Zobrazeno 11 - 19
of 19
pro vyhledávání: '"Leslie G. Biesecker"'
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:
Leo B. Waterston, Ian D. Krantz, Barbara B. Biesecker, Steven Joffe, Barbara A. Koenig, Leslie G. Biesecker, Barbara A. Bernhardt, Robert C. Green, Kendall L. Umstead, Paul K. J. Han
Publikováno v:
Genetics in medicine : official journal of the American College of Medical Genetics
Clinical next-generation sequencing (CNGS) is introducing new opportunities and challenges into the practice of medicine. Simultaneously, these technologies are generating uncertainties of an unprecedented scale that laboratories, clinicians, and pat
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
Autor:
Leslie G. Biesecker
Publikováno v:
Genetics in medicine : official journal of the American College of Medical Genetics. 18(4)
Publikováno v:
Genetics in medicine : official journal of the American College of Medical Genetics
McArdle disease is one of the most common glycogen storage disorders. Although the exact prevalence is not known, it has been estimated to be 1 in 100,000 patients in the United States. More than 100 mutations in PYGM have been associated with this d
Autor:
Leslie G. Biesecker, Julianne M. O’Daniel, Christa Lese Martin, Robert L. Nussbaum, Robert C. Green, Heidi L. Rehm, Jonathan S. Berg, Michael S. Watson, Amy L. McGuire, Marc S. Williams, Wayne W. Grody, Bruce R. Korf, Kelly E. Ormond, Sarah S. Kalia
Publikováno v:
Genetics in medicine : official journal of the American College of Medical Genetics. 15(7)
In clinical exome and genome sequencing, there is a potential for the recognition and reporting of incidental or secondary findings unrelated to the indication for ordering the sequencing but of medical value for patient care. The American College of
Autor:
David Dimmock, Wayne W. Grody, Heidi L. Rehm, Leslie G. Biesecker, Gerard T. Berry, Ian D. Krantz, Howard J. Jacob, David T. Miller, Bruce R. Korf, Sarah S. Kalia, Amy L. McGuire, Robert C. Green, Robert L. Nussbaum, James P. Evans, Madhuri Hegde, Michael F. Murray, Jonathan S. Berg, Sharon E. Plon
Publikováno v:
Genetics in medicine : official journal of the American College of Medical Genetics. 14(4)
The aim of this study was to explore specific conditions and types of genetic variants that specialists in genetics recommend should be returned as incidental findings in clinical sequencing.Sixteen specialists in clinical genetics and/or molecular m
Autor:
Flavia M. Facio, Neal Oden, Amy Linn, W. Gregory Feero, Leslie G. Biesecker, Kandamurugu Manickam
Publikováno v:
Genetics in medicine : official journal of the American College of Medical Genetics. 12(6)
Purpose: To assess the ability of My Family Health Portrait to accurately collect family history for six common heritable disorders. Background: Family history is useful to assess disease risk but is not widely used. We compared the pedigree from My
Autor:
Leslie G. Biesecker
Publikováno v:
Genetics in medicine : official journal of the American College of Medical Genetics. 4
This article, based on a presentation given by the author at the third Asan-Harvard Medical International Symposium on "Genomics and Proteomics: Impact on Medicine and Health" in Seoul, Korea, July 3–4, 2001, discusses an iterative translational re
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