Zobrazeno 1 - 10
of 354
pro vyhledávání: '"Wayne W. Grody"'
Autor:
Shahram Yazdani, Anish Badjatiya, Naghmeh Dorrani, Hane Lee, Wayne W. Grody, Stanley F. Nelson, Katrina M. Dipple
Publikováno v:
Molecular Genetics and Metabolism Reports, Vol 23, Iss , Pp - (2020)
We report two brothers with severe global cognitive and motor delay, cortical visual impairment and sick sinus syndrome who were born to consanguineous parents. Standard genetic evaluations did not reveal the cause of their mental retardation. As exp
Externí odkaz:
https://doaj.org/article/e35251c8a29f406e9b93a4e1678f42f1
Autor:
Celeste C. Eno, Stacey K. Barton, Naghmeh Dorrani, Stephen D. Cederbaum, Joshua L. Deignan, Wayne W. Grody
Publikováno v:
Molecular Genetics & Genomic Medicine, Vol 8, Iss 1, Pp n/a-n/a (2020)
Abstract Background Clinical care teams providing presymptomatic genetic testing often employ advanced confidentiality practices for documentation and result storage. However, patient requests for increased confidentiality may be in conflict with the
Externí odkaz:
https://doaj.org/article/bafc9efa85524071b75dd2c173780e80
Autor:
Karen L. Kaul MD, PhD, Linda M. Sabatini PhD, Gregory J. Tsongalis PhD, Angela M. Caliendo MD, PhD, Randall J. Olsen MD, PhD, Edward R. Ashwood MD, Sherri Bale PhD, Robert Benirschke PhD, Dean Carlow MD, PhD, Birgit H. Funke PhD, Wayne W. Grody MD, PhD, Randall T. Hayden MD, Madhuri Hegde PhD, Elaine Lyon PhD, Kazunori Murata PhD, Melissa Pessin MD, Richard D. Press MD, PhD, Richard B. Thomson PhD
Publikováno v:
Academic Pathology, Vol 4 (2017)
An explosion of knowledge and technology is revolutionizing medicine and patient care. Novel testing must be brought to the clinic with safety and accuracy, but also in a timely and cost-effective manner, so that patients can benefit and laboratories
Externí odkaz:
https://doaj.org/article/210cb1e332c4468389676c5e4e19c6f8
Autor:
Wayne W. Grody
Publikováno v:
Cancer Biology & Medicine, Vol 13, Iss 1, Pp 1-2 (2016)
Externí odkaz:
https://doaj.org/article/ef231b49c4d142b5a02fceef5af14a55
For decades, Emery and Rimoin's Principles and Practice of Medical Genetics and Genomics has served as the ultimate resource for clinicians integrating genetics into medical practice. With detailed coverage in contributions from over 250 of the world
Autor:
Isabella Lin, Jennifer M. Grossman, Fabiola Quintero-Rivera, Yalda Afshar, Wayne W. Grody, Jeffrey D. Goldstein
Publikováno v:
American Journal of Medical Genetics Part A. 185:3042-3047
22q11.2 deletion syndrome (22q11.2 DS, MIM #188400) is the most common chromosomal microdeletion with an incidence of 1 in 4000 live births. 22q11.2 DS patients present with varying penetrance and a broad phenotypic spectrum including dysmorphic feat
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::ae3063659084b3be7cf44794b5eb40c9
https://doi.org/10.1002/ajmg.a.62346
https://doi.org/10.1002/ajmg.a.62346
Autor:
Daniela del Gaudio, Garry R. Cutting, Caroline Astbury, Kristin G. Monaghan, Anthony R. Gregg, Joshua L. Deignan, Wayne W. Grody, Sue Richards
Publikováno v:
Genet Med
Pathogenic variants in the CFTR gene are causative of classic cystic fibrosis (CF) as well as some nonclassic CF phenotypes. In 2001, CF became the first target of pan-ethnic universal carrier screening by molecular methods. The American College of M
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f7d735b923350ec9aa21a9403e9373c4
https://doi.org/10.1038/s41436-020-0822-5
https://doi.org/10.1038/s41436-020-0822-5
Autor:
Wei-Lun Huang, Chung Liang Ho, Josh Deignan, David Chia, Feng Li, Chien Chung Lin, Wu Chou Su, Michael Tu, Qianlin Ye, Wen Chien Jea, Yi Lin Chen, David T.W. Wong, Wei Liao, Fang Wei, Wan Li Chen, Charles M. Strom, Wayne W. Grody, Chien Jung Chen, Jordan Cheng
Publikováno v:
The Journal of Molecular Diagnostics. 22:1050-1062
Electric field–induced release and measurement (EFIRM) is a novel, plate-based, liquid biopsy platform capable of detecting circulating tumor DNA containing EGFR mutations directly from saliva and plasma in both early- and late-stage patients with
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::5a2172395cfa30ed4b5ced62decf5d20
https://doi.org/10.1016/j.jmoldx.2020.05.005
https://doi.org/10.1016/j.jmoldx.2020.05.005
Autor:
Robert G. Best, George Khushf, Sara Schonfeld Rabin-Havt, Ellen Wright Clayton, Theresa A. Grebe, Jill Hagenkord, Scott Topper, Jaime Fivecoat, Margaret Chen, Wayne W. Grody
Publikováno v:
Genetics in medicine : official journal of the American College of Medical Genetics. 24(3)
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1f184146bd73e2974b11c8363e52a0db
https://pubmed.ncbi.nlm.nih.gov/35253644
https://pubmed.ncbi.nlm.nih.gov/35253644
Autor:
Stanley F. Nelson, Marlin Touma, Steven L. Lee, Myke Federman, Wayne W. Grody, Ryan J. Schmidt, Stacy L. Pineles, Reshma Biniwale, Yan Zhao, Aaron Nagiel, Gary Satou, Zubin Mehta, Glen Van Arsdell, Juan C. Alejos, Xuedong Kang, Atsushi Nakano, Lee-kai Wang, Ascia Eskin, Gregory A. Fishbein, Fabiola Quintero-Rivera, Meena Garg, Leigh C. Reardon, Nancy Halnon, Negar Khanlou, Viviana M. Fajardo
Publikováno v:
Journal of molecular medicine (Berlin, Germany), vol 99, iss 11
Journal of Molecular Medicine (Berlin, Germany)
Journal of Molecular Medicine (Berlin, Germany)
Abstract Among neonatal cardiomyopathies, primary endocardial fibroelastosis (pEFE) remains a mysterious disease of the endomyocardium that is poorly genetically characterized, affecting 1/5000 live births and accounting for 25% of the entire pediatr
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::cd3b71937200aff7e4861ff5405fb1e6
https://escholarship.org/uc/item/5kz0j003
https://escholarship.org/uc/item/5kz0j003