Zobrazeno 1 - 10
of 19
pro vyhledávání: '"Leslie G. Biesecker"'
Publikováno v:
Genetics in medicine : official journal of the American College of Medical Genetics. 23(3)
Autor:
Lian Hu, Dora Ferrari, Julie C. Sapp, Ashlyn Gruber, Leslie G. Biesecker, Jean Zhao, Brian Schwartz
Publikováno v:
Genetics in medicine : official journal of the American College of Medical Genetics
PurposeProteus syndrome is a rare mosaic overgrowth disorder that is associated with severe complications. While anecdotal data have suggested that the life span of affected patients is reduced, this has not been measured. Mortality data on rare dise
Autor:
Ada Hamosh, Heidi L. Rehm, C. Sue Richards, Ingrid A. Holm, Lynn Wein Bush, Leslie G. Biesecker, Christa Lese Martin, James P. Evans, Anita E. Beck
Publikováno v:
Genetics in medicine : official journal of the American College of Medical Genetics
Disclaimer: This Points to Consider document is designed as an educational resource to provide best practices for medical genetic clinicians, laboratories, and journals regarding the provision, publication, and dissemination of patient phenotypes in
Autor:
Leslie G, Biesecker
Publikováno v:
Genetics in medicine : official journal of the American College of Medical Genetics. 21(5)
Autor:
Katie L. Lewis, Erin Turbitt, Leslie G. Biesecker, Brittany M. Hollister, Megan C. Roberts, William M. P. Klein
Publikováno v:
Genetics in medicine : official journal of the American College of Medical Genetics
© 2018, American College of Medical Genetics and Genomics. Purpose: We examined the role of ethnic identity (which measures the degree to which individuals identify with their ethnic group) in beliefs about, and intentions to learn, genomic results.
Autor:
Leslie G, Biesecker
Publikováno v:
Genetics in medicine : official journal of the American College of Medical Genetics. 21(3)
Autor:
Tia L. Kauffman, Carmit K. McMullen, Greg M. Cooper, Marian J. Gilmore, Edward J. Romasko, Carrie L. Blout, Jennifer J. Johnston, Ragan Hart, Amy L. McGuire, Robert C. Green, Kevin M. Bowling, Leslie G. Biesecker, Joel B. Krier, Nancy B. Spinner, Heidi L. Rehm, Candice R. Finnila, Benjamin S. Wilfond, Arezou A. Ghazani, Jonathan S. Berg, Laura K. Conlin, Ane Miren Sagardia, Katie L. Lewis, Matthew C. Dulik, Gail P. Jarvik, Lucia A. Hindorff, Michelle L. Thompson, Sharon E. Plon, Erin Turbitt, Kurt D. Christensen, Jason L. Vassy, Kelly M. East, Whitley V. Kelley, David L. Veenstra, C. Sue Richards, Katrina A.B. Goddard, Jeffrey Ou, Barbara B. Biesecker, Jessica Everett, Katie Bergstrom, Laura M. Amendola, Sawona Biswas
Publikováno v:
Genetics in medicine : official journal of the American College of Medical Genetics. 21(5)
© 2018, American College of Medical Genetics and Genomics. Purpose: Clinical sequencing emerging in health care may result in secondary findings (SFs). Methods: Seventy-four of 6240 (1.2%) participants who underwent genome or exome sequencing throug
Autor:
Leslie G. Biesecker
Publikováno v:
Genetics in medicine : official journal of the American College of Medical Genetics. 20(8)
Autor:
Robert L. Nussbaum, Kenneth M. Boucher, Snehit Prabhu, Marc S. Greenblatt, Steven M. Harrison, Sean V. Tavtigian, Leslie G. Biesecker
Publikováno v:
Genetics in medicine : official journal of the American College of Medical Genetics
Purpose We evaluated the American College of Medical Genetics and Genomics/Association for Molecular Pathology (ACMG/AMP) variant pathogenicity guidelines for internal consistency and compatibility with Bayesian statistical reasoning. Methods The ACM
Autor:
Leslie G. Biesecker
Publikováno v:
Genetics in medicine : official journal of the American College of Medical Genetics. 19(5)