Zobrazeno 1 - 10
of 44
pro vyhledávání: '"Hila Milo-Rasouly"'
Autor:
Xiao-Fei Kong, Kelsie Bogyo, Sheena Kapoor, Patrick R. Shea, Emily E. Groopman, Amanda Thomas-Wilson, Enrico Cocchi, Hila Milo Rasouly, Beishi Zheng, Siming Sun, Junying Zhang, Mercedes Martinez, Jennifer M. Vittorio, Lorna M. Dove, Maddalena Marasa, Timothy C. Wang, Elizabeth C. Verna, Howard J. Worman, Ali G. Gharavi, David B. Goldstein, Julia Wattacheril
Publikováno v:
Scientific Reports, Vol 13, Iss 1, Pp 1-11 (2023)
Abstract Exome sequencing (ES) has been used in a variety of clinical settings but there are limited data on its utility for diagnosis and/or prediction of monogenic liver diseases. We developed a curated list of 502 genes for monogenic disorders ass
Externí odkaz:
https://doaj.org/article/60ca957afd764dd68969b0452f5f9ddb
Publikováno v:
JCI Insight, Vol 8, Iss 1 (2023)
FOXD1+ cell–derived stromal cells give rise to pericytes and fibroblasts that support the kidney vasculature and interstitium but are also major precursors of myofibroblasts. ZEB2 is a SMAD-interacting transcription factor that is expressed in deve
Externí odkaz:
https://doaj.org/article/7cd18fb3d7484f188a4fd45f86d09545
Autor:
Christie P. Thomas, Reem Daloul, Krista L. Lentine, Reginald Gohh, Prince M. Anand, Hila Milo Rasouly, Asif A. Sharfuddin, Johannes S. Schlondorff, Nancy M. Rodig, Margaret E. Freese, Neetika Garg, Brian K. Lee, Yasar Caliskan
Publikováno v:
American Journal of Transplantation. 23:597-607
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::244b3090d7dcb36178bb96df1979488b
https://doi.org/10.1016/j.ajt.2023.02.020
https://doi.org/10.1016/j.ajt.2023.02.020
Autor:
Glen S. Markowitz, Jung S Kim, Maddalena Marasa, Katherine Xu, Vivette D. D'Agati, Miroslav Sekulic, Yonatan Peleg, Jonathan Barasch, Ali G. Gharavi, Andrew S. Bomback, Dominick Santoriello, Ibrahim Batal, Iman Azam Ghavami, Satoru Kudose, Hila Milo Rasouly, Pietro A. Canetta, M. Barry Stokes
Publikováno v:
J Am Soc Nephrol
BACKGROUND: The long-term outcome of COVID-19–associated collapsing glomerulopathy is unknown. METHODS: We retrospectively identified 76 native kidney biopsies from patients with history of COVID-19 between March 2020 and April 2021. Presenting and
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8289d4befbfa802a4f09f027fe49d02f
https://doi.org/10.1681/asn.2021070931
https://doi.org/10.1681/asn.2021070931
Autor:
Venner Eric, Victoria Yi, David Murdock, Sara E. Kalla, Tsung-Jung Wu, Aniko Sabo, Shoudong Li, Qingchang Meng, Xia Tian, Mullai Murugan, Michelle Cohen, Christie Kovar, Wei-Qi Wei, Wendy K. Chung, Chunhua Weng, Georgia L. Wiesner, Gail P. Jarvik, Donna Muzny, Richard A. Gibbs, Debra Abrams, Samuel E. Adunyah, Ladia Albertson-Junkans, Berta Almoguera, Darren C. Ames, Paul Appelbaum, Samuel Aronson, Sharon Aufox, Lawrence J. Babb, Adithya Balasubramanian, Hana Bangash, Melissa Basford, Lisa Bastarache, Samantha Baxter, Meckenzie Behr, Barbara Benoit, Elizabeth Bhoj, Suzette J. Bielinski, Sarah T. Bland, Carrie Blout, Kenneth Borthwick, Erwin P. Bottinger, Mark Bowser, Harrison Brand, Murray Brilliant, Wendy Brodeur, Pedro Caraballo, David Carrell, Andrew Carroll, Lisa Castillo, Victor Castro, Gauthami Chandanavelli, Theodore Chiang, Rex L. Chisholm, Kurt D. Christensen, Wendy Chung, Christopher G. Chute, Brittany City, Beth L. Cobb, John J. Connolly, Paul Crane, Katherine Crew, David R. Crosslin, Jyoti Dayal, Mariza De Andrade, Jessica De la Cruz, Josh C. Denny, Shawn Denson, Tim DeSmet, Ozan Dikilitas, Michael J. Dinsmore, Sheila Dodge, Phil Dunlea, Todd L. Edwards, Christine M. Eng, David Fasel, Alex Fedotov, Qiping Feng, Mark Fleharty, Andrea Foster, Robert Freimuth, Christopher Friedrich, Stephanie M. Fullerton, Birgit Funke, Stacey Gabriel, Vivian Gainer, Ali Gharavi, Andrew M. Glazer, Joseph T. Glessner, Jessica Goehringer, Adam S. Gordon, Chet Graham, Robert C. Green, Justin H. Gundelach, Heather S. Hain, Hakon Hakonarson, Maegan V. Harden, John Harley, Margaret Harr, Andrea Hartzler, M. Geoffrey Hayes, Scott Hebbring, Nora Henrikson, Andrew Hershey, Christin Hoell, Ingrid Holm, Kayla M. Howell, George Hripcsak, Jianhong Hu, Elizabeth Duffy Hynes, Joy C. Jayaseelan, Yunyun Jiang, Yoonjung Yoonie Joo, Sheethal Jose, Navya Shilpa Josyula, Anne E. Justice, Divya Kalra, Elizabeth W. Karlson, Brendan J. Keating, Melissa A. Kelly, Eimear E. Kenny, Dustin Key, Krzysztof Kiryluk, Terrie Kitchner, Barbara Klanderman, Eric Klee, David C. Kochan, Viktoriya Korchina, Leah Kottyan, Emily Kudalkar, Alanna Kulchak Rahm, Iftikhar J. Kullo, Philip Lammers, Eric B. Larson, Matthew S. Lebo, Magalie Leduc, Ming Ta (Michael) Lee, Niall J. Lennon, Kathleen A. Leppig, Nancy D. Leslie, Rongling Li, Wayne H. Liang, Chiao-Feng Lin, Jodell E. Linder, Noralane M. Lindor, Todd Lingren, James G. Linneman, Cong Liu, Wen Liu, Xiuping Liu, John Lynch, Hayley Lyon, Alyssa Macbeth, Harshad Mahadeshwar, Lisa Mahanta, Bradley Malin, Teri Manolio, Maddalena Marasa, Keith Marsolo, Michelle L. McGowan, Elizabeth McNally, Jim Meldrim, Frank Mentch, Hila Milo Rasouly, Jonathan Mosley, Shubhabrata Mukherjee, Thomas E. Mullen, Jesse Muniz, David R. Murdock, Shawn Murphy, Melanie F. Myers, Bahram Namjou, Yizhao Ni, Robert C. Onofrio, Aniwaa Owusu Obeng, Thomas N. Person, Josh F. Peterson, Lynn Petukhova, Cassandra J. Pisieczko, Siddharth Pratap, Cynthia A. Prows, Megan J. Puckelwartz, Ritika Raj, James D. Ralston, Arvind Ramaprasan, Andrea Ramirez, Luke Rasmussen, Laura Rasmussen-Torvik, Soumya Raychaudhuri, Heidi L. Rehm, Marylyn D. Ritchie, Catherine Rives, Beenish Riza, Dan M. Roden, Elisabeth A. Rosenthal, Avni Santani, Schaid Dan, Steven Scherer, Stuart Scott, Aaron Scrol, Soumitra Sengupta, Ning Shang, Himanshu Sharma, Richard R. Sharp, Rajbir Singh, Patrick M.A. Sleiman, Kara Slowik, Joshua C. Smith, Maureen E. Smith, Duane T. Smoot, Jordan W. Smoller, Sunghwan Sohn, Ian B. Stanaway, Justin Starren, Mary Stroud, Jessica Su, Casey Overby Taylor, Kasia Tolwinski, Sara L. Van Driest, Sean M. Vargas, Matthew Varugheese, David Veenstra, Eric Venner, Miguel Verbitsky, Gina Vicente, Michael Wagner, Kimberly Walker, Theresa Walunas, Liwen Wang, Qiaoyan Wang, Scott T. Weiss, Quinn S. Wells, Peter S. White, Ken L. Wiley, Janet L. Williams, Marc S. Williams, Michael W. Wilson, Leora Witkowski, Laura Allison Woods, Betty Woolf, Julia Wynn, Yaping Yang, Ge Zhang, Lan Zhang, Hana Zouk
Publikováno v:
Genetics in medicine : official journal of the American College of Medical Genetics
Genomic medicine holds great promise for improving health care, but integrating searchable and actionable genetic data into electronic health records (EHRs) remains a challenge. Here we describe Neptune, a system for managing the interaction between
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::46ee0a24725b676d6fd75db54d7666bc
https://doi.org/10.1038/s41436-021-01230-w
https://doi.org/10.1038/s41436-021-01230-w
Publikováno v:
Annual review of medicine.
Hundreds of different genetic causes of chronic kidney disease are now recognized, and while individually rare, taken together they are significant contributors to both adult and pediatric diseases. Traditional genetics approaches relied heavily on t
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::33defddf75531ee59e9ec23c5bd5466c
https://pubmed.ncbi.nlm.nih.gov/36375470
https://pubmed.ncbi.nlm.nih.gov/36375470
Autor:
Xiao-Fei Kong, Kelsie Bogyo, Sheena Kapoor, Emily E. Groopman, Amanda Thomas-Wilson, Enrico Cocchi, Hila Milo Rasouly, Beishi Zheng, Siming Sun, Junying Zhang, Mercedes Martinez, Jennifer M Vittorio, Lorna M. Dove, Maddalena Marasa, Timothy C. Wang, Elizabeth C. Verna, Howard J. Worman, Ali G. Gharavi, David B. Goldstein, Julia Wattacheril
Exome sequencing (ES) has been used in a variety of clinical settings but there are limited data on its utility for diagnosis and/or prediction of monogenic liver diseases. We analyzed ES data in 758 patients with liver diseases., We developed a cura
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::281583ac7d626b5d2885ad372149d664
https://doi.org/10.1101/2022.06.21.22276400
https://doi.org/10.1101/2022.06.21.22276400
Cases in Precision Medicine: Genetic Testing to Predict Future Risk for Disease in a Healthy Patient
Publikováno v:
Annals of Internal Medicine. 174:540-547
Genetic testing is performed more routinely in clinical practice, and direct-to-consumer tests are widely available. It has obvious appeal as a preventive health measure. Clinicians and their healthy patients increasingly inquire about genetic testin
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::45b2eb76284bd6c3a070d614249ca3fc
https://doi.org/10.7326/m20-5713
https://doi.org/10.7326/m20-5713
Autor:
Hila Milo Rasouly, Olivia Balderes, Maddalena Marasa, Hilda Fernandez, Marissa Lipton, Fangming Lin, Ali G. Gharavi, Maya Sabatello
Publikováno v:
Genetics in Medicine. 25:100814
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::82685d31fa47bd73a21f2d9c2179860e
https://doi.org/10.1016/j.gim.2023.100814
https://doi.org/10.1016/j.gim.2023.100814
Autor:
Colin M.E. Halverson, John Lynch, Hila Milo Rasouly, Christin Hoell, Scott J. Hebbring, Kathleen A. Leppig, Gail P. Jarvik, Janet L. Williams, Maureen E. Smith, Rajbir Singh, Ingrid A. Holm, Richard R. Sharp, Sarah Bland, Georgia Weisner, Wendy K. Chung, Melanie F. Myers, Iftikhar J. Kullo, Cynthia A. Prows, Kelsey Stuttgen Finn, Julia Wynn, Sharon Aufox
Publikováno v:
Am J Med Genet A
Population-based genomic screening has the potential to improve health outcomes by identifying genetic causes of disease before they occur. While much attention has been paid to supporting the needs of the small percentage of patients who will receiv
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6a6b8a8581a89af36cacd736f4555c22
https://doi.org/10.1002/ajmg.a.62002
https://doi.org/10.1002/ajmg.a.62002