Zobrazeno 1 - 10
of 1 939
pro vyhledávání: '"Slavotinek A"'
Publikováno v:
HGG Advances, Vol 5, Iss 3, Pp 100286- (2024)
Summary: Genetic testing with exome sequencing and genome sequencing is increasingly offered to infants and children with cardiovascular diseases. However, the rates of positive diagnoses after genetic testing within the different categories of cardi
Externí odkaz:
https://doaj.org/article/6c06b15aec4143bfb132259c13f4e3e8
Autor:
Scollon, Sarah, Robinson, Jill O., Jo, Eunji, Suckiel, Sabrina A., Amendola, Laura M., Foreman, Ann Katherine M., Jarvik, Gail P., Rini, Christine, Wang, Tao, Slavotinek, Anne
Publikováno v:
In Genetics in Medicine September 2024 26(9)
Autor:
Brady, Adrian P., Allen, Bibb, Chong, Jaron, Kotter, Elmar, Kottler, Nina, Mongan, John, Oakden-Rayner, Lauren, Pinto dos Santos, Daniel, Tang, An, Wald, Christoph, Slavotinek, John
Publikováno v:
In Journal of the American College of Radiology August 2024 21(8):1292-1310
Autor:
Yusuph Mavura, Nuriye Sahin-Hodoglugil, Ugur Hodoglugil, Mark Kvale, Pierre-Marie Martin, Jessica Van Ziffle, W. Patrick Devine, Sara L. Ackerman, Barbara A. Koenig, Pui-Yan Kwok, Mary E. Norton, Anne Slavotinek, Neil Risch
Publikováno v:
npj Genomic Medicine, Vol 9, Iss 1, Pp 1-14 (2024)
Abstract It has been suggested that diagnostic yield (DY) from Exome Sequencing (ES) may be lower among patients with non-European ancestries than those with European ancestry. We examined the association of DY with estimated continental/subcontinent
Externí odkaz:
https://doaj.org/article/e1e6ad4fde6842039e6b02089d668270
Autor:
Adrian P. Brady, Bibb Allen, Jaron Chong, Elmar Kotter, Nina Kottler, John Mongan, Lauren Oakden-Rayner, Daniel Pinto dos Santos, An Tang, Christoph Wald, John Slavotinek
Publikováno v:
Insights into Imaging, Vol 15, Iss 1, Pp 1-19 (2024)
Abstract Artificial Intelligence (AI) carries the potential for unprecedented disruption in radiology, with possible positive and negative consequences. The integration of AI in radiology holds the potential to revolutionize healthcare practices by a
Externí odkaz:
https://doaj.org/article/a0270d79cf654afb80e58b7ac7183bff
Publikováno v:
In Human Genetics and Genomics Advances 18 July 2024 5(3)
Autor:
Anne Slavotinek, Shannon Rego, Nuriye Sahin-Hodoglugil, Mark Kvale, Billie Lianoglou, Tiffany Yip, Hannah Hoban, Simon Outram, Beatrice Anguiano, Flavia Chen, Jeremy Michelson, Roberta M. Cilio, Cynthia Curry, Renata C. Gallagher, Marisa Gardner, Rachel Kuperman, Bryce Mendelsohn, Elliott Sherr, Joseph Shieh, Jonathan Strober, Allison Tam, Jessica Tenney, William Weiss, Amy Whittle, Garrett Chin, Amanda Faubel, Hannah Prasad, Yusuph Mavura, Jessica Van Ziffle, W. Patrick Devine, Ugur Hodoglugil, Pierre-Marie Martin, Teresa N. Sparks, Barbara Koenig, Sara Ackerman, Neil Risch, Pui-Yan Kwok, Mary E. Norton
Publikováno v:
npj Genomic Medicine, Vol 8, Iss 1, Pp 1-10 (2023)
Abstract The diagnostic yield of exome sequencing (ES) has primarily been evaluated in individuals of European ancestry, with less focus on underrepresented minority (URM) and underserved (US) patients. We evaluated the diagnostic yield of ES in a co
Externí odkaz:
https://doaj.org/article/c19fcc01932947f88e053f92d2e0e021
Publikováno v:
Genetics in Medicine Open, Vol 2, Iss , Pp 101190- (2024)
Externí odkaz:
https://doaj.org/article/ecc7f5b4763e4f658f8c962547eb4ea0
Publikováno v:
Genetics in Medicine Open, Vol 2, Iss , Pp 101289- (2024)
Externí odkaz:
https://doaj.org/article/5f3985e395e84646a5fdd9d8a6b8ea2e
Publikováno v:
Genetics in Medicine Open, Vol 2, Iss , Pp 101624- (2024)
Externí odkaz:
https://doaj.org/article/f8b246b77d614cfe80766b782c64857b