Zobrazeno 1 - 9
of 9
pro vyhledávání: '"William A. Faucett"'
Autor:
Workgroup, Kelly E. Ormond, Maia J. Borensztein, Miranda L. G. Hallquist, Adam H. Buchanan, William Andrew Faucett, Holly L. Peay, Maureen E. Smith, Eric P. Tricou, Wendy R. Uhlmann, Karen E. Wain, Curtis R. Coughlin, On behalf of the Clinical Genome CADRe Workgroup On behalf of the Clinical Genome CADRe
Publikováno v:
Journal of Personalized Medicine; Volume 11; Issue 12; Pages: 1304
Purpose: Informed consent for genetic testing has historically been acquired during pretest genetic counseling, without specific guidance defining which core concepts are required. Methods: The Clinical Genome Resource (ClinGen) Consent and Disclosur
Autor:
Kelly E. Ormond, Maia J. Borensztein, Miranda L. G. Hallquist, Adam H. Buchanan, William Andrew Faucett, Holly L. Peay, Maureen E. Smith, Eric P. Tricou, Wendy R. Uhlmann, Karen E. Wain, Curtis R. Coughlin, On behalf of the Clinical Genome CADRe Workgroup
Publikováno v:
Journal of Personalized Medicine, Vol 11, Iss 1304, p 1304 (2021)
Purpose: Informed consent for genetic testing has historically been acquired during pretest genetic counseling, without specific guidance defining which core concepts are required. Methods: The Clinical Genome Resource (ClinGen) Consent and Disclosur
Autor:
Kelly E, Ormond, Maia J, Borensztein, Miranda L G, Hallquist, Adam H, Buchanan, William Andrew, Faucett, Holly L, Peay, Maureen E, Smith, Eric P, Tricou, Wendy R, Uhlmann, Karen E, Wain, Curtis R, Coughlin, On Behalf Of The Clinical Genome CADRe Workgroup
Publikováno v:
Journal of Personalized Medicine
Purpose: Informed consent for genetic testing has historically been acquired during pretest genetic counseling, without specific guidance defining which core concepts are required. Methods: The Clinical Genome Resource (ClinGen) Consent and Disclosur
Autor:
David H. Ledbetter, David J. Carey, F. Daniel Davis, Samantha N. Fetterolf, Michael F. Murray, Diane T. Smelser, William A. Faucett, Uyenlinh L. Mirshahi, Glenn S. Gerhard, H. Lester Kirchner
Publikováno v:
Genetics in medicine : official journal of the American College of Medical Genetics
Purpose Geisinger Health System (GHS) provides an ideal platform for Precision Medicine. Key elements are the integrated health system, stable patient population, and electronic health record (EHR) infrastructure. In 2007 Geisinger launched MyCode®,
Autor:
C Sprangel, Lukas Habegger, Alicia Hawes, Xiaodong Bai, John Penn, Susan M. Wolf, Jeffrey C. Staples, Ingrid B. Borecki, George D. Yancopoulos, David J. Carey, Aris Economides, Michael F. Murray, T Persaud, Shane McCarthy, John D. Overton, Colm O'Dushlaine, Frederick E. Dewey, Alexander E. Lopez, Jeffrey G. Reid, Claudia Gonzaga-Jauregui, A. R. Shuldiner, David H. Ledbetter, Rostislav Chernomorsky, A. Baras, Ricardo H. Ulloa, Evan Maxwell, Samantha N. Fetterolf, M Scollan, William A. Faucett, A Hare-Harris, Christa Lese Martin, Jonathan S. Packer, Omri Gottesman, Joseph B. Leader, Ritchie, H L Kirchner, Andres Moreno-De-Luca, Giusy Della Gatta
Copy number variants (CNVs) are a substantial source of genomic variation and contribute to a wide range of human disorders. Gene-disrupting exonic CNVs have important clinical implications as they can underlie variability in disease presentation and
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7fc423f063a8ee6e7fce7b564534ff43
Autor:
Christina Austin-Tse, Alan R. Shuldiner, Claudia Gonzaga-Jauregui, Noura S. Abul-Husn, Semanti Mukherjee, Samantha N. Fetterolf, Cristopher V. Van Hout, Monica A. Giovanni, Matthew S. Lebo, Omri Gottesman, Frederick E. Dewey, Thomas N. Person, Lukas Habegger, Korey A. Kost, Lance J. Adams, H. Lester Kirchner, James R. Elmore, Aris N. Economides, Christopher D. Still, Alexander H. Li, David J. Carey, Sarah A. Pendergrass, Anthony Marcketta, Jeffrey Staples, Marylyn D. Ritchie, Colm O'Dushlaine, Nehal Gosalia, Manoj Kanagaraj, William A. Faucett, John Penn, Raghu Metpally, Ingrid B. Borecki, Kavita Praveen, Jonathan S. Packer, Shannon Bruse, Andrew J. Murphy, Joseph B. Leader, Michael F. Murray, Suganthi Balasubramanian, Neil Stahl, Jeffrey G. Reid, David H. Ledbetter, Dustin N. Hartzel, Kimberly A. Skelding, F. Daniel Davis, Alexander Lopez, Aris Baras, George D. Yancopoulos, Scott Mellis, Robert H. Phillips, John D. Overton, Heather Mason-Suares, Lyndon J. Mitnaul, Daniel R. Lavage
Publikováno v:
Science. 354
Unleashing the power of precision medicine Precision medicine promises the ability to identify risks and treat patients on the basis of pathogenic genetic variation. Two studies combined exome sequencing results for over 50,000 people with their elec
Autor:
Barbara A. Koenig, Carol R. Horowitz, Catherine A. McCarty, Stephanie M. Fullerton, Saskia C. Sanderson, Luke V. Rasmussen, Susan Brown Trinidad, Marc S. Williams, Ellen Wright Clayton, Jennifer B. McCormick, William A. Faucett, Kadija Ferryman, Julie R. Field, James D. Ralston, Andrea L. Hartzler, Murray H. Brilliant, Maureen E. Smith, Erica Bowton
Publikováno v:
Genetics in Medicine. 15:792-801
Integrating genomic information into clinical care and the electronic health record can facilitate personalized medicine through genetically guided clinical decision support. Stakeholder involvement is critical to the success of these implementation
Publikováno v:
Genetics in Medicine. 10:343-348
In 2006, The National Institutes of Health Office of Rare Diseases announced the Collaboration, Education, and Test Translation (CETT) Program, a pilot project to increase and improve the translation of genetic tests for rare diseases from research l
Autor:
Gloria Gerrity, Rebecca Stametz, William A. Faucett, Debra L. Henninger, Dan Davis, Dorothy C. Sellers, Lisa Bailey-Davis, Wayne A. Psek, Jonathan D. Darer
Publikováno v:
eGEMs
eGEMs, Vol 3, Iss 1 (2015)
eGEMs, Vol 3, Iss 1 (2015)
Introduction: The Learning Health Care System (LHCS) model seeks to utilize sophisticated technologies and competencies to integrate clinical operations, research and patient participation in order to continuously generate knowledge, improve care, an