Zobrazeno 1 - 8
of 8
pro vyhledávání: '"Leslie G. Biesecker"'
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:
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:
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)
Autor:
Katie L. Lewis, Joshua D. Milner, Nina Jones, Jonathan J. Lyons, Michael A. Colicos, Thomas DiMaggio, Heejong Sung, Kelly D. Stone, Jack Chovanec, Leslie G. Biesecker, Celeste Nelson, Stephanie C. Stotz, Yihui Liu
Publikováno v:
Genetics in medicine : official journal of the American College of Medical Genetics. 20(5)
PurposeCaV3.2 signaling contributes to nociception, pruritus, gastrointestinal motility, anxiety, and blood pressure homeostasis. This calcium channel, encoded by CACNA1H, overlaps the human tryptase locus, wherein increased TPSAB1 copy number causes
Autor:
Celine S. Hong, Leslie G. Biesecker, James C. Mullikin, Jennifer J. Johnston, Larry N. Singh, David Ng
Publikováno v:
Genetics in medicine : official journal of the American College of Medical Genetics
The aim of the study was to assess exome data for preemptive pharmacogenetic screening for 203 clinically relevant pharmacogenetic variant positions from the Pharmacogenomics Knowledgebase and Clinical Pharmacogenetics Implementation Consortium and i