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

ανά 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.
Έκδοση 2011

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

ανά 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.
Έκδοση 2013

MAT2A Mutations Predispose Individuals to Thoracic Aortic Aneurysms

ανά 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.
Τόπος έκδοσης Am J Hum Genet (2015)

FOXE3 mutations predispose to thoracic aortic aneurysms and dissections

ανά 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.
Τόπος έκδοσης J Clin Invest (2016)

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

ανά 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.
Τόπος έκδοσης Nat Genet (2015)

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

ανά 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.
Έκδοση 2013

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

ανά 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.
Έκδοση 2013