Zobrazeno 1 - 10
of 730
pro vyhledávání: '"Kingsmore, P."'
Rapid genomic sequencing for genetic disease diagnosis and therapy in intensive care units: a review
Publikováno v:
npj Genomic Medicine, Vol 9, Iss 1, Pp 1-14 (2024)
Abstract Single locus (Mendelian) diseases are a leading cause of childhood hospitalization, intensive care unit (ICU) admission, mortality, and healthcare cost. Rapid genome sequencing (RGS), ultra-rapid genome sequencing (URGS), and rapid exome seq
Externí odkaz:
https://doaj.org/article/bb362eac87bb4847b1dbc6dcc5f0c4e4
Autor:
Daniel Hoare, David Kingsmore, Michael Holsgrove, Ewan Russell, Mahmut T. Kirimi, Jakub Czyzewski, Nosrat Mirzai, Simon Kennedy, Steven L. Neale, John R. Mercer
Publikováno v:
Communications Medicine, Vol 4, Iss 1, Pp 1-14 (2024)
Abstract Background Chronic kidney disease (CKD) affects 10% of the global population costing over a hundred billion dollars per annum and leading to increased risk of cardiovascular disease. Many patients with CKD require regular haemodialyses. Synt
Externí odkaz:
https://doaj.org/article/d0c9cfcf42f840b7945d251f38317d8f
Publikováno v:
Lupus Science and Medicine, Vol 11, Iss Suppl 2 (2024)
Externí odkaz:
https://doaj.org/article/a644f862bc5544cd9b03c911c92ca0bf
Publikováno v:
Lupus Science and Medicine, Vol 11, Iss Suppl 2 (2024)
Externí odkaz:
https://doaj.org/article/8c79453774c34eab9b4dc249d3d5e0c3
Advancing access to genome sequencing for rare genetic disorders: recent progress and call to action
Autor:
Vaidehi Jobanputra, Brock Schroeder, Heidi L. Rehm, Wei Shen, Elizabeth Spiteri, Ghunwa Nakouzi, Stacie Taylor, Christian R. Marshall, Linyan Meng, Stephen F. Kingsmore, Katarzyna Ellsworth, Euan Ashley, Ryan J. Taft, on behalf of the Medical Genome Initiative
Publikováno v:
npj Genomic Medicine, Vol 9, Iss 1, Pp 1-3 (2024)
Externí odkaz:
https://doaj.org/article/9bb3ad6b45f84c10a06a89c6cbf0b68e
Publikováno v:
CVIR Endovascular, Vol 7, Iss 1, Pp 1-10 (2024)
Abstract Background Cephalic arch stenoses (CAS) occur in near 70% of elbow arteriovenous fistulas. Percutaneous transluminal angioplasty (PTA) remains first-line treatment despite documented stent-grafts (SG) efficacy. The study aim is to report lon
Externí odkaz:
https://doaj.org/article/b0281a74574d4169a9acc5f26632d5e0
Autor:
Erika L. Hubbard, Prathyusha Bachali, Kathryn M. Kingsmore, Yisha He, Michelle D. Catalina, Amrie C. Grammer, Peter E. Lipsky
Publikováno v:
Genome Medicine, Vol 15, Iss 1, Pp 1-4 (2023)
Externí odkaz:
https://doaj.org/article/1c59fb4d491a4d9880a930e549e2b67b
Autor:
Erika L. Hubbard, Prathyusha Bachali, Kathryn M. Kingsmore, Yisha He, Michelle D. Catalina, Amrie C. Grammer, Peter E. Lipsky
Publikováno v:
Genome Medicine, Vol 15, Iss 1, Pp 1-23 (2023)
Abstract Background Systemic lupus erythematosus (SLE) is known to be clinically heterogeneous. Previous efforts to characterize subsets of SLE patients based on gene expression analysis have not been reproduced because of small sample sizes or techn
Externí odkaz:
https://doaj.org/article/831538ac1b4240f9b730b2bf8568f542
Publikováno v:
Scientific Reports, Vol 13, Iss 1, Pp 1-10 (2023)
Abstract A key limitation in assessing the therapeutic impact of non-pharmacological approaches to treating hypertension is the method of reporting outcomes. Reducing the medications required to achieve the same blood pressure may be reported separat
Externí odkaz:
https://doaj.org/article/bdb2b027854647cc9ffbf94e3ef06a97
Autor:
Lauren Thompson, Austin Larson, Lisa Salz, Regan Veith, John-Paul Tsai, Anuj Jayakar, Rachel Chapman, Apeksha Gupta, Stephen F. Kingsmore, David Dimmock, Alan Bedrick, Maureen Kelly Galindo, Kari Casas, Mohamed Mohamed, Lisa Straight, M. Akram Khan, Daria Salyakina
Publikováno v:
Frontiers in Pediatrics, Vol 12 (2024)
ObjectiveMulti-center implementation of rapid whole genome sequencing with assessment of the clinical utility of rapid whole genome sequencing (rWGS), including positive, negative and uncertain results, in admitted infants with a suspected genetic di
Externí odkaz:
https://doaj.org/article/d4247d3c615a40bd9f199dcdcda3c707