispose Individuals to Thoracic Aortic Aneurysms

Por Guo, Dong-chuan, Gong, Limin, Regalado, Ellen S., Santos-Cortez, Regie L., Zhao, Ren, Cai, Bo, Veeraraghavan, Sudha, Prakash, Siddharth K., Johnson, Ralph J., Muilenburg, Ann, Willing, Marcia, Jondeau, Guillaume, Boileau, Catherine, Pannu, Hariyadarshi, Moran, Rocio, Debacker, Julie, Bamshad, Michael J., Shendure, Jay, Nickerson, Deborah A., Leal, Suzanne M., Raman, C.S., Swindell, Eric C., Milewicz, Dianna M.
Publicado no Am J Hum Genet (2015)

FOXE3 mutations predispose to thoracic aortic aneurysms and dissections

Por Kuang, Shao-Qing, Medina-Martinez, Olga, Guo, Dong-chuan, Gong, Limin, Regalado, Ellen S., Reynolds, Corey L., Boileau, Catherine, Jondeau, Guillaume, Prakash, Siddharth K., Kwartler, Callie S., Zhu, Lawrence Yang, Peters, Andrew M., Duan, Xue-Yan, Bamshad, Michael J., Shendure, Jay, Nickerson, Debbie A., Santos-Cortez, Regie L., Dong, Xiurong, Leal, Suzanne M., Majesky, Mark W., Swindell, Eric C., Jamrich, Milan, Milewicz, Dianna M.
Publicado no J Clin Invest (2016)

COPA mutations impair ER-Golgi transport causing hereditary autoimmune-mediated lung disease and arthritis

Por Watkin, Levi B., Jessen, Birthe, Wiszniewski, Wojciech, Vece, Timothy, Jan, Max, Sha, Youbao, Thamsen, Maike, Santos-Cortez, Regie L. P., Lee, Kwanghyuk, Gambin, Tomasz, Forbes, Lisa, Law, Christopher S., Stray-Petersen, Asbjørg, Cheng, Mickie H., Mace, Emily M., Anderson, Mark S., Liu, Dongfang, Tang, Ling Fung, Nicholas, Sarah K., Nahmod, Karen, Makedonas, George, Canter, Debra, Kwok, Pui-Yan, Hicks, John, Jones, Kirk D., Penney, Samantha, Jhangiani, Shalini N., Rosenblum, Michael D., Dell, Sharon D., Waterfield, Michael R., Papa, Feroz R., Muzny, Donna M., Zaitlen, Noah, Leal, Suzanne M., Gonzaga-Jauregui, Claudia, Boerwinkle, Eric, Eissa, N. Tony, Gibbs, Richard A., Lupski, James R., Orange, Jordan S., Shum, Anthony K.
Publicado no Nat Genet (2015)

TM4SF20 Ancestral Deletion and Susceptibility to a Pediatric Disorder of Early Language Delay and Cerebral White Matter Hyperintensities

Por Wiszniewski, Wojciech, Hunter, Jill V., Hanchard, Neil A., Willer, Jason R., Shaw, Chad, Tian, Qi, Illner, Anna, Wang, Xueqing, Cheung, Sau W., Patel, Ankita, Campbell, Ian M., Gelowani, Violet, Hixson, Patricia, Ester, Audrey R., Azamian, Mahshid S., Potocki, Lorraine, Zapata, Gladys, Hernandez, Patricia P., Ramocki, Melissa B., Santos-Cortez, Regie L.P., Wang, Gao, York, Michele K., Justice, Monica J., Chu, Zili D., Bader, Patricia I., Omo-Griffith, Lisa, Madduri, Nirupama S., Scharer, Gunter, Crawford, Heather P., Yanatatsaneejit, Pattamawadee, Eifert, Anna, Kerr, Jeffery, Bacino, Carlos A., Franklin, Adiaha I.A., Goin-Kochel, Robin, Simpson, Gayle, Immken, Ladonna, Haque, Muhammad E., Stosic, Marija, Williams, Misti D., Morgan, Thomas M., Pruthi, Sumit, Omary, Reed, Boyadjiev, Simeon A., Win, Kay K., Thida, Aye, Hurles, Matthew, Hibberd, Martin Lloyd, Khor, Chiea Chuen, Van Vinh Chau, Nguyen, Gallagher, Thomas E., Mutirangura, Apiwat, Stankiewicz, Pawel, Beaudet, Arthur L., Maletic-Savatic, Mirjana, Rosenfeld, Jill A., Shaffer, Lisa G., Davis, Erica E., Belmont, John W., Dunstan, Sarah, Simmons, Cameron P., Bonnen, Penelope E., Leal, Suzanne M., Katsanis, Nicholas, Lupski, James R., Lalani, Seema R.
Publicado em 2013

TM4SF20 Ancestral Deletion and Susceptibility to a Pediatric Disorder of Early Language Delay and Cerebral White Matter Hyperintensities

Por Wiszniewski, Wojciech, Hunter, Jill V., Hanchard, Neil A., Willer, Jason R., Shaw, Chad, Tian, Qi, Illner, Anna, Wang, Xueqing, Cheung, Sau W., Patel, Ankita, Campbell, Ian M., Gelowani, Violet, Hixson, Patricia, Ester, Audrey R., Azamian, Mahshid S., Potocki, Lorraine, Zapata, Gladys, Hernandez, Patricia P., Ramocki, Melissa B., Santos-Cortez, Regie L.P., Wang, Gao, York, Michele K., Justice, Monica J., Chu, Zili D., Bader, Patricia I., Omo-Griffith, Lisa, Madduri, Nirupama S., Scharer, Gunter, Crawford, Heather P., Yanatatsaneejit, Pattamawadee, Eifert, Anna, Kerr, Jeffery, Bacino, Carlos A., Franklin, Adiaha I.A., Goin-Kochel, Robin P., Simpson, Gayle, Immken, Ladonna, Haque, Muhammad E., Stosic, Marija, Williams, Misti D., Morgan, Thomas M., Pruthi, Sumit, Omary, Reed, Boyadjiev, Simeon A., Win, Kay K., Thida, Aye, Hurles, Matthew, Hibberd, Martin Lloyd, Khor, Chiea Chuen, Van Vinh Chau, Nguyen, Gallagher, Thomas E., Mutirangura, Apiwat, Stankiewicz, Pawel, Beaudet, Arthur L., Maletic-Savatic, Mirjana, Rosenfeld, Jill A., Shaffer, Lisa G., Davis, Erica E., Belmont, John W., Dunstan, Sarah, Simmons, Cameron P., Bonnen, Penelope E., Leal, Suzanne M., Katsanis, Nicholas, Lupski, James R., Lalani, Seema R.
Publicado em 2013