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Wyświetlanie 1-4 z 4
Tytuł :
Clinical outcomes of a genomic screening program for actionable genetic conditions.
Autorzy :
Buchanan AH; Genomic Medicine Institute, Geisinger, Danville, PA, USA. .
Lester Kirchner H; Department of Population Health Sciences, Geisinger, Danville, PA, USA.
Schwartz MLB; Genomic Medicine Institute, Geisinger, Danville, PA, USA.
Kelly MA; Genomic Medicine Institute, Geisinger, Danville, PA, USA.
Schmidlen T; Genomic Medicine Institute, Geisinger, Danville, PA, USA.
Jones LK; Genomic Medicine Institute, Geisinger, Danville, PA, USA.
Hallquist MLG; Genomic Medicine Institute, Geisinger, Danville, PA, USA.
Rocha H; Genomic Medicine Institute, Geisinger, Danville, PA, USA.
Betts M; Genomic Medicine Institute, Geisinger, Danville, PA, USA.
Schwiter R; Genomic Medicine Institute, Geisinger, Danville, PA, USA.
Butry L; Genomic Medicine Institute, Geisinger, Danville, PA, USA.
Lazzeri AL; Genomic Medicine Institute, Geisinger, Danville, PA, USA.
Frisbie LR; Genomic Medicine Institute, Geisinger, Danville, PA, USA.
Rahm AK; Genomic Medicine Institute, Geisinger, Danville, PA, USA.
Hao J; Genomic Medicine Institute, Geisinger, Danville, PA, USA.; Department of Population Health Sciences, Geisinger, Danville, PA, USA.
Willard HF; Genomic Medicine Institute, Geisinger, Danville, PA, USA.; Genome Medical, Durham, NC, USA.
Martin CL; Genomic Medicine Institute, Geisinger, Danville, PA, USA.; Autism and Developmental Medicine Institute, Geisinger, Lewisburg, PA, USA.
Ledbetter DH; Genomic Medicine Institute, Geisinger, Danville, PA, USA.; Autism and Developmental Medicine Institute, Geisinger, Lewisburg, PA, USA.
Williams MS; Genomic Medicine Institute, Geisinger, Danville, PA, USA.
Sturm AC; Genomic Medicine Institute, Geisinger, Danville, PA, USA.
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Źródło :
Genetics in medicine : official journal of the American College of Medical Genetics [Genet Med] 2020 Nov; Vol. 22 (11), pp. 1874-1882. Date of Electronic Publication: 2020 Jun 30.
Typ publikacji :
Journal Article; Observational Study; Research Support, Non-U.S. Gov't
MeSH Terms :
Colorectal Neoplasms, Hereditary Nonpolyposis*/diagnosis
Colorectal Neoplasms, Hereditary Nonpolyposis*/genetics
Hereditary Breast and Ovarian Cancer Syndrome*
Hyperlipoproteinemia Type II*/genetics
Early Detection of Cancer ; Female ; Genetic Predisposition to Disease ; Genetic Testing ; Genomics ; Humans
Czasopismo naukowe
Tytuł :
Exome Sequencing-Based Screening for BRCA1/2 Expected Pathogenic Variants Among Adult Biobank Participants.
Autorzy :
Manickam K; Molecular and Human Genetics Department, Nationwide Children's Hospital, Columbus, Ohio.; Genomic Medicine Institute, Geisinger, Danville, Pennsylvania.
Buchanan AH; Genomic Medicine Institute, Geisinger, Danville, Pennsylvania.
Schwartz MLB; Genomic Medicine Institute, Geisinger, Danville, Pennsylvania.
Hallquist MLG; Genomic Medicine Institute, Geisinger, Danville, Pennsylvania.
Williams JL; Genomic Medicine Institute, Geisinger, Danville, Pennsylvania.
Rahm AK; Genomic Medicine Institute, Geisinger, Danville, Pennsylvania.
Rocha H; Genomic Medicine Institute, Geisinger, Danville, Pennsylvania.
Savatt JM; Genomic Medicine Institute, Geisinger, Danville, Pennsylvania.
Evans AE; Genomic Medicine Institute, Geisinger, Danville, Pennsylvania.
Butry LM; Genomic Medicine Institute, Geisinger, Danville, Pennsylvania.
Lazzeri AL; Genomic Medicine Institute, Geisinger, Danville, Pennsylvania.
Lindbuchler DM; Genomic Medicine Institute, Geisinger, Danville, Pennsylvania.
Flansburg CN; Genomic Medicine Institute, Geisinger, Danville, Pennsylvania.
Leeming R; Genomic Medicine Institute, Geisinger, Danville, Pennsylvania.
Vogel VG; Genomic Medicine Institute, Geisinger, Danville, Pennsylvania.
Lebo MS; Laboratory for Molecular Medicine, Partners HealthCare, Cambridge, Massachusetts.
Mason-Suares HM; Laboratory for Molecular Medicine, Partners HealthCare, Cambridge, Massachusetts.
Hoskinson DC; Laboratory for Molecular Medicine, Partners HealthCare, Cambridge, Massachusetts.
Abul-Husn NS; Regeneron Genetics Center, Tarrytown, New York.
Dewey FE; Regeneron Genetics Center, Tarrytown, New York.
Overton JD; Regeneron Genetics Center, Tarrytown, New York.
Reid JG; Regeneron Genetics Center, Tarrytown, New York.
Baras A; Regeneron Genetics Center, Tarrytown, New York.
Willard HF; Genomic Medicine Institute, Geisinger, Danville, Pennsylvania.
McCormick CZ; Genomic Medicine Institute, Geisinger, Danville, Pennsylvania.
Krishnamurthy SB; Genomic Medicine Institute, Geisinger, Danville, Pennsylvania.
Hartzel DN; Genomic Medicine Institute, Geisinger, Danville, Pennsylvania.
Kost KA; Genomic Medicine Institute, Geisinger, Danville, Pennsylvania.
Lavage DR; Genomic Medicine Institute, Geisinger, Danville, Pennsylvania.
Sturm AC; Genomic Medicine Institute, Geisinger, Danville, Pennsylvania.
Frisbie LR; Genomic Medicine Institute, Geisinger, Danville, Pennsylvania.
Person TN; Genomic Medicine Institute, Geisinger, Danville, Pennsylvania.
Metpally RP; Genomic Medicine Institute, Geisinger, Danville, Pennsylvania.
Giovanni MA; Genomic Medicine Institute, Geisinger, Danville, Pennsylvania.
Lowry LE; Genomic Medicine Institute, Geisinger, Danville, Pennsylvania.
Leader JB; Genomic Medicine Institute, Geisinger, Danville, Pennsylvania.
Ritchie MD; Genomic Medicine Institute, Geisinger, Danville, Pennsylvania.; Center for Translational Bioinformatics, University of Pennsylvania, Philadelphia.
Carey DJ; Genomic Medicine Institute, Geisinger, Danville, Pennsylvania.
Justice AE; Genomic Medicine Institute, Geisinger, Danville, Pennsylvania.
Kirchner HL; Genomic Medicine Institute, Geisinger, Danville, Pennsylvania.
Faucett WA; Genomic Medicine Institute, Geisinger, Danville, Pennsylvania.
Williams MS; Genomic Medicine Institute, Geisinger, Danville, Pennsylvania.
Ledbetter DH; Genomic Medicine Institute, Geisinger, Danville, Pennsylvania.
Murray MF; Genomic Medicine Institute, Geisinger, Danville, Pennsylvania.; Department of Genetics, Yale School of Medicine, New Haven, Connecticut.
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Źródło :
JAMA network open [JAMA Netw Open] 2018 Sep 07; Vol. 1 (5), pp. e182140. Date of Electronic Publication: 2018 Sep 07.
Typ publikacji :
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms :
BRCA1 Protein/*analysis
BRCA2 Protein/*analysis
Whole Exome Sequencing/*methods
Adult ; Aged ; Aged, 80 and over ; BRCA1 Protein/genetics ; BRCA2 Protein/genetics ; Biological Specimen Banks/statistics & numerical data ; Biomarkers, Tumor/analysis ; Biomarkers, Tumor/blood ; Cross-Sectional Studies ; Early Detection of Cancer/methods ; Exome/genetics ; Female ; Humans ; Male ; Middle Aged ; Pennsylvania ; Virulence/genetics ; Whole Exome Sequencing/statistics & numerical data
Czasopismo naukowe
Tytuł :
A Model for Genome-First Care: Returning Secondary Genomic Findings to Participants and Their Healthcare Providers in a Large Research Cohort.
Autorzy :
Schwartz MLB; Geisinger, Danville, PA 17822, USA.
McCormick CZ; Geisinger, Danville, PA 17822, USA.
Lazzeri AL; Geisinger, Danville, PA 17822, USA.
Lindbuchler DM; Geisinger, Danville, PA 17822, USA; Wilkes-Barre Area Career and Technical Center, Plains Township, PA 18705, USA.
Hallquist MLG; Geisinger, Danville, PA 17822, USA.
Manickam K; Geisinger, Danville, PA 17822, USA; Nationwide Children's Hospital, Columbus, OH 43205, USA.
Buchanan AH; Geisinger, Danville, PA 17822, USA.
Rahm AK; Geisinger, Danville, PA 17822, USA.
Giovanni MA; Geisinger, Danville, PA 17822, USA.
Frisbie L; Geisinger, Danville, PA 17822, USA.
Flansburg CN; Geisinger, Danville, PA 17822, USA.
Davis FD; Geisinger, Danville, PA 17822, USA.
Sturm AC; Geisinger, Danville, PA 17822, USA.
Nicastro C; Geisinger, Danville, PA 17822, USA.
Lebo MS; Laboratory for Molecular Medicine, Cambridge, MA 02139, USA.
Mason-Suares H; Laboratory for Molecular Medicine, Cambridge, MA 02139, USA.
Mahanta LM; Laboratory for Molecular Medicine, Cambridge, MA 02139, USA.
Carey DJ; Geisinger, Danville, PA 17822, USA.
Williams JL; Geisinger, Danville, PA 17822, USA.
Williams MS; Geisinger, Danville, PA 17822, USA.
Ledbetter DH; Geisinger, Danville, PA 17822, USA.
Faucett WA; Geisinger, Danville, PA 17822, USA.
Murray MF; Geisinger, Danville, PA 17822, USA; Yale School of Medicine, New Haven, CT 06510, USA. Electronic address: .
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Źródło :
American journal of human genetics [Am J Hum Genet] 2018 Sep 06; Vol. 103 (3), pp. 328-337. Date of Electronic Publication: 2018 Aug 09.
Typ publikacji :
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms :
Genome, Human/*genetics
Cohort Studies ; Electronic Health Records ; Genomics/methods ; Health Personnel ; Humans ; Sequence Analysis, DNA/methods
Czasopismo naukowe
Tytuł :
Early cancer diagnoses through BRCA1/2 screening of unselected adult biobank participants.
Autorzy :
Buchanan AH; Geisinger Health System, Danville, Pennsylvania, USA.; Genomic Medicine Institute, Geisinger Health System, Danville, Pennsylvania, USA.
Manickam K; Geisinger Health System, Danville, Pennsylvania, USA.; Genomic Medicine Institute, Geisinger Health System, Danville, Pennsylvania, USA.
Meyer MN; Geisinger Health System, Danville, Pennsylvania, USA.; Center for Translational Bioethics and Health Care Policy, Geisinger Health System, Danville, Pennsylvania, USA.
Wagner JK; Geisinger Health System, Danville, Pennsylvania, USA.; Center for Translational Bioethics and Health Care Policy, Geisinger Health System, Danville, Pennsylvania, USA.
Hallquist MLG; Geisinger Health System, Danville, Pennsylvania, USA.; Genomic Medicine Institute, Geisinger Health System, Danville, Pennsylvania, USA.
Williams JL; Geisinger Health System, Danville, Pennsylvania, USA.; Genomic Medicine Institute, Geisinger Health System, Danville, Pennsylvania, USA.
Rahm AK; Geisinger Health System, Danville, Pennsylvania, USA.; Genomic Medicine Institute, Geisinger Health System, Danville, Pennsylvania, USA.
Williams MS; Geisinger Health System, Danville, Pennsylvania, USA.; Genomic Medicine Institute, Geisinger Health System, Danville, Pennsylvania, USA.
Chen ZE; Geisinger Health System, Danville, Pennsylvania, USA.; Laboratory Medicine, Geisinger Health System, Danville, Pennsylvania, USA.
Shah CK; Geisinger Health System, Danville, Pennsylvania, USA.; Radiology, Geisinger Health System, Danville, Pennsylvania, USA.
Garg TK; Geisinger Health System, Danville, Pennsylvania, USA.; Department of Urology, Geisinger Health System, Danville, Pennsylvania, USA.
Lazzeri AL; Geisinger Health System, Danville, Pennsylvania, USA.; Genomic Medicine Institute, Geisinger Health System, Danville, Pennsylvania, USA.
Schwartz MLB; Geisinger Health System, Danville, Pennsylvania, USA.; Genomic Medicine Institute, Geisinger Health System, Danville, Pennsylvania, USA.
Lindbuchler DM; Geisinger Health System, Danville, Pennsylvania, USA.; Genomic Medicine Institute, Geisinger Health System, Danville, Pennsylvania, USA.
Fan AL; Geisinger Health System, Danville, Pennsylvania, USA.; Genomic Medicine Institute, Geisinger Health System, Danville, Pennsylvania, USA.
Leeming R; Geisinger Health System, Danville, Pennsylvania, USA.; General Surgery, Geisinger Health System, Danville, Pennsylvania, USA.
Servano PO 3rd; Geisinger Health System, Danville, Pennsylvania, USA.; Family Medicine, Geisinger Health System, Danville, Pennsylvania, USA.
Smith AL; Geisinger Health System, Danville, Pennsylvania, USA.; Women's Health, Geisinger Health System, Danville, Pennsylvania, USA.
Vogel VG; Geisinger Health System, Danville, Pennsylvania, USA.; Hematology & Oncology, Geisinger Health System, Danville, Pennsylvania, USA.
Abul-Husn NS; Regeneron Genetics Center, Tarrytown, New York, USA.
Dewey FE; Regeneron Genetics Center, Tarrytown, New York, USA.
Lebo MS; Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine, Cambridge, Massachusetts, USA.
Mason-Suares HM; Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine, Cambridge, Massachusetts, USA.
Ritchie MD; Geisinger Health System, Danville, Pennsylvania, USA.; Biomedical and Translational Informatics, Geisinger Health System, Danville, Pennsylvania, USA.
Davis FD; Geisinger Health System, Danville, Pennsylvania, USA.; Center for Translational Bioethics and Health Care Policy, Geisinger Health System, Danville, Pennsylvania, USA.
Carey DJ; Geisinger Health System, Danville, Pennsylvania, USA.; Department of Molecular and Functional Genomics, Geisinger Health System, Danville, Pennsylvania, USA.
Feinberg DT; Geisinger Health System, Danville, Pennsylvania, USA.; Office of the Chief Executive Officer, Geisinger Health System, Danville, Pennsylvania, USA.
Faucett WA; Geisinger Health System, Danville, Pennsylvania, USA.; Genomic Medicine Institute, Geisinger Health System, Danville, Pennsylvania, USA.
Ledbetter DH; Geisinger Health System, Danville, Pennsylvania, USA.; Genomic Medicine Institute, Geisinger Health System, Danville, Pennsylvania, USA.
Murray MF; Geisinger Health System, Danville, Pennsylvania, USA.; Genomic Medicine Institute, Geisinger Health System, Danville, Pennsylvania, USA.
Pokaż więcej
Źródło :
Genetics in medicine : official journal of the American College of Medical Genetics [Genet Med] 2018 Apr; Vol. 20 (5), pp. 554-558. Date of Electronic Publication: 2017 Oct 26.
Typ publikacji :
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms :
Biological Specimen Banks*
Genes, BRCA1*
Genes, BRCA2*
Mutation*
Early Detection of Cancer/*methods
Neoplasms/*diagnosis
Neoplasms/*genetics
Adult ; Aged ; Aged, 80 and over ; Genetic Association Studies ; Genetic Predisposition to Disease ; Germ-Line Mutation ; Hereditary Breast and Ovarian Cancer Syndrome/diagnosis ; Hereditary Breast and Ovarian Cancer Syndrome/genetics ; Humans ; Middle Aged ; Pedigree ; Whole Genome Sequencing
Czasopismo naukowe
    Wyświetlanie 1-4 z 4

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