Zobrazeno 1 - 10
of 18
pro vyhledávání: '"Joy Jayaseelan"'
Autor:
Adam W. Hansen, Payal Arora, Michael M. Khayat, Leah J. Smith, Andrea M. Lewis, Linda Z. Rossetti, Joy Jayaseelan, Ingrid Cristian, Devon Haynes, Stephanie DiTroia, Naomi Meeks, Mauricio R. Delgado, Jill A. Rosenfeld, Lynn Pais, Susan M. White, Qingchang Meng, Davut Pehlivan, Pengfei Liu, Marie-Claude Gingras, Michael F. Wangler, Donna M. Muzny, James R. Lupski, Craig D. Kaplan, Richard A. Gibbs
Publikováno v:
HGG Advances, Vol 2, Iss 1, Pp 100014- (2021)
Summary: De novo germline variation in POLR2A was recently reported to associate with a neurodevelopmental disorder. We report twelve individuals harboring putatively pathogenic de novo or inherited variants in POLR2A, detail their phenotypes, and ma
Externí odkaz:
https://doaj.org/article/469ff01f4ca548e4a1adff79415aecc4
Autor:
Jo Lynne Rokita, Komal S. Rathi, Maria F. Cardenas, Kristen A. Upton, Joy Jayaseelan, Katherine L. Cross, Jacob Pfeil, Laura E. Egolf, Gregory P. Way, Alvin Farrel, Nathan M. Kendsersky, Khushbu Patel, Krutika S. Gaonkar, Apexa Modi, Esther R. Berko, Gonzalo Lopez, Zalman Vaksman, Chelsea Mayoh, Jonas Nance, Kristyn McCoy, Michelle Haber, Kathryn Evans, Hannah McCalmont, Katerina Bendak, Julia W. Böhm, Glenn M. Marshall, Vanessa Tyrrell, Karthik Kalletla, Frank K. Braun, Lin Qi, Yunchen Du, Huiyuan Zhang, Holly B. Lindsay, Sibo Zhao, Jack Shu, Patricia Baxter, Christopher Morton, Dias Kurmashev, Siyuan Zheng, Yidong Chen, Jay Bowen, Anthony C. Bryan, Kristen M. Leraas, Sara E. Coppens, HarshaVardhan Doddapaneni, Zeineen Momin, Wendong Zhang, Gregory I. Sacks, Lori S. Hart, Kateryna Krytska, Yael P. Mosse, Gregory J. Gatto, Yolanda Sanchez, Casey S. Greene, Sharon J. Diskin, Olena Morozova Vaske, David Haussler, Julie M. Gastier-Foster, E. Anders Kolb, Richard Gorlick, Xiao-Nan Li, C. Patrick Reynolds, Raushan T. Kurmasheva, Peter J. Houghton, Malcolm A. Smith, Richard B. Lock, Pichai Raman, David A. Wheeler, John M. Maris
Publikováno v:
Cell Reports, Vol 29, Iss 6, Pp 1675-1689.e9 (2019)
Summary: Accelerating cures for children with cancer remains an immediate challenge as a result of extensive oncogenic heterogeneity between and within histologies, distinct molecular mechanisms evolving between diagnosis and relapsed disease, and li
Externí odkaz:
https://doaj.org/article/5a7054ef48fe4832b69df7b358c3a0d5
Autor:
Richard A. Gibbs, Hua Shen, Jill A. Rosenfeld, Milana Trubnykova, Jennifer E. Posey, Adam W. Hansen, Christopher M. Grochowski, Tadahiro Mitani, James R. Lupski, Pengfei Liu, Suneeta Madan-Khetarpal, Varuna Chander, Michael M. Khayat, He Li, Elena Kessler, Alper Gezdirici, Joy Jayaseelan, Marie-Claude Gingras, Donna M. Muzny, Ximena Montenegro-Garreaud, Yunyun Jiang, Davut Pehlivan, Daryl A. Scott, Shalini N. Jhangiani, Hugo Abarca-Barriga, Qingchang Meng
Publikováno v:
Hum Mutat
Universidad Peruana de Ciencias Aplicadas (UPC)
Repositorio Academico-UPC
UPC-Institucional
Universidad Peruana de Ciencias Aplicadas
instacron:UPC
Human Mutation
Universidad Peruana de Ciencias Aplicadas (UPC)
Repositorio Academico-UPC
UPC-Institucional
Universidad Peruana de Ciencias Aplicadas
instacron:UPC
Human Mutation
KIF1A is a molecular motor for membrane-bound cargo important to the development and survival of sensory neurons. KIF1A dysfunction has been associated with several Mendelian disorders with a spectrum of overlapping phenotypes, ranging from spastic p
Autor:
Ian B. Stanaway, Dan M. Roden, Divya Kalra, Dustin Key, Debra J. Abrams, David Fasel, Victor Castro, Brad Malin, Berta Almoguera, Beenish Riza, Meckenzie A. Behr, Eric Venner, Christine M. Eng, Joy Jayaseelan, Scott J. Hebbring, Michelle L. McGowan, Steven E. Scherer, Theresa L. Walunas, Mark Bowser, James D. Ralston, Wei-Qi Wei, Liwen Wang, David R. Murdock, Wayne H. Liang, Julia Wynn, Nancy D. Leslie, Laura J. Rasmussen-Torvik, Ming Ta (Michael) Lee, Frank D. Mentch, Lan Zhang, Alanna Kulchak Rahm, Josh F. Peterson, Jodell E. Linder, Joshua C. Smith, Soumitra Sengupta, Brendan J. Keating, Gina Vicente, Andrew Carroll, Nora B. Henrikson, Anne E. Justice, Heather S. Hain, Wen Liu, Andrea H. Ramirez, Matthew S. Lebo, Hana Zouk, Georgia L. Wiesner, Andrea L. Hartzler, Cassandra J. Pisieczko, Catherine M. Rives, Jessica Goehringer, Maegan V. Harden, John Lynch, Chiao-Feng Lin, Peter White, Phil Dunlea, Shawn N. Murphy, Mullai Murugan, Harshad Mahadeshwar, Mark Fleharty, Andrea Foster, Arvind Ramaprasan, Christopher A. Friedrich, Justin H. Gundelach, Hayley Lyon, Niall J. Lennon, Eric W. Klee, David R. Crosslin, Ge Zhang, Rongling Li, Ozan Dikilitas, Xiuping Liu, Christin Hoell, Aniwaa Owusu Obeng, Katherine D. Crew, Lisa M. Castillo, Justin Starren, Jonathan D. Mosley, Carrie L. Blout, Himanshu Sharma, Elizabeth M. McNally, Sarah T. Bland, Megan J. Puckelwartz, Matthew Varugheese, Keith Marsolo, Betty Woolf, Sharon Aufox, Janet L. Williams, Kimberly Walker, Murray H. Brilliant, Birgit Funke, Laura Allison Woods, Marylyn D. Ritchie, Brittany City, Todd Lingren, Hila Milo Rasouly, Lawrence J. Babb, Alex Fedotov, Robert C. Onofrio, Margaret Harr, Suzette J. Bielinski, Michael W. Wilson, Shubhabrata Mukherjee, Robert R. Freimuth, Chet Graham, Todd L. Edwards, Quinn S. Wells, Marc S. Williams, Jordan W. Smoller, Wendy K. Chung, Avni Santani, Paul K. Crane, George Hripcsak, QiPing Feng, Ali G. Gharavi, Yizhao Ni, Iftikhar J. Kullo, Michael Wagner, Philip E. Lammers, Michael J. Dinsmore, Thomas N. Person, Victoria Yi, Samuel E. Adunyah, Tim DeSmet, Eric B. Larson, Elizabeth Hynes, David C. Kochan, Eimear E. Kenny, Magalie S. Leduc, Lisa Mahanta, David Carrell, Paul S. Appelbaum, Viktoriya Korchina, Beth L. Cobb, Lynn Petukhova, Jessica De la Cruz, Patrick M. A. Sleiman, Stuart A. Scott, Tsung-Jung Wu, Gail P. Jarvik, Erwin P. Bottinger, Ken Wiley, Josh C. Denny, Melissa A. Basford, Samuel J. Aronson, David L. Veenstra, Yaping Yang, Kayla Marie Howell, John J. Connolly, Jessica Su, Yoonjung Yoonie Joo, Miguel Verbitsky, Sean M. Vargas, Cong Liu, Barbara Benoit, Andrew Hershey, Richard A. Gibbs, Cynthia A. Prows, Hana Bangash, Wendy Brodeur, Gauthami Chandanavelli, Sara L. Van Driest, Kurt D. Christensen, Elizabeth J. Bhoj, Vivian S. Gainer, Adam S. Gordon, Robert C. Green, Hakon Hakonarson, Krzysztof Kiryluk, Elisabeth A. Rosenthal, Rajbir Singh, James G. Linneman, Harrison Brand, Theodore Chiang, Sheila Dodge, Ingrid A. Holm, M. Geoffrey Hayes, Yunyun Jiang, Ning Shang, Samantha Baxter, Noralane M. Lindor, Kathleen A. Leppig, Teri A. Manolio, Sara E. Kalla, Pedro J. Caraballo, Ritika Raj, Aaron Scrol, Jyoti G. Dayal, Richard R. Sharp, Christie Kovar, Soumya Raychaudhuri, Sunghwan Sohn, Emily Kudalkar, Maddalena Marasa, Stacey Gabriel, Dan Schaid, Ladia Albertson-Junkans, Rex L. Chisholm, Maureen E. Smith, Donna M. Muzny, Casey Overby Taylor, Jianhong Hu, Elizabeth W. Karlson, Lisa Bastarache, Darren C. Ames, Joseph T. Glessner, Leora Witkowski, Siddharth Pratap, Qiaoyan Wang, Melissa A. Kelly, Adithya Balasubramanian, Kara Slowik, Terrie Kitchner, Barbara J. Klanderman, Shawn Denson, Mary Stroud, Alyssa Macbeth, Melanie F. Myers, Jesse Muniz, Kasia Tolwinski, Scott T. Weiss, Chunhua Weng, Stephanie M. Fullerton, John B. Harley, Christopher G. Chute, Heidi L. Rehm, Sheethal Jose, Andrew M. Glazer, Navya Shilpa Josyula, Kenneth M. Borthwick, Thomas E. Mullen, Mariza de Andrade, Leah C. Kottyan, Luke V. Rasmussen, James Meldrim, Bahram Namjou
Publikováno v:
The American Journal of Human Genetics. 105:588-605
The advancement of precision medicine requires new methods to coordinate and deliver genetic data from heterogeneous sources to physicians and patients. The eMERGE III Network enrolled >25,000 participants from biobank and prospective cohorts of pred
Autor:
Harsha Doddapaneni, Melissa L. Bondy, Jianhong Hu, Daniel I. Jacobs, Joy Jayaseelan, Spiridon Tsavachidis, Matthew N. Bainbridge, Xiangjun Gu, Jason T. Huse, Kazutaka Fukumura, Georgina Armstrong, Donna M. Muzny
Publikováno v:
Neuro-Oncology. 20:1625-1633
Background The genomic characterization of sporadically arising gliomas has delineated molecularly and clinically distinct subclasses of disease. However, less is known about the molecular nature of gliomas that are familial in origin. We performed m
Autor:
Uwe Rix, Kenneth E. Huffman, John D. Minna, Eric B. Haura, Tingting Jiang, Oliver A. Hampton, Jamie K. Teer, Boning Gao, Vasiliki Pelekanou, Harsha Doddapaneni, Fumi Kinose, Joy Jayaseelan, Robert C. Doebele, Jennifer R. Peters-Hall, Kemp H. Kernstine, Wei Zhang, Luc Girard, Yuval Kluger, Dara L. Aisner, Melissa Coquelin, David A. Wheeler, Chunxian Huang, Marileila Varella-Garcia, Kyle R. Covington, Dwight H Oliver, Anh T. Le, David L. Rimm, Jerry W. Shay, Adi F. Gazdar, Jianhong Hu
Publikováno v:
Oncotarget
// Boning Gao 1, 2, 3 , Chunxian Huang 1, 2 , Kemp Kernstine 4 , Vasiliki Pelekanou 5 , Yuval Kluger 5 , Tingting Jiang 6 , Jennifer R. Peters-Hall 7 , Melissa Coquelin 7 , Luc Girard 1, 2, 3 , Wei Zhang 1, 2 , Kenneth Huffman 1, 2 , Dwight Oliver 8
Autor:
Pichai Raman, Richard B. Lock, Jacob Pfeil, Anthony C. Bryan, Gonzalo Lopez, Julia W. Böhm, Huiyuan Zhang, Siyuan Zheng, Gregory Gatto, Karthik Kalletla, Laura E. Ritenour, Sibo Zhao, Peter J. Houghton, Glenn M. Marshall, Frank K. Braun, Casey S. Greene, Sharon J. Diskin, Malcolm A. Smith, C. Patrick Reynolds, Khushbu Patel, Alvin Farrel, Gregory I. Sacks, Raushan T. Kurmasheva, Kristen M. Leraas, Zalman Vaksman, Katherine L. Cross, Yunchen Du, Zeineen Momin, Jonas Nance, Yolanda Sanchez, Holly Lindsay, Michelle Haber, Patricia Baxter, Yi Chen, Xiao-Nan Li, Apexa Modi, Katerina Bendak, Komal S. Rathi, Chelsea Mayoh, Kathryn L. Evans, Jack Shu, Lin Qi, Harshavardhan Doddapaneni, John M. Maris, Julie M. Gastier-Foster, Lori S. Hart, Kristen A. Upton, Maria F. Cardenas, Richard Gorlick, Gregory P. Way, Joy Jayaseelan, E. Anders Kolb, Jay Bowen, Olena Morozova Vaske, David A. Wheeler, Jo Lynne Rokita, Kateryna Krytska, Wendong Zhang, David Haussler, Vanessa Tyrrell, Dias Kurmashev, Yael P. Mosse, Christopher L. Morton, Sara E. Coppens, Nathan M. Kendsersky, Hannah McCalmont, Kristyn McCoy
SummaryAccelerating cures for children with cancer remains an immediate challenge due to extensive oncogenic heterogeneity between and within histologies, distinct molecular mechanisms evolving between diagnosis and relapsed disease, and limited ther
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6258e54ee3d309e6395d697f13771862
https://doi.org/10.1101/566455
https://doi.org/10.1101/566455
Autor:
Malcolm A. Smith, Xiao-Nan Li, Kateryna Krytska, Anthony C. Bryan, Gregory I. Sacks, Raushan T. Kurmasheva, Huiyuan Zhang, Joy Jayaseelan, Dias Kurmashev, Richard Gorlick, Gregory Gatto, Jo Lynne Rokita, Kathryn Evans, Maria F. Cardenas, Frank K. Braun, Alvin Farrel, Julie M. Gastier-Foster, Yael P. Mosse, Jonas Nance, Yolanda Sanchez, Gonzalo Lopez, Apexa Modi, Sara E. Coppens, Nathan M. Kendsersky, Esther R. Berko, Gregory P. Way, Wendong Zhang, Pichai Raman, David Haussler, Yi Chen, Julia W. Böhm, Zeineen Momin, Yunchen Du, E. Anders Kolb, Jay Bowen, David A. Wheeler, Lori S. Hart, Sibo Zhao, Harshavardhan Doddapaneni, Khushbu Patel, Vanessa Tyrrell, Christopher L. Morton, Hannah McCalmont, Zalman Vaksman, Siyuan Zheng, Casey S. Greene, Laura E. Egolf, Chelsea Mayoh, C. Patrick Reynolds, Kristyn McCoy, Jack Shu, Lin Qi, Olena M. Vaske, Holly Lindsay, John M. Maris, Richard B. Lock, Krutika S. Gaonkar, Jacob Pfeil, Sharon J. Diskin, Michelle Haber, Patricia Baxter, Kristen M. Leraas, Katerina Bendak, Komal S. Rathi, Peter J. Houghton, Glenn M. Marshall, Katherine L. Cross, Kristen A. Upton, Karthik Kalletla
Publikováno v:
Cell reports, vol 29, iss 6
Cell Reports, Vol 29, Iss 6, Pp 1675-1689.e9 (2019)
Cell reports
Cell Reports, Vol 29, Iss 6, Pp 1675-1689.e9 (2019)
Cell reports
SUMMARY Accelerating cures for children with cancer remains an immediate challenge as a result of extensive oncogenic heterogeneity between and within histologies, distinct molecular mechanisms evolving between diagnosis and relapsed disease, and lim
Autor:
Leah J. Smith, Joy Jayaseelan, Mauricio R. Delgado, Ingrid Cristian, Pengfei Liu, Naomi Meeks, James R. Lupski, Jill A. Rosenfeld, Donna M. Muzny, Lynn Pais, Michael M. Khayat, Craig D. Kaplan, Qingchang Meng, Devon Haynes, Susan M. White, Payal Arora, Stephanie DiTroia, Linda Z. Rossetti, Andrea M. Lewis, Marie-Claude Gingras, Davut Pehlivan, Richard A. Gibbs, Michael F. Wangler, Adam W. Hansen
Publikováno v:
HGG advances
HGG Advances, Vol 2, Iss 1, Pp 100014-(2021)
HGG Advances, Vol 2, Iss 1, Pp 100014-(2021)
Summary: De novo germline variation in POLR2A was recently reported to associate with a neurodevelopmental disorder. We report twelve individuals harboring putatively pathogenic de novo or inherited variants in POLR2A, detail their phenotypes, and ma
Autor:
Joy Jayaseelan, Shen Gu, Philip M. Boone, Heather A. Dickerson, Lisa C.A. D'Alessandro, Shalini N. Jhangiani, Richard A. Gibbs, Eric Boerwinkle, Huyen Dinh, Nancy J. Hall, James F. Martin, Alexander H. Li, Charles D. Fraser, Donna M. Muzny, Mahshid Azamian, Susan D. Fernbach, Tomaz Gambin, Jianhong Hu, Zeynep H. Coban-Akdemir, Harshavardhan Doddapaneni, Jeffrey A. Towbin, Bo Yuan, John W. Belmont, Daniel J. Penny, Annarita Nicosia, Seema R. Lalani, Neil A. Hanchard, Stephanie M. Ware, James R. Lupski, Keila N. Lopez, Ender Karaca
Publikováno v:
European journal of human genetics : EJHG. 27(4)
Aberrant left-right patterning in the developing human embryo can lead to a broad spectrum of congenital malformations. The causes of most laterality defects are not known, with variants in established genes accounting for